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Gene: USO1 (USO1 vesicle transport factor) Homo sapiens

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Symbol:

USO1

Name:

USO1 vesicle transport factor

RGD ID:

733099

HGNC Page

HGNC:30904

Description:

Enables RNA binding activity and cadherin binding activity. Predicted to be involved in several processes, including Golgi vesicle transport; intracellular protein transport; and transcytosis. Predicted to act upstream of or within several processes, including Golgi organization; regulation of cellular response to insulin stimulus; and small GTPase-mediated signal transduction. Located in Golgi apparatus and fibrillar center.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

general vesicular transport factor p115; P115; protein USO1 homolog; TAP; transcytosis associated protein; USO1 homolog, vesicle docking protein; USO1 vesicle docking protein homolog; VDP; vesicle docking protein p115; vesicle docking protein, 115 kda; vesicle-docking protein

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Uso1 (USO1 vesicle docking factor)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB
Rattus norvegicus (Norway rat):	Uso1 (USO1 vesicle transport factor)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Uso1 (USO1 vesicle transport factor)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	USO1 (USO1 vesicle transport factor)	NCBI	Ortholog
Canis lupus familiaris (dog):	USO1 (USO1 vesicle transport factor)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Uso1 (USO1 vesicle transport factor)	NCBI	Ortholog
Sus scrofa (pig):	USO1 (USO1 vesicle transport factor)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	USO1 (USO1 vesicle transport factor)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Uso1 (USO1 vesicle transport factor)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Mfap3l (microfibril associated protein 3 like)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Uso1 (USO1 vesicle transport factor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Uso1 (USO1 vesicle docking factor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	uso1 (USO1 vesicle transport factor)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	USO1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	p115	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	uso-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	uso1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	uso1.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	uso1.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	75,724,577 - 75,814,286 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	75,724,577 - 75,814,286 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	76,649,761 - 76,735,439 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	76,868,853 - 76,954,390 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	77,007,007 - 77,092,543	NCBI
Celera	4	73,946,229 - 74,035,768 (+)	NCBI		Celera
Cytogenetic Map	4	q21.1	NCBI
HuRef	4	72,397,753 - 72,487,978 (+)	NCBI		HuRef
CHM1_1	4	76,626,547 - 76,712,015 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	79,064,705 - 79,154,419 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USO1	Human	progressive myoclonus epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Progressive myoclonic epilepsy	ClinVar	PMID:19847901 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USO1	Human	Arsenic Poisoning		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16835338
USO1	Human	Prostatic Neoplasms		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:17013881
USO1	Human	skin disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16835338

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USO1	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Uso1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of USO1 mRNA	CTD	PMID:36331819
USO1	Human	1,2-dimethylhydrazine	increases expression	ISO	Uso1 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of USO1 mRNA	CTD	PMID:22206623
USO1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Uso1 (Mus musculus)	6480464	Folic Acid inhibits the reaction [1 and 2-Dimethylhydrazine results in increased expression of USO1 mRNA]	CTD	PMID:22206623
USO1	Human	17beta-estradiol	increases expression	ISO	Uso1 (Mus musculus)	6480464	Estradiol results in increased expression of USO1 mRNA	CTD	PMID:39298647
USO1	Human	17beta-hydroxy-5alpha-androstan-3-one	increases expression	EXP		6480464	Dihydrotestosterone results in increased expression of USO1 mRNA	CTD	PMID:29581250
USO1	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	Uso1 (Mus musculus)	6480464	2 more ...	CTD	PMID:30294300
USO1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Uso1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of USO1 mRNA	CTD	PMID:15328365
USO1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Uso1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of USO1 mRNA	CTD	PMID:21570461
USO1	Human	2,4-dinitrotoluene	affects expression	ISO	Uso1 (Rattus norvegicus)	6480464	2 and 4-dinitrotoluene affects the expression of USO1 mRNA	CTD	PMID:21346803
USO1	Human	2,6-dimethoxyphenol	multiple interactions	EXP		6480464	[Furaldehyde co-treated with pyrogallol 1 more ...	CTD	PMID:38598786
USO1	Human	2-methylcholine	affects expression	EXP		6480464	beta-methylcholine affects the expression of USO1 mRNA	CTD	PMID:21179406
USO1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Uso1 (Mus musculus)	6480464	bisphenol S results in increased expression of USO1 mRNA	CTD	PMID:39298647
USO1	Human	6-propyl-2-thiouracil	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of USO1 mRNA	CTD	PMID:30047161
USO1	Human	acrylamide	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Acrylamide results in increased expression of USO1 mRNA	CTD	PMID:28959563
USO1	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of USO1 mRNA	CTD	PMID:33167477
USO1	Human	amitrole	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Amitrole results in increased expression of USO1 mRNA	CTD	PMID:30047161
USO1	Human	ammonium chloride	affects expression	ISO	Uso1 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of USO1 mRNA	CTD	PMID:16483693
USO1	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of USO1 mRNA	CTD	PMID:24449571
USO1	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of USO1 mRNA	CTD	PMID:33212167
USO1	Human	Aroclor 1254	decreases expression	ISO	Uso1 (Mus musculus)	6480464	Chlorodiphenyl (54% Chlorine) results in decreased expression of USO1 mRNA	CTD	PMID:23650126
USO1	Human	arsane	decreases expression	EXP		6480464	Arsenic results in decreased expression of USO1 mRNA	CTD	PMID:16835338
USO1	Human	arsenic atom	decreases expression	EXP		6480464	Arsenic results in decreased expression of USO1 mRNA	CTD	PMID:16835338
USO1	Human	benzatropine	decreases expression	EXP		6480464	Benztropine results in decreased expression of USO1 protein	CTD	PMID:34122009
USO1	Human	benzo[a]pyrene	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Benzo(a)pyrene results in increased expression of USO1 mRNA	CTD	PMID:21839799
USO1	Human	benzo[a]pyrene	decreases methylation	ISO	Uso1 (Mus musculus)	6480464	Benzo(a)pyrene results in decreased methylation of USO1 exon and Benzo(a)pyrene results in decreased methylation of USO1 intron	CTD	PMID:27901495
USO1	Human	bisphenol A	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of USO1 mRNA	CTD	PMID:25181051
USO1	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of USO1 protein	CTD	PMID:34186270
USO1	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of USO1 gene	CTD	PMID:31601247
USO1	Human	bisphenol A	decreases expression	ISO	Uso1 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of USO1 mRNA	CTD	PMID:30816183
USO1	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of USO1 protein	CTD	PMID:34186270
USO1	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of USO1 protein	CTD	PMID:34186270
USO1	Human	cadmium dichloride	increases methylation	ISO	Uso1 (Rattus norvegicus)	6480464	Cadmium Chloride results in increased methylation of USO1 promoter	CTD	PMID:22457795
USO1	Human	caffeine	increases phosphorylation	EXP		6480464	Caffeine results in increased phosphorylation of USO1 protein	CTD	PMID:35688186
USO1	Human	carbon nanotube	increases expression	ISO	Uso1 (Mus musculus)	6480464	Nanotubes and Carbon results in increased expression of USO1 mRNA	CTD	PMID:25620056
USO1	Human	chloropicrin	increases expression	EXP		6480464	chloropicrin results in increased expression of USO1 mRNA	CTD	PMID:26352163
USO1	Human	chlorpyrifos	decreases expression	ISO	Uso1 (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of USO1 mRNA	CTD	PMID:37019170
USO1	Human	chromium(6+)	multiple interactions	EXP		6480464	[zinc chromate results in increased abundance of chromium hexavalent ion] which results in increased expression of USO1 mRNA	CTD	PMID:38479592
USO1	Human	cocaine	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Cocaine results in increased expression of USO1 protein	CTD	PMID:25100957
USO1	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of USO1 mRNA	CTD	PMID:20599845
USO1	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of USO1 mRNA	CTD	PMID:19549813
USO1	Human	coumarin	increases phosphorylation	EXP		6480464	coumarin results in increased phosphorylation of USO1 protein	CTD	PMID:35688186
USO1	Human	Cuprizon	multiple interactions	EXP		6480464	[Cuprizone co-treated with Haloperidol] results in decreased expression of USO1 protein	CTD	PMID:34122009
USO1	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of USO1 mRNA	CTD	PMID:20106945 more ...
USO1	Human	deguelin	increases expression	EXP		6480464	deguelin results in increased expression of USO1 mRNA	CTD	PMID:33512557
USO1	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of USO1 mRNA	CTD	PMID:37042841
USO1	Human	dibutyl phthalate	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Dibutyl Phthalate results in increased expression of USO1 mRNA	CTD	PMID:21266533
USO1	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of USO1 mRNA	CTD	PMID:28302478
USO1	Human	diuron	decreases expression	EXP		6480464	Diuron results in decreased expression of USO1 mRNA	CTD	PMID:35967413
USO1	Human	endosulfan	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Endosulfan results in increased expression of USO1 mRNA	CTD	PMID:29391264
USO1	Human	ethanol	affects splicing	ISO	Uso1 (Mus musculus)	6480464	Ethanol affects the splicing of USO1 mRNA	CTD	PMID:30319688
USO1	Human	fenthion	decreases expression	ISO	Uso1 (Mus musculus)	6480464	Fenthion results in decreased expression of USO1 mRNA	CTD	PMID:34813904
USO1	Human	flutamide	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Flutamide results in increased expression of USO1 mRNA	CTD	PMID:24136188
USO1	Human	folic acid	multiple interactions	ISO	Uso1 (Mus musculus)	6480464	Folic Acid inhibits the reaction [1 and 2-Dimethylhydrazine results in increased expression of USO1 mRNA]	CTD	PMID:22206623
USO1	Human	folic acid	decreases expression	ISO	Uso1 (Mus musculus)	6480464	Folic Acid results in decreased expression of USO1 mRNA	CTD	PMID:25629700
USO1	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of USO1 mRNA	CTD	PMID:23649840
USO1	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of USO1 protein	CTD	PMID:37730182
USO1	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of USO1 gene	CTD	PMID:31601247
USO1	Human	furan	increases methylation	ISO	Uso1 (Rattus norvegicus)	6480464	furan results in increased methylation of USO1 gene	CTD	PMID:22079235
USO1	Human	furfural	multiple interactions	EXP		6480464	[Furaldehyde co-treated with pyrogallol 1 and 3-dimethyl ether] results in decreased expression of USO1 protein	CTD	PMID:38598786
USO1	Human	gentamycin	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of USO1 mRNA	CTD	PMID:33387578
USO1	Human	glafenine	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Glafenine results in increased expression of USO1 mRNA	CTD	PMID:24136188
USO1	Human	glyphosate	increases expression	ISO	Uso1 (Mus musculus)	6480464	Glyphosate results in increased expression of USO1 protein	CTD	PMID:36173347
USO1	Human	haloperidol	multiple interactions	EXP		6480464	[Cuprizone co-treated with Haloperidol] results in decreased expression of USO1 protein	CTD	PMID:34122009
USO1	Human	hypochlorous acid	increases expression	ISO	Uso1 (Mus musculus)	6480464	Hypochlorous Acid results in increased expression of USO1 mRNA	CTD	PMID:19376150
USO1	Human	irinotecan	decreases expression	EXP		6480464	Irinotecan analog results in decreased expression of USO1 mRNA	CTD	PMID:18927307
USO1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of USO1 protein	CTD	PMID:32959892
USO1	Human	Mesaconitine	decreases expression	ISO	Uso1 (Rattus norvegicus)	6480464	mesaconitine results in decreased expression of USO1 protein	CTD	PMID:37182599
USO1	Human	methidathion	decreases expression	ISO	Uso1 (Mus musculus)	6480464	methidathion results in decreased expression of USO1 mRNA	CTD	PMID:34813904
USO1	Human	methimazole	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Methimazole results in increased expression of USO1 mRNA	CTD	PMID:30047161
USO1	Human	nickel atom	decreases expression	EXP		6480464	Nickel results in decreased expression of USO1 mRNA	CTD	PMID:23195993
USO1	Human	paracetamol	affects expression	ISO	Uso1 (Mus musculus)	6480464	Acetaminophen affects the expression of USO1 mRNA	CTD	PMID:17562736
USO1	Human	paracetamol	decreases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of USO1 mRNA	CTD	PMID:33387578
USO1	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Uso1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of USO1 mRNA and [perfluorooctane sulfonic acid co-treated with Pectins] results in decreased expression of USO1 mRNA	CTD	PMID:36331819
USO1	Human	phenobarbital	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Phenobarbital results in increased expression of USO1 mRNA	CTD	PMID:30047161
USO1	Human	progesterone	increases expression	EXP		6480464	Progesterone results in increased expression of USO1 mRNA	CTD	PMID:18037150
USO1	Human	propiconazole	increases expression	ISO	Uso1 (Mus musculus)	6480464	propiconazole results in increased expression of USO1 mRNA	CTD	PMID:21278054
USO1	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of USO1 mRNA	CTD	PMID:33512557
USO1	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of USO1 mRNA and sodium arsenite results in decreased expression of USO1 protein	CTD	PMID:28595984 more ...
USO1	Human	sodium arsenite	decreases expression	ISO	Uso1 (Rattus norvegicus)	6480464	sodium arsenite results in decreased expression of USO1 protein	CTD	PMID:29459688
USO1	Human	sodium chloride	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with pyrogallol 1 and 3-dimethyl ether] results in decreased expression of USO1 protein	CTD	PMID:38598786
USO1	Human	sulfadimethoxine	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Sulfadimethoxine results in increased expression of USO1 mRNA	CTD	PMID:30047161
USO1	Human	testosterone	multiple interactions	ISO	Uso1 (Mus musculus)	6480464	1 more ...	CTD	PMID:33848595
USO1	Human	testosterone	decreases expression	ISO	Uso1 (Mus musculus)	6480464	Testosterone deficiency results in decreased expression of USO1 mRNA	CTD	PMID:33848595
USO1	Human	tetrachloromethane	increases expression	ISO	Uso1 (Mus musculus)	6480464	Carbon Tetrachloride results in increased expression of USO1 mRNA	CTD	PMID:31919559
USO1	Human	thapsigargin	increases expression	EXP		6480464	Thapsigargin results in increased expression of USO1 mRNA	CTD	PMID:22378314
USO1	Human	thapsigargin	increases expression	ISO	Uso1 (Rattus norvegicus)	6480464	Thapsigargin results in increased expression of USO1 protein	CTD	PMID:35544339
USO1	Human	titanium dioxide	decreases expression	ISO	Uso1 (Mus musculus)	6480464	titanium dioxide results in decreased expression of USO1 mRNA	CTD	PMID:29264374
USO1	Human	titanium dioxide	decreases methylation	ISO	Uso1 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of USO1 gene	CTD	PMID:35295148
USO1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of USO1 mRNA	CTD	PMID:37042841
USO1	Human	tunicamycin	increases expression	EXP		6480464	Tunicamycin results in increased expression of USO1 mRNA	CTD	PMID:22378314 more ...
USO1	Human	valproic acid	affects expression	ISO	Uso1 (Mus musculus)	6480464	Valproic Acid affects the expression of USO1 mRNA	CTD	PMID:17292431
USO1	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of USO1 mRNA	CTD	PMID:23179753
USO1	Human	vinclozolin	decreases expression	ISO	Uso1 (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of USO1 mRNA	CTD	PMID:23034163
USO1	Human	vinclozolin	increases methylation	ISO	Uso1 (Rattus norvegicus)	6480464	vinclozolin results in increased methylation of USO1 gene	CTD	PMID:31682807
USO1	Human	vorinostat	decreases expression	EXP		6480464	vorinostat results in decreased expression of USO1 mRNA	CTD	PMID:27188386

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USO1	Human	endoplasmic reticulum to Golgi vesicle-mediated transport	involved_in	ISS	UniProtKB:P41542	150520179		UniProt	GO_REF:0000024
USO1	Human	endoplasmic reticulum to Golgi vesicle-mediated transport	involved_in	IBA	PANTHER:PTN000000707 more ...	150520179		GO_Central	GO_REF:0000033
USO1	Human	Golgi organization	acts_upstream_of_or_within	IEA	UniProtKB:Q9Z1Z0 and ensembl:ENSMUSP00000031355	150520179		Ensembl	GO_REF:0000107
USO1	Human	Golgi vesicle docking	involved_in	IBA	PANTHER:PTN000000707 and SGD:S000002216	150520179		GO_Central	GO_REF:0000033
USO1	Human	Golgi vesicle transport	involved_in	IEA	InterPro:IPR024095	150520179		InterPro	GO_REF:0000002
USO1	Human	intracellular protein transport	involved_in	IEA	InterPro:IPR006953 and InterPro:IPR006955	150520179		InterPro	GO_REF:0000002
USO1	Human	intracellular protein transport	involved_in	IBA	PANTHER:PTN000000707 and TAIR:locus:2091438	150520179		GO_Central	GO_REF:0000033
USO1	Human	membrane fusion		ISO	Uso1 (Rattus norvegicus)	9068941		RGD	PMID:7831324 and REF_RGD_ID:730003
USO1	Human	membrane fusion	involved_in	IBA	PANTHER:PTN000000707 more ...	150520179		GO_Central	GO_REF:0000033
USO1	Human	protein transport	involved_in	IEA	UniProtKB-KW:KW-0653	150520179		UniProt	GO_REF:0000043
USO1	Human	regulation of cellular response to insulin stimulus	acts_upstream_of_or_within	IEA	UniProtKB:Q9Z1Z0 and ensembl:ENSMUSP00000031355	150520179		Ensembl	GO_REF:0000107
USO1	Human	secretory granule localization	acts_upstream_of_or_within	IEA	UniProtKB:Q9Z1Z0 and ensembl:ENSMUSP00000031355	150520179		Ensembl	GO_REF:0000107
USO1	Human	small GTPase-mediated signal transduction	acts_upstream_of_or_within	IEA	UniProtKB:Q9Z1Z0 and ensembl:ENSMUSP00000031355	150520179		Ensembl	GO_REF:0000107
USO1	Human	transcytosis		ISO	Uso1 (Rattus norvegicus)	9068941		RGD	PMID:7831324 and REF_RGD_ID:730003
USO1	Human	transcytosis	involved_in	IBA	PANTHER:PTN002224380 and Uso1 (Rattus norvegicus)	150520179		GO_Central	GO_REF:0000033
USO1	Human	vesicle fusion with Golgi apparatus	involved_in	IEA	InterPro:IPR006953	150520179		InterPro	GO_REF:0000002
USO1	Human	vesicle-mediated transport	involved_in	IEA	UniProtKB-KW:KW-0931	150520179		UniProt	GO_REF:0000043
USO1	Human	vesicle-mediated transport	involved_in	IEA	InterPro:IPR006955	150520179		InterPro	GO_REF:0000002

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USO1	Human	cytoplasm	located_in	IEA	InterPro:IPR006953	150520179		InterPro	GO_REF:0000002
USO1	Human	cytoplasm	located_in	IEA	ARBA:ARBA00026971	150520179		UniProt	GO_REF:0000117
USO1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
USO1	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-5694418 more ...
USO1	Human	cytosol	located_in	IEA	UniProtKB-SubCell:SL-0091	150520179		UniProt	GO_REF:0000044
USO1	Human	cytosol	located_in	IEA	UniProtKB:Q9Z1Z0 and ensembl:ENSMUSP00000031355	150520179		Ensembl	GO_REF:0000107
USO1	Human	endoplasmic reticulum	is_active_in	IBA	FB:FBgn0040087 and PANTHER:PTN000000707	150520179		GO_Central	GO_REF:0000033
USO1	Human	ER to Golgi transport vesicle membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-5694418 more ...
USO1	Human	ER to Golgi transport vesicle membrane	is_active_in	IBA	PANTHER:PTN000000707 and SGD:S000002216	150520179		GO_Central	GO_REF:0000033
USO1	Human	fibrillar center	located_in	IDA		150520179		HPA	GO_REF:0000052
USO1	Human	Golgi apparatus	located_in	IEA	UniProtKB-KW:KW-0333	150520179		UniProt	GO_REF:0000043
USO1	Human	Golgi apparatus	located_in	IDA		150520179		HPA	GO_REF:0000052
USO1	Human	Golgi membrane	located_in	TAS		150520179	PMID:9478999	Reactome	PMID:9478999 more ...
USO1	Human	Golgi membrane	located_in	IEA	InterPro:IPR006953	150520179		InterPro	GO_REF:0000002
USO1	Human	Golgi membrane	located_in	IEA	UniProtKB-SubCell:SL-0134	150520179		UniProt	GO_REF:0000044
USO1	Human	Golgi stack	is_active_in	IBA	FB:FBgn0040087 more ...	150520179		GO_Central	GO_REF:0000033
USO1	Human	membrane	located_in	HDA		150520179	PMID:19946888	UniProt	PMID:19946888
USO1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
USO1	Human	microtubule organizing center	located_in	TAS		150520179		Reactome	Reactome:R-NUL-9646387
USO1	Human	perinuclear region of cytoplasm	located_in	IEA	UniProtKB:Q9Z1Z0 and ensembl:ENSMUSP00000031355	150520179		Ensembl	GO_REF:0000107
USO1	Human	transport vesicle	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6807877 more ...

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USO1	Human	cadherin binding	enables	HDA		150520179	PMID:25468996	BHF-UCL	PMID:25468996
USO1	Human	protein binding	enables	IPI	UniProtKB:Q8NE22	150520179	PMID:33961781	IntAct	PMID:33961781
USO1	Human	protein binding	enables	IPI	UniProtKB:P0DTC9	150520179	PMID:36217029	IntAct	PMID:36217029
USO1	Human	protein binding	enables	IPI	UniProtKB:Q8IUZ5 more ...	150520179	PMID:25416956	IntAct	PMID:25416956
USO1	Human	protein binding		ISO	Plcg1 (Rattus norvegicus)	9068941		RGD	PMID:12507498 and REF_RGD_ID:734467
USO1	Human	RNA binding	enables	HDA		150520179	PMID:22658674	UniProt	PMID:22658674

Imported Annotations - PID (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USO1	Human	Arf family mediated signaling pathway		EXP		6484113		PID	PID:200195

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USO1	Human	Generalized myoclonic seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Progressive myoclonic epilepsy	ClinVar	PMID:19847901 and PMID:28492532

#	Reference Title	Reference Citation
1.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:1512287	PMID:9150144	PMID:9478999	PMID:9628863	PMID:9753325	PMID:9786945	PMID:10903204	PMID:10931861	PMID:11035033	PMID:11076863	PMID:11230166	PMID:11396975
PMID:11927603	PMID:12077354	PMID:12401177	PMID:12438416	PMID:12477932	PMID:12507498	PMID:12634853	PMID:14702039	PMID:14736916	PMID:15489334	PMID:15489336	PMID:15718469
PMID:15979508	PMID:16051665	PMID:16189514	PMID:16256943	PMID:16344560	PMID:16381901	PMID:16473624	PMID:17081983	PMID:17274799	PMID:17353931	PMID:18434597	PMID:19028683
PMID:19247479	PMID:19454686	PMID:19946888	PMID:20126549	PMID:20209057	PMID:20467437	PMID:21147777	PMID:21536679	PMID:21873635	PMID:21903422	PMID:22658674	PMID:22792062
PMID:22939629	PMID:23686814	PMID:23874603	PMID:24379579	PMID:24798327	PMID:25147182	PMID:25416956	PMID:25468996	PMID:25609649	PMID:25921289	PMID:26184508	PMID:26186194
PMID:26344197	PMID:26496610	PMID:26638075	PMID:26831064	PMID:26898451	PMID:27684187	PMID:28514442	PMID:28515276	PMID:28581483	PMID:29128334	PMID:29180619	PMID:29395067
PMID:29507755	PMID:29509190	PMID:29540532	PMID:29568061	PMID:29791485	PMID:29955894	PMID:30021884	PMID:30652415	PMID:30884312	PMID:30948266	PMID:31006538	PMID:31010829
PMID:31073040	PMID:31091453	PMID:31519766	PMID:31732153	PMID:31950832	PMID:31995728	PMID:32296183	PMID:32687490	PMID:32963011	PMID:33111431	PMID:33194618	PMID:33239621
PMID:33742100	PMID:33845483	PMID:33961781	PMID:34079125	PMID:34133714	PMID:34159380	PMID:34162911	PMID:34273398	PMID:34293111	PMID:34373451	PMID:34597346	PMID:34650049
PMID:34672954	PMID:34709266	PMID:35013556	PMID:35032548	PMID:35241646	PMID:35256949	PMID:35271311	PMID:35384245	PMID:35439318	PMID:35446349	PMID:35776542	PMID:35831314
PMID:35844135	PMID:35944360	PMID:36215168	PMID:36217029	PMID:36244648	PMID:36261009	PMID:36282215	PMID:36604567	PMID:36610398	PMID:36779422	PMID:36880596	PMID:36931259
PMID:36964488	PMID:37071682	PMID:37120454	PMID:37223481	PMID:37232246	PMID:37536630	PMID:37723588	PMID:37827155	PMID:38334954	PMID:38569033	PMID:38580884	PMID:39231216

USO1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	75,724,577 - 75,814,286 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	75,724,577 - 75,814,286 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	76,649,761 - 76,735,439 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	76,868,853 - 76,954,390 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	77,007,007 - 77,092,543	NCBI
Celera	4	73,946,229 - 74,035,768 (+)	NCBI		Celera
Cytogenetic Map	4	q21.1	NCBI
HuRef	4	72,397,753 - 72,487,978 (+)	NCBI		HuRef
CHM1_1	4	76,626,547 - 76,712,015 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	79,064,705 - 79,154,419 (+)	NCBI		T2T-CHM13v2.0

Uso1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	92,285,770 - 92,350,659 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	92,285,797 - 92,350,657 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	92,137,909 - 92,202,800 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	92,137,938 - 92,202,798 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	92,566,964 - 92,631,821 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	93,213,138 - 93,277,995 (+)	NCBI		MGSCv36	mm8
Celera	5	90,281,456 - 90,346,290 (+)	NCBI		Celera
Cytogenetic Map	5	E2	NCBI
cM Map	5	46.05	NCBI

Uso1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	16,150,921 - 16,216,389 (-)	NCBI		GRCr8
mRatBN7.2	14	15,866,638 - 15,932,185 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	15,866,638 - 15,932,171 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	15,877,025 - 15,942,315 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	17,195,867 - 17,261,157 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	15,891,324 - 15,956,616 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	17,371,451 - 17,436,948 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	17,371,453 - 17,436,897 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	17,289,138 - 17,354,629 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	17,414,403 - 17,480,241 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	17,414,402 - 17,480,241 (-)	NCBI
Celera	14	15,262,274 - 15,328,301 (-)	NCBI		Celera
Cytogenetic Map	14	p22	NCBI

Uso1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955474	1,647,361 - 1,705,548 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955474	1,647,670 - 1,704,869 (+)	NCBI	ChiLan1.0	ChiLan1.0

USO1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	3	54,258,520 - 54,348,206 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	54,448,331 - 54,537,888 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	48,391,293 - 48,480,909 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	54,229,601 - 54,317,402 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	54,229,601 - 54,317,158 (-)	Ensembl	panpan1.1		panPan2

USO1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	32	305,895 - 395,113 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	32	305,935 - 394,896 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	32	41,486,671 - 41,575,746 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	32	330,513 - 419,681 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	32	330,518 - 421,808 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	32	326,480 - 415,549 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	32	283,134 - 372,220 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	32	39,797,734 - 39,887,494 (-)	NCBI		UU_Cfam_GSD_1.0

Uso1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405285	11,719,761 - 11,754,982 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936598	172,698 - 246,370 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936598	172,360 - 246,565 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

USO1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	71,363,614 - 71,452,939 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	71,363,627 - 71,451,258 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	75,499,566 - 75,587,277 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

USO1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	7	24,236,601 - 24,325,575 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	24,236,698 - 24,325,630 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	2,577,653 - 2,668,033 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Uso1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624730	28,175 - 130,012 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624730	27,313 - 130,086 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in USO1
1 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	copy number loss	See cases [RCV000050786]	Chr4:75453111..84094295 [GRCh38] Chr4:76378321..85015448 [GRCh37] Chr4:76597345..85234472 [NCBI36] Chr4:4q21.1-21.23	pathogenic
GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1	copy number loss	See cases [RCV000051054]	Chr4:75729757..76160423 [GRCh38] Chr4:76654941..77081576 [GRCh37] Chr4:76873965..77300600 [NCBI36] Chr4:4q21.1	uncertain significance
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	copy number gain	See cases [RCV000051774]	Chr4:71128874..78099088 [GRCh38] Chr4:71994591..79020242 [GRCh37] Chr4:72213455..79239266 [NCBI36] Chr4:4q13.3-21.21	pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	copy number gain	See cases [RCV000051772]	Chr4:51831622..97505618 [GRCh38] Chr4:52697788..98426769 [GRCh37] Chr4:52392545..98645792 [NCBI36] Chr4:4q12-22.3	pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]\|See cases [RCV000053294]	Chr4:67869564..85517308 [GRCh38] Chr4:68735282..86438461 [GRCh37] Chr4:68417877..86657485 [NCBI36] Chr4:4q13.2-21.23	pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]\|See cases [RCV000053295]	Chr4:71079179..81802208 [GRCh38] Chr4:71944896..82723361 [GRCh37] Chr4:72163760..82942385 [NCBI36] Chr4:4q13.3-21.22	pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]\|See cases [RCV000053296]	Chr4:74031395..90421127 [GRCh38] Chr4:74897112..91342278 [GRCh37] Chr4:75115976..91561301 [NCBI36] Chr4:4q13.3-22.1	pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	copy number gain	See cases [RCV000138312]	Chr4:72262258..86002147 [GRCh38] Chr4:73127975..86923300 [GRCh37] Chr4:73346839..87142324 [NCBI36] Chr4:4q13.3-21.3	pathogenic
GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	copy number gain	See cases [RCV000141486]	Chr4:75801143..79005805 [GRCh38] Chr4:76722296..79926959 [GRCh37] Chr4:76941320..80145983 [NCBI36] Chr4:4q21.1-21.21	pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	copy number gain	See cases [RCV000143458]	Chr4:68686088..95294456 [GRCh38] Chr4:69551806..96215607 [GRCh37] Chr4:69234401..96434630 [NCBI36] Chr4:4q13.2-22.3	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	copy number loss	See cases [RCV000510445]	Chr4:66017575..76772947 [GRCh37] Chr4:4q13.1-21.1	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	copy number loss	not provided [RCV000682421]	Chr4:74890695..77318961 [GRCh37] Chr4:4q13.3-21.1	uncertain significance
GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	copy number loss	not provided [RCV000682422]	Chr4:75353931..77183033 [GRCh37] Chr4:4q13.3-21.1	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	copy number loss	not provided [RCV000846231]	Chr4:71561780..78304341 [GRCh37] Chr4:4q13.3-21.1	pathogenic
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	copy number loss	not provided [RCV001005556]	Chr4:72680879..86426232 [GRCh37] Chr4:4q13.3-21.23	pathogenic
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	copy number gain	not provided [RCV000845944]	Chr4:68242784..82991431 [GRCh37] Chr4:4q13.2-21.22	pathogenic
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	copy number loss	not provided [RCV001005553]	Chr4:68950363..79738598 [GRCh37] Chr4:4q13.2-21.21	pathogenic
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	copy number loss	See cases [RCV001263040]	Chr4:71412409..87920784 [GRCh37] Chr4:4q13.3-21.3	pathogenic
GRCh37/hg19 4q21.1(chr4:76714825-76978984)x3	copy number gain	not provided [RCV001259273]	Chr4:76714825..76978984 [GRCh37] Chr4:4q21.1	uncertain significance
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	copy number loss	Piebaldism [RCV001420508]	Chr4:51891814..76009719 [GRCh38] Chr4:4q12-21.1	pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	copy number gain	not provided [RCV001827738]	Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21	pathogenic
GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	copy number loss	not specified [RCV002053427]	Chr4:73055313..80083154 [GRCh37] Chr4:4q13.3-21.21	pathogenic
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	copy number gain	not specified [RCV002053429]	Chr4:75737340..91131156 [GRCh37] Chr4:4q13.3-22.1	pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:75617591-76926681)x3	copy number gain	not provided [RCV001827766]	Chr4:75617591..76926681 [GRCh37] Chr4:4q13.3-21.1	uncertain significance
NC_000004.11:g.(?_76481293)_(77700330_?)del	deletion	Progressive myoclonic epilepsy [RCV001950969]	Chr4:76481293..77700330 [GRCh37] Chr4:4q21.1	pathogenic
NC_000004.12:g.67833055_82716065del	deletion	See cases [RCV003313802]	Chr4:67833055..82716065 [GRCh38] Chr4:4q13.2-21.22	pathogenic
GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	copy number loss	not specified [RCV003986507]	Chr4:74822261..79345650 [GRCh37] Chr4:4q13.3-21.21	uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
NM_003715.4(USO1):c.2353G>A (p.Glu785Lys)	single nucleotide variant	USO1-related disorder [RCV003971891]	Chr4:75806549 [GRCh38] Chr4:76727702 [GRCh37] Chr4:4q21.1	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	1189
Count of miRNA genes:	654
Interacting mature miRNAs:	738
Transcripts:	ENST00000264904, ENST00000441296, ENST00000508454, ENST00000512893, ENST00000514213, ENST00000538159, ENST00000603759
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597258645	GWAS1354719_H	total cholesterol measurement QTL GWAS1354719 (human)		3e-14	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	4	75725259	75725260	Human

RH46891

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	76,735,257 - 76,735,390	UniSTS	GRCh37
Build 36	4	76,954,281 - 76,954,414	RGD	NCBI36
Celera	4	74,035,659 - 74,035,792	RGD
Cytogenetic Map	4	q21.1	UniSTS
HuRef	4	72,487,869 - 72,488,002	UniSTS
GeneMap99-GB4 RH Map	4	450.01	UniSTS
NCBI RH Map	4	875.8	UniSTS

SHGC-36721

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	76,735,251 - 76,735,337	UniSTS	GRCh37
Build 36	4	76,954,275 - 76,954,361	RGD	NCBI36
Celera	4	74,035,653 - 74,035,739	RGD
Cytogenetic Map	4	q21.1	UniSTS
HuRef	4	72,487,863 - 72,487,949	UniSTS
TNG Radiation Hybrid Map	4	43935.0	UniSTS
GeneMap99-G3 RH Map	4	4182.0	UniSTS

G19677

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	129,178,751 - 129,178,879	UniSTS	GRCh37
GRCh37	4	76,735,163 - 76,735,291	UniSTS	GRCh37
Build 36	4	129,398,201 - 129,398,329	RGD	NCBI36
Celera	4	74,035,565 - 74,035,693	UniSTS
Celera	4	126,559,679 - 126,559,807	RGD
Cytogenetic Map	4	q21.1	UniSTS
HuRef	4	124,910,032 - 124,910,160	UniSTS
HuRef	4	72,487,775 - 72,487,903	UniSTS

A001V03

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	76,735,163 - 76,735,291	UniSTS	GRCh37
GRCh37	4	129,178,751 - 129,178,879	UniSTS	GRCh37
Build 36	4	129,398,201 - 129,398,329	RGD	NCBI36
Celera	4	126,559,679 - 126,559,807	RGD
Celera	4	74,035,565 - 74,035,693	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
HuRef	4	72,487,775 - 72,487,903	UniSTS
HuRef	4	124,910,032 - 124,910,160	UniSTS
GeneMap99-GB4 RH Map	4	425.68	UniSTS

ECD24378

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,994,192 - 54,994,328	UniSTS	GRCh37
GRCh37	19	54,991,337 - 54,991,473	UniSTS	GRCh37
Build 36	19	59,683,149 - 59,683,285	RGD	NCBI36
Celera	19	52,031,920 - 52,032,056	RGD
Celera	19	52,034,773 - 52,034,909	UniSTS
HuRef	4	72,401,852 - 72,401,988	UniSTS
HuRef	19	51,317,781 - 51,317,917	UniSTS
HuRef	19	51,315,177 - 51,315,313	UniSTS

REN93022

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,991,286 - 54,991,549	UniSTS	GRCh37
Build 36	19	59,683,098 - 59,683,361	RGD	NCBI36
Celera	19	52,031,869 - 52,032,132	RGD
Cytogenetic Map	4	q21.1	UniSTS
HuRef	4	72,401,801 - 72,402,064	UniSTS
HuRef	19	51,315,126 - 51,315,389	UniSTS

REN93023

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,991,341 - 54,991,585	UniSTS	GRCh37
Build 36	19	59,683,153 - 59,683,397	RGD	NCBI36
Celera	19	52,031,924 - 52,032,168	RGD
Cytogenetic Map	4	q21.1	UniSTS
HuRef	4	72,401,856 - 72,402,100	UniSTS
HuRef	19	51,315,181 - 51,315,425	UniSTS

SHGC4-1677

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	76,706,594 - 76,706,743	UniSTS	GRCh37
Build 36	4	76,925,618 - 76,925,767	RGD	NCBI36
Celera	4	74,007,019 - 74,007,168	RGD
Cytogenetic Map	4	q21.1	UniSTS
HuRef	4	72,459,226 - 72,459,375	UniSTS
TNG Radiation Hybrid Map	4	43922.0	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2432	2788	2245	4942	1723	2345	4	622	1948	464	2268	7281	6454	52	3708	847	1731	1612	171


RefSeq Transcripts	NM_001290049	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003715	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006714396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006714397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054351145	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054351146	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC104828	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC110615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AEKP01043041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK002093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833753	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW043712	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC032654	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D86326	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA107349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF583734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY008203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000264904 ⟹ ENSP00000264904

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	75,724,598 - 75,814,286 (+)	Ensembl

Ensembl Acc Id:

ENST00000508454

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	75,805,009 - 75,806,555 (+)	Ensembl

Ensembl Acc Id:

ENST00000512893

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	75,770,123 - 75,771,138 (+)	Ensembl

Ensembl Acc Id:

ENST00000514213 ⟹ ENSP00000444850

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	75,724,577 - 75,814,286 (+)	Ensembl

RefSeq Acc Id:

NM_001290049 ⟹ NP_001276978

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	75,724,577 - 75,814,286 (+)	NCBI
CHM1_1	4	76,626,424 - 76,712,091 (+)	NCBI
T2T-CHM13v2.0	4	79,064,705 - 79,154,419 (+)	NCBI

Sequence:

show sequence

CCCTTTTGCCTTCAACCTTCGAGCCGCCACGTAATGCCACGTCCCCGCGCATGCGCATCTTGGCCGCTGCTGGCGGCTGTTTCCGGGCTTAGAGGGCTGGAGTGGCCGCCGAGTTGGAGGCGGTGGTG
GCAGCAGTAGGAGTGTGTAGAGTGCGGGATTGGGGCCCAGGCCCTGCGGAGGGCGGGGGAAGTTGTCTTCTTTTTTTTCCGGAGGGGCCGGTAAACCTGGTGGCTGAACGGCAAGATGAATTTCCTCC
GCGGGGTAATGGGGGGTCAGAGTGCCGGACCCCAGCACACAGAAGCCGAGACGATTCAAAAGCTTTGTGACAGAGTAGCTTCATCTACTTTATTGGATGATCGAAGAAATGCTGTTCGTGCTCTCAAA
TCATTATCTAAGAAATACCGCTTGGAAGTGGGTATACAAGCTATGGAACATCTTATTCATGTTTTACAAACAGATCGTTCAGATTCTGAAATAATAGGTTATGCTTTGGACACACTATATAATATAAT
ATCTAATGAAGAAGAAGAAGAAGTAGATGATGTTGAAGAAGAAAATTCCACAAGACAGAGTGAAGATTTGGGAAGCCAATTTACAGAAATTTTCATTAAGCAGCAGGAAAATGTCACTCTTCTGTTAT
CTTTATTGGAGGAGTTTGATTTCCATGTCCGCTGGCCTGGTGTGAAGCTTCTTACTTCTCTTTTAAAACAACTAGGGCCTCAGGTGCAACAAATTATTTTAGTCAGTCCTATGGGTGTTTCAAGATTG
ATGGACTTACTAGCGGATTCCAGGGAAGTTATACGTAATGATGGCGTCTTACTACTGCAGGCACTAACAAGAAGCAATGGTGCAATCCAGAAAATTGTTGCTTTTGAAAATGCTTTCGAGAGACTACT
GGACATTATTTCAGAGGAGGGGAACAGTGATGGAGGTATAGTAGTTGAAGATTGTTTGATTTTGCTCCAAAACTTATTAAAAAACAACAACTCCAATCAAAATTTTTTTAAAGAAGGCTCATATATTC
AACGTATGAAACCTTGGTTTGAAGTTGGAGATGAAAATTCTGGCTGGTCTGCACAGAAAGTGACCAATCTACATCTAATGCTACAGCTTGTTCGTGTATTGGTATCTCCCACCAACCCTCCTGGTGCT
ACCAGTAGCTGCCAGAAGGCTATGTTCCAGTGTGGGTTATTGCAGCAGCTTTGTACTATCCTAATGGCTACTGGGGTTCCTGCTGATATCCTGACTGAGACCATAAATACTGTATCAGAAGTTATTCG
AGGCTGCCAAGTAAACCAAGACTACTTTGCATCTGTAAATGCACCTTCAAACCCACCAAGACCGGCAATTGTAGTACTTCTCATGTCCATGGTTAATGAAAGGCAGCCATTTGTTTTGCGCTGTGCTG
TTCTCTATTGTTTCCAGTGTTTCTTGTATAAAAACCAAAAAGGACAAGGAGAAATCGTGTCAACACTTTTACCTTCTACCATTGATGCAACAGGTAATTCAGTTTCAGCTGGCCAGTTATTATGTGGA
GGTTTGTTTTCTACTGATTCACTTTCAAACTGGTGTGCTGCTGTGGCCCTTGCCCATGCGTTGCAAGAAAATGCCACCCAGAAAGAACAGTTGCTCAGGGTTCAACTTGCTACAAGTATTGGCAACCC
TCCAGTTTCTTTACTTCAACAGTGCACCAATATTCTTTCACAGGGTGATAAGATCGACAGACGGGGAAGCAAAATACAAACAAGAGTTGGATTATTAATGTTGCTTTGTACCTGGCTAAGCAATTGTC
CCATTGCAGTAACGCATTTTCTTCACAATTCAGCCAATGTTCCATTTCTTACAGGACAAATTGCAGAAAATCTTGGAGAAGAAGAGCAGTTGGTCCAAGGCTTATGTGCCCTTTTGTTGGGCATTTCG
ATTTATTTCAATGATAACTCACTTGAGAGCTACATGAAAGAGAAGCTAAAACAACTGATTGAGAAGAGGATTGGCAAAGAGAATTTCATAGAGAAACTAGGATTTATTAGCAAACATGAGTTGTATTC
CAGAGCATCTCAGAAACCCCAGCCAAACTTTCCCAGTCCAGAATACATGATATTTGATCATGAGTTTACGAAGCTGGTAAAAGAACTTGAAGGTGTTATAACTAAGGCTATTTATAAGTCCAGTGAAG
AAGATAAAAAAGAAGAAGAGGTGAAAAAAACATTAGAACAGCATGACAATATTGTGACTCACTACAAAAATATGATTCGAGAGCAGGATCTCCAACTTGAGGAATTAAGGCAGCAGGTTTCTACATTA
AAATGTCAAAATGAACAGCTCCAGACGGCAGTCACACAGCAAGTATCACAGATCCAGCAGCACAAAGACCAGTATAATCTTCTTAAAATACAGCTAGGAAAAGACAATCAGCATCAAGGTTCTTACAG
TGAGGGGGCTCAGATGAATGGCATTCAGCCAGAAGAAATTGGTAGATTGCGAGAAGAGATAGAAGAATTAAAACGTAATCAGGAACTTTTACAAAGCCAGCTGACTGAAAAGGACTCTATGATTGAAA
ATATGAAATCTTCCCAAACATCTGGCACAAATGAACAGTCTTCAGCAATAGTTTCAGCTAGAGATTCTGAACAAGTTGCAGAATTAAAACAGGAACTGGCAACTTTAAAGTCTCAGTTAAACTCACAA
TCTGTGGAGATCACCAAACTACAGACAGAAAAGCAGGAACTGTTACAGAAAACAGAAGCGTTTGCAAAATCAGTTGAGGTACAAGGAGAGACCGAGACTATAATAGCCACCAAAACTACTGATGTAGA
AGGAAGACTGTCAGCATTATTACAAGAGACCAAAGAGTTAAAGAATGAAATTAAAGCTCTGTCTGAGGAAAGAACTGCCATTAAAGAGCAGCTGGATTCATCTAATAGTACCATTGCCATTTTACAAA
CTGAGAAAGACAAACTAGAGTTGGAAATTACAGATTCTAAAAAAGAACAAGATGATCTCTTGGTGCTCTTGGCCGATCAAGATCAGAAAATACTGTCATTGAAGAATAAACTCAAGGATCTTGGTCAT
CCAGTTGAAGAAGAGGATGAACTTGAATCTGGAGACCAAGAGGATGAGGATGATGAAAGTGAAGATCCTGGCAAGGATCTAGATCATATCTAGTTTTCAAATCTCTAGGAACAATAGAGATTATATCA
TAACTCTGAAGATGGACTCTAAACTTTGGTTTACCTCCATGGAAAATAAAGATTTAGAAACCAGGTGGAAAACATTCACTATTAAGACTATTGATATATTTTTGTAATGTTGCCACCCATGTTGAAAA
CCTTAAAACTGAATTTATGTAGAACACACATCTTTTATTTAAATCCATCTGAACTGTCCCAAAATGTAATTTGCAAAGAGCTTCAAACACCAAAAATATACCATTTTAAGGCATGTGGTGACAATGCT
ATTTGCCTTAGTTCATTCGTTGTTTACTTTGCAAAATTTGTGACTTTTAAGTACTAACACATTTGATTGAATGTGTATTGAATTGGAATTATTATTTCTAAATTCAGCATTTGAGTCCTTAGTTGATG
ATTTTCTTTTAAAGAAATTAGTTTATTTAAAAGCAAGATAGCCTGGGTTGGGAGTTAGTGCATATCATCAGCCCTCCATCTAATGTGATTGCTAAGATGTGCAGGATAGGACAGCTTAGAATGAGTGC
CTTGACACCTACATATGGCTGCATTCCATACCTCAGTGAAGAAGCCGAAGGATGCTGACACACAGTGATGTGGAGGGCATTCCGGAGAAACTTTTGCAACAGTGTATTAATGTGATTGGTTTTCTTTT
TGTTTTAAGCTAAACATCTAAAACAAATTTCAAGTTAACAGTTCATACAACTCAGATTTAGTAGTATTGTTTATCATAAAACATATTATGTTCCTAGTTTTAAAAAGACCCAAAGTATGATTAATATA
ATTTATTGGCATTTTTGCTGAATAGGTTTAAGTCAGATAATAGATTTTAAAAAAGCAAATGAGGCAATGTGTCAAAATTTAATGTTTCATAATAAAAATAGATACGTTGACTTAATCCTTGGTCATGG
TTCCCTTTGTTTACATCTTAAAAGTATTTTATTCTTAATAAAAGATGAGGCAAGTGAAAA

hide sequence

RefSeq Acc Id:

NM_003715 ⟹ NP_003706

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	75,724,577 - 75,814,286 (+)	NCBI
GRCh37	4	76,649,829 - 76,735,366 (+)	ENTREZGENE
Build 36	4	76,868,853 - 76,954,390 (+)	NCBI Archive
HuRef	4	72,397,753 - 72,487,978 (+)	ENTREZGENE
CHM1_1	4	76,626,424 - 76,712,091 (+)	NCBI
T2T-CHM13v2.0	4	79,064,705 - 79,154,419 (+)	NCBI

Sequence:

show sequence

CCCTTTTGCCTTCAACCTTCGAGCCGCCACGTAATGCCACGTCCCCGCGCATGCGCATCTTGGC
CGCTGCTGGCGGCTGTTTCCGGGCTTAGAGGGCTGGAGTGGCCGCCGAGTTGGAGGCGGTGGTGGCAGCAGTAGGAGTGTGTAGAGTGCGGGATTGGGGCCCAGGCCCTGCGGAGGGCGGGGGAAGTT
GTCTTCTTTTTTTTCCGGAGGGGCCGGTAAACCTGGTGGCTGAACGGCAAGATGAATTTCCTCCGCGGGGTAATGGGGGGTCAGAGTGCCGGACCCCAGCACACAGAAGCCGAGACGATTCAAAAGCT
TTGTGACAGAGTAGCTTCATCTACTTTATTGGATGATCGAAGAAATGCTGTTCGTGCTCTCAAATCATTATCTAAGAAATACCGCTTGGAAGTGGGTATACAAGCTATGGAACATCTTATTCATGTTT
TACAAACAGATCGTTCAGATTCTGAAATAATAGGTTATGCTTTGGACACACTATATAATATAATATCTAATGAAGAAGAAGAAGAAGTAGAAGAAAATTCCACAAGACAGAGTGAAGATTTGGGAAGC
CAATTTACAGAAATTTTCATTAAGCAGCAGGAAAATGTCACTCTTCTGTTATCTTTATTGGAGGAGTTTGATTTCCATGTCCGCTGGCCTGGTGTGAAGCTTCTTACTTCTCTTTTAAAACAACTAGG
GCCTCAGGTGCAACAAATTATTTTAGTCAGTCCTATGGGTGTTTCAAGATTGATGGACTTACTAGCGGATTCCAGGGAAGTTATACGTAATGATGGCGTCTTACTACTGCAGGCACTAACAAGAAGCA
ATGGTGCAATCCAGAAAATTGTTGCTTTTGAAAATGCTTTCGAGAGACTACTGGACATTATTTCAGAGGAGGGGAACAGTGATGGAGGTATAGTAGTTGAAGATTGTTTGATTTTGCTCCAAAACTTA
TTAAAAAACAACAACTCCAATCAAAATTTTTTTAAAGAAGGCTCATATATTCAACGTATGAAACCTTGGTTTGAAGTTGGAGATGAAAATTCTGGCTGGTCTGCACAGAAAGTGACCAATCTACATCT
AATGCTACAGCTTGTTCGTGTATTGGTATCTCCCACCAACCCTCCTGGTGCTACCAGTAGCTGCCAGAAGGCTATGTTCCAGTGTGGGTTATTGCAGCAGCTTTGTACTATCCTAATGGCTACTGGGG
TTCCTGCTGATATCCTGACTGAGACCATAAATACTGTATCAGAAGTTATTCGAGGCTGCCAAGTAAACCAAGACTACTTTGCATCTGTAAATGCACCTTCAAACCCACCAAGACCGGCAATTGTAGTA
CTTCTCATGTCCATGGTTAATGAAAGGCAGCCATTTGTTTTGCGCTGTGCTGTTCTCTATTGTTTCCAGTGTTTCTTGTATAAAAACCAAAAAGGACAAGGAGAAATCGTGTCAACACTTTTACCTTC
TACCATTGATGCAACAGGTAATTCAGTTTCAGCTGGCCAGTTATTATGTGGAGGTTTGTTTTCTACTGATTCACTTTCAAACTGGTGTGCTGCTGTGGCCCTTGCCCATGCGTTGCAAGAAAATGCCA
CCCAGAAAGAACAGTTGCTCAGGGTTCAACTTGCTACAAGTATTGGCAACCCTCCAGTTTCTTTACTTCAACAGTGCACCAATATTCTTTCACAGGGAAGCAAAATACAAACAAGAGTTGGATTATTA
ATGTTGCTTTGTACCTGGCTAAGCAATTGTCCCATTGCAGTAACGCATTTTCTTCACAATTCAGCCAATGTTCCATTTCTTACAGGACAAATTGCAGAAAATCTTGGAGAAGAAGAGCAGTTGGTCCA
AGGCTTATGTGCCCTTTTGTTGGGCATTTCGATTTATTTCAATGATAACTCACTTGAGAGCTACATGAAAGAGAAGCTAAAACAACTGATTGAGAAGAGGATTGGCAAAGAGAATTTCATAGAGAAAC
TAGGATTTATTAGCAAACATGAGTTGTATTCCAGAGCATCTCAGAAACCCCAGCCAAACTTTCCCAGTCCAGAATACATGATATTTGATCATGAGTTTACGAAGCTGGTAAAAGAACTTGAAGGTGTT
ATAACTAAGGCTATTTATAAGTCCAGTGAAGAAGATAAAAAAGAAGAAGAGGTGAAAAAAACATTAGAACAGCATGACAATATTGTGACTCACTACAAAAATATGATTCGAGAGCAGGATCTCCAACT
TGAGGAATTAAGGCAGCAGGTTTCTACATTAAAATGTCAAAATGAACAGCTCCAGACGGCAGTCACACAGCAAGTATCACAGATCCAGCAGCACAAAGACCAGTATAATCTTCTTAAAATACAGCTAG
GAAAAGACAATCAGCATCAAGGTTCTTACAGTGAGGGGGCTCAGATGAATGGCATTCAGCCAGAAGAAATTGGTAGATTGCGAGAAGAGATAGAAGAATTAAAACGTAATCAGGAACTTTTACAAAGC
CAGCTGACTGAAAAGGACTCTATGATTGAAAATATGAAATCTTCCCAAACATCTGGCACAAATGAACAGTCTTCAGCAATAGTTTCAGCTAGAGATTCTGAACAAGTTGCAGAATTAAAACAGGAACT
GGCAACTTTAAAGTCTCAGTTAAACTCACAATCTGTGGAGATCACCAAACTACAGACAGAAAAGCAGGAACTGTTACAGAAAACAGAAGCGTTTGCAAAATCAGTTGAGGTACAAGGAGAGACCGAGA
CTATAATAGCCACCAAAACTACTGATGTAGAAGGAAGACTGTCAGCATTATTACAAGAGACCAAAGAGTTAAAGAATGAAATTAAAGCTCTGTCTGAGGAAAGAACTGCCATTAAAGAGCAGCTGGAT
TCATCTAATAGTACCATTGCCATTTTACAAACTGAGAAAGACAAACTAGAGTTGGAAATTACAGATTCTAAAAAAGAACAAGATGATCTCTTGGTGCTCTTGGCCGATCAAGATCAGAAAATACTGTC
ATTGAAGAATAAACTCAAGGATCTTGGTCATCCAGTTGAAGAAGAGGATGAACTTGAATCTGGAGACCAAGAGGATGAGGATGATGAAAGTGAAGATCCTGGCAAGGATCTAGATCATATCTAGTTTT
CAAATCTCTAGGAACAATAGAGATTATATCATAACTCTGAAGATGGACTCTAAACTTTGGTTTACCTCCATGGAAAATAAAGATTTAGAAACCAGGTGGAAAACATTCACTATTAAGACTATTGATAT
ATTTTTGTAATGTTGCCACCCATGTTGAAAACCTTAAAACTGAATTTATGTAGAACACACATCTTTTATTTAAATCCATCTGAACTGTCCCAAAATGTAATTTGCAAAGAGCTTCAAACACCAAAAAT
ATACCATTTTAAGGCATGTGGTGACAATGCTATTTGCCTTAGTTCATTCGTTGTTTACTTTGCAAAATTTGTGACTTTTAAGTACTAACACATTTGATTGAATGTGTATTGAATTGGAATTATTATTT
CTAAATTCAGCATTTGAGTCCTTAGTTGATGATTTTCTTTTAAAGAAATTAGTTTATTTAAAAGCAAGATAGCCTGGGTTGGGAGTTAGTGCATATCATCAGCCCTCCATCTAATGTGATTGCTAAGA
TGTGCAGGATAGGACAGCTTAGAATGAGTGCCTTGACACCTACATATGGCTGCATTCCATACCTCAGTGAAGAAGCCGAAGGATGCTGACACACAGTGATGTGGAGGGCATTCCGGAGAAACTTTTGC
AACAGTGTATTAATGTGATTGGTTTTCTTTTTGTTTTAAGCTAAACATCTAAAACAAATTTCAAGTTAACAGTTCATACAACTCAGATTTAGTAGTATTGTTTATCATAAAACATATTATGTTCCTAG
TTTTAAAAAGACCCAAAGTATGATTAATATAATTTATTGGCATTTTTGCTGAATAGGTTTAAGTCAGATAATAGATTTTAAAAAAGCAAATGAGGCAATGTGTCAAAATTTAATGTTTCATAATAAAA
ATAGATACGTTGACTTAATCCTTGGTCATGGTTCCCTTTGTTTACATCTTAAAAGTATTTTATTCTTAATAAAAGATGAGGCAAGTGAAAA

hide sequence

RefSeq Acc Id:

XM_006714396 ⟹ XP_006714459

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	75,724,577 - 75,814,286 (+)	NCBI

Sequence:

show sequence

GCAGTGGGTGGGGCTTCGGCGGAACCTAGCTAAGAGGTTCCTCTCGCCTCCGCTCCCCTTTTGCCTTCAACCTTCGAGCCGCCACGTAATGCCACGTCCCCGCGCATGCGCATCTTGGCCGCTGCTGG
CGGCTGTTTCCGGGCTTAGAGGGCTGGAGTGGCCGCCGAGTTGGAGGCGGTGGTGGCAGCAGTAGGAGTGTGTAGAGTGCGGGATTGGGGCCCAGGCCCTGCGGAGGGCGGGGGAAGTTGTCTTCTTT
TTTTTCCGGAGGGGCCGGTAAACCTGGTGGCTGAACGGCAAGATGAATTTCCTCCGCGGGGTAATGGGGGGTCAGAGTGCCGGACCCCAGCACACAGAAGCCGAGACGATTCAAAAGCTTTGTGACAG
AGTAGCTTCATCTACTTTATTGGATGATCGAAGAAATGCTGTTCGTGCTCTCAAATCATTATCTAAGAAATACCGCTTGGAAGTGGGTATACAAGCTATGGAACATCTTATTCATGTTTTACAAACAG
ATCGTTCAGATTCTGAAATAATAGGTTATGCTTTGGACACACTATATAATATAATATCTAATGAAGAAGAAGAAGAAGTAGAAGAAAATTCCACAAGACAGAGTGAAGATTTGGGAAGCCAATTTACA
GAAATTTTCATTAAGCAGCAGGAAAATGTCACTCTTCTGTTATCTTTATTGGAGGAGTTTGATTTCCATGTCCGCTGGCCTGGTGTGAAGCTTCTTACTTCTCTTTTAAAACAACTAGGGCCTCAGGT
GCAACAAATTATTTTAGTCAGTCCTATGGGTGTTTCAAGATTGATGGACTTACTAGCGGATTCCAGGGAAGTTATACGTAATGATGGCGTCTTACTACTGCAGGCACTAACAAGAAGCAATGGTGCAA
TCCAGAAAATTGTTGCTTTTGAAAATGCTTTCGAGAGACTACTGGACATTATTTCAGAGGAGGGGAACAGTGATGGAGGTATAGTAGTTGAAGATTGTTTGATTTTGCTCCAAAACTTATTAAAAAAC
AACAACTCCAATCAAAATTTTTTTAAAGAAGGCTCATATATTCAACGTATGAAACCTTGGTTTGAAGTTGGAGATGAAAATTCTGGCTGGTCTGCACAGAAAGTGACCAATCTACATCTAATGCTACA
GCTTGTTCGTGTATTGGTATCTCCCACCAACCCTCCTGGTGCTACCAGTAGCTGCCAGAAGGCTATGTTCCAGTGTGGGTTATTGCAGCAGCTTTGTACTATCCTAATGGCTACTGGGGTTCCTGCTG
ATATCCTGACTGAGACCATAAATACTGTATCAGAAGTTATTCGAGGCTGCCAAGTAAACCAAGACTACTTTGCATCTGTAAATGCACCTTCAAACCCACCAAGACCGGCAATTGTAGTACTTCTCATG
TCCATGGTTAATGAAAGGCAGCCATTTGTTTTGCGCTGTGCTGTTCTCTATTGTTTCCAGTGTTTCTTGTATAAAAACCAAAAAGGACAAGGAGAAATCGTGTCAACACTTTTACCTTCTACCATTGA
TGCAACAGGTAATTCAGTTTCAGCTGGCCAGTTATTATGTGGAGGTTTGTTTTCTACTGATTCACTTTCAAACTGGTGTGCTGCTGTGGCCCTTGCCCATGCGTTGCAAGAAAATGCCACCCAGAAAG
AACAGTTGCTCAGGGTTCAACTTGCTACAAGTATTGGCAACCCTCCAGTTTCTTTACTTCAACAGTGCACCAATATTCTTTCACAGGGTGATAAGATCGACAGACGGGGAAGCAAAATACAAACAAGA
GTTGGATTATTAATGTTGCTTTGTACCTGGCTAAGCAATTGTCCCATTGCAGTAACGCATTTTCTTCACAATTCAGCCAATGTTCCATTTCTTACAGGACAAATTGCAGAAAATCTTGGAGAAGAAGA
GCAGTTGGTCCAAGGCTTATGTGCCCTTTTGTTGGGCATTTCGATTTATTTCAATGATAACTCACTTGAGAGCTACATGAAAGAGAAGCTAAAACAACTGATTGAGAAGAGGATTGGCAAAGAGAATT
TCATAGAGAAACTAGGATTTATTAGCAAACATGAGTTGTATTCCAGAGCATCTCAGAAACCCCAGCCAAACTTTCCCAGTCCAGAATACATGATATTTGATCATGAGTTTACGAAGCTGGTAAAAGAA
CTTGAAGGTGTTATAACTAAGGCTATTTATAAGTCCAGTGAAGAAGATAAAAAAGAAGAAGAGGTGAAAAAAACATTAGAACAGCATGACAATATTGTGACTCACTACAAAAATATGATTCGAGAGCA
GGATCTCCAACTTGAGGAATTAAGGCAGCAGGTTTCTACATTAAAATGTCAAAATGAACAGCTCCAGACGGCAGTCACACAGCAAGTATCACAGATCCAGCAGCACAAAGACCAGTATAATCTTCTTA
AAATACAGCTAGGAAAAGACAATCAGCATCAAGGTTCTTACAGTGAGGGGGCTCAGATGAATGGCATTCAGCCAGAAGAAATTGGTAGATTGCGAGAAGAGATAGAAGAATTAAAACGTAATCAGGAA
CTTTTACAAAGCCAGCTGACTGAAAAGGACTCTATGATTGAAAATATGAAATCTTCCCAAACATCTGGCACAAATGAACAGTCTTCAGCAATAGTTTCAGCTAGAGATTCTGAACAAGTTGCAGAATT
AAAACAGGAACTGGCAACTTTAAAGTCTCAGTTAAACTCACAATCTGTGGAGATCACCAAACTACAGACAGAAAAGCAGGAACTGTTACAGAAAACAGAAGCGTTTGCAAAATCAGTTGAGGTACAAG
GAGAGACCGAGACTATAATAGCCACCAAAACTACTGATGTAGAAGGAAGACTGTCAGCATTATTACAAGAGACCAAAGAGTTAAAGAATGAAATTAAAGCTCTGTCTGAGGAAAGAACTGCCATTAAA
GAGCAGCTGGATTCATCTAATAGTACCATTGCCATTTTACAAACTGAGAAAGACAAACTAGAGTTGGAAATTACAGATTCTAAAAAAGAACAAGATGATCTCTTGGTGCTCTTGGCCGATCAAGATCA
GAAAATACTGTCATTGAAGAATAAACTCAAGGATCTTGGTCATCCAGTTGAAGAAGAGGATGAACTTGAATCTGGAGACCAAGAGGATGAGGATGATGAAAGTGAAGATCCTGGCAAGGATCTAGATC
ATATCTAGTTTTCAAATCTCTAGGAACAATAGAGATTATATCATAACTCTGAAGATGGACTCTAAACTTTGGTTTACCTCCATGGAAAATAAAGATTTAGAAACCAGGTGGAAAACATTCACTATTAA
GACTATTGATATATTTTTGTAATGTTGCCACCCATGTTGAAAACCTTAAAACTGAATTTATGTAGAACACACATCTTTTATTTAAATCCATCTGAACTGTCCCAAAATGTAATTTGCAAAGAGCTTCA
AACACCAAAAATATACCATTTTAAGGCATGTGGTGACAATGCTATTTGCCTTAGTTCATTCGTTGTTTACTTTGCAAAATTTGTGACTTTTAAGTACTAACACATTTGATTGAATGTGTATTGAATTG
GAATTATTATTTCTAAATTCAGCATTTGAGTCCTTAGTTGATGATTTTCTTTTAAAGAAATTAGTTTATTTAAAAGCAAGATAGCCTGGGTTGGGAGTTAGTGCATATCATCAGCCCTCCATCTAATG
TGATTGCTAAGATGTGCAGGATAGGACAGCTTAGAATGAGTGCCTTGACACCTACATATGGCTGCATTCCATACCTCAGTGAAGAAGCCGAAGGATGCTGACACACAGTGATGTGGAGGGCATTCCGG
AGAAACTTTTGCAACAGTGTATTAATGTGATTGGTTTTCTTTTTGTTTTAAGCTAAACATCTAAAACAAATTTCAAGTTAACAGTTCATACAACTCAGATTTAGTAGTATTGTTTATCATAAAACATA
TTATGTTCCTAGTTTTAAAAAGACCCAAAGTATGATTAATATAATTTATTGGCATTTTTGCTGAATAGGTTTAAGTCAGATAATAGATTTTAAAAAAGCAAATGAGGCAATGTGTCAAAATTTAATGT
TTCATAATAAAAATAGATACGTTGACTTAA

hide sequence

RefSeq Acc Id:

XM_006714397 ⟹ XP_006714460

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	75,724,577 - 75,814,286 (+)	NCBI

Sequence:

show sequence

GCAGTGGGTGGGGCTTCGGCGGAACCTAGCTAAGAGGTTCCTCTCGCCTCCGCTCCCCTTTTGC
CTTCAACCTTCGAGCCGCCACGTAATGCCACGTCCCCGCGCATGCGCATCTTGGCCGCTGCTGGCGGCTGTTTCCGGGCTTAGAGGGCTGGAGTGGCCGCCGAGTTGGAGGCGGTGGTGGCAGCAGTA
GGAGTGTGTAGAGTGCGGGATTGGGGCCCAGGCCCTGCGGAGGGCGGGGGAAGTTGTCTTCTTTTTTTTCCGGAGGGGCCGGTAAACCTGGTGGCTGAACGGCAAGATGAATTTCCTCCGCGGGGTAA
TGGGGGGTCAGAGTGCCGGACCCCAGCACACAGAAGCCGAGACGATTCAAAAGCTTTGTGACAGAGTAGCTTCATCTACTTTATTGGATGATCGAAGAAATGCTGTTCGTGCTCTCAAATCATTATCT
AAGAAATACCGCTTGGAAGTGGGTATACAAGCTATGGAACATCTTATTCATGTTTTACAAACAGATCGTTCAGATTCTGAAATAATAGGTTATGCTTTGGACACACTATATAATATAATATCTAATGA
AGAAGAAGAAGAAGTAGATGATGTTGAAGAAGAAAATTCCACAAGACAGAGTGAAGATTTGGGAAGCCAATTTACAGAAATTTTCATTAAGCAGCAGGAAAATGTCACTCTTCTGTTATCTTTATTGG
AGGAGTTTGATTTCCATGTCCGCTGGCCTGGTGTGAAGCTTCTTACTTCTCTTTTAAAACAACTAGGGCCTCAGGTGCAACAAATTATTTTAGTCAGTCCTATGGGTGTTTCAAGATTGATGGACTTA
CTAGCGGATTCCAGGGAAGTTATACGTAATGATGGCGTCTTACTACTGCAGGCACTAACAAGAAGCAATGGTGCAATCCAGAAAATTGTTGCTTTTGAAAATGCTTTCGAGAGACTACTGGACATTAT
TTCAGAGGAGGGGAACAGTGATGGAGGTATAGTAGTTGAAGATTGTTTGATTTTGCTCCAAAACTTATTAAAAAACAACAACTCCAATCAAAATTTTTTTAAAGAAGGCTCATATATTCAACGTATGA
AACCTTGGTTTGAAGTTGGAGATGAAAATTCTGGCTGGTCTGCACAGAAAGTGACCAATCTACATCTAATGCTACAGCTTGTTCGTGTATTGGTATCTCCCACCAACCCTCCTGGTGCTACCAGTAGC
TGCCAGAAGGCTATGTTCCAGTGTGGGTTATTGCAGCAGCTTTGTACTATCCTAATGGCTACTGGGGTTCCTGCTGATATCCTGACTGAGACCATAAATACTGTATCAGAAGTTATTCGAGGCTGCCA
AGTAAACCAAGACTACTTTGCATCTGTAAATGCACCTTCAAACCCACCAAGACCGGCAATTGTAGTACTTCTCATGTCCATGGTTAATGAAAGGCAGCCATTTGTTTTGCGCTGTGCTGTTCTCTATT
GTTTCCAGTGTTTCTTGTATAAAAACCAAAAAGGACAAGGAGAAATCGTGTCAACACTTTTACCTTCTACCATTGATGCAACAGGTAATTCAGTTTCAGCTGGCCAGTTATTATGTGGAGGTTTGTTT
TCTACTGATTCACTTTCAAACTGGTGTGCTGCTGTGGCCCTTGCCCATGCGTTGCAAGAAAATGCCACCCAGAAAGAACAGTTGCTCAGGGTTCAACTTGCTACAAGTATTGGCAACCCTCCAGTTTC
TTTACTTCAACAGTGCACCAATATTCTTTCACAGGGAAGCAAAATACAAACAAGAGTTGGATTATTAATGTTGCTTTGTACCTGGCTAAGCAATTGTCCCATTGCAGTAACGCATTTTCTTCACAATT
CAGCCAATGTTCCATTTCTTACAGGACAAATTGCAGAAAATCTTGGAGAAGAAGAGCAGTTGGTCCAAGGCTTATGTGCCCTTTTGTTGGGCATTTCGATTTATTTCAATGATAACTCACTTGAGAGC
TACATGAAAGAGAAGCTAAAACAACTGATTGAGAAGAGGATTGGCAAAGAGAATTTCATAGAGAAACTAGGATTTATTAGCAAACATGAGTTGTATTCCAGAGCATCTCAGAAACCCCAGCCAAACTT
TCCCAGTCCAGAATACATGATATTTGATCATGAGTTTACGAAGCTGGTAAAAGAACTTGAAGGTGTTATAACTAAGGCTATTTATAAGTCCAGTGAAGAAGATAAAAAAGAAGAAGAGGTGAAAAAAA
CATTAGAACAGCATGACAATATTGTGACTCACTACAAAAATATGATTCGAGAGCAGGATCTCCAACTTGAGGAATTAAGGCAGCAGGTTTCTACATTAAAATGTCAAAATGAACAGCTCCAGACGGCA
GTCACACAGCAAGTATCACAGATCCAGCAGCACAAAGACCAGTATAATCTTCTTAAAATACAGCTAGGAAAAGACAATCAGCATCAAGGTTCTTACAGTGAGGGGGCTCAGATGAATGGCATTCAGCC
AGAAGAAATTGGTAGATTGCGAGAAGAGATAGAAGAATTAAAACGTAATCAGGAACTTTTACAAAGCCAGCTGACTGAAAAGGACTCTATGATTGAAAATATGAAATCTTCCCAAACATCTGGCACAA
ATGAACAGTCTTCAGCAATAGTTTCAGCTAGAGATTCTGAACAAGTTGCAGAATTAAAACAGGAACTGGCAACTTTAAAGTCTCAGTTAAACTCACAATCTGTGGAGATCACCAAACTACAGACAGAA
AAGCAGGAACTGTTACAGAAAACAGAAGCGTTTGCAAAATCAGTTGAGGTACAAGGAGAGACCGAGACTATAATAGCCACCAAAACTACTGATGTAGAAGGAAGACTGTCAGCATTATTACAAGAGAC
CAAAGAGTTAAAGAATGAAATTAAAGCTCTGTCTGAGGAAAGAACTGCCATTAAAGAGCAGCTGGATTCATCTAATAGTACCATTGCCATTTTACAAACTGAGAAAGACAAACTAGAGTTGGAAATTA
CAGATTCTAAAAAAGAACAAGATGATCTCTTGGTGCTCTTGGCCGATCAAGATCAGAAAATACTGTCATTGAAGAATAAACTCAAGGATCTTGGTCATCCAGTTGAAGAAGAGGATGAACTTGAATCT
GGAGACCAAGAGGATGAGGATGATGAAAGTGAAGATCCTGGCAAGGATCTAGATCATATCTAGTTTTCAAATCTCTAGGAACAATAGAGATTATATCATAACTCTGAAGATGGACTCTAAACTTTGGT
TTACCTCCATGGAAAATAAAGATTTAGAAACCAGGTGGAAAACATTCACTATTAAGACTATTGATATATTTTTGTAATGTTGCCACCCATGTTGAAAACCTTAAAACTGAATTTATGTAGAACACACA
TCTTTTATTTAAATCCATCTGAACTGTCCCAAAATGTAATTTGCAAAGAGCTTCAAACACCAAAAATATACCATTTTAAGGCATGTGGTGACAATGCTATTTGCCTTAGTTCATTCGTTGTTTACTTT
GCAAAATTTGTGACTTTTAAGTACTAACACATTTGATTGAATGTGTATTGAATTGGAATTATTATTTCTAAATTCAGCATTTGAGTCCTTAGTTGATGATTTTCTTTTAAAGAAATTAGTTTATTTAA
AAGCAAGATAGCCTGGGTTGGGAGTTAGTGCATATCATCAGCCCTCCATCTAATGTGATTGCTAAGATGTGCAGGATAGGACAGCTTAGAATGAGTGCCTTGACACCTACATATGGCTGCATTCCATA
CCTCAGTGAAGAAGCCGAAGGATGCTGACACACAGTGATGTGGAGGGCATTCCGGAGAAACTTTTGCAACAGTGTATTAATGTGATTGGTTTTCTTTTTGTTTTAAGCTAAACATCTAAAACAAATTT
CAAGTTAACAGTTCATACAACTCAGATTTAGTAGTATTGTTTATCATAAAACATATTATGTTCCTAGTTTTAAAAAGACCCAAAGTATGATTAATATAATTTATTGGCATTTTTGCTGAATAGGTTTA
AGTCAGATAATAGATTTTAAAAAAGCAAATGAGGCAATGTGTCAAAATTTAATGTTTCATAATAAAAATAGATACGTTGACTTAA

hide sequence

RefSeq Acc Id:

XM_054351145 ⟹ XP_054207120

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	79,064,705 - 79,154,419 (+)	NCBI

RefSeq Acc Id:

XM_054351146 ⟹ XP_054207121

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	79,064,705 - 79,154,419 (+)	NCBI


Protein RefSeqs	NP_001276978	(Get FASTA)	NCBI Sequence Viewer
	NP_003706	(Get FASTA)	NCBI Sequence Viewer
	XP_006714459	(Get FASTA)	NCBI Sequence Viewer
	XP_006714460	(Get FASTA)	NCBI Sequence Viewer
	XP_054207120	(Get FASTA)	NCBI Sequence Viewer
	XP_054207121	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH06398	(Get FASTA)	NCBI Sequence Viewer
	AAH32654	(Get FASTA)	NCBI Sequence Viewer
	BAA25300	(Get FASTA)	NCBI Sequence Viewer
	BAG36947	(Get FASTA)	NCBI Sequence Viewer
	CAD89917	(Get FASTA)	NCBI Sequence Viewer
	CCQ43231	(Get FASTA)	NCBI Sequence Viewer
	EAX05749	(Get FASTA)	NCBI Sequence Viewer
	EAX05750	(Get FASTA)	NCBI Sequence Viewer
	EAX05751	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000264904
	ENSP00000264904.7
	ENSP00000444850
	ENSP00000444850.2
GenBank Protein	O60763	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_003706 ⟸ NM_003715
- Peptide Label:	isoform 2
- UniProtKB:	Q86TB8 (UniProtKB/Swiss-Prot), Q6PK63 (UniProtKB/Swiss-Prot), B2RAQ0 (UniProtKB/Swiss-Prot), Q8N592 (UniProtKB/Swiss-Prot), O60763 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNFLRGVMGGQSAGPQHTEAETIQKLCDRVASSTLLDDRRNAVRALKSLSKKYRLEVGIQAMEHLIHVLQTDRSDSEIIGYALDTLYNIISNEEEEEVEENSTRQSEDLGSQFTEIFIKQQENVTLLL SLLEEFDFHVRWPGVKLLTSLLKQLGPQVQQIILVSPMGVSRLMDLLADSREVIRNDGVLLLQALTRSNGAIQKIVAFENAFERLLDIISEEGNSDGGIVVEDCLILLQNLLKNNNSNQNFFKEGSYI QRMKPWFEVGDENSGWSAQKVTNLHLMLQLVRVLVSPTNPPGATSSCQKAMFQCGLLQQLCTILMATGVPADILTETINTVSEVIRGCQVNQDYFASVNAPSNPPRPAIVVLLMSMVNERQPFVLRCA VLYCFQCFLYKNQKGQGEIVSTLLPSTIDATGNSVSAGQLLCGGLFSTDSLSNWCAAVALAHALQENATQKEQLLRVQLATSIGNPPVSLLQQCTNILSQGSKIQTRVGLLMLLCTWLSNCPIAVTHF LHNSANVPFLTGQIAENLGEEEQLVQGLCALLLGISIYFNDNSLESYMKEKLKQLIEKRIGKENFIEKLGFISKHELYSRASQKPQPNFPSPEYMIFDHEFTKLVKELEGVITKAIYKSSEEDKKEEE VKKTLEQHDNIVTHYKNMIREQDLQLEELRQQVSTLKCQNEQLQTAVTQQVSQIQQHKDQYNLLKIQLGKDNQHQGSYSEGAQMNGIQPEEIGRLREEIEELKRNQELLQSQLTEKDSMIENMKSSQT SGTNEQSSAIVSARDSEQVAELKQELATLKSQLNSQSVEITKLQTEKQELLQKTEAFAKSVEVQGETETIIATKTTDVEGRLSALLQETKELKNEIKALSEERTAIKEQLDSSNSTIAILQTEKDKLE LEITDSKKEQDDLLVLLADQDQKILSLKNKLKDLGHPVEEEDELESGDQEDEDDESEDPGKDLDHI hide sequence

RefSeq Acc Id:

XP_006714460 ⟸ XM_006714397

- Peptide Label:

isoform X2

- Sequence:

show sequence

MNFLRGVMGGQSAGPQHTEAETIQKLCDRVASSTLLDDRRNAVRALKSLSKKYRLEVGIQAMEHLIHVLQTDRSDSEIIGYALDTLYNIISNEEEEEVDDVEEENSTRQSEDLGSQFTEIFIKQQENV
TLLLSLLEEFDFHVRWPGVKLLTSLLKQLGPQVQQIILVSPMGVSRLMDLLADSREVIRNDGVLLLQALTRSNGAIQKIVAFENAFERLLDIISEEGNSDGGIVVEDCLILLQNLLKNNNSNQNFFKE
GSYIQRMKPWFEVGDENSGWSAQKVTNLHLMLQLVRVLVSPTNPPGATSSCQKAMFQCGLLQQLCTILMATGVPADILTETINTVSEVIRGCQVNQDYFASVNAPSNPPRPAIVVLLMSMVNERQPFV
LRCAVLYCFQCFLYKNQKGQGEIVSTLLPSTIDATGNSVSAGQLLCGGLFSTDSLSNWCAAVALAHALQENATQKEQLLRVQLATSIGNPPVSLLQQCTNILSQGSKIQTRVGLLMLLCTWLSNCPIA
VTHFLHNSANVPFLTGQIAENLGEEEQLVQGLCALLLGISIYFNDNSLESYMKEKLKQLIEKRIGKENFIEKLGFISKHELYSRASQKPQPNFPSPEYMIFDHEFTKLVKELEGVITKAIYKSSEEDK
KEEEVKKTLEQHDNIVTHYKNMIREQDLQLEELRQQVSTLKCQNEQLQTAVTQQVSQIQQHKDQYNLLKIQLGKDNQHQGSYSEGAQMNGIQPEEIGRLREEIEELKRNQELLQSQLTEKDSMIENMK
SSQTSGTNEQSSAIVSARDSEQVAELKQELATLKSQLNSQSVEITKLQTEKQELLQKTEAFAKSVEVQGETETIIATKTTDVEGRLSALLQETKELKNEIKALSEERTAIKEQLDSSNSTIAILQTEK
DKLELEITDSKKEQDDLLVLLADQDQKILSLKNKLKDLGHPVEEEDELESGDQEDEDDESEDPGKDLDHI

hide sequence

RefSeq Acc Id:

XP_006714459 ⟸ XM_006714396

- Peptide Label:

isoform X1

- Sequence:

show sequence

MNFLRGVMGGQSAGPQHTEAETIQKLCDRVASSTLLDDRRNAVRALKSLSKKYRLEVGIQAMEHLIHVLQTDRSDSEIIGYALDTLYNIISNEEEEEVEENSTRQSEDLGSQFTEIFIKQQENVTLLL
SLLEEFDFHVRWPGVKLLTSLLKQLGPQVQQIILVSPMGVSRLMDLLADSREVIRNDGVLLLQALTRSNGAIQKIVAFENAFERLLDIISEEGNSDGGIVVEDCLILLQNLLKNNNSNQNFFKEGSYI
QRMKPWFEVGDENSGWSAQKVTNLHLMLQLVRVLVSPTNPPGATSSCQKAMFQCGLLQQLCTILMATGVPADILTETINTVSEVIRGCQVNQDYFASVNAPSNPPRPAIVVLLMSMVNERQPFVLRCA
VLYCFQCFLYKNQKGQGEIVSTLLPSTIDATGNSVSAGQLLCGGLFSTDSLSNWCAAVALAHALQENATQKEQLLRVQLATSIGNPPVSLLQQCTNILSQGDKIDRRGSKIQTRVGLLMLLCTWLSNC
PIAVTHFLHNSANVPFLTGQIAENLGEEEQLVQGLCALLLGISIYFNDNSLESYMKEKLKQLIEKRIGKENFIEKLGFISKHELYSRASQKPQPNFPSPEYMIFDHEFTKLVKELEGVITKAIYKSSE
EDKKEEEVKKTLEQHDNIVTHYKNMIREQDLQLEELRQQVSTLKCQNEQLQTAVTQQVSQIQQHKDQYNLLKIQLGKDNQHQGSYSEGAQMNGIQPEEIGRLREEIEELKRNQELLQSQLTEKDSMIE
NMKSSQTSGTNEQSSAIVSARDSEQVAELKQELATLKSQLNSQSVEITKLQTEKQELLQKTEAFAKSVEVQGETETIIATKTTDVEGRLSALLQETKELKNEIKALSEERTAIKEQLDSSNSTIAILQ
TEKDKLELEITDSKKEQDDLLVLLADQDQKILSLKNKLKDLGHPVEEEDELESGDQEDEDDESEDPGKDLDHI

hide sequence

RefSeq Acc Id:	NP_001276978 ⟸ NM_001290049
- Peptide Label:	isoform 1
- UniProtKB:	O60763 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNFLRGVMGGQSAGPQHTEAETIQKLCDRVASSTLLDDRRNAVRALKSLSKKYRLEVGIQAMEHLIHVLQTDRSDSEIIGYALDTLYNIISNEEEEEVDDVEEENSTRQSEDLGSQFTEIFIKQQENV TLLLSLLEEFDFHVRWPGVKLLTSLLKQLGPQVQQIILVSPMGVSRLMDLLADSREVIRNDGVLLLQALTRSNGAIQKIVAFENAFERLLDIISEEGNSDGGIVVEDCLILLQNLLKNNNSNQNFFKE GSYIQRMKPWFEVGDENSGWSAQKVTNLHLMLQLVRVLVSPTNPPGATSSCQKAMFQCGLLQQLCTILMATGVPADILTETINTVSEVIRGCQVNQDYFASVNAPSNPPRPAIVVLLMSMVNERQPFV LRCAVLYCFQCFLYKNQKGQGEIVSTLLPSTIDATGNSVSAGQLLCGGLFSTDSLSNWCAAVALAHALQENATQKEQLLRVQLATSIGNPPVSLLQQCTNILSQGDKIDRRGSKIQTRVGLLMLLCTW LSNCPIAVTHFLHNSANVPFLTGQIAENLGEEEQLVQGLCALLLGISIYFNDNSLESYMKEKLKQLIEKRIGKENFIEKLGFISKHELYSRASQKPQPNFPSPEYMIFDHEFTKLVKELEGVITKAIY KSSEEDKKEEEVKKTLEQHDNIVTHYKNMIREQDLQLEELRQQVSTLKCQNEQLQTAVTQQVSQIQQHKDQYNLLKIQLGKDNQHQGSYSEGAQMNGIQPEEIGRLREEIEELKRNQELLQSQLTEKD SMIENMKSSQTSGTNEQSSAIVSARDSEQVAELKQELATLKSQLNSQSVEITKLQTEKQELLQKTEAFAKSVEVQGETETIIATKTTDVEGRLSALLQETKELKNEIKALSEERTAIKEQLDSSNSTI AILQTEKDKLELEITDSKKEQDDLLVLLADQDQKILSLKNKLKDLGHPVEEEDELESGDQEDEDDESEDPGKDLDHI hide sequence

Ensembl Acc Id:

ENSP00000444850 ⟸ ENST00000514213

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O60763-F1-model_v2	AlphaFold	O60763	1-962	view protein structure

RGD ID:

6867754

Promoter ID:

EPDNEW_H7042

Type:

initiation region

Name:

USO1_1

Description:

USO1 vesicle transport factor

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	75,724,578 - 75,724,638	EPDNEW

RGD ID:

6802758

Promoter ID:

HG_KWN:48506

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000264904, NM_003715, UC003HIU.1, UC010IIY.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	76,868,471 - 76,869,377 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	USO1	COSMIC
Ensembl Genes	ENSG00000138768	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000264904	ENTREZGENE
	ENST00000264904.8	UniProtKB/Swiss-Prot
	ENST00000514213	ENTREZGENE
	ENST00000514213.7	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.10.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000138768	GTEx
HGNC ID	HGNC:30904	ENTREZGENE
Human Proteome Map	USO1	Human Proteome Map
InterPro	ARM-like	UniProtKB/Swiss-Prot
	ARM-type_fold	UniProtKB/Swiss-Prot
	Armadillo	UniProtKB/Swiss-Prot
	P115_Arm_rpt	UniProtKB/Swiss-Prot
	Uso1_p115_C	UniProtKB/Swiss-Prot
	Vesicle_P115	UniProtKB/Swiss-Prot
	Vesicle_Uso1_P115_head	UniProtKB/Swiss-Prot
KEGG Report	hsa:8615	UniProtKB/Swiss-Prot
NCBI Gene	8615	ENTREZGENE
OMIM	603344	OMIM
PANTHER	GENERAL VESICULAR TRANSPORT FACTOR P115	UniProtKB/Swiss-Prot
	GENERAL VESICULAR TRANSPORT FACTOR P115	UniProtKB/Swiss-Prot
Pfam	Arm_vescicular	UniProtKB/Swiss-Prot
	Uso1_p115_C	UniProtKB/Swiss-Prot
	Uso1_p115_head	UniProtKB/Swiss-Prot
PharmGKB	PA162408713	PharmGKB
PROSITE	ARM_REPEAT	UniProtKB/Swiss-Prot
SMART	ARM	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48371	UniProtKB/Swiss-Prot
UniProt	B2RAQ0	ENTREZGENE
	L8E922_HUMAN	UniProtKB/TrEMBL
	O60763	ENTREZGENE
	Q6PK63	ENTREZGENE
	Q86TB8	ENTREZGENE
	Q8N592	ENTREZGENE
	USO1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B2RAQ0	UniProtKB/Swiss-Prot
	Q6PK63	UniProtKB/Swiss-Prot
	Q86TB8	UniProtKB/Swiss-Prot
	Q8N592	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-12-12	USO1	USO1 vesicle transport factor	USO1	USO1 vesicle docking protein homolog (yeast)	Symbol and/or name change	5135510	APPROVED
2011-07-27	USO1	USO1 vesicle docking protein homolog (yeast)	USO1	USO1 homolog, vesicle docking protein (yeast)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - ClinVar