SNAPIN - SNAP associated protein Gene

中文名称：SNAP 相关蛋白

种属: Homo sapiens

同用名: BLOS7; BORCS3; SNAPAP; BLOC1S7

基因 ID: 23557 | 基因类型: protein coding

关于 SNAPIN

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,658,654-153,661,852 (from NCBI)

This gene has 4 transcripts (splice variants) and 193 orthologues. Ubiquitous expression in fat (RPKM 19.5), heart (RPKM 18.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种卷曲螺旋形成蛋白，与蛋白质的 SNARE (可溶性 N-乙基马来酰亚胺敏感融合蛋白附着蛋白受体) 复合物和 BLOC-1 (溶酶体相关细胞器的生物发生) 复合物相关。生化研究已经确定了额外的结合伙伴。作为 SNARE 复合体的一部分，它是囊泡对接和融合所必需的，并调节神经递质的释放。 BLOC-1 复合物是黑素体和血小板致密颗粒等特殊细胞器生物发生所必需的。已在作为 Hermansky-Pudlak 综合征模型的小鼠品系中鉴定出形成 BLOC-1 复合物的基因产物的突变。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 6 月]

The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

SNAPIN 基因产物(1)

mRNA	Protein	Name
NM_012437.6	NP_036569.1	SNARE-associated protein Snapin

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables SNARE binding	IDA IDA: 通过直接分析推断	10195194	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12809483	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within endosome to lysosome transport	IGI IGI: 通过遗传相互作用推断	22797916	GOA
involved in lysosome localization	IMP IMP: 通过突变表型推断	25898167	GOA
involved in regulation of protein binding	IMP IMP: 通过突变表型推断	23949442	GOA
acts upstream of or within synaptic vesicle exocytosis	IDA IDA: 通过直接分析推断	10195194	GOA
involved in synaptic vesicle transport	IMP IMP: 通过突变表型推断	18167355	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of BLOC-1 complex	IDA IDA: 通过直接分析推断	15102850	GOA
part of BLOC-1 complex	IPI IPI: 通过物理相互作用推断	22203680	GOA
part of BORC complex	IDA IDA: 通过直接分析推断	25898167	GOA
part of BORC complex	IPI IPI: 通过物理相互作用推断	25898167	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	19168546	GOA
located in synapse	IDA IDA: 通过直接分析推断	10195194	GOA
located in synaptic vesicle	IDA IDA: 通过直接分析推断	21102408	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SNAPIN 蛋白结构

Snapin_Pallidin

0
100
136 a.a.

蛋白主名

其他名称

SNARE-associated protein Snapin

BLOC-1 related complex subunit 3

SNAPIN 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SNAPIN	O95295	CCDC102B	Homo sapiens	Q68D86	Validated Y2H	32296183
种属内	SNAPIN	O95295	NECAB2	Homo sapiens	Q7Z6G3-2	Validated Y2H	32296183
种属内	SNAPIN	O95295	BFSP2	Homo sapiens	Q13515	Validated Y2H	32296183
种属内	SNAPIN	O95295	EXOC1	Homo sapiens	Q9NV70	Y2H Fragment Pooling	23414517
种属内	SNAPIN	O95295	TPM2	Homo sapiens	P07951-2	Validated Y2H	32296183
种属内	SNAPIN	O95295	TFIP11	Homo sapiens	Q9UBB9	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	TFIP11	Homo sapiens	Q9UBB9	Validated Y2H	32296183
种属内	SNAPIN	O95295	TFIP11	Homo sapiens	Q9UBB9	Y2H Array	32296183
种属内	SNAPIN	O95295	ABI2	Homo sapiens	Q9NYB9-2	Validated Y2H	32296183
种属内	SNAPIN	O95295	BANP	Homo sapiens	Q8N9N5-2	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT26	Homo sapiens	Q7Z3Y9	Validated Y2H	32296183
种属内	SNAPIN	O95295	BFSP1	Homo sapiens	Q12934-2	Validated Y2H	32296183
种属内	SNAPIN	O95295	IKBIP	Homo sapiens	Q70UQ0-4	Validated Y2H	32296183
种属内	SNAPIN	O95295	RABGEF1	Homo sapiens	Q9UJ41-4	Validated Y2H	32296183
种属内	SNAPIN	O95295	SLC14A2	Homo sapiens	Q15849-1	Anti Tag CoIP	17702749
种属内	SNAPIN	O95295	SLC14A2	Homo sapiens	Q15849-1	Pull Down	17702749
种属内	SNAPIN	O95295	SLC14A2	Homo sapiens	Q15849-1	Y2H	17702749
种属内	SNAPIN	O95295	TPM4	Homo sapiens	P67936	Validated Y2H	32296183
种属内	SNAPIN	O95295	C20orf202	Homo sapiens	A1L168	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	C20orf202	Homo sapiens	A1L168	Y2H Array	32296183
种属内	SNAPIN	O95295	ENTHD1	Homo sapiens	Q8IYW4	Validated Y2H	32296183
种属内	SNAPIN	O95295	KANK2	Homo sapiens	Q63ZY3	Validated Y2H	32296183
种属内	SNAPIN	O95295	PCYT1A	Homo sapiens	P49585	Validated Y2H	32296183
种属内	SNAPIN	O95295	DENND1C	Homo sapiens	Q8IV53	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT24	Homo sapiens	Q2M2I5	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT24	Homo sapiens	Q2M2I5	Y2H Array	32296183
种属内	SNAPIN	O95295	KRT24	Homo sapiens	Q2M2I5	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	KRT24	Homo sapiens	Q2M2I5	MAPPIT	32296183
种属内	SNAPIN	O95295	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
种属内	SNAPIN	O95295	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	TSG101	Homo sapiens	Q99816	Validated Y2H	32296183
种属内	SNAPIN	O95295	BLOC1S1	Homo sapiens	P78537	Validated Y2H	32296183
种属内	SNAPIN	O95295	BLOC1S1	Homo sapiens	P78537	MAPPIT	32296183
种属内	SNAPIN	O95295	BLOC1S1	Homo sapiens	P78537	Y2H	15102850
种属内	SNAPIN	O95295	TPM3	Homo sapiens	P06753	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT16	Homo sapiens	P08779	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT16	Homo sapiens	P08779	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	KRT16	Homo sapiens	P08779	Y2H Array	32296183
种属内	SNAPIN	O95295	PLAC9	Homo sapiens	Q5JTB6	Validated Y2H	32296183
种属内	SNAPIN	O95295	INSYN1	Homo sapiens	Q2T9L4	Y2H Array	32296183
种属内	SNAPIN	O95295	INSYN1	Homo sapiens	Q2T9L4	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	INSYN1	Homo sapiens	Q2T9L4	Validated Y2H	32296183
种属内	SNAPIN	O95295	DTNBP1	Homo sapiens	Q96EV8	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	DTNBP1	Homo sapiens	Q96EV8	Validated Y2H	32296183
种属内	SNAPIN	O95295	DTNBP1	Homo sapiens	Q96EV8	Y2H Array	32296183
种属内	SNAPIN	O95295	BLOC1S2	Homo sapiens	Q6QNY1	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	BLOC1S2	Homo sapiens	Q6QNY1	Validated Y2H	32296183
种属内	SNAPIN	O95295	BLOC1S2	Homo sapiens	Q6QNY1	Y2H Array	32296183
种属内	SNAPIN	O95295	SPTB	Homo sapiens	P11277	Y2H Fragment Pooling	23414517
种属内	SNAPIN	O95295	LRRK2	Homo sapiens	Q5S007	Anti Tag CoIP	23949442
种属内	SNAPIN	O95295	LRRK2	Homo sapiens	Q5S007	Pull Down	23949442
种属内	SNAPIN	O95295	LRRK2	Homo sapiens	Q5S007	Y2H	23949442
种属内	SNAPIN	O95295	FSD2	Homo sapiens	A1L4K1	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	FSD2	Homo sapiens	A1L4K1	Y2H Array	32296183
种属内	SNAPIN	O95295	EXOC7	Homo sapiens	Q9UPT5-1	Validated Y2H	32296183
种属内	SNAPIN	O95295	WASHC3	Homo sapiens	Q9Y3C0	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT15	Homo sapiens	P19012	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT15	Homo sapiens	P19012	Y2H Array	32296183
种属内	SNAPIN	O95295	KRT15	Homo sapiens	P19012	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	CCNH	Homo sapiens	P51946	Validated Y2H	32296183
种属内	SNAPIN	O95295	SKA1	Homo sapiens	Q96BD8	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT20	Homo sapiens	P35900	Validated Y2H	32296183
种属内	SNAPIN	O95295	KRT19	Homo sapiens	P08727	Y2H Prey Pooling	32296183
种属内	SNAPIN	O95295	KRT19	Homo sapiens	P08727	Y2H Array	32296183
种属内	SNAPIN	O95295	KRT19	Homo sapiens	P08727	Validated Y2H	32296183
种属内	SNAPIN	O95295	NME7	Homo sapiens	Q9Y5B8	Validated Y2H	32296183
种属内	SNAPIN	O95295	NUP62CL	Homo sapiens	Q9H1M0	Validated Y2H	32296183
种属内	SNAPIN	O95295	LMNB1	Homo sapiens	P20700	Validated Y2H	32296183
种属间	SNAPIN	O95295	Slc14a2	Rattus norvegicus	Q62668-1	Pull Down	17702749
种属间	SNAPIN	O95295	Slc14a2	Rattus norvegicus	Q62668-1	Anti Bait CoIP	17702749
种属间	SNAPIN	O95295	Slc14a2	Rattus norvegicus	Q62668-1	Confocal	17702749

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Tricuspid Valve Stenosis

Tricuspid Stenosis	Tricuspid Stricture
Tricuspid Valve Stricture	Tricuspid Insufficiency With Obstruction
Tricuspid Insufficiency With Stenosis

Hermansky-Pudlak Syndrome 9

HPS9	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 9
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Ornithosis

Psittacosis	Chlamydial Pneumonia
Chlamydia Psittaci Infection	Chlamydia Psittaci

Storage Pool Platelet Disease

Platelet Storage Pool Deficiency	Storage Pool Disease Of Platelets
Dense Body Defect	Platelet Dense Granule Deficiency
Platelet Storage Pool Defect	Platelet Storage Pool Diseases
Alpha Delta Granule Deficiency	Alpha Dense Granule Deficiency
Combined Alpha-Delta Platelet Storage Pool Deficiency

Developmental And Epileptic Encephalopathy 4

DEE4	Epileptic Encephalopathy, Early Infantile, 4
Eiee4	Early Infantile Epileptic Encephalopathy 4
Stxbp1-Related Early-Onset Encephalopathy	Early Myoclonic Encephalopathy
Developmental And Epileptic Encephalopathy, 4	Stxbp1 Disorders
Stxbp1 Encephalopathy	Developmental And Epileptic Encephalopathy, Type 4
Early-Infantile Epileptic Encephalopathy 4	Stxbp1 Encephalopathy With Epilepsy
Stxbp1 Epileptic Encephalopathy	Stxbp1-Related Developmental And Epileptic Encephalopathy
Stxbp1-Related Epileptic Encephalopathy	Eme
Neonatal Epilepsy With Suppression-Burst Pattern	Encephalopathy, Epileptic, Early Infantile, Type 4

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13481	SNAPIN Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	SNAPIN	RGD	RGD:1560377
Bos taurus	SNAPIN	VGNC	VGNC:35058
Canis familiaris	SNAPIN	VGNC	VGNC:46595
Mus musculus	SNAPIN	MGD	MGI:1333745
Felis catus	SNAPIN	VGNC	VGNC:65524
Macaca mulatta	SNAPIN	VGNC	VGNC:106498

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