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Gene: GBP5 (guanylate binding protein 5) Homo sapiens

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Symbol:

GBP5

Name:

guanylate binding protein 5

RGD ID:

1322285

HGNC Page

HGNC:19895

Description:

Enables GTPase activity; endopeptidase inhibitor activity; and protein homodimerization activity. Involved in several processes, including defense response to other organism; positive regulation of NLRP3 inflammasome complex assembly; and positive regulation of interleukin-1 beta production. Located in perinuclear region of cytoplasm. Is active in Golgi membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

GBP-5; GBP-TA antigen; GTP-binding protein 5; guanine nucleotide-binding protein 5; guanylate-binding protein 5

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	1	89,256,189 - 89,272,860 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	89,256,189 - 89,272,860 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	89,721,872 - 89,738,543 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	89,498,853 - 89,511,119 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	89,438,285 - 89,450,552	NCBI
Celera	1	87,970,432 - 87,984,342 (-)	NCBI		Celera
Cytogenetic Map	1	p22.2	NCBI
HuRef	1	87,841,845 - 87,855,755 (-)	NCBI		HuRef
CHM1_1	1	89,839,681 - 89,853,590 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	89,099,549 - 89,116,218 (-)	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)
GBP5	Human	Neurodevelopmental Disorders		IAGP	RGD:40814647	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GBP5	Human	celiac disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:30097691

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GBP5	Human	1,2-dichloroethane	increases expression	ISO	RGD:1322286	6480464	ethylene dichloride results in increased expression of GBP5 mRNA	CTD	PMID:28960355
GBP5	Human	1,2-dimethylhydrazine	decreases expression	ISO	RGD:1322286	6480464	1,2-Dimethylhydrazine results in decreased expression of GBP5 mRNA	CTD	PMID:22206623
GBP5	Human	17beta-estradiol	decreases expression	ISO	RGD:1322286	6480464	Estradiol results in decreased expression of GBP5 mRNA	CTD	PMID:39298647
GBP5	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	EXP		6480464	Tetrachlorodibenzodioxin results in decreased expression of GBP5 mRNA	CTD	PMID:17101203
GBP5	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1311040	6480464	Tetrachlorodibenzodioxin results in increased expression of GBP5 mRNA	CTD	PMID:33387578
GBP5	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1322286	6480464	Tetrachlorodibenzodioxin affects the expression of GBP5 mRNA	CTD	PMID:21570461\|PMID:26377647
GBP5	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1311040	6480464	Tetrachlorodibenzodioxin affects the expression of GBP5 mRNA	CTD	PMID:22298810\|PMID:34747641
GBP5	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	RGD:1311040	6480464	4,4'-diaminodiphenylmethane results in increased expression of GBP5 mRNA	CTD	PMID:30723492
GBP5	Human	4,4'-sulfonyldiphenol	multiple interactions	ISO	RGD:1322286	6480464	[bisphenol S co-treated with Tretinoin] results in increased expression of GBP5 mRNA	CTD	PMID:30951980
GBP5	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	RGD:1322286	6480464	bisphenol S results in decreased expression of GBP5 mRNA	CTD	PMID:39298647
GBP5	Human	4-hydroxynon-2-enal	decreases expression	ISO	RGD:1322286	6480464	4-hydroxy-2-nonenal results in decreased expression of GBP5 mRNA	CTD	PMID:19191707
GBP5	Human	6-propyl-2-thiouracil	affects expression	ISO	RGD:1311040	6480464	Propylthiouracil affects the expression of GBP5 mRNA	CTD	PMID:24780913
GBP5	Human	6-propyl-2-thiouracil	decreases expression	ISO	RGD:1311040	6480464	Propylthiouracil results in decreased expression of GBP5 mRNA	CTD	PMID:25825206
GBP5	Human	7,12-dimethyltetraphene	increases expression	ISO	RGD:1311040	6480464	9,10-Dimethyl-1,2-benzanthracene results in increased expression of GBP5 mRNA	CTD	PMID:19480007
GBP5	Human	acetamide	increases expression	ISO	RGD:1311040	6480464	acetamide results in increased expression of GBP5 mRNA	CTD	PMID:31881176
GBP5	Human	aflatoxin B1	increases expression	ISO	RGD:1311040	6480464	Aflatoxin B1 results in increased expression of GBP5 mRNA	CTD	PMID:25378103
GBP5	Human	all-trans-retinoic acid	multiple interactions	ISO	RGD:1322286	6480464	[bisphenol F co-treated with Tretinoin] results in increased expression of GBP5 mRNA; [bisphenol S co-treated more ...	CTD	PMID:30951980
GBP5	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of GBP5 mRNA	CTD	PMID:33167477
GBP5	Human	amphetamine	decreases expression	ISO	RGD:1311040	6480464	Amphetamine results in decreased expression of GBP5 mRNA	CTD	PMID:30779732
GBP5	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of GBP5 mRNA	CTD	PMID:24449571
GBP5	Human	arsane	affects expression	EXP		6480464	Arsenic affects the expression of GBP5 mRNA	CTD	PMID:18414638
GBP5	Human	arsenic atom	affects expression	EXP		6480464	Arsenic affects the expression of GBP5 mRNA	CTD	PMID:18414638
GBP5	Human	arsenous acid	multiple interactions	EXP		6480464	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to GBP5 protein]	CTD	PMID:26598702
GBP5	Human	benzo[a]pyrene	decreases expression	ISO	RGD:1322286	6480464	Benzo(a)pyrene results in decreased expression of GBP5 mRNA	CTD	PMID:21569818
GBP5	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of GBP5 3' UTR	CTD	PMID:27901495
GBP5	Human	benzo[a]pyrene	increases expression	ISO	RGD:1322286	6480464	Benzo(a)pyrene results in increased expression of GBP5 mRNA	CTD	PMID:23735875
GBP5	Human	bisphenol A	affects expression	ISO	RGD:1311040	6480464	bisphenol A affects the expression of GBP5 mRNA	CTD	PMID:25181051
GBP5	Human	bisphenol A	increases expression	ISO	RGD:1322286	6480464	bisphenol A results in increased expression of GBP5 mRNA	CTD	PMID:32156529
GBP5	Human	bisphenol A	decreases expression	ISO	RGD:1322286	6480464	bisphenol A results in decreased expression of GBP5 mRNA	CTD	PMID:35598803
GBP5	Human	bisphenol A	decreases expression	ISO	RGD:1311040	6480464	bisphenol A results in decreased expression of GBP5 mRNA	CTD	PMID:32145629
GBP5	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of GBP5 mRNA	CTD	PMID:29718440
GBP5	Human	bisphenol F	multiple interactions	ISO	RGD:1322286	6480464	[bisphenol F co-treated with Tretinoin] results in increased expression of GBP5 mRNA	CTD	PMID:30951980
GBP5	Human	buta-1,3-diene	decreases expression	ISO	RGD:1322286	6480464	1,3-butadiene results in decreased expression of GBP5 mRNA	CTD	PMID:29038090
GBP5	Human	butanal	increases expression	EXP		6480464	butyraldehyde results in increased expression of GBP5 mRNA	CTD	PMID:26079696
GBP5	Human	carbon nanotube	affects expression	ISO	RGD:1322286	6480464	Nanotubes, Carbon affects the expression of GBP5 mRNA	CTD	PMID:25554681
GBP5	Human	carbon nanotube	increases expression	EXP		6480464	Nanotubes, Carbon results in increased expression of GBP5 mRNA	CTD	PMID:29348435
GBP5	Human	carbon nanotube	increases expression	ISO	RGD:1322286	6480464	Nanotubes, Carbon analog results in increased expression of GBP5 mRNA	CTD	PMID:25554681
GBP5	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to GBP5 gene]	CTD	PMID:28238834
GBP5	Human	copper atom	increases expression	ISO	RGD:1311040	6480464	Copper deficiency results in increased expression of GBP5 mRNA	CTD	PMID:26033743
GBP5	Human	copper(0)	increases expression	ISO	RGD:1311040	6480464	Copper deficiency results in increased expression of GBP5 mRNA	CTD	PMID:26033743
GBP5	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of GBP5 mRNA	CTD	PMID:19549813
GBP5	Human	Cuprizon	increases expression	ISO	RGD:1311040	6480464	Cuprizone results in increased expression of GBP5 mRNA	CTD	PMID:26577399\|PMID:27523638
GBP5	Human	diarsenic trioxide	multiple interactions	EXP		6480464	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to GBP5 protein]	CTD	PMID:26598702
GBP5	Human	dibenz[a,h]anthracene	increases expression	ISO	RGD:1322286	6480464	1,2,5,6-dibenzanthracene results in increased expression of GBP5 mRNA	CTD	PMID:26377693
GBP5	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of GBP5 mRNA	CTD	PMID:37042841
GBP5	Human	dioxygen	multiple interactions	ISO	RGD:1311040	6480464	[dan-shen root extract co-treated with Andrographis paniculata extract] inhibits the reaction [[Oxygen deficiency co-treated with more ...	CTD	PMID:33729688
GBP5	Human	diquat	decreases expression	ISO	RGD:1322286	6480464	Diquat results in decreased expression of GBP5 mRNA; Diquat results in decreased expression of GBP5 more ...	CTD	PMID:36851058
GBP5	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of GBP5 mRNA	CTD	PMID:29803840
GBP5	Human	endosulfan	decreases expression	ISO	RGD:1311040	6480464	Endosulfan results in decreased expression of GBP5 mRNA	CTD	PMID:29391264
GBP5	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of GBP5 mRNA	CTD	PMID:28937961
GBP5	Human	gentamycin	increases expression	ISO	RGD:1311040	6480464	Gentamicins results in increased expression of GBP5 mRNA	CTD	PMID:33387578
GBP5	Human	lipopolysaccharide	increases expression	EXP		6480464	Lipopolysaccharides results in increased expression of GBP5 mRNA	CTD	PMID:35811015
GBP5	Human	lipopolysaccharide	multiple interactions	ISO	RGD:1322286	6480464	[Quercetin co-treated with Lipopolysaccharides] results in decreased expression of GBP5 mRNA	CTD	PMID:38823456
GBP5	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[S-(1,2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of GBP5 mRNA; [S-(1,2-dichlorovinyl)cysteine more ...	CTD	PMID:35811015
GBP5	Human	malathion	increases expression	EXP		6480464	Malathion results in increased expression of GBP5 mRNA	CTD	PMID:37047231
GBP5	Human	manganese(II) chloride	increases expression	ISO	RGD:1311040	6480464	manganese chloride results in increased expression of GBP5 mRNA	CTD	PMID:28801915
GBP5	Human	manganese(II) chloride	increases methylation	ISO	RGD:1311040	6480464	manganese chloride results in increased methylation of GBP5 gene	CTD	PMID:28801915
GBP5	Human	methcathinone	increases expression	EXP		6480464	monomethylpropion results in increased expression of GBP5 mRNA	CTD	PMID:22303338
GBP5	Human	methylmercury chloride	increases expression	ISO	RGD:1311040	6480464	methylmercuric chloride results in increased expression of GBP5 mRNA	CTD	PMID:31378766
GBP5	Human	microcystin-LR	increases expression	EXP		6480464	cyanoginosin LR results in increased expression of GBP5 mRNA	CTD	PMID:29518473
GBP5	Human	microcystin-LR	increases expression	ISO	RGD:1322286	6480464	cyanoginosin LR results in increased expression of GBP5 mRNA	CTD	PMID:37342990
GBP5	Human	N-methyl-4-phenylpyridinium	increases expression	ISO	RGD:1311040	6480464	1-Methyl-4-phenylpyridinium results in increased expression of GBP5 mRNA	CTD	PMID:28801915
GBP5	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of GBP5 mRNA	CTD	PMID:24768652\|PMID:25583101
GBP5	Human	paracetamol	affects expression	ISO	RGD:1322286	6480464	Acetaminophen affects the expression of GBP5 mRNA	CTD	PMID:17562736
GBP5	Human	paracetamol	decreases expression	ISO	RGD:1311040	6480464	Acetaminophen results in decreased expression of GBP5 mRNA	CTD	PMID:33387578
GBP5	Human	perfluorooctane-1-sulfonic acid	decreases expression	EXP		6480464	perfluorooctane sulfonic acid results in decreased expression of GBP5 mRNA	CTD	PMID:27153767
GBP5	Human	quercetin	multiple interactions	ISO	RGD:1322286	6480464	[Quercetin co-treated with Lipopolysaccharides] results in decreased expression of GBP5 mRNA	CTD	PMID:38823456
GBP5	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	[S-(1,2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of GBP5 mRNA; [S-(1,2-dichlorovinyl)cysteine more ...	CTD	PMID:35811015
GBP5	Human	T-2 toxin	increases expression	ISO	RGD:1322286	6480464	T-2 Toxin results in increased expression of GBP5 mRNA	CTD	PMID:36775139
GBP5	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of GBP5 mRNA	CTD	PMID:31758290
GBP5	Human	thioacetamide	increases expression	ISO	RGD:1311040	6480464	Thioacetamide results in increased expression of GBP5 mRNA	CTD	PMID:34492290
GBP5	Human	titanium dioxide	decreases expression	ISO	RGD:1322286	6480464	titanium dioxide results in decreased expression of GBP5 mRNA	CTD	PMID:27760801
GBP5	Human	trichloroethene	increases expression	ISO	RGD:1311040	6480464	Trichloroethylene results in increased expression of GBP5 mRNA	CTD	PMID:33387578
GBP5	Human	triptonide	affects expression	ISO	RGD:1322286	6480464	triptonide affects the expression of GBP5 mRNA	CTD	PMID:33045310
GBP5	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of GBP5 gene	CTD	PMID:29154799
GBP5	Human	zoledronic acid	increases expression	EXP		6480464	zoledronic acid results in increased expression of GBP5 mRNA	CTD	PMID:24714768

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)
GBP5	Human	activation of innate immune response	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	AIM2 inflammasome complex assembly	acts_upstream_of_or_within	ISO	RGD:1322286	9068941	PMID:27693356	UniProt	PMID:27693356
GBP5	Human	cellular response to lipopolysaccharide	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	cellular response to type II interferon	involved_in	IEP		150520179	PMID:17266443	UniProt	PMID:17266443
GBP5	Human	cellular response to type II interferon	acts_upstream_of_or_within	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	cellular response to type II interferon	involved_in	IBA	MGI:102772\|MGI:2429943\|MGI:95666\|PANTHER:PTN000079228\|UniProtKB:P32455\|UniProtKB:P32456\|UniProtKB:Q96PP8	150520179		GO_Central	GO_REF:0000033
GBP5	Human	cytolysis in another organism	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	cytolysis in another organism	involved_in	ISS	UniProtKB:Q8CFB4	150520179		UniProt	GO_REF:0000024
GBP5	Human	defense response to bacterium	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	defense response to bacterium	acts_upstream_of_or_within	ISO	RGD:1322286	9068941	PMID:27693356, PMID:33469160	UniProt	PMID:27693356\|PMID:33469160
GBP5	Human	defense response to virus	involved_in	IDA		150520179	PMID:26996307, PMID:31091448	UniProt	PMID:26996307\|PMID:31091448
GBP5	Human	disruption of plasma membrane integrity in another organism	acts_upstream_of_or_within	ISO	RGD:1322286	9068941	PMID:27693356	UniProt	PMID:27693356
GBP5	Human	immune system process	involved_in	IEA	UniProtKB-KW:KW-0391	150520179		UniProt	GO_REF:0000043
GBP5	Human	inflammatory response	involved_in	IEA	UniProtKB-KW:KW-0395	150520179		UniProt	GO_REF:0000043
GBP5	Human	innate immune response	involved_in	IEA	UniProtKB-KW:KW-0399	150520179		UniProt	GO_REF:0000043
GBP5	Human	non-canonical inflammasome complex assembly	acts_upstream_of_or_within	ISO	RGD:1322286	9068941	PMID:25119034	UniProt	PMID:25119034
GBP5	Human	positive regulation of AIM2 inflammasome complex assembly	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	positive regulation of AIM2 inflammasome complex assembly	involved_in	ISS	UniProtKB:Q8CFB4	150520179		UniProt	GO_REF:0000024
GBP5	Human	positive regulation of cytokine production involved in inflammatory response	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	positive regulation of cytokine production involved in inflammatory response	involved_in	ISS	UniProtKB:Q8CFB4	150520179		UniProt	GO_REF:0000024
GBP5	Human	positive regulation of innate immune response	involved_in	ISS	UniProtKB:Q8CFB4	150520179		UniProt	GO_REF:0000024
GBP5	Human	positive regulation of innate immune response	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	positive regulation of interleukin-1 beta production	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	positive regulation of interleukin-1 beta production	involved_in	IMP		150520179	PMID:22461501	UniProt	PMID:22461501
GBP5	Human	positive regulation of interleukin-18 production	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	positive regulation of interleukin-18 production	involved_in	ISS	UniProtKB:Q8CFB4	150520179		UniProt	GO_REF:0000024
GBP5	Human	positive regulation of NLRP3 inflammasome complex assembly	involved_in	IDA		150520179	PMID:22461501	UniProt	PMID:22461501
GBP5	Human	positive regulation of pyroptotic inflammatory response	involved_in	ISS	UniProtKB:Q8CFB4	150520179		UniProt	GO_REF:0000024
GBP5	Human	positive regulation of pyroptotic inflammatory response	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	protein homotetramerization	involved_in	IDA		150520179	PMID:22461501	UniProt	PMID:22461501
GBP5	Human	protein localization to Golgi apparatus	involved_in	IDA		150520179	PMID:21151871	UniProt	PMID:21151871
GBP5	Human	protein targeting	involved_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	response to bacterium	acts_upstream_of_or_within	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107

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)
GBP5	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
GBP5	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
GBP5	Human	cytoplasm	located_in	IDA		150520179	PMID:17266443	UniProt	PMID:17266443
GBP5	Human	cytoplasmic vesicle	located_in	IEA	UniProtKB-KW:KW-0968	150520179		UniProt	GO_REF:0000043
GBP5	Human	cytoplasmic vesicle	located_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107
GBP5	Human	cytoplasmic vesicle	is_active_in	IBA	MGI:102772\|MGI:2429943\|MGI:95666\|PANTHER:PTN000079228\|UniProtKB:P32455	150520179		GO_Central	GO_REF:0000033
GBP5	Human	cytoplasmic vesicle membrane	located_in	IEA	UniProtKB-SubCell:SL-0089	150520179		UniProt	GO_REF:0000044
GBP5	Human	Golgi apparatus	located_in	IEA	UniProtKB-KW:KW-0333	150520179		UniProt	GO_REF:0000043
GBP5	Human	Golgi apparatus	is_active_in	IDA		150520179	PMID:26996307, PMID:31091448	UniProt	PMID:26996307\|PMID:31091448
GBP5	Human	Golgi apparatus	located_in	IDA		150520179	PMID:17266443, PMID:21151871	UniProt	PMID:17266443\|PMID:21151871
GBP5	Human	Golgi membrane	located_in	IEA	UniProtKB-SubCell:SL-0134	150520179		UniProt	GO_REF:0000044
GBP5	Human	Golgi membrane	is_active_in	IDA		150520179	PMID:31091448	UniProt	PMID:31091448
GBP5	Human	membrane	located_in	HDA		150520179	PMID:19946888	UniProt	PMID:19946888
GBP5	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
GBP5	Human	perinuclear region of cytoplasm	located_in	IDA		150520179	PMID:21151871	UniProt	PMID:21151871
GBP5	Human	side of membrane	located_in	IEA	UniProtKB-KW:KW-0336	150520179		UniProt	GO_REF:0000043
GBP5	Human	symbiont cell surface	is_active_in	IEA	UniProtKB:Q8CFB4\|ensembl:ENSMUSP00000087587	150520179		Ensembl	GO_REF:0000107

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)
GBP5	Human	endopeptidase inhibitor activity	enables	IDA		150520179	PMID:31091448	UniProt	PMID:31091448
GBP5	Human	GTP binding	enables	IEA	UniProtKB-KW:KW-0342	150520179		UniProt	GO_REF:0000043
GBP5	Human	GTP binding	enables	IBA	FB:FBgn0039213\|MGI:106611\|MGI:2444421\|PANTHER:PTN000079086\|RGD:1359232\|UniProtKB:P32455	150520179		GO_Central	GO_REF:0000033
GBP5	Human	GTP binding	enables	IEA	InterPro:IPR003191\|InterPro:IPR015894\|InterPro:IPR030386\|InterPro:IPR036543	150520179		InterPro	GO_REF:0000002
GBP5	Human	GTPase activity	enables	IEA	InterPro:IPR003191\|InterPro:IPR015894\|InterPro:IPR036543\|InterPro:IPR037684	150520179		InterPro	GO_REF:0000002
GBP5	Human	GTPase activity	enables	IEA	RHEA:19669	150520179		RHEA	GO_REF:0000116
GBP5	Human	GTPase activity	enables	IBA	FB:FBgn0039213\|MGI:106611\|MGI:2444421\|MGI:95666\|PANTHER:PTN000079086\|RGD:1359232\|TAIR:locus:2024203\|TAIR:locus:2161358\|UniProtKB:P32455\|UniProtKB:Q8WXF7\|UniProtKB:Q96PP8	150520179		GO_Central	GO_REF:0000033
GBP5	Human	GTPase activity	enables	IDA		150520179	PMID:26996307, PMID:33876762	UniProt	PMID:26996307\|PMID:33876762
GBP5	Human	hydrolase activity	enables	IEA	UniProtKB-KW:KW-0378	150520179		UniProt	GO_REF:0000043
GBP5	Human	identical protein binding	enables	IPI	UniProtKB:Q96PP8	150520179	PMID:16189514, PMID:20180847, PMID:21151871	IntAct	PMID:16189514\|PMID:20180847\|PMID:21151871
GBP5	Human	molecular function inhibitor activity	enables	IDA		150520179	PMID:31091448	UniProt	PMID:31091448
GBP5	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043
GBP5	Human	protein binding	enables	IPI	UniProtKB:P32455	150520179	PMID:28514442, PMID:33961781	IntAct	PMID:28514442\|PMID:33961781
GBP5	Human	protein binding	enables	IPI	UniProtKB:P32455\|UniProtKB:P32456\|UniProtKB:Q96PP9\|UniProtKB:Q9H0R5	150520179	PMID:21151871	IntAct	PMID:21151871
GBP5	Human	protein binding	enables	IPI	UniProtKB:Q96P20	150520179	PMID:22461501	UniProt	PMID:22461501
GBP5	Human	protein homodimerization activity	enables	IDA		150520179	PMID:21151871, PMID:33876762	UniProt	PMID:21151871\|PMID:33876762

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12477932	PMID:12975309	PMID:14996095	PMID:15175044	PMID:15489334	PMID:16189514	PMID:17266443	PMID:18260761	PMID:19946888	PMID:20180847	PMID:20237496	PMID:21151871
PMID:21873635	PMID:22461501	PMID:23333304	PMID:23898208	PMID:25980612	PMID:26025597	PMID:26996307	PMID:28298427	PMID:28376501	PMID:28514442	PMID:28580591	PMID:28941629
PMID:29618166	PMID:30021884	PMID:30408130	PMID:31091448	PMID:32796072	PMID:33608513	PMID:33615742	PMID:33876762	PMID:33961781	PMID:34958688	PMID:35369870	PMID:38050666
PMID:38185269	PMID:38531874	PMID:38978333	PMID:39212413

GBP5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	89,256,189 - 89,272,860 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	89,256,189 - 89,272,860 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	89,721,872 - 89,738,543 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	89,498,853 - 89,511,119 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	89,438,285 - 89,450,552	NCBI
Celera	1	87,970,432 - 87,984,342 (-)	NCBI		Celera
Cytogenetic Map	1	p22.2	NCBI
HuRef	1	87,841,845 - 87,855,755 (-)	NCBI		HuRef
CHM1_1	1	89,839,681 - 89,853,590 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	89,099,549 - 89,116,218 (-)	NCBI		T2T-CHM13v2.0

Gbp5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	142,202,695 - 142,228,105 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	142,199,739 - 142,228,105 (+)	Ensembl		GRCm39 Ensembl
GRCm38	3	142,496,934 - 142,522,344 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	142,493,978 - 142,522,344 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	142,159,898 - 142,185,308 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	142,434,320 - 142,459,728 (+)	NCBI		MGSCv36	mm8
Celera	3	148,919,987 - 148,945,108 (+)	NCBI		Celera
Cytogenetic Map	3	H1	NCBI
cM Map	3	66.69	NCBI

Gbp5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	233,910,999 - 233,930,320 (+)	NCBI		GRCr8
mRatBN7.2	2	231,237,748 - 231,257,071 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	231,237,748 - 231,257,061 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	239,015,471 - 239,029,785 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	236,908,491 - 236,922,804 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	231,773,152 - 231,787,470 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	248,178,441 - 248,196,873 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	248,178,389 - 248,197,160 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	266,707,528 - 266,725,960 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	240,428,472 - 240,447,791 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	240,418,633 - 240,443,372 (+)	NCBI
Celera	2	223,291,514 - 223,305,610 (+)	NCBI		Celera
Cytogenetic Map	2	q44	NCBI

Gbp5
(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_004955423	4,917,590 - 4,926,007 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955423	4,914,430 - 4,926,850 (+)	NCBI	ChiLan1.0	ChiLan1.0

GBP5
(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	1	137,543,196 - 137,719,174 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	136,698,968 - 136,874,934 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	91,969,699 - 92,006,127 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	90,720,805 - 90,733,030 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	90,720,927 - 90,729,757 (-)	Ensembl	panpan1.1		panPan2

GBP5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	59,273,699 - 59,292,563 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	59,273,592 - 59,393,229 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	61,983,014 - 62,001,731 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	59,785,648 - 59,804,382 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	59,785,622 - 59,905,093 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	59,352,041 - 59,370,752 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	59,306,406 - 59,325,133 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	59,791,978 - 59,810,724 (+)	NCBI		UU_Cfam_GSD_1.0

Gbp5
(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 1.0	NW_004624742	8,324,902 - 8,335,965 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in GBP5
52 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]\|See cases [RCV000051825]	Chr1:72661709..107456880 [GRCh38] Chr1:73127392..107999502 [GRCh37] Chr1:72899980..107801025 [NCBI36] Chr1:1p31.1-13.3	pathogenic
NM_001134486.2(GBP5):c.1188G>A (p.Arg396=)	single nucleotide variant	Malignant melanoma [RCV000064935]	Chr1:89263910 [GRCh38] Chr1:89729593 [GRCh37] Chr1:89502181 [NCBI36] Chr1:1p22.2	not provided
NM_001134486.2(GBP5):c.1098C>A (p.Phe366Leu)	single nucleotide variant	Malignant melanoma [RCV000064936]	Chr1:89264737 [GRCh38] Chr1:89730420 [GRCh37] Chr1:89503008 [NCBI36] Chr1:1p22.2	not provided
NM_001134486.2(GBP5):c.828G>C (p.Met276Ile)	single nucleotide variant	Malignant melanoma [RCV000064937]	Chr1:89266386 [GRCh38] Chr1:89732069 [GRCh37] Chr1:89504657 [NCBI36] Chr1:1p22.2	not provided
NM_001134486.2(GBP5):c.826A>T (p.Met276Leu)	single nucleotide variant	Malignant melanoma [RCV000064938]	Chr1:89266388 [GRCh38] Chr1:89732071 [GRCh37] Chr1:89504659 [NCBI36] Chr1:1p22.2	not provided
NM_052942.5(GBP5):c.1745C>T (p.Pro582Leu)	single nucleotide variant	not provided [RCV000122577]	Chr1:89260720 [GRCh38] Chr1:89726403 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	copy number gain	See cases [RCV000135654]	Chr1:83457325..104273917 [GRCh38] Chr1:83923008..104816539 [GRCh37] Chr1:83695596..104618062 [NCBI36] Chr1:1p31.1-21.1	pathogenic
GRCh38/hg38 1p22.2(chr1:89193991-89480531)x1	copy number loss	See cases [RCV000142140]	Chr1:89193991..89480531 [GRCh38] Chr1:89659674..89946090 [GRCh37] Chr1:89432262..89718678 [NCBI36] Chr1:1p22.2	likely benign\|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	copy number loss	See cases [RCV000510161]	Chr1:72044544..92505091 [GRCh37] Chr1:1p31.1-22.1	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
NM_052942.5(GBP5):c.703A>G (p.Ile235Val)	single nucleotide variant	not provided [RCV000966127]	Chr1:89266511 [GRCh38] Chr1:89732194 [GRCh37] Chr1:1p22.2	benign
NM_052942.5(GBP5):c.158A>T (p.Tyr53Phe)	single nucleotide variant	not provided [RCV000958476]	Chr1:89269398 [GRCh38] Chr1:89735081 [GRCh37] Chr1:1p22.2	benign
GRCh37/hg19 1p22.2(chr1:89546802-90520362)x1	copy number loss	not provided [RCV000847004]	Chr1:89546802..90520362 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p22.2(chr1:89239549-89733747)x3	copy number gain	not provided [RCV000846500]	Chr1:89239549..89733747 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.698G>A (p.Cys233Tyr)	single nucleotide variant	not specified [RCV004300304]	Chr1:89266516 [GRCh38] Chr1:89732199 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.161T>G (p.Leu54Arg)	single nucleotide variant	not specified [RCV004320784]	Chr1:89269395 [GRCh38] Chr1:89735078 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.589G>C (p.Asp197His)	single nucleotide variant	not specified [RCV004318925]	Chr1:89266993 [GRCh38] Chr1:89732676 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.502_505dup (p.Ser169Ter)	duplication	Neurodevelopmental disorder [RCV001262179]	Chr1:89267076..89267077 [GRCh38] Chr1:89732759..89732760 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	copy number loss	not specified [RCV002053392]	Chr1:68180293..92731957 [GRCh37] Chr1:1p31.3-22.1	pathogenic
NM_052942.5(GBP5):c.1455A>C (p.Lys485Asn)	single nucleotide variant	not specified [RCV004308677]	Chr1:89262693 [GRCh38] Chr1:89728376 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.511A>C (p.Ser171Arg)	single nucleotide variant	not specified [RCV004193422]	Chr1:89267071 [GRCh38] Chr1:89732754 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1496C>T (p.Ala499Val)	single nucleotide variant	not specified [RCV004236352]	Chr1:89262371 [GRCh38] Chr1:89728054 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1342G>A (p.Glu448Lys)	single nucleotide variant	not specified [RCV004208559]	Chr1:89263756 [GRCh38] Chr1:89729439 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.812T>C (p.Ile271Thr)	single nucleotide variant	not specified [RCV004156353]	Chr1:89266402 [GRCh38] Chr1:89732085 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.209C>T (p.Thr70Met)	single nucleotide variant	not specified [RCV004190528]	Chr1:89268838 [GRCh38] Chr1:89734521 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1244C>T (p.Pro415Leu)	single nucleotide variant	not specified [RCV004106397]	Chr1:89263854 [GRCh38] Chr1:89729537 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1509G>C (p.Arg503Ser)	single nucleotide variant	not specified [RCV004181216]	Chr1:89262358 [GRCh38] Chr1:89728041 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.848G>T (p.Gly283Val)	single nucleotide variant	not specified [RCV004104465]	Chr1:89266366 [GRCh38] Chr1:89732049 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1187G>A (p.Arg396Gln)	single nucleotide variant	not specified [RCV004146472]	Chr1:89263911 [GRCh38] Chr1:89729594 [GRCh37] Chr1:1p22.2	likely benign
NM_052942.5(GBP5):c.1739A>G (p.Asp580Gly)	single nucleotide variant	not specified [RCV004197750]	Chr1:89260726 [GRCh38] Chr1:89726409 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.844G>C (p.Gly282Arg)	single nucleotide variant	not specified [RCV004246949]	Chr1:89266370 [GRCh38] Chr1:89732053 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1424A>C (p.Gln475Pro)	single nucleotide variant	not specified [RCV004253446]	Chr1:89262724 [GRCh38] Chr1:89728407 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.890C>T (p.Thr297Ile)	single nucleotide variant	not specified [RCV004322542]	Chr1:89264945 [GRCh38] Chr1:89730628 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1514C>T (p.Ala505Val)	single nucleotide variant	not specified [RCV004330807]	Chr1:89262353 [GRCh38] Chr1:89728036 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1352A>G (p.Lys451Arg)	single nucleotide variant	not specified [RCV004338635]	Chr1:89263746 [GRCh38] Chr1:89729429 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1	copy number loss	not provided [RCV003483216]	Chr1:87511398..90730302 [GRCh37] Chr1:1p22.3-22.2	uncertain significance
GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3	copy number gain	not provided [RCV003484021]	Chr1:88895486..91863052 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1737C>T (p.Asn579=)	single nucleotide variant	not provided [RCV003406601]	Chr1:89260728 [GRCh38] Chr1:89726411 [GRCh37] Chr1:1p22.2	likely benign
NM_052942.5(GBP5):c.418G>A (p.Asp140Asn)	single nucleotide variant	not specified [RCV004395281]	Chr1:89267427 [GRCh38] Chr1:89733110 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1448C>T (p.Thr483Met)	single nucleotide variant	not specified [RCV004395277]	Chr1:89262700 [GRCh38] Chr1:89728383 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1542G>A (p.Met514Ile)	single nucleotide variant	not specified [RCV004395278]	Chr1:89262325 [GRCh38] Chr1:89728008 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.520C>T (p.Pro174Ser)	single nucleotide variant	not specified [RCV004395282]	Chr1:89267062 [GRCh38] Chr1:89732745 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.119T>C (p.Val40Ala)	single nucleotide variant	not specified [RCV004395275]	Chr1:89269437 [GRCh38] Chr1:89735120 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.535A>G (p.Thr179Ala)	single nucleotide variant	not specified [RCV004395283]	Chr1:89267047 [GRCh38] Chr1:89732730 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1582C>G (p.Gln528Glu)	single nucleotide variant	not specified [RCV004395279]	Chr1:89262285 [GRCh38] Chr1:89727968 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1750G>A (p.Val584Ile)	single nucleotide variant	not specified [RCV004395280]	Chr1:89260715 [GRCh38] Chr1:89726398 [GRCh37] Chr1:1p22.2	likely benign
NM_052942.5(GBP5):c.27C>A (p.Asp9Glu)	single nucleotide variant	not specified [RCV004626664]	Chr1:89269529 [GRCh38] Chr1:89735212 [GRCh37] Chr1:1p22.2	likely benign
NM_052942.5(GBP5):c.1118A>C (p.Asp373Ala)	single nucleotide variant	not specified [RCV004626665]	Chr1:89264717 [GRCh38] Chr1:89730400 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.383A>G (p.Tyr128Cys)	single nucleotide variant	not specified [RCV004626666]	Chr1:89267462 [GRCh38] Chr1:89733145 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.32T>A (p.Met11Lys)	single nucleotide variant	not specified [RCV004626667]	Chr1:89269524 [GRCh38] Chr1:89735207 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1442C>A (p.Thr481Lys)	single nucleotide variant	not specified [RCV004626668]	Chr1:89262706 [GRCh38] Chr1:89728389 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1339C>T (p.Arg447Trp)	single nucleotide variant	not specified [RCV004626669]	Chr1:89263759 [GRCh38] Chr1:89729442 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.172C>A (p.Leu58Met)	single nucleotide variant	not specified [RCV004626671]	Chr1:89269384 [GRCh38] Chr1:89735067 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1303A>G (p.Ile435Val)	single nucleotide variant	not specified [RCV004623849]	Chr1:89263795 [GRCh38] Chr1:89729478 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p31.1-22.2(chr1:76492334-91166951)x1	copy number loss	not provided [RCV004819327]	Chr1:76492334..91166951 [GRCh37] Chr1:1p31.1-22.2	pathogenic
NM_052942.5(GBP5):c.443T>G (p.Leu148Arg)	single nucleotide variant	not specified [RCV004925171]	Chr1:89267139 [GRCh38] Chr1:89732822 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.317A>C (p.Lys106Thr)	single nucleotide variant	not specified [RCV004925172]	Chr1:89268730 [GRCh38] Chr1:89734413 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1403C>G (p.Ser468Cys)	single nucleotide variant	not specified [RCV004925173]	Chr1:89262745 [GRCh38] Chr1:89728428 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.988A>G (p.Ile330Val)	single nucleotide variant	not specified [RCV004924555]	Chr1:89264847 [GRCh38] Chr1:89730530 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.653A>G (p.Asn218Ser)	single nucleotide variant	not specified [RCV004924556]	Chr1:89266561 [GRCh38] Chr1:89732244 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.1000G>A (p.Asp334Asn)	single nucleotide variant	not specified [RCV004924557]	Chr1:89264835 [GRCh38] Chr1:89730518 [GRCh37] Chr1:1p22.2	uncertain significance
NM_052942.5(GBP5):c.112G>A (p.Val38Ile)	single nucleotide variant	not specified [RCV004925170]	Chr1:89269444 [GRCh38] Chr1:89735127 [GRCh37] Chr1:1p22.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	945
Count of miRNA genes:	604
Interacting mature miRNAs:	665
Transcripts:	ENST00000343435, ENST00000370459, ENST00000443807, ENST00000471171, ENST00000481145, ENST00000490568
Prediction methods:	Microtar, Miranda, Rnahybrid
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
2316890	GLUCO302_H	Glucose level QTL 302 (human)		0.005	Glucose level		1	68532992	94532992	Human
2289499	BW445_H	Body weight QTL 445 (human)	2.26		Body morphometry	waist to hip ratio	1	68532992	94532992	Human
1581539	BP75_H	Blood pressure QTL 75 (human)	2.4	0.001	Blood pressure	pulse pressure	1	68532992	94532992	Human
2292793	PRSTS24_H	Prostate tumor susceptibility QTL 24 (human)			Prostate tumor susceptibility	late onset	1	68532992	94532992	Human
1559226	SLEP4_H	Serum leptin concentration QTL 4 (human)	3.4		Hormone level	leptin	1	81532913	107532913	Human

SHGC-75115

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	89,724,924 - 89,725,083	UniSTS	GRCh37
Build 36	1	89,497,512 - 89,497,671	RGD	NCBI36
Celera	1	87,970,723 - 87,970,882	RGD
Cytogenetic Map	1	p22.2	UniSTS
HuRef	1	87,842,136 - 87,842,295	UniSTS
TNG Radiation Hybrid Map	1	43249.0	UniSTS
GeneMap99-GB4 RH Map	1	248.65	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	2371	2777	2225	4792	1719	2275	4	619	1898	461	2201	7151	6402	36	3621	820	1704	1549	170


RefSeq Transcripts	NG_052816	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001134486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001391920	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_052942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC099063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF288815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF328727	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF430642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF430643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK090479	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC031639	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD367361	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471097	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000370459 ⟹ ENSP00000359488

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,256,189 - 89,272,860 (-)	Ensembl

Ensembl Acc Id:

ENST00000443807 ⟹ ENSP00000403010

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,262,698 - 89,272,804 (-)	Ensembl

Ensembl Acc Id:

ENST00000471171

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,260,582 - 89,262,274 (-)	Ensembl

Ensembl Acc Id:

ENST00000481145

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,258,950 - 89,266,579 (-)	Ensembl

Ensembl Acc Id:

ENST00000490568

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,260,586 - 89,268,856 (-)	Ensembl

RefSeq Acc Id:

NM_001134486 ⟹ NP_001127958

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,256,189 - 89,272,860 (-)	NCBI
GRCh37	1	89,724,633 - 89,738,544 (-)	RGD
Celera	1	87,970,432 - 87,984,342 (-)	RGD
HuRef	1	87,841,845 - 87,855,755 (-)	ENTREZGENE
CHM1_1	1	89,839,681 - 89,853,590 (-)	NCBI
T2T-CHM13v2.0	1	89,099,549 - 89,116,218 (-)	NCBI

Sequence:

show sequence

ACTGAGGTCACCCTCCAGGCTGTGGAACCTTTGTTCTTTCACTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTGGGTCCACACTGCCTTTATGAGCTGTAACACTCACTGGGAATGTCTGCAGCT
TCACTCCTGAAGCCAGCGAGACCACGAACCCACCAGGAGGAACAAACAACTCCAGACGCGCAGCCTTAAGAGCTGTAACACTCACCGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCCAGACCACGA
ACCCACCAGAAGGAAGAAACTCCAAACACATCCGAACATCAGAAGGAGCAAACTCCTGACACGCCACCTTTAAGAACCGTGACACTCAACGCTAGGGTCCGCGGCTTCATTCTTGAAGTCAGTGAGAC
CAAGAACCCACCAATTCCGGACACGGCAAAGTAACATCCTAGACATGGCTTTAGAGATCCACATGTCAGACCCCATGTGCCTCATCGAGAACTTTAATGAGCAGCTGAAGGTTAATCAGGAAGCTTTG
GAGATCCTGTCTGCCATTACGCAACCTGTAGTTGTGGTAGCGATTGTGGGCCTCTATCGCACTGGCAAATCCTACCTGATGAACAAGCTGGCTGGGAAGAACAAGGGCTTCTCTGTTGCATCTACGGT
GCAGTCTCACACCAAGGGAATTTGGATATGGTGTGTGCCTCATCCCAACTGGCCAAATCACACATTAGTTCTGCTTGACACCGAGGGCCTGGGAGATGTAGAGAAGGCTGACAACAAGAATGATATCC
AGATCTTTGCACTGGCACTCTTACTGAGCAGCACCTTTGTGTACAATACTGTGAACAAAATTGATCAGGGTGCTATCGACCTACTGCACAATGTGACAGAACTGACAGATCTGCTCAAGGCAAGAAAC
TCACCCGACCTTGACAGGGTTGAAGATCCTGCTGACTCTGCGAGCTTCTTCCCAGACTTAGTGTGGACTCTGAGAGATTTCTGCTTAGGCCTGGAAATAGATGGGCAACTTGTCACACCAGATGAATA
CCTGGAGAATTCCCTAAGGCCAAAGCAAGGTAGTGATCAAAGAGTTCAAAATTTCAATTTGCCCCGTCTGTGTATACAGAAGTTCTTTCCAAAAAAGAAATGCTTTATCTTTGACTTACCTGCTCACC
AAAAAAAGCTTGCCCAACTTGAAACACTGCCTGATGATGAGCTAGAGCCTGAATTTGTGCAACAAGTGACAGAATTCTGTTCCTACATCTTTAGCCATTCTATGACCAAGACTCTTCCAGGTGGCATC
ATGGTCAATGGATCTCGTCTAAAGAACCTGGTGCTGACCTATGTCAATGCCATCAGCAGTGGGGATCTGCCTTGCATAGAGAATGCAGTCCTGGCCTTGGCTCAGAGAGAGAACTCAGCTGCAGTGCA
AAAGGCCATTGCCCACTATGACCAGCAAATGGGCCAGAAAGTGCAGCTGCCCATGGAAACCCTCCAGGAGCTGCTGGACCTGCACAGGACCAGTGAGAGGGAGGCCATTGAAGTCTTCATGAAAAACT
CTTTCAAGGATGTAGACCAAAGTTTCCAGAAAGAATTGGAGACTCTACTAGATGCAAAACAGAATGACATTTGTAAACGGAACCTGGAAGCATCCTCGGATTATTGCTCGGCTTTACTTAAGGATATT
TTTGGTCCTCTAGAAGAAGCAGTGAAGCAGGGAATTTATTCTAAGCCAGGAGGCCATAATCTCTTCATTCAGAAAACAGAAGAACTGAAGGCAAAGTACTATCGGGAGCCTCGGAAAGGAATACAGGC
TGAAGAAGTTCTGCAGAAATATTTAAAGTCCAAGGAGTCTGTGAGTCATGCAATATTACAGACTGACCAGGCTCTCACAGAGACGGAAAAAAAGAAGAAAGAGGCACAAGTGAAAGCAGAAGCTGAAA
AGGCTGAAGCGCAAAGGTTGGCGGCGATTCAAAGGCAGAACGAGCAAATGATGCAGGAGAGGGAGAGACTCCATCAGGAACAAGTGAGACAAATGGAGATAGCCAAACAAAATTGGCTGGCAGAGCAA
CAGAAAATGCAGGAACAACAGATGCAGGAACAGGCTGCACAGCTCAGCACAACATTCCAAGCTCAAAATAGAAGCCTTCTCAGTGAGCTCCAGCACGCCCAGAGGACTGTTAATAACGATGATCCATG
TGTTTTACTCTAAAGTGCTAAATATGGGAGTTTCCTTTTTTTACTCTTTGTCACTGATGACACAACAGAAAAGAAACTGTAGACCTTGGGACAATCAACATTTAAATAAACTTTATAATTATTTTTTC
AAACTTTCATATAGAGTTATAAGATTATGATGCTGGTATCTGGTAAAATGTACATCCCAGTAGTCCAATAGTTTAAATGTTTATTGCTTCCTTTAAGAGATTATAAATTGTATAAGGGACATTGTATC
ACTGCCTTCATTTATGCGTGATATTGGGATGGTTTCATCAGGAGATGCTTTCCTTGCATCTCAATGTCATCTGTCTAATTTCTCATAAGGGGATTATGTTACCTAGAGCAGGGCTTCCCAACCCTCAG
GCCATAGACTAGCTCTGATCTGTGGCCTCTTAGGAACCCGGCCACACAGCAGGAGGTGAGCAGCAGGTAAGTGAGCATTACAGCCTGAGCTCCACCTCCTGTCAGATCAGCAGTGACATTAGATTCTC
ACAGGAGTGGGAACCCTATTGTGAACTGTGCATGCAAAAGATCTAGGTTGTGTGATCCTTGTGGAACAATATAAACCAGAAACCAATAACGCCACCCCACCTCCAACCCCCGCCAACCCTCTGTGGAA
AAATTACCTTCCACGAAACTGGTCCCTGATGCCAAATAGGTTGGGGGACCGCTGACCTAGAGGGAGTTATGCACATGGGCTTATAAGGTTAGCCAAGAGAAAGGACAAGAAGACCCAAAGTCGGCAAG
CAAATTTATTAACCTGCTGGGCTGCTCTACAGAAATCTGAGGAGGCAGACACCGGGCTTACAGGCTAAGGGGTATAAGTAGGTCTGCAGGGGTTTTGTGTGTGTGTGCGGGGGTGTCGGGGGGGCAAG
GCCATTTGTGGAGACTTTTCCTCCCAGTATGGCCACATCCTGCAGTTTGTCAGTTTTTGCCCCCGCCTGGCTCAGGGTACCAGGATGTGGTTTAGCTTAGGGGTGGTTATAGTGGCACCTAAGTTCTG
GGAACTTGCGGTGGGGGCGACCTTTTGGACGAAAAATAAGCTGCAGGGCAGCTAGGGGAGGGGGCTTGTTATATTCCTCTGGGGGCAGGGTGTCCCTAACTGGGCTCAGTCGGAAGGAACTTGACCAA
AGTCTGGGCTCAGTTGGGCATCACTCAGGCTAATGGTCGTGTGCTGGATGCCATCAGAGGGAAGTACCAATGGTAAAGTGGAAACAATGTGCAGCTTTCAACTGGGTGGAGGCTGCTATTCTGTGGAC
AGTGAGATGTTTCCTTGGCACTGTCAATAGACAATCTGCGTAGAGAAATTCCAAGCTGAAAGCCAATAATGTTATAATAAAATAGAGATTCTTCAGAAGATGAAAGGAATTACCAGCATGGAAATTGT
GTCATAGGCTTAAGGGCTAAAGAAGAAGCCTTTTCTTTTCTGTTCACCCTCACCAAGAGCACAACTTAAATAGGGCATTTTATAACCTGAACACAATTTATATTGGACTTAATTATTATGTGTAATAT
GTTTATAATCCTTTAGATCTTATAAATATGTGGTATAAGGAATGCCATATAATGTGCCAAAAATCTGAGTGCATTTAATTTAATGCTTGCTTATAGTGCTAAAGTTAAATGATCTTAATTCTTTGCAA
TTATATATGAAAAATGACTGATTTTTCTTAAAATATGTAACTTATATAAATATATCTGTTTGTACAGATTTTAACCATAAAAACATTTTTGGAAAACCATAAATCAGTTCCTTTGTTTGTATTTTTCT
CAAAGTTAAAAGTCTATAGAGAAAGACTGAATTTCCCTAAGGAGATTAAGAATTGCTTTAAGACTAGAATTAAAACACACTTTATTACATCTTTTTATGTACTTTTTGTTACTTTGTTTTGTATATCT
CCAGTAAAATTTTTTTTGTTTAAATTATAGAAACATTACACAAAGCTCTGTTTTTCTCCCTTATAAGTACTTACTCATATAAGGAATTTTCCACTTAGGTAATATGATAGGAGCTTGAATTTTTTTAG
TCACCCAAAATATGATTTACTTATATACAGAAAAAAGCCGAAAAATTTTAGTGTCTGCTCTTTTTACTGTTCTTTGAAGAGCTTTAATATGAGGAATTTTTCATATCAGATAGGATGTGGTGCTACTC
AGCAGTATTTCTAGATTTGAACTGAAGTTCAGAAGGTACCAGCATATTCAACTGAGCATTTGTCTAGCAATACCCTACAATTACCTTTTCAAGCTGTGCAATTTATAAAGAAAAAAATACATTTTATC
ATCCAAGGAAATGTTATCAGTAAAAAGAATAGCTCTATCTCCAAATTAAATATTGATATCTTTATTACCCATCTTAAAGAAATTTTTTAAAATCCTGAGACTCAGAAAATTAAGTCATTTAAGGTTTC
ACACCTTGTTACTGTTAACCTAGACCATGTTACAAAGTAGTTGATTTCTAGTCTAATTTAACTTTTGCTATTATATCTCCCCCACCAAAAACCAGAGAGGCATGCTGCTTTCATTAGTGATCCACAGA
TATTCTTCCCCACCAGCTTCCCTGGATCCCACTCATCCCCAAATACTCTGATCTCACAGGTTAGAGATCTGTCACTGGGTGCAAAAGAACAAGAAAAGGCACTGTAAGGTAAACATTGATGATTTCTT
GAAACTACCAGTAAGTAGCTTATATTTTCTGACTTTCTTTGTCTTACTGTTGTGAAATCAACTGATCTAGTTTTAAATGTAATGAAAAGCAAAGCAATAGATTCTCCCCTAGAGCCTGCAGATGGAAT
GCAGCCTTGTTAACATCTTGATTTAAGCTTCACAGACTTCTGATTTCCAAAACTGTAAGATAATAAGCTTCTGTTGTTTTAAGCCACAAAATTAGTAATAATTTGTTATAGCAGCAATAGGAAACAAG
TACAAAATCTTTATTAGTTAATACTATGAATAGTTATTCATACCAGCTAAGAGATATTTGGAATTTATTATGGATCACTTTATTATGGTCACTGTAGTAATTCACCTGTTGCTCATAAAAACCTTATA
AACATTTAGTATTGTTTTATGGCAATTGTTATTTTAAACAATATTATCAATGTATGTTAGTGTTATCATTATTAAAGTTATTATTGTTAAAGCATTGAAATTAAATAAATTAAGGTCAGTACCACAGA
AGGCCTTTTGAATTTAGAACCCACATTAATAACCATCTTGTGGTACTTTCTTATCTTGCTTAGTGATACGGTTTGGCTGTGTCCACTCAAATCTCATCTTGAATTATGGCTCCCATAATGCCCACGTG
TTGTGGGAGGGACCAGGTGGGAGGTAATCAAATCATGGGGGTGGGTTTTCATGTGCTTTTTTCATGATAGTGAATAAGTCGCCTGAGATCTGATGGCTTCATAAAGGGCAATTCCCCTGCACATGCTC
TCTTGCCTGACACCATGTAAGATGTGCCTTTGTTCCTCTTTCATCTTCTGCTGTGGTTGTGAGGCCTCCCCACCCATGTGAAACTACAAGTCCATTACATCTCTTTTCCTTTATAAATTACCCAGTCT
TGAGTATTTCTTCATAGCAGTATGAAAATGGACTAATATACTTAGGAAAACATAGAAATACTGAATAATGTGTTAAAATTTAGAAGGAATTACTAAAATAATTGAAATCAAAAGCATAGATTCAAAAC
AATGTATAAGAATTCAGCACAAAATAAGCAGGTAAAGAAATTTCTAAAATGAAGTAGAGAAAATGTGGTAATGACTCTAGTGTATAACGATCACCAACAGAATAGAAAGTCCAAAAAATAGACTTTAT
AGGAATAATACAGGGTAAAGATAGACTTCTTAGTAGGTTGGGACTACTGGATGGCCATATAGGAAAAGATCAAGTTGTAACCAGACCTCACACACAATACACTAAAATAAGAAAAAGGAACCACACCC
AAATTGATAAAATATAAAATGTAAAACTATGAAAATGCATTTGAAGAAATCAAGGTTATGTTCTTCATAAACCTGTAGAGGAGAGGGCCTTTCTAAATGTGACTCAAAACTCTTGAAATCTCTCTTGA
CCCCATGTCTCAGTCAGTTTCAACACAATCTTTGTTCCCTTTCAAAGCAATATTTTAGTTAGTTACATCCCATTCTCTGTTTTTCAAAATTATTAAATGTGACACATACTGAAGAGTACAAAAAACAT
AAAATGTACAATATTCAATATAAATAAATTACAAGATGAACGCACAAGTAACAACCCAGGTACATACATTCAGCATTACTAAAATTCTATAGGTGTATATGACAACTTCTGACAACCCTGCTAGAGCC
AACTAATATCACAACTTTCACAACTATTTTCTAGGATTTTATTATAAACATGTGAGCTCCTAAGTAATGTAATTTTGTTTGGCCTGTTTTCAAACTTTATTTAAATGGAATTACATTGTTTGTATTCT
TTTATGCCTTGCTTCATTTGTTAATAAAATCTTTATAAGATTCATCTA

hide sequence

RefSeq Acc Id:

NM_001391920 ⟹ NP_001378849

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,256,189 - 89,272,860 (-)	NCBI
T2T-CHM13v2.0	1	89,099,549 - 89,116,218 (-)	NCBI

Sequence:

show sequence

ACTGAGGTCACCCTCCAGGCTGTGGAACCTTTGTTCTTTCACTCTTTGCAATAAATCTTGCTGC
TGCTCACTCTTTGGGTCCACACTGCCTTTATGAGCTGTAACACTCACTGGGAATGTCTGCAGCTTCACTCCTGAAGCCAGCGAGACCACGAACCCACCAGGAGGAACAAACAACTCCAGACGCGCAGC
CTTAAGAGCTGTAACACTCACCGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCCAGACCACGAACCCACCAGAAGGAAGAAACTCCAAACACATCCGAACATCAGAAGGAGCAAACTCCTGACACGC
CACCTTTAAGAACCGTGACACTCAACGCTAGGGTCCGCGGCTTCATTCTTGAAGTCAGTGAGACCAAGAACCCACCAATTCCGGACACGCTAATTGTTGTAGATCATCACTTCAAGGTGCCCATATCT
TTCTAGTGGAAAAATTATTCTGGCCTCCGCTGCATACAAATCAGGCAACCAGAATTCTACATATATAAGGCAAAGTAACATCCTAGACATGGCTTTAGAGATCCACATGTCAGACCCCATGTGCCTCA
TCGAGAACTTTAATGAGCAGCTGAAGGTTAATCAGGAAGCTTTGGAGATCCTGTCTGCCATTACGCAACCTGTAGTTGTGGTAGCGATTGTGGGCCTCTATCGCACTGGCAAATCCTACCTGATGAAC
AAGCTGGCTGGGAAGAACAAGGGCTTCTCTGTTGCATCTACGGTGCAGTCTCACACCAAGGGAATTTGGATATGGTGTGTGCCTCATCCCAACTGGCCAAATCACACATTAGTTCTGCTTGACACCGA
GGGCCTGGGAGATGTAGAGAAGGCTGACAACAAGAATGATATCCAGATCTTTGCACTGGCACTCTTACTGAGCAGCACCTTTGTGTACAATACTGTGAACAAAATTGATCAGGGTGCTATCGACCTAC
TGCACAATGTGACAGAACTGACAGATCTGCTCAAGGCAAGAAACTCACCCGACCTTGACAGGGTTGAAGATCCTGCTGACTCTGCGAGCTTCTTCCCAGACTTAGTGTGGACTCTGAGAGATTTCTGC
TTAGGCCTGGAAATAGATGGGCAACTTGTCACACCAGATGAATACCTGGAGAATTCCCTAAGGCCAAAGCAAGGTAGTGATCAAAGAGTTCAAAATTTCAATTTGCCCCGTCTGTGTATACAGAAGTT
CTTTCCAAAAAAGAAATGCTTTATCTTTGACTTACCTGCTCACCAAAAAAAGCTTGCCCAACTTGAAACACTGCCTGATGATGAGCTAGAGCCTGAATTTGTGCAACAAGTGACAGAATTCTGTTCCT
ACATCTTTAGCCATTCTATGACCAAGACTCTTCCAGGTGGCATCATGGTCAATGGATCTCGTCTAAAGAACCTGGTGCTGACCTATGTCAATGCCATCAGCAGTGGGGATCTGCCTTGCATAGAGAAT
GCAGTCCTGGCCTTGGCTCAGAGAGAGAACTCAGCTGCAGTGCAAAAGGCCATTGCCCACTATGACCAGCAAATGGGCCAGAAAGTGCAGCTGCCCATGGAAACCCTCCAGGAGCTGCTGGACCTGCA
CAGGACCAGTGAGAGGGAGGCCATTGAAGTCTTCATGAAAAACTCTTTCAAGGATGTAGACCAAAGTTTCCAGAAAGAATTGGAGACTCTACTAGATGCAAAACAGAATGACATTTGTAAACGGAACC
TGGAAGCATCCTCGGATTATTGCTCGGCTTTACTTAAGGATATTTTTGGTCCTCTAGAAGAAGCAGTGAAGCAGGGAATTTATTCTAAGCCAGGAGGCCATAATCTCTTCATTCAGAAAACAGAAGAA
CTGAAGGCAAAGTACTATCGGGAGCCTCGGAAAGGAATACAGGAACAGGCTGCACAGCTCAGCACAACATTCCAAGCTCAAAATAGAAGCCTTCTCAGTGAGCTCCAGCACGCCCAGAGGACTGTTAA
TAACGATGATCCATGTGTTTTACTCTAAAGTGCTAAATATGGGAGTTTCCTTTTTTTACTCTTTGTCACTGATGACACAACAGAAAAGAAACTGTAGACCTTGGGACAATCAACATTTAAATAAACTT
TATAATTATTTTTTCAAACTTTCATATAGAGTTATAAGATTATGATGCTGGTATCTGGTAAAATGTACATCCCAGTAGTCCAATAGTTTAAATGTTTATTGCTTCCTTTAAGAGATTATAAATTGTAT
AAGGGACATTGTATCACTGCCTTCATTTATGCGTGATATTGGGATGGTTTCATCAGGAGATGCTTTCCTTGCATCTCAATGTCATCTGTCTAATTTCTCATAAGGGGATTATGTTACCTAGAGCAGGG
CTTCCCAACCCTCAGGCCATAGACTAGCTCTGATCTGTGGCCTCTTAGGAACCCGGCCACACAGCAGGAGGTGAGCAGCAGGTAAGTGAGCATTACAGCCTGAGCTCCACCTCCTGTCAGATCAGCAG
TGACATTAGATTCTCACAGGAGTGGGAACCCTATTGTGAACTGTGCATGCAAAAGATCTAGGTTGTGTGATCCTTGTGGAACAATATAAACCAGAAACCAATAACGCCACCCCACCTCCAACCCCCGC
CAACCCTCTGTGGAAAAATTACCTTCCACGAAACTGGTCCCTGATGCCAAATAGGTTGGGGGACCGCTGACCTAGAGGGAGTTATGCACATGGGCTTATAAGGTTAGCCAAGAGAAAGGACAAGAAGA
CCCAAAGTCGGCAAGCAAATTTATTAACCTGCTGGGCTGCTCTACAGAAATCTGAGGAGGCAGACACCGGGCTTACAGGCTAAGGGGTATAAGTAGGTCTGCAGGGGTTTTGTGTGTGTGTGCGGGGG
TGTCGGGGGGGCAAGGCCATTTGTGGAGACTTTTCCTCCCAGTATGGCCACATCCTGCAGTTTGTCAGTTTTTGCCCCCGCCTGGCTCAGGGTACCAGGATGTGGTTTAGCTTAGGGGTGGTTATAGT
GGCACCTAAGTTCTGGGAACTTGCGGTGGGGGCGACCTTTTGGACGAAAAATAAGCTGCAGGGCAGCTAGGGGAGGGGGCTTGTTATATTCCTCTGGGGGCAGGGTGTCCCTAACTGGGCTCAGTCGG
AAGGAACTTGACCAAAGTCTGGGCTCAGTTGGGCATCACTCAGGCTAATGGTCGTGTGCTGGATGCCATCAGAGGGAAGTACCAATGGTAAAGTGGAAACAATGTGCAGCTTTCAACTGGGTGGAGGC
TGCTATTCTGTGGACAGTGAGATGTTTCCTTGGCACTGTCAATAGACAATCTGCGTAGAGAAATTCCAAGCTGAAAGCCAATAATGTTATAATAAAATAGAGATTCTTCAGAAGATGAAAGGAATTAC
CAGCATGGAAATTGTGTCATAGGCTTAAGGGCTAAAGAAGAAGCCTTTTCTTTTCTGTTCACCCTCACCAAGAGCACAACTTAAATAGGGCATTTTATAACCTGAACACAATTTATATTGGACTTAAT
TATTATGTGTAATATGTTTATAATCCTTTAGATCTTATAAATATGTGGTATAAGGAATGCCATATAATGTGCCAAAAATCTGAGTGCATTTAATTTAATGCTTGCTTATAGTGCTAAAGTTAAATGAT
CTTAATTCTTTGCAATTATATATGAAAAATGACTGATTTTTCTTAAAATATGTAACTTATATAAATATATCTGTTTGTACAGATTTTAACCATAAAAACATTTTTGGAAAACCATAAATCAGTTCCTT
TGTTTGTATTTTTCTCAAAGTTAAAAGTCTATAGAGAAAGACTGAATTTCCCTAAGGAGATTAAGAATTGCTTTAAGACTAGAATTAAAACACACTTTATTACATCTTTTTATGTACTTTTTGTTACT
TTGTTTTGTATATCTCCAGTAAAATTTTTTTTGTTTAAATTATAGAAACATTACACAAAGCTCTGTTTTTCTCCCTTATAAGTACTTACTCATATAAGGAATTTTCCACTTAGGTAATATGATAGGAG
CTTGAATTTTTTTAGTCACCCAAAATATGATTTACTTATATACAGAAAAAAGCCGAAAAATTTTAGTGTCTGCTCTTTTTACTGTTCTTTGAAGAGCTTTAATATGAGGAATTTTTCATATCAGATAG
GATGTGGTGCTACTCAGCAGTATTTCTAGATTTGAACTGAAGTTCAGAAGGTACCAGCATATTCAACTGAGCATTTGTCTAGCAATACCCTACAATTACCTTTTCAAGCTGTGCAATTTATAAAGAAA
AAAATACATTTTATCATCCAAGGAAATGTTATCAGTAAAAAGAATAGCTCTATCTCCAAATTAAATATTGATATCTTTATTACCCATCTTAAAGAAATTTTTTAAAATCCTGAGACTCAGAAAATTAA
GTCATTTAAGGTTTCACACCTTGTTACTGTTAACCTAGACCATGTTACAAAGTAGTTGATTTCTAGTCTAATTTAACTTTTGCTATTATATCTCCCCCACCAAAAACCAGAGAGGCATGCTGCTTTCA
TTAGTGATCCACAGATATTCTTCCCCACCAGCTTCCCTGGATCCCACTCATCCCCAAATACTCTGATCTCACAGGTTAGAGATCTGTCACTGGGTGCAAAAGAACAAGAAAAGGCACTGTAAGGTAAA
CATTGATGATTTCTTGAAACTACCAGTAAGTAGCTTATATTTTCTGACTTTCTTTGTCTTACTGTTGTGAAATCAACTGATCTAGTTTTAAATGTAATGAAAAGCAAAGCAATAGATTCTCCCCTAGA
GCCTGCAGATGGAATGCAGCCTTGTTAACATCTTGATTTAAGCTTCACAGACTTCTGATTTCCAAAACTGTAAGATAATAAGCTTCTGTTGTTTTAAGCCACAAAATTAGTAATAATTTGTTATAGCA
GCAATAGGAAACAAGTACAAAATCTTTATTAGTTAATACTATGAATAGTTATTCATACCAGCTAAGAGATATTTGGAATTTATTATGGATCACTTTATTATGGTCACTGTAGTAATTCACCTGTTGCT
CATAAAAACCTTATAAACATTTAGTATTGTTTTATGGCAATTGTTATTTTAAACAATATTATCAATGTATGTTAGTGTTATCATTATTAAAGTTATTATTGTTAAAGCATTGAAATTAAATAAATTAA
GGTCAGTACCACAGAAGGCCTTTTGAATTTAGAACCCACATTAATAACCATCTTGTGGTACTTTCTTATCTTGCTTAGTGATACGGTTTGGCTGTGTCCACTCAAATCTCATCTTGAATTATGGCTCC
CATAATGCCCACGTGTTGTGGGAGGGACCAGGTGGGAGGTAATCAAATCATGGGGGTGGGTTTTCATGTGCTTTTTTCATGATAGTGAATAAGTCGCCTGAGATCTGATGGCTTCATAAAGGGCAATT
CCCCTGCACATGCTCTCTTGCCTGACACCATGTAAGATGTGCCTTTGTTCCTCTTTCATCTTCTGCTGTGGTTGTGAGGCCTCCCCACCCATGTGAAACTACAAGTCCATTACATCTCTTTTCCTTTA
TAAATTACCCAGTCTTGAGTATTTCTTCATAGCAGTATGAAAATGGACTAATATACTTAGGAAAACATAGAAATACTGAATAATGTGTTAAAATTTAGAAGGAATTACTAAAATAATTGAAATCAAAA
GCATAGATTCAAAACAATGTATAAGAATTCAGCACAAAATAAGCAGGTAAAGAAATTTCTAAAATGAAGTAGAGAAAATGTGGTAATGACTCTAGTGTATAACGATCACCAACAGAATAGAAAGTCCA
AAAAATAGACTTTATAGGAATAATACAGGGTAAAGATAGACTTCTTAGTAGGTTGGGACTACTGGATGGCCATATAGGAAAAGATCAAGTTGTAACCAGACCTCACACACAATACACTAAAATAAGAA
AAAGGAACCACACCCAAATTGATAAAATATAAAATGTAAAACTATGAAAATGCATTTGAAGAAATCAAGGTTATGTTCTTCATAAACCTGTAGAGGAGAGGGCCTTTCTAAATGTGACTCAAAACTCT
TGAAATCTCTCTTGACCCCATGTCTCAGTCAGTTTCAACACAATCTTTGTTCCCTTTCAAAGCAATATTTTAGTTAGTTACATCCCATTCTCTGTTTTTCAAAATTATTAAATGTGACACATACTGAA
GAGTACAAAAAACATAAAATGTACAATATTCAATATAAATAAATTACAAGATGAACGCACAAGTAACAACCCAGGTACATACATTCAGCATTACTAAAATTCTATAGGTGTATATGACAACTTCTGAC
AACCCTGCTAGAGCCAACTAATATCACAACTTTCACAACTATTTTCTAGGATTTTATTATAAACATGTGAGCTCCTAAGTAATGTAATTTTGTTTGGCCTGTTTTCAAACTTTATTTAAATGGAATTA
CATTGTTTGTATTCTTTTATGCCTTGCTTCATTTGTTAATAAAATCTTTATAAGATTCATCTA

hide sequence

RefSeq Acc Id:

NM_052942 ⟹ NP_443174

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,256,189 - 89,272,860 (-)	NCBI
GRCh37	1	89,724,633 - 89,738,544 (-)	RGD
Build 36	1	89,498,853 - 89,511,119 (-)	NCBI Archive
Celera	1	87,970,432 - 87,984,342 (-)	RGD
HuRef	1	87,841,845 - 87,855,755 (-)	ENTREZGENE
CHM1_1	1	89,839,681 - 89,853,590 (-)	NCBI
T2T-CHM13v2.0	1	89,099,549 - 89,116,218 (-)	NCBI

Sequence:

show sequence

ACTGAGGTCACCCTCCAGGCTGTGGAACCTTTGTTCTTTCACTCTTTGCAATAAATCTTGCTGC
TGCTCACTCTTTGGGTCCACACTGCCTTTATGAGCTGTAACACTCACTGGGAATGTCTGCAGCTTCACTCCTGAAGCCAGCGAGACCACGAACCCACCAGGAGGAACAAACAACTCCAGACGCGCAGC
CTTAAGAGCTGTAACACTCACCGCGAAGGTCTGCAGCTTCACTCCTGAGCCAGCCAGACCACGAACCCACCAGAAGGAAGAAACTCCAAACACATCCGAACATCAGAAGGAGCAAACTCCTGACACGC
CACCTTTAAGAACCGTGACACTCAACGCTAGGGTCCGCGGCTTCATTCTTGAAGTCAGTGAGACCAAGAACCCACCAATTCCGGACACGCTAATTGTTGTAGATCATCACTTCAAGGTGCCCATATCT
TTCTAGTGGAAAAATTATTCTGGCCTCCGCTGCATACAAATCAGGCAACCAGAATTCTACATATATAAGGCAAAGTAACATCCTAGACATGGCTTTAGAGATCCACATGTCAGACCCCATGTGCCTCA
TCGAGAACTTTAATGAGCAGCTGAAGGTTAATCAGGAAGCTTTGGAGATCCTGTCTGCCATTACGCAACCTGTAGTTGTGGTAGCGATTGTGGGCCTCTATCGCACTGGCAAATCCTACCTGATGAAC
AAGCTGGCTGGGAAGAACAAGGGCTTCTCTGTTGCATCTACGGTGCAGTCTCACACCAAGGGAATTTGGATATGGTGTGTGCCTCATCCCAACTGGCCAAATCACACATTAGTTCTGCTTGACACCGA
GGGCCTGGGAGATGTAGAGAAGGCTGACAACAAGAATGATATCCAGATCTTTGCACTGGCACTCTTACTGAGCAGCACCTTTGTGTACAATACTGTGAACAAAATTGATCAGGGTGCTATCGACCTAC
TGCACAATGTGACAGAACTGACAGATCTGCTCAAGGCAAGAAACTCACCCGACCTTGACAGGGTTGAAGATCCTGCTGACTCTGCGAGCTTCTTCCCAGACTTAGTGTGGACTCTGAGAGATTTCTGC
TTAGGCCTGGAAATAGATGGGCAACTTGTCACACCAGATGAATACCTGGAGAATTCCCTAAGGCCAAAGCAAGGTAGTGATCAAAGAGTTCAAAATTTCAATTTGCCCCGTCTGTGTATACAGAAGTT
CTTTCCAAAAAAGAAATGCTTTATCTTTGACTTACCTGCTCACCAAAAAAAGCTTGCCCAACTTGAAACACTGCCTGATGATGAGCTAGAGCCTGAATTTGTGCAACAAGTGACAGAATTCTGTTCCT
ACATCTTTAGCCATTCTATGACCAAGACTCTTCCAGGTGGCATCATGGTCAATGGATCTCGTCTAAAGAACCTGGTGCTGACCTATGTCAATGCCATCAGCAGTGGGGATCTGCCTTGCATAGAGAAT
GCAGTCCTGGCCTTGGCTCAGAGAGAGAACTCAGCTGCAGTGCAAAAGGCCATTGCCCACTATGACCAGCAAATGGGCCAGAAAGTGCAGCTGCCCATGGAAACCCTCCAGGAGCTGCTGGACCTGCA
CAGGACCAGTGAGAGGGAGGCCATTGAAGTCTTCATGAAAAACTCTTTCAAGGATGTAGACCAAAGTTTCCAGAAAGAATTGGAGACTCTACTAGATGCAAAACAGAATGACATTTGTAAACGGAACC
TGGAAGCATCCTCGGATTATTGCTCGGCTTTACTTAAGGATATTTTTGGTCCTCTAGAAGAAGCAGTGAAGCAGGGAATTTATTCTAAGCCAGGAGGCCATAATCTCTTCATTCAGAAAACAGAAGAA
CTGAAGGCAAAGTACTATCGGGAGCCTCGGAAAGGAATACAGGCTGAAGAAGTTCTGCAGAAATATTTAAAGTCCAAGGAGTCTGTGAGTCATGCAATATTACAGACTGACCAGGCTCTCACAGAGAC
GGAAAAAAAGAAGAAAGAGGCACAAGTGAAAGCAGAAGCTGAAAAGGCTGAAGCGCAAAGGTTGGCGGCGATTCAAAGGCAGAACGAGCAAATGATGCAGGAGAGGGAGAGACTCCATCAGGAACAAG
TGAGACAAATGGAGATAGCCAAACAAAATTGGCTGGCAGAGCAACAGAAAATGCAGGAACAACAGATGCAGGAACAGGCTGCACAGCTCAGCACAACATTCCAAGCTCAAAATAGAAGCCTTCTCAGT
GAGCTCCAGCACGCCCAGAGGACTGTTAATAACGATGATCCATGTGTTTTACTCTAAAGTGCTAAATATGGGAGTTTCCTTTTTTTACTCTTTGTCACTGATGACACAACAGAAAAGAAACTGTAGAC
CTTGGGACAATCAACATTTAAATAAACTTTATAATTATTTTTTCAAACTTTCATATAGAGTTATAAGATTATGATGCTGGTATCTGGTAAAATGTACATCCCAGTAGTCCAATAGTTTAAATGTTTAT
TGCTTCCTTTAAGAGATTATAAATTGTATAAGGGACATTGTATCACTGCCTTCATTTATGCGTGATATTGGGATGGTTTCATCAGGAGATGCTTTCCTTGCATCTCAATGTCATCTGTCTAATTTCTC
ATAAGGGGATTATGTTACCTAGAGCAGGGCTTCCCAACCCTCAGGCCATAGACTAGCTCTGATCTGTGGCCTCTTAGGAACCCGGCCACACAGCAGGAGGTGAGCAGCAGGTAAGTGAGCATTACAGC
CTGAGCTCCACCTCCTGTCAGATCAGCAGTGACATTAGATTCTCACAGGAGTGGGAACCCTATTGTGAACTGTGCATGCAAAAGATCTAGGTTGTGTGATCCTTGTGGAACAATATAAACCAGAAACC
AATAACGCCACCCCACCTCCAACCCCCGCCAACCCTCTGTGGAAAAATTACCTTCCACGAAACTGGTCCCTGATGCCAAATAGGTTGGGGGACCGCTGACCTAGAGGGAGTTATGCACATGGGCTTAT
AAGGTTAGCCAAGAGAAAGGACAAGAAGACCCAAAGTCGGCAAGCAAATTTATTAACCTGCTGGGCTGCTCTACAGAAATCTGAGGAGGCAGACACCGGGCTTACAGGCTAAGGGGTATAAGTAGGTC
TGCAGGGGTTTTGTGTGTGTGTGCGGGGGTGTCGGGGGGGCAAGGCCATTTGTGGAGACTTTTCCTCCCAGTATGGCCACATCCTGCAGTTTGTCAGTTTTTGCCCCCGCCTGGCTCAGGGTACCAGG
ATGTGGTTTAGCTTAGGGGTGGTTATAGTGGCACCTAAGTTCTGGGAACTTGCGGTGGGGGCGACCTTTTGGACGAAAAATAAGCTGCAGGGCAGCTAGGGGAGGGGGCTTGTTATATTCCTCTGGGG
GCAGGGTGTCCCTAACTGGGCTCAGTCGGAAGGAACTTGACCAAAGTCTGGGCTCAGTTGGGCATCACTCAGGCTAATGGTCGTGTGCTGGATGCCATCAGAGGGAAGTACCAATGGTAAAGTGGAAA
CAATGTGCAGCTTTCAACTGGGTGGAGGCTGCTATTCTGTGGACAGTGAGATGTTTCCTTGGCACTGTCAATAGACAATCTGCGTAGAGAAATTCCAAGCTGAAAGCCAATAATGTTATAATAAAATA
GAGATTCTTCAGAAGATGAAAGGAATTACCAGCATGGAAATTGTGTCATAGGCTTAAGGGCTAAAGAAGAAGCCTTTTCTTTTCTGTTCACCCTCACCAAGAGCACAACTTAAATAGGGCATTTTATA
ACCTGAACACAATTTATATTGGACTTAATTATTATGTGTAATATGTTTATAATCCTTTAGATCTTATAAATATGTGGTATAAGGAATGCCATATAATGTGCCAAAAATCTGAGTGCATTTAATTTAAT
GCTTGCTTATAGTGCTAAAGTTAAATGATCTTAATTCTTTGCAATTATATATGAAAAATGACTGATTTTTCTTAAAATATGTAACTTATATAAATATATCTGTTTGTACAGATTTTAACCATAAAAAC
ATTTTTGGAAAACCATAAATCAGTTCCTTTGTTTGTATTTTTCTCAAAGTTAAAAGTCTATAGAGAAAGACTGAATTTCCCTAAGGAGATTAAGAATTGCTTTAAGACTAGAATTAAAACACACTTTA
TTACATCTTTTTATGTACTTTTTGTTACTTTGTTTTGTATATCTCCAGTAAAATTTTTTTTGTTTAAATTATAGAAACATTACACAAAGCTCTGTTTTTCTCCCTTATAAGTACTTACTCATATAAGG
AATTTTCCACTTAGGTAATATGATAGGAGCTTGAATTTTTTTAGTCACCCAAAATATGATTTACTTATATACAGAAAAAAGCCGAAAAATTTTAGTGTCTGCTCTTTTTACTGTTCTTTGAAGAGCTT
TAATATGAGGAATTTTTCATATCAGATAGGATGTGGTGCTACTCAGCAGTATTTCTAGATTTGAACTGAAGTTCAGAAGGTACCAGCATATTCAACTGAGCATTTGTCTAGCAATACCCTACAATTAC
CTTTTCAAGCTGTGCAATTTATAAAGAAAAAAATACATTTTATCATCCAAGGAAATGTTATCAGTAAAAAGAATAGCTCTATCTCCAAATTAAATATTGATATCTTTATTACCCATCTTAAAGAAATT
TTTTAAAATCCTGAGACTCAGAAAATTAAGTCATTTAAGGTTTCACACCTTGTTACTGTTAACCTAGACCATGTTACAAAGTAGTTGATTTCTAGTCTAATTTAACTTTTGCTATTATATCTCCCCCA
CCAAAAACCAGAGAGGCATGCTGCTTTCATTAGTGATCCACAGATATTCTTCCCCACCAGCTTCCCTGGATCCCACTCATCCCCAAATACTCTGATCTCACAGGTTAGAGATCTGTCACTGGGTGCAA
AAGAACAAGAAAAGGCACTGTAAGGTAAACATTGATGATTTCTTGAAACTACCAGTAAGTAGCTTATATTTTCTGACTTTCTTTGTCTTACTGTTGTGAAATCAACTGATCTAGTTTTAAATGTAATG
AAAAGCAAAGCAATAGATTCTCCCCTAGAGCCTGCAGATGGAATGCAGCCTTGTTAACATCTTGATTTAAGCTTCACAGACTTCTGATTTCCAAAACTGTAAGATAATAAGCTTCTGTTGTTTTAAGC
CACAAAATTAGTAATAATTTGTTATAGCAGCAATAGGAAACAAGTACAAAATCTTTATTAGTTAATACTATGAATAGTTATTCATACCAGCTAAGAGATATTTGGAATTTATTATGGATCACTTTATT
ATGGTCACTGTAGTAATTCACCTGTTGCTCATAAAAACCTTATAAACATTTAGTATTGTTTTATGGCAATTGTTATTTTAAACAATATTATCAATGTATGTTAGTGTTATCATTATTAAAGTTATTAT
TGTTAAAGCATTGAAATTAAATAAATTAAGGTCAGTACCACAGAAGGCCTTTTGAATTTAGAACCCACATTAATAACCATCTTGTGGTACTTTCTTATCTTGCTTAGTGATACGGTTTGGCTGTGTCC
ACTCAAATCTCATCTTGAATTATGGCTCCCATAATGCCCACGTGTTGTGGGAGGGACCAGGTGGGAGGTAATCAAATCATGGGGGTGGGTTTTCATGTGCTTTTTTCATGATAGTGAATAAGTCGCCT
GAGATCTGATGGCTTCATAAAGGGCAATTCCCCTGCACATGCTCTCTTGCCTGACACCATGTAAGATGTGCCTTTGTTCCTCTTTCATCTTCTGCTGTGGTTGTGAGGCCTCCCCACCCATGTGAAAC
TACAAGTCCATTACATCTCTTTTCCTTTATAAATTACCCAGTCTTGAGTATTTCTTCATAGCAGTATGAAAATGGACTAATATACTTAGGAAAACATAGAAATACTGAATAATGTGTTAAAATTTAGA
AGGAATTACTAAAATAATTGAAATCAAAAGCATAGATTCAAAACAATGTATAAGAATTCAGCACAAAATAAGCAGGTAAAGAAATTTCTAAAATGAAGTAGAGAAAATGTGGTAATGACTCTAGTGTA
TAACGATCACCAACAGAATAGAAAGTCCAAAAAATAGACTTTATAGGAATAATACAGGGTAAAGATAGACTTCTTAGTAGGTTGGGACTACTGGATGGCCATATAGGAAAAGATCAAGTTGTAACCAG
ACCTCACACACAATACACTAAAATAAGAAAAAGGAACCACACCCAAATTGATAAAATATAAAATGTAAAACTATGAAAATGCATTTGAAGAAATCAAGGTTATGTTCTTCATAAACCTGTAGAGGAGA
GGGCCTTTCTAAATGTGACTCAAAACTCTTGAAATCTCTCTTGACCCCATGTCTCAGTCAGTTTCAACACAATCTTTGTTCCCTTTCAAAGCAATATTTTAGTTAGTTACATCCCATTCTCTGTTTTT
CAAAATTATTAAATGTGACACATACTGAAGAGTACAAAAAACATAAAATGTACAATATTCAATATAAATAAATTACAAGATGAACGCACAAGTAACAACCCAGGTACATACATTCAGCATTACTAAAA
TTCTATAGGTGTATATGACAACTTCTGACAACCCTGCTAGAGCCAACTAATATCACAACTTTCACAACTATTTTCTAGGATTTTATTATAAACATGTGAGCTCCTAAGTAATGTAATTTTGTTTGGCC
TGTTTTCAAACTTTATTTAAATGGAATTACATTGTTTGTATTCTTTTATGCCTTGCTTCATTTGTTAATAAAATCTTTATAAGATTCATCTA

hide sequence


Protein RefSeqs	NP_001127958	(Get FASTA)	NCBI Sequence Viewer
	NP_001378849	(Get FASTA)	NCBI Sequence Viewer
	NP_443174	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH31639	(Get FASTA)	NCBI Sequence Viewer
	AAH33761	(Get FASTA)	NCBI Sequence Viewer
	AAL02055	(Get FASTA)	NCBI Sequence Viewer
	AAN39035	(Get FASTA)	NCBI Sequence Viewer
	AAN39036	(Get FASTA)	NCBI Sequence Viewer
	AAO40731	(Get FASTA)	NCBI Sequence Viewer
	AAQ89312	(Get FASTA)	NCBI Sequence Viewer
	BAC03460	(Get FASTA)	NCBI Sequence Viewer
	BAG37538	(Get FASTA)	NCBI Sequence Viewer
	EAW73141	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000359488
	ENSP00000359488.3
	ENSP00000403010
GenBank Protein	Q96PP8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_443174 ⟸ NM_052942
- Peptide Label:	isoform 1
- UniProtKB:	B2RCE1 (UniProtKB/Swiss-Prot), Q86TM5 (UniProtKB/Swiss-Prot), Q96PP8 (UniProtKB/Swiss-Prot), E7ETN8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MALEIHMSDPMCLIENFNEQLKVNQEALEILSAITQPVVVVAIVGLYRTGKSYLMNKLAGKNKGFSVASTVQSHTKGIWIWCVPHPNWPNHTLVLLDTEGLGDVEKADNKNDIQIFALALLLSSTFVY NTVNKIDQGAIDLLHNVTELTDLLKARNSPDLDRVEDPADSASFFPDLVWTLRDFCLGLEIDGQLVTPDEYLENSLRPKQGSDQRVQNFNLPRLCIQKFFPKKKCFIFDLPAHQKKLAQLETLPDDEL EPEFVQQVTEFCSYIFSHSMTKTLPGGIMVNGSRLKNLVLTYVNAISSGDLPCIENAVLALAQRENSAAVQKAIAHYDQQMGQKVQLPMETLQELLDLHRTSEREAIEVFMKNSFKDVDQSFQKELET LLDAKQNDICKRNLEASSDYCSALLKDIFGPLEEAVKQGIYSKPGGHNLFIQKTEELKAKYYREPRKGIQAEEVLQKYLKSKESVSHAILQTDQALTETEKKKKEAQVKAEAEKAEAQRLAAIQRQNE QMMQERERLHQEQVRQMEIAKQNWLAEQQKMQEQQMQEQAAQLSTTFQAQNRSLLSELQHAQRTVNNDDPCVLL hide sequence

RefSeq Acc Id:	NP_001127958 ⟸ NM_001134486
- Peptide Label:	isoform 1
- UniProtKB:	B2RCE1 (UniProtKB/Swiss-Prot), Q86TM5 (UniProtKB/Swiss-Prot), Q96PP8 (UniProtKB/Swiss-Prot), E7ETN8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MALEIHMSDPMCLIENFNEQLKVNQEALEILSAITQPVVVVAIVGLYRTGKSYLMNKLAGKNKGFSVASTVQSHTKGIWIWCVPHPNWPNHTLVLLDTEGLGDVEKADNKNDIQIFALALLLSSTFVY NTVNKIDQGAIDLLHNVTELTDLLKARNSPDLDRVEDPADSASFFPDLVWTLRDFCLGLEIDGQLVTPDEYLENSLRPKQGSDQRVQNFNLPRLCIQKFFPKKKCFIFDLPAHQKKLAQLETLPDDEL EPEFVQQVTEFCSYIFSHSMTKTLPGGIMVNGSRLKNLVLTYVNAISSGDLPCIENAVLALAQRENSAAVQKAIAHYDQQMGQKVQLPMETLQELLDLHRTSEREAIEVFMKNSFKDVDQSFQKELET LLDAKQNDICKRNLEASSDYCSALLKDIFGPLEEAVKQGIYSKPGGHNLFIQKTEELKAKYYREPRKGIQAEEVLQKYLKSKESVSHAILQTDQALTETEKKKKEAQVKAEAEKAEAQRLAAIQRQNE QMMQERERLHQEQVRQMEIAKQNWLAEQQKMQEQQMQEQAAQLSTTFQAQNRSLLSELQHAQRTVNNDDPCVLL hide sequence

Ensembl Acc Id:

ENSP00000359488 ⟸ ENST00000370459

Ensembl Acc Id:

ENSP00000403010 ⟸ ENST00000443807

RefSeq Acc Id:	NP_001378849 ⟸ NM_001391920
- Peptide Label:	isoform 2
- UniProtKB:	E7ETN8 (UniProtKB/TrEMBL)

Protein Domains

GB1/RHD3-type G

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96PP8-F1-model_v2	AlphaFold	Q96PP8	1-586	view protein structure

RGD ID:

6785635

Promoter ID:

HG_KWN:3560

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell

Transcripts:

OTTHUMT00000027999

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	89,501,021 - 89,501,521 (-)	MPROMDB

RGD ID:

6785295

Promoter ID:

HG_KWN:3563

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000370459, NM_001134486, NM_052942, UC001DNE.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	89,510,736 - 89,511,236 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	GBP5	COSMIC
Ensembl Genes	ENSG00000154451	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000370459	ENTREZGENE
	ENST00000370459.8	UniProtKB/Swiss-Prot
	ENST00000443807	ENTREZGENE
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot
	Guanylate-binding protein, C-terminal domain	UniProtKB/Swiss-Prot
GTEx	ENSG00000154451	GTEx
HGNC ID	HGNC:19895	ENTREZGENE
Human Proteome Map	GBP5	Human Proteome Map
InterPro	G_GB1_RHD3_dom	UniProtKB/Swiss-Prot
	GBP_C	UniProtKB/Swiss-Prot
	Guanylate-bd/ATL_C	UniProtKB/Swiss-Prot
	Guanylate-bd_C_sf	UniProtKB/Swiss-Prot
	Guanylate-bd_N	UniProtKB/Swiss-Prot
	P-loop_NTPase	UniProtKB/Swiss-Prot
KEGG Report	hsa:115362	UniProtKB/Swiss-Prot
NCBI Gene	115362	ENTREZGENE
OMIM	611467	OMIM
PANTHER	GUANYLATE BINDING PROTEIN	UniProtKB/Swiss-Prot
Pfam	GBP	UniProtKB/Swiss-Prot
	GBP_C	UniProtKB/Swiss-Prot
PharmGKB	PA134862968	PharmGKB
PROSITE	G_GB1_RHD3	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48340	UniProtKB/Swiss-Prot
	SSF52540	UniProtKB/Swiss-Prot
UniProt	B2RCE1	ENTREZGENE
	E7ETN8	ENTREZGENE, UniProtKB/TrEMBL
	GBP5_HUMAN	UniProtKB/Swiss-Prot
	Q86TM5	ENTREZGENE
	Q96PP8	ENTREZGENE
UniProt Secondary	B2RCE1	UniProtKB/Swiss-Prot
	Q86TM5	UniProtKB/Swiss-Prot

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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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD