STXBP3 (syntaxin binding protein 3)

Gene: STXBP3 (syntaxin binding protein 3) Homo sapiens

Analyze

Symbol:

STXBP3

Name:

syntaxin binding protein 3

RGD ID:

732509

HGNC Page

HGNC:11446

Description:

Enables syntaxin binding activity. Involved in negative regulation of calcium ion-dependent exocytosis; neutrophil degranulation; and platelet aggregation. Located in cytosol; plasma membrane; and secretory granule. Is active in presynapse.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

MUNC18-3; MUNC18C; platelet Sec1 protein; protein unc-18 homolog 3; protein unc-18 homolog C; PSP; syntaxin 4 binding protein; syntaxin-binding protein 3; UNC-18C; unc18-3

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):	Stxbp3 (syntaxin binding protein 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Stxbp3 (syntaxin binding protein 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Stxbp3 (syntaxin binding protein 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	STXBP3 (syntaxin binding protein 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	STXBP3 (syntaxin binding protein 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Stxbp3 (syntaxin binding protein 3)	NCBI	Ortholog
Sus scrofa (pig):	STXBP3 (syntaxin binding protein 3)	HGNC	NCBI
Chlorocebus sabaeus (green monkey):	STXBP3 (syntaxin binding protein 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Stxbp3 (syntaxin binding protein 3)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Stxbp3 (syntaxin binding protein 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Stxbp3 (syntaxin binding protein 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	stxbp3 (syntaxin binding protein 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	T07A9.10	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Saccharomyces cerevisiae (baker's yeast):	SEC1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	stxbp3.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	stxbp3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	stxbp3.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	1	108,746,674 - 108,809,523 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	108,746,674 - 108,809,523 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	109,289,296 - 109,352,145 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	109,090,808 - 109,153,671 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	109,001,349 - 109,064,190	NCBI
Celera	1	107,559,095 - 107,621,723 (+)	NCBI		Celera
Cytogenetic Map	1	p13.3	NCBI
HuRef	1	107,182,124 - 107,244,974 (+)	NCBI		HuRef
CHM1_1	1	109,404,138 - 109,467,158 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	108,779,918 - 108,842,849 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

hereditary spastic paraplegia 63 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

(S)-nicotine (EXP)

1,2,4-trimethylbenzene (ISO)

1,2-dimethylhydrazine (ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

3,3',4,4',5-pentachlorobiphenyl (ISO)

3,3',5,5'-tetrabromobisphenol A (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

amitrole (ISO)

ammonium chloride (ISO)

aristolochic acid A (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP)

cadmium dichloride (ISO)

carbon nanotube (EXP,ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

decabromodiphenyl ether (EXP)

dicrotophos (EXP)

ethyl methanesulfonate (EXP)

finasteride (ISO)

folic acid (ISO)

formaldehyde (EXP)

glafenine (ISO)

ivermectin (EXP)

methimazole (ISO)

methyl methanesulfonate (EXP)

mono(2-ethylhexyl) phthalate (ISO)

nicotine (EXP)

paracetamol (EXP,ISO)

paraquat (ISO)

perfluorooctane-1-sulfonic acid (EXP)

pirinixic acid (ISO)

potassium chromate (EXP)

pregnenolone 16alpha-carbonitrile (ISO)

propiconazole (ISO)

serotonin (EXP)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

brain development (IEA,ISO)

cellular response to type II interferon (IEA,ISO)

exocytosis (IEA,ISO)

insulin secretion (IEA,ISO)

intracellular glucose homeostasis (IEA,ISO)

intracellular protein transport (IBA)

negative regulation of calcium ion-dependent exocytosis (IMP)

negative regulation of glucose import (IEA,ISO)

neurotransmitter secretion (IBA)

neutrophil degranulation (IEP)

platelet aggregation (IMP)

protein to membrane docking (IEA,ISO)

protein transport (IEA)

response to insulin (IEA,ISO)

vesicle docking involved in exocytosis (IBA)

vesicle-mediated transport (IBA,IEA)

Cellular Component

apical plasma membrane (IEA,ISO)

basolateral plasma membrane (IEA,ISO)

cytoplasm (IEA)

cytosol (IDA,IEA,TAS)

extracellular exosome (HDA)

phagocytic vesicle (IEA)

plasma membrane (IBA,IDA,IEA)

platelet alpha granule (IDA)

presynapse (IEA)

secretory granule (IBA)

specific granule (IDA)

tertiary granule (IDA)

Molecular Function

protein binding (IPI)

protein-containing complex binding (IEA,ISO)

syntaxin binding (IEA,IPI,ISO)

syntaxin-1 binding (IBA,IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

insulin responsive facilitative sugar transporter mediated glucose transport pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	The GLUT4 code.	Larance M, etal., Mol Endocrinol. 2008 Feb;22(2):226-33. Epub 2007 Aug 23.
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:8824310	PMID:10194441	PMID:12065586	PMID:12477932	PMID:12649283	PMID:12773094	PMID:12832401	PMID:15146197	PMID:15489334	PMID:15576373	PMID:15707389
PMID:18029348	PMID:18588921	PMID:19061073	PMID:19738201	PMID:20416077	PMID:20458337	PMID:21444687	PMID:21873635	PMID:21897333	PMID:21988832	PMID:22390153	PMID:22939629
PMID:23246001	PMID:23700440	PMID:25190515	PMID:25659891	PMID:25921289	PMID:26186194	PMID:26673895	PMID:26972000	PMID:27342126	PMID:27662481	PMID:27880917	PMID:28294518
PMID:28514442	PMID:28718761	PMID:28798239	PMID:29284677	PMID:29360461	PMID:30021884	PMID:30194290	PMID:30575818	PMID:30639242	PMID:30745168	PMID:30948266	PMID:31073040
PMID:31091453	PMID:31280863	PMID:31678930	PMID:31871319	PMID:31995728	PMID:32176739	PMID:32597834	PMID:32628020	PMID:32913203	PMID:33060197	PMID:33845483	PMID:33891011
PMID:33957083	PMID:33961781	PMID:34079125	PMID:34349018	PMID:34672954	PMID:34709727	PMID:35032548	PMID:35271311	PMID:35337019	PMID:35973513	PMID:36215168	PMID:36610398
PMID:36634849	PMID:37827155	PMID:38117590

Genomics

Comparative Map Data

STXBP3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	108,746,674 - 108,809,523 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	108,746,674 - 108,809,523 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	109,289,296 - 109,352,145 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	109,090,808 - 109,153,671 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	109,001,349 - 109,064,190	NCBI
Celera	1	107,559,095 - 107,621,723 (+)	NCBI		Celera
Cytogenetic Map	1	p13.3	NCBI
HuRef	1	107,182,124 - 107,244,974 (+)	NCBI		HuRef
CHM1_1	1	109,404,138 - 109,467,158 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	108,779,918 - 108,842,849 (+)	NCBI		T2T-CHM13v2.0

Stxbp3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	108,700,496 - 108,747,818 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	108,700,492 - 108,747,842 (-)	Ensembl		GRCm39 Ensembl
GRCm38	3	108,793,180 - 108,840,502 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	108,793,176 - 108,840,526 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	108,596,098 - 108,643,420 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	108,921,236 - 108,968,558 (-)	NCBI		MGSCv36	mm8
Celera	3	111,127,992 - 111,175,108 (-)	NCBI		Celera
Cytogenetic Map	3	F3	NCBI
cM Map	3	47.73	NCBI

Stxbp3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	199,130,725 - 199,173,823 (-)	NCBI		GRCr8
mRatBN7.2	2	196,442,738 - 196,485,733 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	196,442,634 - 196,485,671 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	204,085,606 - 204,128,460 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	201,966,954 - 202,010,235 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	196,783,945 - 196,827,225 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	211,595,763 - 211,638,756 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	211,595,659 - 211,638,788 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	231,068,919 - 231,112,841 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	204,395,554 - 204,439,388 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	204,358,307 - 204,402,142 (-)	NCBI
Celera	2	189,090,353 - 189,133,227 (-)	NCBI		Celera
Cytogenetic Map	2	q34	NCBI

Stxbp3
(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_004955435	12,215,665 - 12,274,465 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955435	12,215,665 - 12,270,769 (+)	NCBI	ChiLan1.0	ChiLan1.0

STXBP3
(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	118,495,525 - 118,560,702 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	117,655,304 - 117,720,595 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	111,120,487 - 111,185,669 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	110,287,271 - 110,352,320 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	110,287,374 - 110,351,616 (+)	Ensembl	panpan1.1		panPan2

STXBP3
(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	42,947,639 - 42,998,297 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	42,948,236 - 43,053,027 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	45,723,386 - 45,773,622 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	43,280,678 - 43,330,935 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	43,280,685 - 43,330,885 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	43,011,121 - 43,061,299 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	42,969,658 - 43,019,743 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	43,411,222 - 43,461,487 (-)	NCBI		UU_Cfam_GSD_1.0

Stxbp3
(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_024405058	19,717,230 - 19,783,958 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936704	330,078 - 397,059 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936704	330,195 - 396,913 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

STXBP3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	111,233,991 - 111,293,964 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	111,234,154 - 111,294,067 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	121,730,686 - 121,791,536 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

STXBP3
(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	20	24,779,510 - 24,840,668 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	24,779,271 - 24,840,643 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	33,507,818 - 33,568,946 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Stxbp3
(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_004624772	4,540,450 - 4,589,896 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624772	4,540,518 - 4,589,562 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in STXBP3
20 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	copy number loss	See cases [RCV000053879]	Chr1:101618097..111703028 [GRCh38] Chr1:102083653..112245650 [GRCh37] Chr1:101856241..112047173 [NCBI36] Chr1:1p21.2-13.2	pathogenic
GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	copy number loss	See cases [RCV000053881]	Chr1:106074587..110144290 [GRCh38] Chr1:106617209..110686912 [GRCh37] Chr1:106418732..110488435 [NCBI36] Chr1:1p21.1-13.3	pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	copy number loss	See cases [RCV000053877]	Chr1:97410602..110670510 [GRCh38] Chr1:97876158..111213132 [GRCh37] Chr1:97648746..111014655 [NCBI36] Chr1:1p21.3-13.3	pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	copy number loss	See cases [RCV000135333]	Chr1:97272349..108893138 [GRCh38] Chr1:97737905..109435760 [GRCh37] Chr1:97510493..109237283 [NCBI36] Chr1:1p21.3-13.3	pathogenic
GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3	copy number gain	See cases [RCV000136126]	Chr1:108807502..109134584 [GRCh38] Chr1:109350124..109677206 [GRCh37] Chr1:109151647..109478729 [NCBI36] Chr1:1p13.3	uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	copy number gain	See cases [RCV000142953]	Chr1:104325484..119977655 [GRCh38] Chr1:104868106..120471049 [GRCh37] Chr1:104669629..120321801 [NCBI36] Chr1:1p21.1-12	pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	copy number loss	See cases [RCV000142760]	Chr1:105468292..112190626 [GRCh38] Chr1:106010914..112733248 [GRCh37] Chr1:105812437..112534771 [NCBI36] Chr1:1p21.1-13.2	pathogenic
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 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3	copy number gain	See cases [RCV000510931]	Chr1:109343840..109868178 [GRCh37] Chr1:1p13.3	uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	copy number gain	See cases [RCV000512354]	Chr1:93837992..121343783 [GRCh37] Chr1:1p22.1-11.2	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
NC_000001.11:g.(?_103175204)_(111410059_?)del	deletion	Autism [RCV000754122]	Chr1:103175204..111410059 [GRCh38] Chr1:1p21.1-13.2	likely pathogenic
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3	copy number gain	not provided [RCV000749068]	Chr1:94054724..111671707 [GRCh37] Chr1:1p22.1-13.3	pathogenic
Single allele	deletion	1p13.3 deletion syndrome [RCV000786772]	Chr1:107779092..111199205 [GRCh37] Chr1:1p13.3	likely pathogenic
Single allele	deletion	not provided [RCV000844956]	Chr1:108926313..111266497 [GRCh37] Chr1:1p13.3	not provided
NC_000001.10:g.(?_108679275)_(111674176_?)del	deletion	Hereditary spastic paraplegia 63 [RCV003105726]	Chr1:108679275..111674176 [GRCh37] Chr1:1p13.3	pathogenic
NM_007269.4(STXBP3):c.540G>T (p.Gln180His)	single nucleotide variant	not specified [RCV004317347]	Chr1:108772766 [GRCh38] Chr1:109315388 [GRCh37] Chr1:1p13.3	uncertain significance
GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	copy number gain	not provided [RCV002473471]	Chr1:109350810..109838970 [GRCh37] Chr1:1p13.3	uncertain significance
GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3	copy number gain	not provided [RCV001258447]	Chr1:108769288..109425488 [GRCh37] Chr1:1p13.3	uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	copy number loss	Seizure [RCV001352640]	Chr1:102021465..119737478 [GRCh37] Chr1:1p21.2-12	pathogenic
NM_007269.4(STXBP3):c.535G>A (p.Asp179Asn)	single nucleotide variant	not specified [RCV001733643]	Chr1:108772761 [GRCh38] Chr1:109315383 [GRCh37] Chr1:1p13.3	likely benign
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	copy number loss	not specified [RCV002053503]	Chr1:95046805..114714931 [GRCh37] Chr1:1p21.3-13.2	pathogenic
GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	copy number loss	not provided [RCV001827629]	Chr1:108346477..110177123 [GRCh37] Chr1:1p13.3	uncertain significance
NC_000001.10:g.(?_108679275)_(109493059_?)del	deletion	not provided [RCV003122418]	Chr1:108679275..109493059 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.821A>G (p.Asp274Gly)	single nucleotide variant	not specified [RCV004326744]	Chr1:108782433 [GRCh38] Chr1:109325055 [GRCh37] Chr1:1p13.3	uncertain significance
GRCh37/hg19 1p13.3(chr1:109345620-109404928)x1	copy number loss	not provided [RCV002473639]	Chr1:109345620..109404928 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1029+2T>G	single nucleotide variant	not provided [RCV002511588]	Chr1:108793649 [GRCh38] Chr1:109336271 [GRCh37] Chr1:1p13.3	likely pathogenic
NM_007269.4(STXBP3):c.388A>G (p.Ile130Val)	single nucleotide variant	not specified [RCV004217290]	Chr1:108760035 [GRCh38] Chr1:109302657 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1306A>G (p.Ser436Gly)	single nucleotide variant	not specified [RCV004125228]	Chr1:108796676 [GRCh38] Chr1:109339298 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.572A>G (p.Asn191Ser)	single nucleotide variant	not specified [RCV004214474]	Chr1:108772798 [GRCh38] Chr1:109315420 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1070A>C (p.Lys357Thr)	single nucleotide variant	not specified [RCV004115081]	Chr1:108794867 [GRCh38] Chr1:109337489 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.428A>G (p.His143Arg)	single nucleotide variant	not specified [RCV004217564]	Chr1:108760075 [GRCh38] Chr1:109302697 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.698C>T (p.Ser233Leu)	single nucleotide variant	not specified [RCV004320290]	Chr1:108779299 [GRCh38] Chr1:109321921 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1029+1G>A	single nucleotide variant	See cases [RCV003313820]	Chr1:108793648 [GRCh38] Chr1:109336270 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1075A>C (p.Lys359Gln)	single nucleotide variant	not specified [RCV004271196]	Chr1:108794872 [GRCh38] Chr1:109337494 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1156T>A (p.Ser386Thr)	single nucleotide variant	not specified [RCV004277300]	Chr1:108796279 [GRCh38] Chr1:109338901 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1579A>C (p.Asn527His)	single nucleotide variant	not specified [RCV004334450]	Chr1:108807444 [GRCh38] Chr1:109350066 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1406T>G (p.Phe469Cys)	single nucleotide variant	not specified [RCV004361330]	Chr1:108798194 [GRCh38] Chr1:109340816 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.913C>T (p.Pro305Ser)	single nucleotide variant	not specified [RCV004339525]	Chr1:108782656 [GRCh38] Chr1:109325278 [GRCh37] Chr1:1p13.3	uncertain significance
GRCh37/hg19 1p13.3(chr1:109069332-109366802)x3	copy number gain	not provided [RCV003484026]	Chr1:109069332..109366802 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1709A>G (p.Lys570Arg)	single nucleotide variant	not provided [RCV003557040]	Chr1:108808807 [GRCh38] Chr1:109351429 [GRCh37] Chr1:1p13.3	uncertain significance
GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	copy number gain	not specified [RCV003986828]	Chr1:109255293..109812358 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.622G>A (p.Ala208Thr)	single nucleotide variant	not provided [RCV003991867]	Chr1:108776361 [GRCh38] Chr1:109318983 [GRCh37] Chr1:1p13.3	likely pathogenic
NM_007269.4(STXBP3):c.1009T>G (p.Phe337Val)	single nucleotide variant	not specified [RCV004458659]	Chr1:108793627 [GRCh38] Chr1:109336249 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1580A>G (p.Asn527Ser)	single nucleotide variant	not specified [RCV004458663]	Chr1:108807445 [GRCh38] Chr1:109350067 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1013G>A (p.Arg338Gln)	single nucleotide variant	not specified [RCV004458660]	Chr1:108793631 [GRCh38] Chr1:109336253 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.1420T>G (p.Trp474Gly)	single nucleotide variant	not specified [RCV004458662]	Chr1:108798208 [GRCh38] Chr1:109340830 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.305A>G (p.Lys102Arg)	single nucleotide variant	not specified [RCV004458664]	Chr1:108758556 [GRCh38] Chr1:109301178 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.443A>T (p.Tyr148Phe)	single nucleotide variant	not specified [RCV004458665]	Chr1:108772669 [GRCh38] Chr1:109315291 [GRCh37] Chr1:1p13.3	uncertain significance
NM_007269.4(STXBP3):c.608A>G (p.Asn203Ser)	single nucleotide variant	not specified [RCV004458666]	Chr1:108776347 [GRCh38] Chr1:109318969 [GRCh37] Chr1:1p13.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	581
Count of miRNA genes:	439
Interacting mature miRNAs:	482
Transcripts:	ENST00000370008, ENST00000469338, ENST00000472099, ENST00000483586, ENST00000485167, ENST00000486601, ENST00000495245
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

SHGC-79358

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	109,324,875 - 109,325,147	UniSTS	GRCh37
Build 36	1	109,126,398 - 109,126,670	RGD	NCBI36
Celera	1	107,594,450 - 107,594,722	RGD
Cytogenetic Map	1	p13.3	UniSTS
HuRef	1	107,217,687 - 107,217,959	UniSTS

STXBP3__1208

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	109,351,488 - 109,352,244	UniSTS	GRCh37
Build 36	1	109,153,011 - 109,153,767	RGD	NCBI36
Celera	1	107,621,063 - 107,621,819	RGD
HuRef	1	107,244,314 - 107,245,070	UniSTS

SHGC-75260

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	109,351,934 - 109,352,056	UniSTS	GRCh37
Build 36	1	109,153,457 - 109,153,579	RGD	NCBI36
Celera	1	107,621,509 - 107,621,631	RGD
Cytogenetic Map	1	p13.3	UniSTS
HuRef	1	107,244,760 - 107,244,882	UniSTS
TNG Radiation Hybrid Map	2	25444.0	UniSTS
GeneMap99-GB4 RH Map	1	336.44	UniSTS
NCBI RH Map	1	832.4	UniSTS

HIAT1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	109,338,862 - 109,339,341	UniSTS	GRCh37
Celera	1	107,608,437 - 107,608,916	UniSTS
HuRef	1	107,231,687 - 107,232,166	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2311

1916

1398

331

1613

177

3704

1137

3101

349

1409

1601

170

1177

2146

Low

128

1075

328

293

338

288

653

1060

633

642

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_007269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF032922	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312910	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL449266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL591719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC038099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC047764	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN409056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D63506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC323482	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000370008 ⟹ ENSP00000359025

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	108,746,674 - 108,809,523 (+)	Ensembl

RefSeq Acc Id:

ENST00000469338

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	108,746,682 - 108,753,201 (+)	Ensembl

RefSeq Acc Id:

ENST00000472099

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	108,796,235 - 108,807,481 (+)	Ensembl

RefSeq Acc Id:

ENST00000483586

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	108,746,674 - 108,757,005 (+)	Ensembl

RefSeq Acc Id:

ENST00000485167

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	108,760,053 - 108,781,542 (+)	Ensembl

RefSeq Acc Id:

ENST00000486601

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	108,759,057 - 108,776,423 (+)	Ensembl

RefSeq Acc Id:

ENST00000495245

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	108,781,861 - 108,793,631 (+)	Ensembl

RefSeq Acc Id:

NM_007269 ⟹ NP_009200

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	108,746,674 - 108,809,523 (+)	NCBI
GRCh37	1	109,289,285 - 109,352,148 (+)	RGD
Build 36	1	109,090,808 - 109,153,671 (+)	NCBI Archive
Celera	1	107,559,095 - 107,621,723 (+)	RGD
HuRef	1	107,182,124 - 107,244,974 (+)	RGD
CHM1_1	1	109,404,138 - 109,467,158 (+)	NCBI
T2T-CHM13v2.0	1	108,779,918 - 108,842,849 (+)	NCBI

Sequence:

show sequence

GCTTCTGCGGCCAAAGTAGGTTGGGAGTGGAAGGTGGTGGCTGCTGCTCCGCAGTGTCGGGAAG
ATGGCGCCGCCGGTGGCAGAGAGGGGGCTAAAGAGCGTCGTGTGGCAGAAGATAAAAGCAACAG
TGTTTGATGACTGCAAGAAAGAAGGCGAATGGAAGATAATGCTTTTAGATGAATTTACCACTAA
GCTTTTGGCATCGTGTTGCAAAATGACAGATCTTCTAGAAGAAGGTATTACTGTTGTAGAGAAT
ATTTATAAGAACCGTGAACCTGTCAGACAAATGAAAGCTCTTTATTTCATCACTCCGACATCAA
AGTCTGTAGATTGTTTCTTACATGATTTTGCAAGTAAATCGGAGAACAAGTATAAAGCAGCATA
TATTTACTTCACTGACTTTTGCCCTGATAATCTCTTTAACAAAATTAAGGCTTCTTGCTCCAAG
TCAATAAGAAGATGTAAAGAAATAAATATTTCCTTCATTCCACATGAATCTCAGGTGTATACTC
TTGATGTACCAGATGCATTCTATTACTGTTATAGTCCAGACCCTGGTAATGCAAAGGGAAAAGA
TGCCATTATGGAAACAATGGCTGACCAGATAGTTACAGTGTGTGCCACCTTGGATGAAAATCCC
GGAGTAAGATATAAAAGTAAACCTCTAGATAATGCCAGTAAGCTTGCACAGCTTGTTGAAAAAA
AGCTTGAAGACTACTACAAGATTGATGAAAAGAGCCTAATAAAGGGTAAAACTCATTCACAGCT
CTTAATAATTGATCGTGGCTTTGATCCTGTGTCCACTGTCCTGCATGAACTGACCTTTCAGGCA
ATGGCATATGATCTACTACCAATTGAGAATGATACATACAAATATAAAACAGATGGAAAAGAAA
AGGAGGCCATCCTTGAAGAAGAAGATGACCTCTGGGTTAGAATTCGACATCGACATATTGCGGT
TGTGTTAGAGGAAATTCCCAAGCTTATGAAAGAAATTTCATCAACAAAGAAAGCAACAGAAGGA
AAGACATCACTTAGTGCTCTTACCCAGCTGATGAAAAAGATGCCCCATTTCCGAAAACAGATTA
CTAAGCAAGTTGTCCATCTTAACTTAGCAGAAGATTGCATGAATAAGTTCAAGCTTAATATAGA
AAAGCTCTGCAAAACTGAACAGGACCTGGCACTTGGAACTGATGCAGAAGGACAGAAGGTGAAA
GATTCCATGCGAGTACTCCTTCCAGTTCTACTCAACAAAAATCATGATAATTGTGATAAAATAA
GAGCAATTCTACTTTATATCTTCAGTATTAATGGAACTACGGAAGAAAATTTGGACAGGTTGAT
CCAGAATGTAAAGATAGAAAATGAGAGTGACATGATTCGTAACTGGAGTTACCTTGGTGTTCCC
ATTGTTCCCCAATCTCAACAAGGCAAACCGTTAAGAAAGGATCGGTCTGCAGAAGAAACTTTTC
AGCTCTCTCGGTGGACACCTTTTATCAAAGATATTATGGAGGATGCTATTGATAATAGATTAGA
TTCAAAAGAATGGCCATATTGTTCCCAGTGTCCAGCAGTATGGAATGGTTCAGGAGCTGTAAGT
GCTCGCCAGAAACCCAGAGCTAATTATTTAGAAGACCGAAAAAATGGGTCAAAGCTGATTGTTT
TTGTAATTGGAGGGATCACATACTCTGAAGTGCGTTGTGCTTATGAAGTTTCTCAGGCACATAA
ATCCTGTGAAGTTATTATTGGTTCTACACATGTTTTAACACCCAAAAAGCTGTTGGATGATATA
AAGATGCTGAATAAACCCAAGGATAAAGTCTCCTTAATTAAAGATGAATAGCATTTCTTTTTGG
AGGGTTTAGAGATTCTTACTAATATGTTGAACTAAAATAGAAAGAAAATGTTGCTGTCATGTAA
TTTAAACAATGTAAATATTTTATGGAATAATGGCTTTTCAAATACATTTCTTAAGGAACTGTTT
ATGATTATTACTGGATTTGTCATTTTTGATAATTTAAATATTGCTGCTGCTTTGTAGATGATGA
GAAGAAATGTTAAAGTGCTTTCTAAAAGGAAATTTTTTCACCTTTGGAGGAGAATATATTAGAG
TTGTGGGTAATTTTTCACAGCCACCTATGTACATACTAATTACCCATTGGATACTTATATCTAA
AAGTCTCATGCTGAAGTATAGTTTTTGGGAAAGAATGATTTTAAATAAAGAGATTGTAAAAGTA
AAAAACTGTAAATGTATATGTATGATAGAATTGTTTCCTCTAAGTGTAGTTTTTCTTTCAACTA
AAATTCAGTTTATGTGTAAAATAATTCAGTCATTAATAGAAATGGAGTGATTTCACAGTGTGTA
CTGTTTTGCCACATACTTCTAAAGAACACAATTTTATATAATTTTGAAATCATGTATGTTTAAA
TTAGAAAACCAAAAATCATGAACATTCTAAGAGAAAATAAATATAGAATTTAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_009200	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC69606	(Get FASTA)	NCBI Sequence Viewer
	AAH38099	(Get FASTA)	NCBI Sequence Viewer
	AAH47764	(Get FASTA)	NCBI Sequence Viewer
	BAA19482	(Get FASTA)	NCBI Sequence Viewer
	BAD96890	(Get FASTA)	NCBI Sequence Viewer
	BAF82823	(Get FASTA)	NCBI Sequence Viewer
	BAF84011	(Get FASTA)	NCBI Sequence Viewer
	BAG35756	(Get FASTA)	NCBI Sequence Viewer
	EAW56330	(Get FASTA)	NCBI Sequence Viewer
	EAW56331	(Get FASTA)	NCBI Sequence Viewer
	EAW56332	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000359025
	ENSP00000359025.3
GenBank Protein	O00186	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_009200 ⟸ NM_007269

- UniProtKB:

Q86YJ3 (UniProtKB/Swiss-Prot), Q53FW1 (UniProtKB/Swiss-Prot), A8K5K7 (UniProtKB/Swiss-Prot), A8K269 (UniProtKB/Swiss-Prot), Q9UPD7 (UniProtKB/Swiss-Prot), O00186 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAPPVAERGLKSVVWQKIKATVFDDCKKEGEWKIMLLDEFTTKLLASCCKMTDLLEEGITVVEN
IYKNREPVRQMKALYFITPTSKSVDCFLHDFASKSENKYKAAYIYFTDFCPDNLFNKIKASCSK
SIRRCKEINISFIPHESQVYTLDVPDAFYYCYSPDPGNAKGKDAIMETMADQIVTVCATLDENP
GVRYKSKPLDNASKLAQLVEKKLEDYYKIDEKSLIKGKTHSQLLIIDRGFDPVSTVLHELTFQA
MAYDLLPIENDTYKYKTDGKEKEAILEEEDDLWVRIRHRHIAVVLEEIPKLMKEISSTKKATEG
KTSLSALTQLMKKMPHFRKQITKQVVHLNLAEDCMNKFKLNIEKLCKTEQDLALGTDAEGQKVK
DSMRVLLPVLLNKNHDNCDKIRAILLYIFSINGTTEENLDRLIQNVKIENESDMIRNWSYLGVP
IVPQSQQGKPLRKDRSAEETFQLSRWTPFIKDIMEDAIDNRLDSKEWPYCSQCPAVWNGSGAVS
ARQKPRANYLEDRKNGSKLIVFVIGGITYSEVRCAYEVSQAHKSCEVIIGSTHVLTPKKLLDDI
KMLNKPKDKVSLIKDE

hide sequence

RefSeq Acc Id:

ENSP00000359025 ⟸ ENST00000370008

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O00186-F1-model_v2	AlphaFold	O00186	1-592	view protein structure

Promoters

RGD ID:

6856450

Promoter ID:

EPDNEW_H1390

Type:

initiation region

Name:

STXBP3_1

Description:

syntaxin binding protein 3

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	108,746,674 - 108,746,734	EPDNEW

RGD ID:

6786964

Promoter ID:

HG_KWN:3938

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:

NM_007269, OTTHUMT00000030917, OTTHUMT00000317167, UC001DVZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	109,090,664 - 109,091,164 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11446	AgrOrtholog
COSMIC	STXBP3	COSMIC
Ensembl Genes	ENSG00000116266	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000370008	ENTREZGENE
	ENST00000370008.4	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.60	UniProtKB/Swiss-Prot
	3.40.50.1910	UniProtKB/Swiss-Prot
	3.40.50.2060	UniProtKB/Swiss-Prot
GTEx	ENSG00000116266	GTEx
HGNC ID	HGNC:11446	ENTREZGENE
Human Proteome Map	STXBP3	Human Proteome Map
InterPro	Sec-1-like_dom1	UniProtKB/Swiss-Prot
	Sec-1-like_dom2	UniProtKB/Swiss-Prot
	Sec-1-like_dom3a	UniProtKB/Swiss-Prot
	Sec1-like	UniProtKB/Swiss-Prot
	Sec1-like_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:6814	UniProtKB/Swiss-Prot
NCBI Gene	6814	ENTREZGENE
OMIM	608339	OMIM
PANTHER	PTHR11679	UniProtKB/Swiss-Prot
	SYNTAXIN-BINDING PROTEIN 3	UniProtKB/Swiss-Prot
Pfam	Sec1	UniProtKB/Swiss-Prot
PharmGKB	PA36243	PharmGKB
PIRSF	VPS45_Sec1	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF56815	UniProtKB/Swiss-Prot
UniProt	A8K269	ENTREZGENE
	A8K5K7	ENTREZGENE
	O00186	ENTREZGENE
	Q53FW1	ENTREZGENE
	Q86YJ3	ENTREZGENE
	Q9UPD7	ENTREZGENE
	STXB3_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8K269	UniProtKB/Swiss-Prot
	A8K5K7	UniProtKB/Swiss-Prot
	Q53FW1	UniProtKB/Swiss-Prot
	Q86YJ3	UniProtKB/Swiss-Prot
	Q9UPD7	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)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Human Phenotype Annotations - ClinVar