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Gene: SMAP1 (small ArfGAP 1) Homo sapiens

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Symbol:

SMAP1

Name:

small ArfGAP 1

RGD ID:

1347252

HGNC Page

HGNC:19651

Description:

Predicted to enable GTPase activator activity. Predicted to be involved in regulation of clathrin-dependent endocytosis. Predicted to act upstream of or within positive regulation of erythrocyte differentiation. Predicted to be located in plasma membrane. Predicted to be active in cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ13159; FLJ42245; SMAP-1; stromal membrane-associated GTPase-activating protein 1; stromal membrane-associated protein 1

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):	Smap1 (small ArfGAP 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Smap1 (small ArfGAP 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Smap1 (small ArfGAP 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SMAP1 (small ArfGAP 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	SMAP1 (small ArfGAP 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Smap1 (small ArfGAP 1)	NCBI	Ortholog
Sus scrofa (pig):	SMAP1 (small ArfGAP 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	SMAP1 (small ArfGAP 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Smap1 (small ArfGAP 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Smap1 (small ArfGAP 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Smap1 (small ArfGAP 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	smap1 (small ArfGAP 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	AGE2	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG8243	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	W09D10.1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	GTS1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	smap1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	smap1.L	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	6	70,667,883 - 70,862,015 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	70,667,776 - 70,862,011 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	71,377,586 - 71,571,718 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	71,434,200 - 71,628,439 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	71,434,322 - 71,628,435	NCBI
Celera	6	71,765,844 - 71,960,082 (+)	NCBI		Celera
Cytogenetic Map	6	q13	NCBI
HuRef	6	68,575,653 - 68,769,927 (+)	NCBI		HuRef
CHM1_1	6	71,543,807 - 71,738,003 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	71,848,459 - 72,042,553 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

6-propyl-2-thiouracil (ISO)

adefovir pivoxil (EXP)

aflatoxin B1 (EXP)

amitrole (ISO)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

cadmium dichloride (EXP)

carbamazepine (EXP)

CGP 52608 (EXP)

chloroacetaldehyde (EXP)

chlorpyrifos (ISO)

cidofovir anhydrous (EXP)

cisplatin (EXP)

clodronic acid (EXP)

cobalt dichloride (EXP)

cyclosporin A (EXP)

Dibutyl phosphate (EXP)

dieldrin (EXP)

dioxygen (EXP,ISO)

doxorubicin (EXP)

enzyme inhibitor (EXP)

ethanol (EXP,ISO)

folic acid (ISO)

gentamycin (ISO)

isoprenaline (ISO)

ivermectin (EXP)

methyl methanesulfonate (EXP)

paracetamol (ISO)

pirinixic acid (ISO)

quercetin (EXP)

sodium arsenite (EXP,ISO)

sulfadimethoxine (ISO)

sunitinib (EXP)

thioacetamide (ISO)

thiram (EXP)

triphenyl phosphate (EXP)

tungsten (ISO)

tunicamycin (EXP)

uranium atom (EXP)

valproic acid (EXP)

vinclozolin (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

actin cytoskeleton organization (ISO)

positive regulation of erythrocyte differentiation (IEA,ISO)

regulation of clathrin-dependent endocytosis (IBA,IEA,ISO)

Cellular Component

cytoplasm (IBA,IEA)

plasma membrane (IEA)

Molecular Function

clathrin binding (IEA)

GTPase activator activity (IBA,IEA)

metal ion binding (IEA)

protein binding (IPI)

zinc ion binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

endocytosis pathway (IEA)

References

References - curated

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

Additional References at PubMed

PMID:8125298	PMID:9644265	PMID:12119110	PMID:12477932	PMID:14574404	PMID:14702039	PMID:15489334	PMID:15659652	PMID:15761153	PMID:16273301	PMID:16344560	PMID:17353931
PMID:19460752	PMID:21832049	PMID:21873635	PMID:23752192	PMID:25281535	PMID:26186194	PMID:26673895	PMID:28011674	PMID:28514442	PMID:28515276	PMID:29395067	PMID:31048545
PMID:31091453	PMID:31452512	PMID:32296183	PMID:32687490	PMID:33277362	PMID:33961781	PMID:34079125	PMID:34315543	PMID:34369648	PMID:34597346	PMID:34795231	PMID:35253629
PMID:35256949	PMID:35384245	PMID:35831314	PMID:35844135	PMID:36215168	PMID:36494580	PMID:37232246	PMID:37827155	PMID:37848033	PMID:38943005	PMID:39098523	PMID:39238192

Genomics

Comparative Map Data

SMAP1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	70,667,883 - 70,862,015 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	70,667,776 - 70,862,011 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	71,377,586 - 71,571,718 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	71,434,200 - 71,628,439 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	71,434,322 - 71,628,435	NCBI
Celera	6	71,765,844 - 71,960,082 (+)	NCBI		Celera
Cytogenetic Map	6	q13	NCBI
HuRef	6	68,575,653 - 68,769,927 (+)	NCBI		HuRef
CHM1_1	6	71,543,807 - 71,738,003 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	71,848,459 - 72,042,553 (+)	NCBI		T2T-CHM13v2.0

Smap1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	23,883,925 - 23,961,462 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	23,883,927 - 23,961,398 (-)	Ensembl		GRCm39 Ensembl
GRCm38	1	23,844,825 - 23,922,381 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	23,844,846 - 23,922,317 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	23,852,466 - 23,929,128 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	23,799,902 - 23,876,564 (-)	NCBI		MGSCv36	mm8
Celera	1	23,682,793 - 23,728,564 (-)	NCBI		Celera
Cytogenetic Map	1	A5	NCBI
cM Map	1	9.79	NCBI

Smap1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	9	33,746,489 - 33,838,488 (-)	NCBI		GRCr8
mRatBN7.2	9	26,250,178 - 26,342,151 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	26,249,978 - 26,342,170 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	9	30,068,888 - 30,161,753 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	30,068,659 - 30,161,578 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	9	28,899,307 - 28,991,336 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	9	23,790,428 - 23,877,371 (-)	NCBI		Celera
Cytogenetic Map	9	q13	NCBI

Smap1
(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_004955488	5,758,680 - 5,866,883 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955488	5,758,682 - 5,866,883 (+)	NCBI	ChiLan1.0	ChiLan1.0

SMAP1
(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	5	90,654,943 - 90,848,460 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	88,580,159 - 88,773,739 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	68,502,228 - 68,696,466 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	71,798,454 - 71,992,061 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	71,795,522 - 71,990,392 (+)	Ensembl	panpan1.1		panPan2

SMAP1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	33,142,475 - 33,321,216 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	33,142,621 - 33,320,666 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	33,001,765 - 33,179,254 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	33,682,402 - 33,861,312 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	33,682,193 - 33,862,130 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	33,213,063 - 33,389,982 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	33,254,677 - 33,432,688 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	33,367,392 - 33,544,817 (+)	NCBI		UU_Cfam_GSD_1.0

Smap1
(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_024404946	68,366,294 - 68,545,627 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936618	2,523,397 - 2,704,205 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936618	2,523,572 - 2,703,803 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SMAP1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	50,781,689 - 50,942,991 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	50,721,573 - 50,942,193 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	57,176,594 - 57,280,051 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SMAP1
(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	17	4,149,801 - 4,333,713 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	4,148,285 - 4,333,642 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666058	10,150,812 - 10,337,902 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Smap1
(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_004624819	9,097,784 - 9,269,321 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624819	9,099,000 - 9,269,322 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SMAP1
32 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6q13(chr6:70809191-71941709)x3	copy number gain	See cases [RCV000135579]	Chr6:70809191..71941709 [GRCh38] Chr6:71518894..72651412 [GRCh37] Chr6:71575615..72708133 [NCBI36] Chr6:6q13	uncertain significance
GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4	copy number gain	See cases [RCV000138053]	Chr6:68735649..70794393 [GRCh38] Chr6:69445541..71504096 [GRCh37] Chr6:69502262..71560817 [NCBI36] Chr6:6q12-13	pathogenic
GRCh38/hg38 6q13(chr6:70252200-70891985)x3	copy number gain	See cases [RCV000139782]	Chr6:70252200..70891985 [GRCh38] Chr6:70961903..71601688 [GRCh37] Chr6:71018624..71658409 [NCBI36] Chr6:6q13	likely benign
GRCh38/hg38 6q13(chr6:70252257-70855775)x3	copy number gain	See cases [RCV000141887]	Chr6:70252257..70855775 [GRCh38] Chr6:70961960..71565478 [GRCh37] Chr6:71018681..71622199 [NCBI36] Chr6:6q13	uncertain significance
GRCh38/hg38 6q13(chr6:70794142-71972780)x3	copy number gain	See cases [RCV000142320]	Chr6:70794142..71972780 [GRCh38] Chr6:71503845..72682483 [GRCh37] Chr6:71560566..72739204 [NCBI36] Chr6:6q13	uncertain significance
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	copy number loss	See cases [RCV000142527]	Chr6:64549655..83426791 [GRCh38] Chr6:65259548..84136510 [GRCh37] Chr6:65316269..84193229 [NCBI36] Chr6:6q12-14.2	pathogenic
GRCh38/hg38 6q13(chr6:70026943-70923391)x3	copy number gain	See cases [RCV000143243]	Chr6:70026943..70923391 [GRCh38] Chr6:70736835..71633094 [GRCh37] Chr6:70793556..71689815 [NCBI36] Chr6:6q13	uncertain significance
GRCh37/hg19 6q13(chr6:71425270-71517842)x1	copy number loss	See cases [RCV000446982]	Chr6:71425270..71517842 [GRCh37] Chr6:6q13	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q13(chr6:70716539-71620525)x3	copy number gain	See cases [RCV000511284]	Chr6:70716539..71620525 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.1316C>T (p.Thr439Ile)	single nucleotide variant	not specified [RCV004293769]	Chr6:70860246 [GRCh38] Chr6:71569949 [GRCh37] Chr6:6q13	uncertain significance
GRCh37/hg19 6q13(chr6:71571478-72048250)x3	copy number gain	not provided [RCV000682680]	Chr6:71571478..72048250 [GRCh37] Chr6:6q13	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_001044305.3(SMAP1):c.635C>T (p.Ala212Val)	single nucleotide variant	not provided [RCV001725468]	Chr6:70836999 [GRCh38] Chr6:71546702 [GRCh37] Chr6:6q13	benign
NM_001044305.3(SMAP1):c.1030T>C (p.Ser344Pro)	single nucleotide variant	not specified [RCV004304014]	Chr6:70857990 [GRCh38] Chr6:71567693 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.1171G>C (p.Val391Leu)	single nucleotide variant	not specified [RCV004291415]	Chr6:70858131 [GRCh38] Chr6:71567834 [GRCh37] Chr6:6q13	uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1	copy number loss	not provided [RCV000847757]	Chr6:69481460..73185349 [GRCh37] Chr6:6q12-13	pathogenic
GRCh37/hg19 6q13(chr6:70320224-71568417)x3	copy number gain	not provided [RCV002472782]	Chr6:70320224..71568417 [GRCh37] Chr6:6q13	uncertain significance
GRCh37/hg19 6q13(chr6:71351541-72837211)x1	copy number loss	not provided [RCV001259383]	Chr6:71351541..72837211 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.80A>C (p.Glu27Ala)	single nucleotide variant	not specified [RCV004683977]	Chr6:70668103 [GRCh38] Chr6:71377806 [GRCh37] Chr6:6q13	uncertain significance
GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	copy number loss	not provided [RCV001834215]	Chr6:70165296..79920769 [GRCh37] Chr6:6q13-14.1	pathogenic
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	copy number gain	not specified [RCV002053581]	Chr6:69938252..94379210 [GRCh37] Chr6:6q12-16.1	pathogenic
GRCh37/hg19 6q13(chr6:71425270-71517842)	copy number loss	not specified [RCV002053583]	Chr6:71425270..71517842 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.599T>C (p.Leu200Pro)	single nucleotide variant	not specified [RCV004683975]	Chr6:70836963 [GRCh38] Chr6:71546666 [GRCh37] Chr6:6q13	uncertain significance
GRCh37/hg19 6q13(chr6:71105038-75200617)x1	copy number loss	Autism [RCV002292213]	Chr6:71105038..75200617 [GRCh37] Chr6:6q13	pathogenic
GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	copy number loss	Chromosome 6q11-q14 deletion syndrome [RCV002280752]	Chr6:64954687..79581678 [GRCh37] Chr6:6q12-14.1	pathogenic
NM_080742.3(B3GAT2):c.943C>T (p.His315Tyr)	single nucleotide variant	not specified [RCV004162481]	Chr6:70861692 [GRCh38] Chr6:71571395 [GRCh37] Chr6:6q13	uncertain significance
NM_080742.3(B3GAT2):c.939G>C (p.Lys313Asn)	single nucleotide variant	not specified [RCV004147840]	Chr6:70861696 [GRCh38] Chr6:71571399 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.1270A>G (p.Met424Val)	single nucleotide variant	not specified [RCV004210777]	Chr6:70860200 [GRCh38] Chr6:71569903 [GRCh37] Chr6:6q13	likely benign
NM_080742.3(B3GAT2):c.937A>C (p.Lys313Gln)	single nucleotide variant	not specified [RCV004120878]	Chr6:70861698 [GRCh38] Chr6:71571401 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.986T>C (p.Ile329Thr)	single nucleotide variant	not specified [RCV004211600]	Chr6:70857946 [GRCh38] Chr6:71567649 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.1087A>G (p.Ser363Gly)	single nucleotide variant	not specified [RCV004105773]	Chr6:70858047 [GRCh38] Chr6:71567750 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.1175T>C (p.Val392Ala)	single nucleotide variant	not specified [RCV004153349]	Chr6:70858135 [GRCh38] Chr6:71567838 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.1064T>C (p.Leu355Pro)	single nucleotide variant	not specified [RCV004173568]	Chr6:70858024 [GRCh38] Chr6:71567727 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.1312C>A (p.Pro438Thr)	single nucleotide variant	not specified [RCV004221851]	Chr6:70860242 [GRCh38] Chr6:71569945 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.1226T>C (p.Phe409Ser)	single nucleotide variant	not specified [RCV004179476]	Chr6:70858186 [GRCh38] Chr6:71567889 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.302A>G (p.Asn101Ser)	single nucleotide variant	not specified [RCV004222785]	Chr6:70755029 [GRCh38] Chr6:71464732 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.847G>T (p.Asp283Tyr)	single nucleotide variant	not specified [RCV004253667]	Chr6:70856916 [GRCh38] Chr6:71566619 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.403G>A (p.Ala135Thr)	single nucleotide variant	not specified [RCV004351475]	Chr6:70773414 [GRCh38] Chr6:71483117 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.720C>T (p.Asn240=)	single nucleotide variant	not provided [RCV003431901]	Chr6:70852595 [GRCh38] Chr6:71562298 [GRCh37] Chr6:6q13	likely benign
NM_001044305.3(SMAP1):c.506A>G (p.Glu169Gly)	single nucleotide variant	not specified [RCV004459664]	Chr6:70798667 [GRCh38] Chr6:71508370 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.1171G>A (p.Val391Ile)	single nucleotide variant	not specified [RCV004459662]	Chr6:70858131 [GRCh38] Chr6:71567834 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.980C>G (p.Thr327Arg)	single nucleotide variant	not specified [RCV004459665]	Chr6:70857940 [GRCh38] Chr6:71567643 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.551C>T (p.Pro184Leu)	single nucleotide variant	not specified [RCV004667630]	Chr6:70798712 [GRCh38] Chr6:71508415 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.289C>T (p.Leu97Phe)	single nucleotide variant	not specified [RCV004667633]	Chr6:70755016 [GRCh38] Chr6:71464719 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.424T>C (p.Ser142Pro)	single nucleotide variant	not specified [RCV004667631]	Chr6:70791698 [GRCh38] Chr6:71501401 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.363T>G (p.Asp121Glu)	single nucleotide variant	not specified [RCV004667632]	Chr6:70773374 [GRCh38] Chr6:71483077 [GRCh37] Chr6:6q13	uncertain significance
NM_080742.3(B3GAT2):c.754C>G (p.Gln252Glu)	single nucleotide variant	not specified [RCV004599823]	Chr6:70861961 [GRCh38] Chr6:71571664 [GRCh37] Chr6:6q13	uncertain significance
NM_001044305.3(SMAP1):c.962G>A (p.Gly321Asp)	single nucleotide variant	not specified [RCV004667634]	Chr6:70857922 [GRCh38] Chr6:71567625 [GRCh37] Chr6:6q13	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1525
Count of miRNA genes:	682
Interacting mature miRNAs:	773
Transcripts:	ENST00000316999, ENST00000370452, ENST00000370455, ENST00000422334, ENST00000439432, ENST00000445046
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597345928	GWAS1442002_H	neutrophil measurement QTL GWAS1442002 (human)		1e-11	neutrophil measurement		6	70668485	70668486	Human
597301672	GWAS1397746_H	stromal membrane-associated protein 1 measurement QTL GWAS1397746 (human)		9e-14	stromal membrane-associated protein 1 measurement		6	70819328	70819329	Human
597325406	GWAS1421480_H	color vision disorder QTL GWAS1421480 (human)		0.000003	color vision disorder		6	70792627	70792628	Human
1298452	OSTEAR16_H	Osteoarthritis QTL 16 (human)	1.85	0.0016	Joint/bone inflammation	hip osteoarthritis	6	57259072	83259072	Human
597171906	GWAS1267980_H	stromal membrane-associated protein 1 measurement QTL GWAS1267980 (human)		1e-68	stromal membrane-associated protein 1 measurement		6	70681113	70681114	Human

Markers in Region

D6S455

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,518,578 - 71,518,736	UniSTS	GRCh37
GRCh37	6	71,518,584 - 71,518,689	UniSTS	GRCh37
Build 36	6	71,575,299 - 71,575,457	RGD	NCBI36
Celera	6	71,906,941 - 71,907,046	UniSTS
Celera	6	71,906,935 - 71,907,093	RGD
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	6	p12	UniSTS
HuRef	6	68,716,764 - 68,716,871	UniSTS
HuRef	6	68,716,758 - 68,716,918	UniSTS
Marshfield Genetic Map	6	82.59	UniSTS
Marshfield Genetic Map	6	82.59	RGD
Genethon Genetic Map	6	83.6	UniSTS
deCODE Assembly Map	6	85.26	UniSTS
GeneMap99-GB4 RH Map	6	308.66	UniSTS
Whitehead-RH Map	6	460.5	UniSTS
Whitehead-YAC Contig Map	6		UniSTS
NCBI RH Map	6	808.9	UniSTS
GeneMap99-G3 RH Map	6	3589.0	UniSTS

WI-13200

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,571,548 - 71,571,674	UniSTS	GRCh37
Build 36	6	71,628,269 - 71,628,395	RGD	NCBI36
Celera	6	71,959,912 - 71,960,038	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,769,757 - 68,769,883	UniSTS
GeneMap99-GB4 RH Map	6	308.66	UniSTS
Whitehead-RH Map	6	469.1	UniSTS

RH15822

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,566,935 - 71,567,046	UniSTS	GRCh37
Build 36	6	71,623,656 - 71,623,767	RGD	NCBI36
Celera	6	71,955,300 - 71,955,411	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,765,145 - 68,765,256	UniSTS
GeneMap99-GB4 RH Map	6	308.66	UniSTS

RH75302

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,568,032 - 71,568,268	UniSTS	GRCh37
Build 36	6	71,624,753 - 71,624,989	RGD	NCBI36
Celera	6	71,956,396 - 71,956,632	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,766,241 - 68,766,477	UniSTS

RH120555

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,561,246 - 71,561,374	UniSTS	GRCh37
Build 36	6	71,617,967 - 71,618,095	RGD	NCBI36
Celera	6	71,949,601 - 71,949,729	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,759,450 - 68,759,578	UniSTS
TNG Radiation Hybrid Map	6	33546.0	UniSTS

D20S768

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,571,509 - 71,571,633	UniSTS	GRCh37
Build 36	6	71,628,230 - 71,628,354	RGD	NCBI36
Celera	6	71,959,873 - 71,959,997	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,769,718 - 68,769,842	UniSTS

SHGC-150607

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,518,583 - 71,518,728	UniSTS	GRCh37
Build 36	6	71,575,304 - 71,575,449	RGD	NCBI36
Celera	6	71,906,940 - 71,907,085	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,716,763 - 68,716,910	UniSTS
TNG Radiation Hybrid Map	6	33521.0	UniSTS
TNG Radiation Hybrid Map	1	103492.0	UniSTS

G65654

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,566,868 - 71,567,285	UniSTS	GRCh37
Build 36	6	71,623,589 - 71,624,006	RGD	NCBI36
Celera	6	71,955,233 - 71,955,650	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,765,078 - 68,765,495	UniSTS

SHGC-30828

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,567,300 - 71,567,400	UniSTS	GRCh37
Build 36	6	71,624,021 - 71,624,121	RGD	NCBI36
Celera	6	71,955,665 - 71,955,765	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,765,510 - 68,765,610	UniSTS
Stanford-G3 RH Map	6	3276.0	UniSTS
GeneMap99-GB4 RH Map	6	308.43	UniSTS
Whitehead-RH Map	6	469.0	UniSTS
NCBI RH Map	6	819.9	UniSTS
GeneMap99-G3 RH Map	6	3589.0	UniSTS

A003B38

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,571,523 - 71,571,680	UniSTS	GRCh37
Build 36	6	71,628,244 - 71,628,401	RGD	NCBI36
Celera	6	71,959,887 - 71,960,044	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,769,732 - 68,769,889	UniSTS
GeneMap99-GB4 RH Map	6	332.88	UniSTS
NCBI RH Map	6	811.7	UniSTS

D6S1413

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,566,916 - 71,567,093	UniSTS	GRCh37
Build 36	6	71,623,637 - 71,623,814	RGD	NCBI36
Celera	6	71,955,281 - 71,955,458	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,765,126 - 68,765,303	UniSTS
GeneMap99-GB4 RH Map	6	309.01	UniSTS
Whitehead-YAC Contig Map	6		UniSTS
NCBI RH Map	6	809.4	UniSTS

RH18293

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,569,328 - 71,569,448	UniSTS	GRCh37
Build 36	6	71,626,049 - 71,626,169	RGD	NCBI36
Celera	6	71,957,692 - 71,957,812	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,767,537 - 68,767,657	UniSTS
GeneMap99-GB4 RH Map	6	308.55	UniSTS
NCBI RH Map	6	808.3	UniSTS

D6S1180E.1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,571,540 - 71,571,639	UniSTS	GRCh37
Build 36	6	71,628,261 - 71,628,360	RGD	NCBI36
Celera	6	71,959,904 - 71,960,003	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,769,749 - 68,769,848	UniSTS
GeneMap99-GB4 RH Map	6	307.46	UniSTS

D6S1220E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,567,919 - 71,568,041	UniSTS	GRCh37
Build 36	6	71,624,640 - 71,624,762	RGD	NCBI36
Celera	6	71,956,284 - 71,956,405	RGD
Cytogenetic Map	6	q13	UniSTS
HuRef	6	68,766,129 - 68,766,250	UniSTS
GeneMap99-GB4 RH Map	6	309.8	UniSTS
NCBI RH Map	6	814.0	UniSTS

D6S455

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	6	q13	UniSTS
GeneMap99-G3 RH Map	6	3589.0	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2252	4973	1726	2351	5	624	1951	465	2269	7301	6468	53	3734	1	851	1742	1616	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001044305	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001281439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001281440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_021940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005248760	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011536045	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011536046	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011536047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011536048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017011170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419227	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356166	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356168	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356169	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF442495	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH011147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023221	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074340	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124239	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222711	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303387	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307807	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315579	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL354943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL591049	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833906	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY055003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY055004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036123	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA527013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB480952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000316999 ⟹ ENSP00000313382

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	70,667,776 - 70,861,166 (+)	Ensembl

Ensembl Acc Id:

ENST00000370452 ⟹ ENSP00000359481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	70,667,776 - 70,861,166 (+)	Ensembl

Ensembl Acc Id:

ENST00000370455 ⟹ ENSP00000359484

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	70,667,883 - 70,862,003 (+)	Ensembl

Ensembl Acc Id:

ENST00000439432 ⟹ ENSP00000398306

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	70,773,389 - 70,837,912 (+)	Ensembl

Ensembl Acc Id:

ENST00000445046 ⟹ ENSP00000415426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	70,772,929 - 70,791,769 (+)	Ensembl

Ensembl Acc Id:

ENST00000619054 ⟹ ENSP00000484538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	70,668,530 - 70,862,011 (+)	Ensembl

RefSeq Acc Id:

NM_001044305 ⟹ NP_001037770

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,667,883 - 70,862,003 (+)	NCBI
Build 36	6	71,434,200 - 71,628,439 (+)	NCBI Archive
Celera	6	71,765,844 - 71,960,082 (+)	RGD
HuRef	6	68,575,653 - 68,769,927 (+)	NCBI
CHM1_1	6	71,543,807 - 71,738,003 (+)	NCBI
T2T-CHM13v2.0	6	71,848,459 - 72,042,541 (+)	NCBI

Sequence:

show sequence

CTCCCGTTCCAGCTGCCGCTGCCGCTTCCTGGGCTGAGTCCGCCCGCGGTCCCGGCGGCGCCAG
GTGCGTTCACTCTGCCCGGCTCCAGCCAGCGTCCGCCGCCGCCGTAGCTGCCCCAGGCTCCCCG
CCCCGCTGCCGAGATGGCGACGCGCTCCTGTCGGGAGAAGGCTCAGAAGCTGAACGAGCAGCAC
CAGCTCATCCTATCCAAGCTTCTGAGGGAGGAGGACAACAAGTACTGCGCCGACTGCGAGGCCA
AAGGTCCTCGATGGGCTTCCTGGAATATTGGTGTGTTTATTTGCATCAGATGTGCTGGAATTCA
TAGAAATCTTGGGGTTCATATATCCAGGGTCAAATCAGTCAACCTAGACCAATGGACAGCAGAA
CAGATACAGTGCATGCAAGATATGGGAAATACTAAAGCAAGACTACTCTATGAAGCCAATCTTC
CAGAGAACTTTCGAAGACCACAGACAGATCAAGCAGTGGAATTTTTCATCAGAGATAAATATGA
AAAGAAGAAATACTACGATAAAAATGCCATAGCTATTACAAATATTTCCTCCTCTGATGCTCCT
CTTCAGCCTTTGGTATCCTCTCCTTCTCTGCAAGCTGCTGTTGACAAAAATAAATTGGAGAAAG
AAAAGGAAAAAAAAAAGGAAGAGAAAAAGAGAGAAAAGGAGCCAGAAAAGCCGGCAAAACCACT
TACAGCTGAAAAGCTGCAGAAGAAAGATCAGCAACTGGAGCCTAAAAAAAGTACCAGCCCTAAA
AAAGCTGCGGAGCCCACTGTGGATCTTTTAGGACTTGATGGCCCTGCTGTGGCACCAGTGACCA
ACGGGAACACAACGGTGCCACCCCTGAACGATGATCTGGACATCTTTGGACCGATGATTTCTAA
TCCCTTACCTGCAACTGTCATGCCCCCAGCTCAGGGGACACCCTCTGCACCAGCAGCTGCAACC
CTGTCTACAGTAACATCTGGGGATCTAGATTTATTCACTGAGCAAACTACAAAATCAGAAGAAG
TGGCAAAGAAACAACTTTCCAAAGACTCCATCTTATCTCTGTATGGCACAGGAACCATTCAACA
GCAAAGTACTCCTGGTGTATTTATGGGACCCACAAATATACCATTTACCTCACAAGCACCAGCT
GCATTTCAGGGCTTTCCATCGATGGGCGTGCCTGTGCCTGCAGCTCCTGGCCTTATAGGAAATG
TGATGGGACAGAGTCCAAGCATGATGGTGGGCATGCCCATGCCCAATGGGTTTATGGGAAATGC
ACAAACTGGTGTGATGCCACTTCCTCAGAACGTTGTTGGCCCCCAAGGAGGAATGGTGGGACAA
ATGGGTGCACCCCAGAGTAAGTTTGGCCTGCCGCAAGCTCAGCAGCCCCAGTGGAGCCTCTCAC
AGATGAATCAGCAGATGGCTGGCATGAGTATCAGTAGTGCAACCCCTACTGCAGGTTTTGGCCA
GCCCTCCAGCACAACAGCAGGATGGTCTGGAAGCTCATCAGGTCAGACTCTCAGCACACAACTG
TGGAAATGAAAACTGCAATACAAGTTTCATCCAGAACTACCACCTGACATTCCTTGCTGAAACG
CATCTAGTTCCCCTGTTTATTCATATGCATATTTTTTTTCTTTTTACCCATTTGTTCATATTAA
GAATGATCTGATTGACCGTGTTGGTCTGTACTGATTCAATTTGATGTGGTGAAAAGCAGGTTGA
TAAATCATTTTATGTCAAGGGCAGCTTTGCTCATATTTCCCATGATTTCATGTACTGCATTATT
TGAGAAGCTGCTCAACTTGCAAAATCAGTTTTCCTCTCAATAAAATTATAGCTCTAATGTTTGC
ATATAAGGGAAGTAGTTATCATGTTAGTAATACCTCTAATAGTATAAACCCCACCCCAAAATTA
GCCAGTAATCCTGTAGGAAGGTACTGTATGATCAAATGTTTAATCATATAAATAGAATGTAAAT
GTCTCACTGAGCACTGTTTTCTAGTGTATCAAAATGCTCTTATTTCATCATTCACTTCACTGTG
CTGTTGTTATGATGTGCTTAACAGGGAACGTGATTAGTGAAAGGAAGATAAACGTGGATGTTAC
TCCAAAACTTCGTTTAATGAATGCTTAAAGAATTCAAATTTTATCTGCCTCTCTTGTAATTTGG
ATCTCTTCTTAATGTACATAGTGCTAACATGAAGACCTTTTTCTGCACTATATGCAAACAGGGT
AACTAACTAAAACAAAGCCACTTTCAATCTTCAATCCTTGAAGGTATATCTAGGTTTATGACAG
TAATTGTGTTTACATTTTATGGTGCCTAGTATTGACAAAATGTTATTTCCCTACATTAAACATG
ACTCCATAGACCTTTTCATTTGTGGGTTTTTATTTCCTATGATGTATACTGCCACTAACCTTCC
AAAAATTACTTAGTATTGCAAAGTCAGGAATCATCAGGAACGTTTAGCTGACAAAATACTTGTC
TGTTTTAAAAACCTGTTCAAGTCTACCAACCTGTTCAAGTCTACCAATTATAAGGGCAAATTGG
AGAAAAAGAAAAAATATATACTCAAGAGTGGTATCTTGCAGTATCGGCACTGTACAAAAAAATC
TTCCAATTTAGTTGTTGTAGAGAAAACATGCAGAACAAATGAAGACAAAACATACATTTTGTAC
CAACCATCCAATTAGCTTATGTTAACTGACAAGCTCCATTTAAACAGATGTCCATCAGATGACA
AGAAAGGCTGCTGTACTGAAGTAAAACAAACAATACCTGAATGCTCTGTAGCCTAAACTCCAAA
CATCCTCTTCCATATGGATCCACTGGCTGGACAAACTGCACCAGTTGCTGCTTCAATTTATACC
TCAATTTTCACTGTGTCCAGGTGGTACTTTGGCTCGTTGGCTAGATTAACCTTCTCTGTCCGAG
TGTGCCACACGAGAACCTGAAGGGGAAGGAAATAGCTTGGGTAGCGCACTCTTCATGGTGACAC
TCGAGGTCGGGCAGCACAAGTGTAATGAATACCTTAGTGCAGTTATTTGCTTTCGGTTCCAGTT
CTTCGACTGTTGTTATCTGTTTGAGAAAGTCAGATTCTTGCATCCCTGGCTGGGATCCACGACG
CTTAAATACAGCTTTTGGATTGGACAAAATGACTTGAAGACTTACAGCAAATCCTTTGTGAAAA
ATAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001281439 ⟹ NP_001268368

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,667,883 - 70,862,003 (+)	NCBI
GRCh37	6	71,377,474 - 71,571,718 (+)	NCBI
HuRef	6	68,575,653 - 68,769,927 (+)	NCBI
CHM1_1	6	71,543,807 - 71,738,003 (+)	NCBI
T2T-CHM13v2.0	6	71,848,459 - 72,042,541 (+)	NCBI

Sequence:

show sequence

CTCCCGTTCCAGCTGCCGCTGCCGCTTCCTGGGCTGAGTCCGCCCGCGGTCCCGGCGGCGCCAG
GTGCGTTCACTCTGCCCGGCTCCAGCCAGCGTCCGCCGCCGCCGTAGCTGCCCCAGGCTCCCCG
CCCCGCTGCCGAGATGGCGACGCGCTCCTGTCGGGAGAAGGCTCAGAAGCTGAACGAGCAGCAC
CAGCTCATCCTATCCAAGCTTCTGAGGGAGGAGGACAACAAGTACTGCGCCGACTGCGAGGCCA
AAGGTCCTCGATGGGCTTCCTGGAATATTGGTGTGTTTATTTGCATCAGATGTGCTGGAATTCA
TAGAAATCTTGGGGTTCATATATCCAGGGTCAAATCAGTCAACCTAGACCAATGGACAGCAGAA
CAGATACAGTGCATGCAAGATATGGGAAATACTAAAGCAAGACTACTCTATGAAGCCAATCTTC
CAGAGAACTTTCGAAGACCACAGACAGATCAAGCAGTGGAATTTTTCATCAGAGATAAATATGA
AAAGAAGAAATACTACGATAAAAATGCCATAGCTATTACAAATAAAGAAAAGGAAAAAAAAAAG
GAAGAGAAAAAGAGAGAAAAGGAGCCAGAAAAGCCGGCAAAACCACTTACAGCTGAAAAGCTGC
AGAAGAAAGATCAGCAACTGGAGCCTAAAAAAAGTACCAGCCCTAAAAAAGCTGCGGAGCCCAC
TGTGGATCTTTTAGGACTTGATGGCCCTGCTGTGGCACCAGTGACCAACGGGAACACAACGGTG
CCACCCCTGAACGATGATCTGGACATCTTTGGACCGATGATTTCTAATCCCTTACCTGCAACTG
TCATGCCCCCAGCTCAGGGGACACCCTCTGCACCAGCAGCTGCAACCCTGTCTACAGTAACATC
TGGGGATCTAGATTTATTCACTGAGCAAACTACAAAATCAGAAGAAGTGGCAAAGAAACAACTT
TCCAAAGACTCCATCTTATCTCTGTATGGCACAGGAACCATTCAACAGCAAAGTACTCCTGGTG
TATTTATGGGACCCACAAATATACCATTTACCTCACAAGCACCAGCTGCATTTCAGGGCTTTCC
ATCGATGGGCGTGCCTGTGCCTGCAGCTCCTGGCCTTATAGGAAATGTGATGGGACAGAGTCCA
AGCATGATGGTGGGCATGCCCATGCCCAATGGGTTTATGGGAAATGCACAAACTGGTGTGATGC
CACTTCCTCAGAACGTTGTTGGCCCCCAAGGAGGAATGGTGGGACAAATGGGTGCACCCCAGAG
TAAGTTTGGCCTGCCGCAAGCTCAGCAGCCCCAGTGGAGCCTCTCACAGATAATGCAGAAGGGT
GATGCTGTTCTCCAGCACTCCATCAGTGCAATCTACTGGCCAATGACAAGGTGGTTAAAATGTC
CTTTAGTAGATGAATCAGCAGATGGCTGGCATGAGTATCAGTAGTGCAACCCCTACTGCAGGTT
TTGGCCAGCCCTCCAGCACAACAGCAGGATGGTCTGGAAGCTCATCAGGTCAGACTCTCAGCAC
ACAACTGTGGAAATGAAAACTGCAATACAAGTTTCATCCAGAACTACCACCTGACATTCCTTGC
TGAAACGCATCTAGTTCCCCTGTTTATTCATATGCATATTTTTTTTCTTTTTACCCATTTGTTC
ATATTAAGAATGATCTGATTGACCGTGTTGGTCTGTACTGATTCAATTTGATGTGGTGAAAAGC
AGGTTGATAAATCATTTTATGTCAAGGGCAGCTTTGCTCATATTTCCCATGATTTCATGTACTG
CATTATTTGAGAAGCTGCTCAACTTGCAAAATCAGTTTTCCTCTCAATAAAATTATAGCTCTAA
TGTTTGCATATAAGGGAAGTAGTTATCATGTTAGTAATACCTCTAATAGTATAAACCCCACCCC
AAAATTAGCCAGTAATCCTGTAGGAAGGTACTGTATGATCAAATGTTTAATCATATAAATAGAA
TGTAAATGTCTCACTGAGCACTGTTTTCTAGTGTATCAAAATGCTCTTATTTCATCATTCACTT
CACTGTGCTGTTGTTATGATGTGCTTAACAGGGAACGTGATTAGTGAAAGGAAGATAAACGTGG
ATGTTACTCCAAAACTTCGTTTAATGAATGCTTAAAGAATTCAAATTTTATCTGCCTCTCTTGT
AATTTGGATCTCTTCTTAATGTACATAGTGCTAACATGAAGACCTTTTTCTGCACTATATGCAA
ACAGGGTAACTAACTAAAACAAAGCCACTTTCAATCTTCAATCCTTGAAGGTATATCTAGGTTT
ATGACAGTAATTGTGTTTACATTTTATGGTGCCTAGTATTGACAAAATGTTATTTCCCTACATT
AAACATGACTCCATAGACCTTTTCATTTGTGGGTTTTTATTTCCTATGATGTATACTGCCACTA
ACCTTCCAAAAATTACTTAGTATTGCAAAGTCAGGAATCATCAGGAACGTTTAGCTGACAAAAT
ACTTGTCTGTTTTAAAAACCTGTTCAAGTCTACCAACCTGTTCAAGTCTACCAATTATAAGGGC
AAATTGGAGAAAAAGAAAAAATATATACTCAAGAGTGGTATCTTGCAGTATCGGCACTGTACAA
AAAAATCTTCCAATTTAGTTGTTGTAGAGAAAACATGCAGAACAAATGAAGACAAAACATACAT
TTTGTACCAACCATCCAATTAGCTTATGTTAACTGACAAGCTCCATTTAAACAGATGTCCATCA
GATGACAAGAAAGGCTGCTGTACTGAAGTAAAACAAACAATACCTGAATGCTCTGTAGCCTAAA
CTCCAAACATCCTCTTCCATATGGATCCACTGGCTGGACAAACTGCACCAGTTGCTGCTTCAAT
TTATACCTCAATTTTCACTGTGTCCAGGTGGTACTTTGGCTCGTTGGCTAGATTAACCTTCTCT
GTCCGAGTGTGCCACACGAGAACCTGAAGGGGAAGGAAATAGCTTGGGTAGCGCACTCTTCATG
GTGACACTCGAGGTCGGGCAGCACAAGTGTAATGAATACCTTAGTGCAGTTATTTGCTTTCGGT
TCCAGTTCTTCGACTGTTGTTATCTGTTTGAGAAAGTCAGATTCTTGCATCCCTGGCTGGGATC
CACGACGCTTAAATACAGCTTTTGGATTGGACAAAATGACTTGAAGACTTACAGCAAATCCTTT
GTGAAAAATAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001281440 ⟹ NP_001268369

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,668,530 - 70,862,015 (+)	NCBI
GRCh37	6	71,377,474 - 71,571,718 (+)	NCBI
HuRef	6	68,575,653 - 68,769,927 (+)	NCBI
CHM1_1	6	71,544,566 - 71,738,003 (+)	NCBI
T2T-CHM13v2.0	6	71,849,106 - 72,042,553 (+)	NCBI

Sequence:

show sequence

ATCTCTGTGGGTGGGGCCGCGCTTAGGTCTGGATCCCCTCCTCTACCCTCCGGTGTGACCACGT
CCTCCCACTCCGGGCTCGGATTCTTGGTCTCCTAGATGGAGCCCTACCTGCCTGCCCACCTGAC
AGCTTTTGTACAAGGCTTTTATCTCTGCTTCCTGAAAAAGAGTATGGTGGTCTTTTTCGGTCCT
CGATGGGCTTCCTGGAATATTGGTGTGTTTATTTGCATCAGATGTGCTGGAATTCATAGAAATC
TTGGGGTTCATATATCCAGGGTCAAATCAGTCAACCTAGACCAATGGACAGCAGAACAGATACA
GTGCATGCAAGATATGGGAAATACTAAAGCAAGACTACTCTATGAAGCCAATCTTCCAGAGAAC
TTTCGAAGACCACAGACAGATCAAGCAGTGGAATTTTTCATCAGAGATAAATATGAAAAGAAGA
AATACTACGATAAAAATGCCATAGCTATTACAAATATTTCCTCCTCTGATGCTCCTCTTCAGCC
TTTGGTATCCTCTCCTTCTCTGCAAGCTGCTGTTGACAAAAATAAATTGGAGAAAGAAAAGGAA
AAAAAAAAGGAAGAGAAAAAGAGAGAAAAGGAGCCAGAAAAGCCGGCAAAACCACTTACAGCTG
AAAAGCTGCAGAAGAAAGATCAGCAACTGGAGCCTAAAAAAAGTACCAGCCCTAAAAAAGCTGC
GGAGCCCACTGTGGATCTTTTAGGACTTGATGGCCCTGCTGTGGCACCAGTGACCAACGGGAAC
ACAACGGTGCCACCCCTGAACGATGATCTGGACATCTTTGGACCGATGATTTCTAATCCCTTAC
CTGCAACTGTCATGCCCCCAGCTCAGGGGACACCCTCTGCACCAGCAGCTGCAACCCTGTCTAC
AGTAACATCTGGGGATCTAGATTTATTCACTGAGCAAACTACAAAATCAGAAGAAGTGGCAAAG
AAACAACTTTCCAAAGACTCCATCTTATCTCTGTATGGCACAGGAACCATTCAACAGCAAAGTA
CTCCTGGTGTATTTATGGGACCCACAAATATACCATTTACCTCACAAGCACCAGCTGCATTTCA
GGGCTTTCCATCGATGGGCGTGCCTGTGCCTGCAGCTCCTGGCCTTATAGGAAATGTGATGGGA
CAGAGTCCAAGCATGATGGTGGGCATGCCCATGCCCAATGGGTTTATGGGAAATGCACAAACTG
GTGTGATGCCACTTCCTCAGAACGTTGTTGGCCCCCAAGGAGGAATGGTGGGACAAATGGGTGC
ACCCCAGAGTAAGTTTGGCCTGCCGCAAGCTCAGCAGCCCCAGTGGAGCCTCTCACAGATGAAT
CAGCAGATGGCTGGCATGAGTATCAGTAGTGCAACCCCTACTGCAGGTTTTGGCCAGCCCTCCA
GCACAACAGCAGGATGGTCTGGAAGCTCATCAGGTCAGACTCTCAGCACACAACTGTGGAAATG
AAAACTGCAATACAAGTTTCATCCAGAACTACCACCTGACATTCCTTGCTGAAACGCATCTAGT
TCCCCTGTTTATTCATATGCATATTTTTTTTCTTTTTACCCATTTGTTCATATTAAGAATGATC
TGATTGACCGTGTTGGTCTGTACTGATTCAATTTGATGTGGTGAAAAGCAGGTTGATAAATCAT
TTTATGTCAAGGGCAGCTTTGCTCATATTTCCCATGATTTCATGTACTGCATTATTTGAGAAGC
TGCTCAACTTGCAAAATCAGTTTTCCTCTCAATAAAATTATAGCTCTAATGTTTGCATATAAGG
GAAGTAGTTATCATGTTAGTAATACCTCTAATAGTATAAACCCCACCCCAAAATTAGCCAGTAA
TCCTGTAGGAAGGTACTGTATGATCAAATGTTTAATCATATAAATAGAATGTAAATGTCTCACT
GAGCACTGTTTTCTAGTGTATCAAAATGCTCTTATTTCATCATTCACTTCACTGTGCTGTTGTT
ATGATGTGCTTAACAGGGAACGTGATTAGTGAAAGGAAGATAAACGTGGATGTTACTCCAAAAC
TTCGTTTAATGAATGCTTAAAGAATTCAAATTTTATCTGCCTCTCTTGTAATTTGGATCTCTTC
TTAATGTACATAGTGCTAACATGAAGACCTTTTTCTGCACTATATGCAAACAGGGTAACTAACT
AAAACAAAGCCACTTTCAATCTTCAATCCTTGAAGGTATATCTAGGTTTATGACAGTAATTGTG
TTTACATTTTATGGTGCCTAGTATTGACAAAATGTTATTTCCCTACATTAAACATGACTCCATA
GACCTTTTCATTTGTGGGTTTTTATTTCCTATGATGTATACTGCCACTAACCTTCCAAAAATTA
CTTAGTATTGCAAAGTCAGGAATCATCAGGAACGTTTAGCTGACAAAATACTTGTCTGTTTTAA
AAACCTGTTCAAGTCTACCAACCTGTTCAAGTCTACCAATTATAAGGGCAAATTGGAGAAAAAG
AAAAAATATATACTCAAGAGTGGTATCTTGCAGTATCGGCACTGTACAAAAAAATCTTCCAATT
TAGTTGTTGTAGAGAAAACATGCAGAACAAATGAAGACAAAACATACATTTTGTACCAACCATC
CAATTAGCTTATGTTAACTGACAAGCTCCATTTAAACAGATGTCCATCAGATGACAAGAAAGGC
TGCTGTACTGAAGTAAAACAAACAATACCTGAATGCTCTGTAGCCTAAACTCCAAACATCCTCT
TCCATATGGATCCACTGGCTGGACAAACTGCACCAGTTGCTGCTTCAATTTATACCTCAATTTT
CACTGTGTCCAGGTGGTACTTTGGCTCGTTGGCTAGATTAACCTTCTCTGTCCGAGTGTGCCAC
ACGAGAACCTGAAGGGGAAGGAAATAGCTTGGGTAGCGCACTCTTCATGGTGACACTCGAGGTC
GGGCAGCACAAGTGTAATGAATACCTTAGTGCAGTTATTTGCTTTCGGTTCCAGTTCTTCGACT
GTTGTTATCTGTTTGAGAAAGTCAGATTCTTGCATCCCTGGCTGGGATCCACGACGCTTAAATA
CAGCTTTTGGATTGGACAAAATGACTTGAAGACTTACAGCAAATCCTTTGTGAAAAATAAAAAA
AAAAAAGAGACTTTAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_021940 ⟹ NP_068759

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,667,883 - 70,862,003 (+)	NCBI
GRCh37	6	71,377,474 - 71,571,718 (+)	NCBI
Build 36	6	71,434,200 - 71,628,439 (+)	NCBI Archive
Celera	6	71,765,844 - 71,960,082 (+)	RGD
HuRef	6	68,575,653 - 68,769,927 (+)	NCBI
CHM1_1	6	71,543,807 - 71,738,003 (+)	NCBI
T2T-CHM13v2.0	6	71,848,459 - 72,042,541 (+)	NCBI

Sequence:

show sequence

CTCCCGTTCCAGCTGCCGCTGCCGCTTCCTGGGCTGAGTCCGCCCGCGGTCCCGGCGGCGCCAG
GTGCGTTCACTCTGCCCGGCTCCAGCCAGCGTCCGCCGCCGCCGTAGCTGCCCCAGGCTCCCCG
CCCCGCTGCCGAGATGGCGACGCGCTCCTGTCGGGAGAAGGCTCAGAAGCTGAACGAGCAGCAC
CAGCTCATCCTATCCAAGCTTCTGAGGGAGGAGGACAACAAGTACTGCGCCGACTGCGAGGCCA
AAGGTCCTCGATGGGCTTCCTGGAATATTGGTGTGTTTATTTGCATCAGATGTGCTGGAATTCA
TAGAAATCTTGGGGTTCATATATCCAGGGTCAAATCAGTCAACCTAGACCAATGGACAGCAGAA
CAGATACAGTGCATGCAAGATATGGGAAATACTAAAGCAAGACTACTCTATGAAGCCAATCTTC
CAGAGAACTTTCGAAGACCACAGACAGATCAAGCAGTGGAATTTTTCATCAGAGATAAATATGA
AAAGAAGAAATACTACGATAAAAATGCCATAGCTATTACAAATAAAGAAAAGGAAAAAAAAAAG
GAAGAGAAAAAGAGAGAAAAGGAGCCAGAAAAGCCGGCAAAACCACTTACAGCTGAAAAGCTGC
AGAAGAAAGATCAGCAACTGGAGCCTAAAAAAAGTACCAGCCCTAAAAAAGCTGCGGAGCCCAC
TGTGGATCTTTTAGGACTTGATGGCCCTGCTGTGGCACCAGTGACCAACGGGAACACAACGGTG
CCACCCCTGAACGATGATCTGGACATCTTTGGACCGATGATTTCTAATCCCTTACCTGCAACTG
TCATGCCCCCAGCTCAGGGGACACCCTCTGCACCAGCAGCTGCAACCCTGTCTACAGTAACATC
TGGGGATCTAGATTTATTCACTGAGCAAACTACAAAATCAGAAGAAGTGGCAAAGAAACAACTT
TCCAAAGACTCCATCTTATCTCTGTATGGCACAGGAACCATTCAACAGCAAAGTACTCCTGGTG
TATTTATGGGACCCACAAATATACCATTTACCTCACAAGCACCAGCTGCATTTCAGGGCTTTCC
ATCGATGGGCGTGCCTGTGCCTGCAGCTCCTGGCCTTATAGGAAATGTGATGGGACAGAGTCCA
AGCATGATGGTGGGCATGCCCATGCCCAATGGGTTTATGGGAAATGCACAAACTGGTGTGATGC
CACTTCCTCAGAACGTTGTTGGCCCCCAAGGAGGAATGGTGGGACAAATGGGTGCACCCCAGAG
TAAGTTTGGCCTGCCGCAAGCTCAGCAGCCCCAGTGGAGCCTCTCACAGATGAATCAGCAGATG
GCTGGCATGAGTATCAGTAGTGCAACCCCTACTGCAGGTTTTGGCCAGCCCTCCAGCACAACAG
CAGGATGGTCTGGAAGCTCATCAGGTCAGACTCTCAGCACACAACTGTGGAAATGAAAACTGCA
ATACAAGTTTCATCCAGAACTACCACCTGACATTCCTTGCTGAAACGCATCTAGTTCCCCTGTT
TATTCATATGCATATTTTTTTTCTTTTTACCCATTTGTTCATATTAAGAATGATCTGATTGACC
GTGTTGGTCTGTACTGATTCAATTTGATGTGGTGAAAAGCAGGTTGATAAATCATTTTATGTCA
AGGGCAGCTTTGCTCATATTTCCCATGATTTCATGTACTGCATTATTTGAGAAGCTGCTCAACT
TGCAAAATCAGTTTTCCTCTCAATAAAATTATAGCTCTAATGTTTGCATATAAGGGAAGTAGTT
ATCATGTTAGTAATACCTCTAATAGTATAAACCCCACCCCAAAATTAGCCAGTAATCCTGTAGG
AAGGTACTGTATGATCAAATGTTTAATCATATAAATAGAATGTAAATGTCTCACTGAGCACTGT
TTTCTAGTGTATCAAAATGCTCTTATTTCATCATTCACTTCACTGTGCTGTTGTTATGATGTGC
TTAACAGGGAACGTGATTAGTGAAAGGAAGATAAACGTGGATGTTACTCCAAAACTTCGTTTAA
TGAATGCTTAAAGAATTCAAATTTTATCTGCCTCTCTTGTAATTTGGATCTCTTCTTAATGTAC
ATAGTGCTAACATGAAGACCTTTTTCTGCACTATATGCAAACAGGGTAACTAACTAAAACAAAG
CCACTTTCAATCTTCAATCCTTGAAGGTATATCTAGGTTTATGACAGTAATTGTGTTTACATTT
TATGGTGCCTAGTATTGACAAAATGTTATTTCCCTACATTAAACATGACTCCATAGACCTTTTC
ATTTGTGGGTTTTTATTTCCTATGATGTATACTGCCACTAACCTTCCAAAAATTACTTAGTATT
GCAAAGTCAGGAATCATCAGGAACGTTTAGCTGACAAAATACTTGTCTGTTTTAAAAACCTGTT
CAAGTCTACCAACCTGTTCAAGTCTACCAATTATAAGGGCAAATTGGAGAAAAAGAAAAAATAT
ATACTCAAGAGTGGTATCTTGCAGTATCGGCACTGTACAAAAAAATCTTCCAATTTAGTTGTTG
TAGAGAAAACATGCAGAACAAATGAAGACAAAACATACATTTTGTACCAACCATCCAATTAGCT
TATGTTAACTGACAAGCTCCATTTAAACAGATGTCCATCAGATGACAAGAAAGGCTGCTGTACT
GAAGTAAAACAAACAATACCTGAATGCTCTGTAGCCTAAACTCCAAACATCCTCTTCCATATGG
ATCCACTGGCTGGACAAACTGCACCAGTTGCTGCTTCAATTTATACCTCAATTTTCACTGTGTC
CAGGTGGTACTTTGGCTCGTTGGCTAGATTAACCTTCTCTGTCCGAGTGTGCCACACGAGAACC
TGAAGGGGAAGGAAATAGCTTGGGTAGCGCACTCTTCATGGTGACACTCGAGGTCGGGCAGCAC
AAGTGTAATGAATACCTTAGTGCAGTTATTTGCTTTCGGTTCCAGTTCTTCGACTGTTGTTATC
TGTTTGAGAAAGTCAGATTCTTGCATCCCTGGCTGGGATCCACGACGCTTAAATACAGCTTTTG
GATTGGACAAAATGACTTGAAGACTTACAGCAAATCCTTTGTGAAAAATAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_005248760 ⟹ XP_005248817

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,667,883 - 70,837,909 (+)	NCBI
GRCh37	6	71,377,474 - 71,571,718 (+)	NCBI

Sequence:

show sequence

CTCCCGTTCCAGCTGCCGCTGCCGCTTCCTGGGCTGAGTCCGCCCGCGGTCCCGGCGGCGCCAG
GTGCGTTCACTCTGCCCGGCTCCAGCCAGCGTCCGCCGCCGCCGTAGCTGCCCCAGGCTCCCCG
CCCCGCTGCCGAGATGGCGACGCGCTCCTGTCGGGAGAAGGCTCAGAAGCTGAACGAGCAGCAC
CAGCTCATCCTATCCAAGCTTCTGAGGGAGGAGGACAACAAGTACTGCGCCGACTGCGAGGCCA
AAGGTCCTCGATGGGCTTCCTGGAATATTGGTGTGTTTATTTGCATCAGATGTGCTGGAATTCA
TAGAAATCTTGGGGTTCATATATCCAGGGTCAAATCAGTCAACCTAGACCAATGGACAGCAGAA
CAGATACAGTGCATGCAAGATATGGGAAATACTAAAGCAAGACTACTCTATGAAGCCAATCTTC
CAGAGAACTTTCGAAGACCACAGACAGATCAAGCAGTGGAATTTTTCATCAGAGATAAATATGA
AAAGAAGAAATACTACGATAAAAATGCCATAGCTATTACAAATATTTCCTCCTCTGATGCTCCT
CTTCAGCCTTTGGTATCCTCTCCTTCTCTGCAAGCTGCTGTTGACAAAAATAAATTGGAGAAAG
AAAAGGAAAAAAAAAAGGAAGAGAAAAAGAGAGAAAAGGAGCCAGAAAAGCCGGCAAAACCACT
TACAGCTGAAAAGCTGCAGAAGAAAGATCAGCAACTGGAGCCTAAAAAAAGTACCAGCCCTAAA
AAAGCTGCGGAGCCCACTGTGGATCTTTTAGGACTTGTTTGGAGAAAGATTGAGAAGGAAAAGA
GTGAAAGGCAGTTAGTTGAAGTGGAAGAGTTGACCTTCATGTACTGCTTTCCAAAAAATTGATC
CTAGTTGTTATTGAATAAATTGTTGTCTGTTTTAAGAATTATA

hide sequence

RefSeq Acc Id:

XM_011536047 ⟹ XP_011534349

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,667,883 - 70,859,514 (+)	NCBI

Sequence:

show sequence

CTCCCGTTCCAGCTGCCGCTGCCGCTTCCTGGGCTGAGTCCGCCCGCGGTCCCGGCGGCGCCAG
GTGCGTTCACTCTGCCCGGCTCCAGCCAGCGTCCGCCGCCGCCGTAGCTGCCCCAGGCTCCCCG
CCCCGCTGCCGAGATGGCGACGCGCTCCTGTCGGGAGAAGGCTCAGAAGCTGAACGAGCAGCAC
CAGCTCATCCTATCCAAGCTTCTGAGGGAGGAGGACAACAAGTACTGCGCCGACTGCGAGGCCA
AAGGTCCTCGATGGGCTTCCTGGAATATTGGTGTGTTTATTTGCATCAGATGTGCTGGAATTCA
TAGAAATCTTGGGGTTCATATATCCAGGGTCAAATCAGTCAACCTAGACCAATGGACAGCAGAA
CAGATACAGTGCATGCAAGATATGGGAAATACTAAAGCAAGACTACTCTATGAAGCCAATCTTC
CAGAGAACTTTCGAAGACCACAGACAGATCAAGCAGTGGAATTTTTCATCAGAGATAAATATGA
AAAGAAGAAATACTACGATAAAAATGCCATAGCTATTACAAATAAAGAAAAGGAAAAAAAAAAG
GAAGAGAAAAAGAGAGAAAAGGAGCCAGAAAAGCCGGCAAAACCACTTACAGCTGAAAAGCTGC
AGAAGAAAGATCAGCAACTGGAGCCTAAAAAAAGTACCAGCCCTAAAAAAGCTGCGGAGCCCAC
TGTGGATCTTTTAGGACTTGATGGCCCTGCTGTGGCACCAGTGACCAACGGGAACACAACGGTG
CCACCCCTGAACGATGATCTGGACATCTTTGGACCGATGATTTCTAATCCCTTACCTGCAACTG
TCATGCCCCCAGCTCAGGGGACACCCTCTGCACCAGCAGCTGCAACCCTGTCTACAGTAACATC
TGGGGATCTAGATTTATTCACTGAGCAAACTACAAAATCAGAAGAAGTGGCAAAGAAACAACTT
TCCAAAGACTCCATCTTATCTCTGTATGGCACAGGAACCATTCAACAGCAAAGTACTCCTGGTG
TATTTATGGGACCCACAAATATACCATTTACCTCACAAGCACCAGCTGCATTTCAGGGCTTTCC
ATCGATGGGCGTGCCTGTGCCTGCAGCTCCTGGCCTTATAGGAAATGTGATGGGACAGAGTCCA
AGCATGATGGTGGGCATGCCCATGCCCAATGGGTTTATGGGAAATGCACAAACTGGTGTGATGC
CACTTCCTCAGAACGTTGTTGGCCCCCAAGGAGGAATGGTGGGACAAATGGGTGCACCCCAGAG
TAAGTTTGGCCTGCCGCAAGCTCAGCAGCCCCAGTGGAGCCTCTCACAGATAATGCAGAAGGGT
GATGCTGTTCTCCAGCACTCCATCAGTGCAATCTACTGGCCAATGACAAGGTGGTTAAAATGTC
CTTTAGTAGGTATGAAGACGTGATCTGCTTCTTCAGACACTTATGCCTGATTAGTGATGTAGTT
TATGTTAGTGTCTTTGAAACTGTAAATAAGTCAAGTCAAATGTATTAAATTAAGAACACAGTCT
AACTCTGAGTGTAAGTTTTAAACCCACTCACTATATGGTAAATCTTGCCTTTCCTTCTCTTATC
ACCAATTTTGGAAGTAAGAGAATCACAGGGTTAAGATGCTTATATATATATATATTTGACTCCA
GTCTTGAAGAAAAATACATGTAATCTTATGCTTTATTGCATACAATGAAAATAAATTTTAGATG
TTTATGTTGTTAGATCAGCGAGAGAAATAAATGCTTTATGACCACTTTAAAAATATTTAGGAAG
TATATAAGATTTTAATAGAGAATAATATCTATCATACAAAGTTTATAGGATAATTTTAGACTAT
TTTACTTCCTAAAATTTTCTTACTCCTTAGTAGTTAAAGCACAATATCCTAGTGTAGGTGAAAG
TTAGTTAGAGTAGCGGACTCATTAAAATCCCAAGATTGCTTTGGTATTTTTTTTTAAGTAAGTT
GTGGTTAATCTTTGGGGAAACTGTATCTAGAAAGTAGATAAAGAAGGGAACAAAGTAGCTATTT
GCTTTAAGAAATATTTGTATGGTACTCTGTTTTTATTCCAGTGCTTGGACTAGTTGTCACATTA
ATGAAAAAATGACCAACTGTGTGGCTAAAGAAACAAGAATTAAAAGTGAAGTAAGCCTCTTGAA
CTAAGCCTTTTATATGTT

hide sequence

RefSeq Acc Id:

XM_047419227 ⟹ XP_047275183

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,668,530 - 70,862,015 (+)	NCBI

RefSeq Acc Id:

XM_047419228 ⟹ XP_047275184

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,668,530 - 70,862,015 (+)	NCBI

RefSeq Acc Id:

XM_047419229 ⟹ XP_047275185

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,732,452 - 70,862,015 (+)	NCBI

RefSeq Acc Id:

XM_047419230 ⟹ XP_047275186

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,667,883 - 70,837,909 (+)	NCBI

RefSeq Acc Id:

XM_054356164 ⟹ XP_054212139

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	71,849,106 - 72,042,553 (+)	NCBI

RefSeq Acc Id:

XM_054356165 ⟹ XP_054212140

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	71,849,106 - 72,042,553 (+)	NCBI

RefSeq Acc Id:

XM_054356166 ⟹ XP_054212141

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	71,928,634 - 72,042,553 (+)	NCBI

RefSeq Acc Id:

XM_054356167 ⟹ XP_054212142

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	71,848,459 - 72,018,446 (+)	NCBI

RefSeq Acc Id:

XM_054356168 ⟹ XP_054212143

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	71,848,459 - 72,018,446 (+)	NCBI

RefSeq Acc Id:

XM_054356169 ⟹ XP_054212144

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	71,848,459 - 72,040,052 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001037770	(Get FASTA)	NCBI Sequence Viewer
	NP_001268368	(Get FASTA)	NCBI Sequence Viewer
	NP_001268369	(Get FASTA)	NCBI Sequence Viewer
	NP_068759	(Get FASTA)	NCBI Sequence Viewer
	XP_005248817	(Get FASTA)	NCBI Sequence Viewer
	XP_011534349	(Get FASTA)	NCBI Sequence Viewer
	XP_047275183	(Get FASTA)	NCBI Sequence Viewer
	XP_047275184	(Get FASTA)	NCBI Sequence Viewer
	XP_047275185	(Get FASTA)	NCBI Sequence Viewer
	XP_047275186	(Get FASTA)	NCBI Sequence Viewer
	XP_054212139	(Get FASTA)	NCBI Sequence Viewer
	XP_054212140	(Get FASTA)	NCBI Sequence Viewer
	XP_054212141	(Get FASTA)	NCBI Sequence Viewer
	XP_054212142	(Get FASTA)	NCBI Sequence Viewer
	XP_054212143	(Get FASTA)	NCBI Sequence Viewer
	XP_054212144	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH08672	(Get FASTA)	NCBI Sequence Viewer
	AAH28074	(Get FASTA)	NCBI Sequence Viewer
	AAH36123	(Get FASTA)	NCBI Sequence Viewer
	AAL14714	(Get FASTA)	NCBI Sequence Viewer
	AAL14715	(Get FASTA)	NCBI Sequence Viewer
	AAL14716	(Get FASTA)	NCBI Sequence Viewer
	AAL14717	(Get FASTA)	NCBI Sequence Viewer
	AAP97320	(Get FASTA)	NCBI Sequence Viewer
	BAB14473	(Get FASTA)	NCBI Sequence Viewer
	BAD96431	(Get FASTA)	NCBI Sequence Viewer
	BAF83137	(Get FASTA)	NCBI Sequence Viewer
	BAG37952	(Get FASTA)	NCBI Sequence Viewer
	BAG64443	(Get FASTA)	NCBI Sequence Viewer
	CAD38762	(Get FASTA)	NCBI Sequence Viewer
	EAW48805	(Get FASTA)	NCBI Sequence Viewer
	EAW48806	(Get FASTA)	NCBI Sequence Viewer
	EAW48807	(Get FASTA)	NCBI Sequence Viewer
	EAW48808	(Get FASTA)	NCBI Sequence Viewer
	EAW48809	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000313382
	ENSP00000313382.5
	ENSP00000359481
	ENSP00000359481.3
	ENSP00000359484
	ENSP00000359484.3
	ENSP00000398306.1
	ENSP00000415426.1
	ENSP00000484538
	ENSP00000484538.1
GenBank Protein	Q8IYB5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001037770 ⟸ NM_001044305
- Peptide Label:	isoform A
- UniProtKB:	Q8IYB5 (UniProtKB/Swiss-Prot), Q96L39 (UniProtKB/Swiss-Prot), Q96L38 (UniProtKB/Swiss-Prot), Q8NDH4 (UniProtKB/Swiss-Prot), Q6PK24 (UniProtKB/Swiss-Prot), Q5SYQ2 (UniProtKB/Swiss-Prot), Q53H70 (UniProtKB/Swiss-Prot), Q9H8X4 (UniProtKB/Swiss-Prot), A8K333 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWASWNIGVFICIRCAGIHRNLG VHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEANLPENFRRPQTDQAVEFFIRDKYEKKKY YDKNAIAITNISSSDAPLQPLVSSPSLQAAVDKNKLEKEKEKKKEEKKREKEPEKPAKPLTAEK LQKKDQQLEPKKSTSPKKAAEPTVDLLGLDGPAVAPVTNGNTTVPPLNDDLDIFGPMISNPLPA TVMPPAQGTPSAPAAATLSTVTSGDLDLFTEQTTKSEEVAKKQLSKDSILSLYGTGTIQQQSTP GVFMGPTNIPFTSQAPAAFQGFPSMGVPVPAAPGLIGNVMGQSPSMMVGMPMPNGFMGNAQTGV MPLPQNVVGPQGGMVGQMGAPQSKFGLPQAQQPQWSLSQMNQQMAGMSISSATPTAGFGQPSST TAGWSGSSSGQTLSTQLWK hide sequence

RefSeq Acc Id:	NP_068759 ⟸ NM_021940
- Peptide Label:	isoform B
- UniProtKB:	B2RDK5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWASWNIGVFICIRCAGIHRNLG VHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEANLPENFRRPQTDQAVEFFIRDKYEKKKY YDKNAIAITNKEKEKKKEEKKREKEPEKPAKPLTAEKLQKKDQQLEPKKSTSPKKAAEPTVDLL GLDGPAVAPVTNGNTTVPPLNDDLDIFGPMISNPLPATVMPPAQGTPSAPAAATLSTVTSGDLD LFTEQTTKSEEVAKKQLSKDSILSLYGTGTIQQQSTPGVFMGPTNIPFTSQAPAAFQGFPSMGV PVPAAPGLIGNVMGQSPSMMVGMPMPNGFMGNAQTGVMPLPQNVVGPQGGMVGQMGAPQSKFGL PQAQQPQWSLSQMNQQMAGMSISSATPTAGFGQPSSTTAGWSGSSSGQTLSTQLWK hide sequence

RefSeq Acc Id:	NP_001268368 ⟸ NM_001281439
- Peptide Label:	isoform C
- UniProtKB:	B2RDK5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWASWNIGVFICIRCAGIHRNLG VHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEANLPENFRRPQTDQAVEFFIRDKYEKKKY YDKNAIAITNKEKEKKKEEKKREKEPEKPAKPLTAEKLQKKDQQLEPKKSTSPKKAAEPTVDLL GLDGPAVAPVTNGNTTVPPLNDDLDIFGPMISNPLPATVMPPAQGTPSAPAAATLSTVTSGDLD LFTEQTTKSEEVAKKQLSKDSILSLYGTGTIQQQSTPGVFMGPTNIPFTSQAPAAFQGFPSMGV PVPAAPGLIGNVMGQSPSMMVGMPMPNGFMGNAQTGVMPLPQNVVGPQGGMVGQMGAPQSKFGL PQAQQPQWSLSQIMQKGDAVLQHSISAIYWPMTRWLKCPLVDESADGWHEYQ hide sequence

RefSeq Acc Id:	NP_001268369 ⟸ NM_001281440
- Peptide Label:	isoform D
- UniProtKB:	A8K333 (UniProtKB/TrEMBL), A0A087X1X9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEPYLPAHLTAFVQGFYLCFLKKSMVVFFGPRWASWNIGVFICIRCAGIHRNLGVHISRVKSVN LDQWTAEQIQCMQDMGNTKARLLYEANLPENFRRPQTDQAVEFFIRDKYEKKKYYDKNAIAITN ISSSDAPLQPLVSSPSLQAAVDKNKLEKEKEKKKEEKKREKEPEKPAKPLTAEKLQKKDQQLEP KKSTSPKKAAEPTVDLLGLDGPAVAPVTNGNTTVPPLNDDLDIFGPMISNPLPATVMPPAQGTP SAPAAATLSTVTSGDLDLFTEQTTKSEEVAKKQLSKDSILSLYGTGTIQQQSTPGVFMGPTNIP FTSQAPAAFQGFPSMGVPVPAAPGLIGNVMGQSPSMMVGMPMPNGFMGNAQTGVMPLPQNVVGP QGGMVGQMGAPQSKFGLPQAQQPQWSLSQMNQQMAGMSISSATPTAGFGQPSSTTAGWSGSSSG QTLSTQLWK hide sequence

RefSeq Acc Id:

XP_005248817 ⟸ XM_005248760

- Peptide Label:

isoform X4

- Sequence:

show sequence

MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWASWNIGVFICIRCAGIHRNLG
VHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEANLPENFRRPQTDQAVEFFIRDKYEKKKY
YDKNAIAITNISSSDAPLQPLVSSPSLQAAVDKNKLEKEKEKKKEEKKREKEPEKPAKPLTAEK
LQKKDQQLEPKKSTSPKKAAEPTVDLLGLVWRKIEKEKSERQLVEVEELTFMYCFPKN

hide sequence

RefSeq Acc Id:	XP_011534349 ⟸ XM_011536047
- Peptide Label:	isoform X6
- UniProtKB:	B2RDK5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWASWNIGVFICIRCAGIHRNLG VHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEANLPENFRRPQTDQAVEFFIRDKYEKKKY YDKNAIAITNKEKEKKKEEKKREKEPEKPAKPLTAEKLQKKDQQLEPKKSTSPKKAAEPTVDLL GLDGPAVAPVTNGNTTVPPLNDDLDIFGPMISNPLPATVMPPAQGTPSAPAAATLSTVTSGDLD LFTEQTTKSEEVAKKQLSKDSILSLYGTGTIQQQSTPGVFMGPTNIPFTSQAPAAFQGFPSMGV PVPAAPGLIGNVMGQSPSMMVGMPMPNGFMGNAQTGVMPLPQNVVGPQGGMVGQMGAPQSKFGL PQAQQPQWSLSQIMQKGDAVLQHSISAIYWPMTRWLKCPLVGMKT hide sequence

Ensembl Acc Id:

ENSP00000359481 ⟸ ENST00000370452

Ensembl Acc Id:

ENSP00000359484 ⟸ ENST00000370455

Ensembl Acc Id:

ENSP00000398306 ⟸ ENST00000439432

Ensembl Acc Id:

ENSP00000415426 ⟸ ENST00000445046

Ensembl Acc Id:

ENSP00000484538 ⟸ ENST00000619054

Ensembl Acc Id:

ENSP00000313382 ⟸ ENST00000316999

RefSeq Acc Id:	XP_047275186 ⟸ XM_047419230
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_047275183 ⟸ XM_047419227
- Peptide Label:	isoform X1
- UniProtKB:	A8K333 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047275184 ⟸ XM_047419228
- Peptide Label:	isoform X2
- UniProtKB:	B2RDK5 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047275185 ⟸ XM_047419229
- Peptide Label:	isoform X3
- UniProtKB:	A8K333 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054212144 ⟸ XM_054356169
- Peptide Label:	isoform X6
- UniProtKB:	B2RDK5 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054212142 ⟸ XM_054356167
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054212143 ⟸ XM_054356168
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054212139 ⟸ XM_054356164
- Peptide Label:	isoform X1
- UniProtKB:	A8K333 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054212140 ⟸ XM_054356165
- Peptide Label:	isoform X2
- UniProtKB:	B2RDK5 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054212141 ⟸ XM_054356166
- Peptide Label:	isoform X3
- UniProtKB:	A8K333 (UniProtKB/TrEMBL)

Protein Domains

Arf-GAP

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IYB5-F1-model_v2	AlphaFold	Q8IYB5	1-467	view protein structure

Promoters

RGD ID:

7208455

Promoter ID:

EPDNEW_H9974

Type:

initiation region

Name:

SMAP1_3

Description:

small ArfGAP 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9975 EPDNEW_H9976 EPDNEW_H9977

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,667,651 - 70,667,711	EPDNEW

RGD ID:

7208457

Promoter ID:

EPDNEW_H9975

Type:

initiation region

Name:

SMAP1_2

Description:

small ArfGAP 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9974 EPDNEW_H9976 EPDNEW_H9977

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,667,776 - 70,667,836	EPDNEW

RGD ID:

7208459

Promoter ID:

EPDNEW_H9976

Type:

initiation region

Name:

SMAP1_1

Description:

small ArfGAP 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9974 EPDNEW_H9975 EPDNEW_H9977

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,667,918 - 70,667,978	EPDNEW

RGD ID:

7208461

Promoter ID:

EPDNEW_H9977

Type:

initiation region

Name:

SMAP1_4

Description:

small ArfGAP 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9974 EPDNEW_H9975 EPDNEW_H9976

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	70,668,584 - 70,668,644	EPDNEW

RGD ID:

6804810

Promoter ID:

HG_KWN:54054

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:

ENST00000370442, NM_021940, OTTHUMT00000041149, UC010KAO.1, UC010KAP.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	71,433,994 - 71,434,494 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19651	AgrOrtholog
COSMIC	SMAP1	COSMIC
Ensembl Genes	ENSG00000112305	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000316999	ENTREZGENE
	ENST00000316999.9	UniProtKB/Swiss-Prot
	ENST00000370452	ENTREZGENE
	ENST00000370452.7	UniProtKB/Swiss-Prot
	ENST00000370455	ENTREZGENE
	ENST00000370455.8	UniProtKB/Swiss-Prot
	ENST00000439432.1	UniProtKB/TrEMBL
	ENST00000445046.1	UniProtKB/TrEMBL
	ENST00000619054	ENTREZGENE
	ENST00000619054.4	UniProtKB/TrEMBL
Gene3D-CATH	1.10.220.150	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000112305	GTEx
HGNC ID	HGNC:19651	ENTREZGENE
Human Proteome Map	SMAP1	Human Proteome Map
InterPro	ARF_GTPase-activating	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ARFGAP/RecO	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ArfGAP_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ArfGAP_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ArfGAP_SMAP1-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:60682	UniProtKB/Swiss-Prot
NCBI Gene	60682	ENTREZGENE
OMIM	611372	OMIM
PANTHER	FI20236P1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	STROMAL MEMBRANE-ASSOCIATED PROTEIN 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	ArfGap	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134893764	PharmGKB
PRINTS	REVINTRACTNG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	ARFGAP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ArfGap	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF57863	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A087X1X9	ENTREZGENE, UniProtKB/TrEMBL
	A8K333	ENTREZGENE, UniProtKB/TrEMBL
	B2RDK5	ENTREZGENE, UniProtKB/TrEMBL
	H0Y5G0_HUMAN	UniProtKB/TrEMBL
	L0R5C9_HUMAN	UniProtKB/TrEMBL
	Q53H70	ENTREZGENE
	Q5SYQ2	ENTREZGENE
	Q5T6I8_HUMAN	UniProtKB/TrEMBL
	Q6PK24	ENTREZGENE
	Q8IYB5	ENTREZGENE
	Q8NDH4	ENTREZGENE
	Q96L38	ENTREZGENE
	Q96L39	ENTREZGENE
	Q9H8X4	ENTREZGENE
	SMAP1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q53H70	UniProtKB/Swiss-Prot
	Q5SYQ2	UniProtKB/Swiss-Prot
	Q6PK24	UniProtKB/Swiss-Prot
	Q8NDH4	UniProtKB/Swiss-Prot
	Q96L38	UniProtKB/Swiss-Prot
	Q96L39	UniProtKB/Swiss-Prot
	Q9H8X4	UniProtKB/Swiss-Prot

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

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Imported Annotations - KEGG (archival)