1. Gene
  2. SNAP91 - synaptosome associated protein 91 Gene

SNAP91 - synaptosome associated protein 91 Gene

中文名称:突触体相关蛋白 91

种属: Homo sapiens

同用名: CALM; AP180

基因 ID: 9892 | 基因类型: protein coding

关于 SNAP91

Cytogenetic location: 6q14.2 Genomic coordinates (GRCh38): 6:83,552,885-83,709,393 (from NCBI)

This gene has 22 transcripts (splice variants), 265 orthologues and 1 paralogue. Biased expression in brain (RPKM 42.7), testis (RPKM 6.2) and 1 other tissue.

功能概要

预计将启用多项功能,包括 SNARE 绑定活动;网格蛋白结合活性;和磷脂酰肌醇结合活性。在网格蛋白依赖性内吞作用的调节上游或调节内起作用。预测位于多个细胞成分中,包括突触后密度;突触前内体;和突触前膜。预测为内体膜的外在成分。预计在几种细胞成分中具有活性,包括 Schaffer 侧支 - CA1 突触;细胞质囊泡;和浦肯野细胞突触的平行纤维。预测为突触前内吞区膜的外在成分。阿尔茨海默病的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable several functions, including SNARE binding activity; clathrin binding activity; and phosphatidylinositol binding activity. Acts upstream of or within regulation of clathrin-dependent endocytosis. Predicted to be located in several cellular components, including postsynaptic density; presynaptic endosome; and presynaptic membrane. Predicted to be extrinsic component of endosome membrane. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; cytoplasmic vesicle; and parallel fiber to Purkinje cell synapse. Predicted to be extrinsic component of presynaptic endocytic zone membrane. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]

SNAP91 基因产物(68)

mRNA Protein Name
NM_001242792.2 NP_001229721.1 clathrin coat assembly protein AP180 isoform a
NM_001242793.2 NP_001229722.1 clathrin coat assembly protein AP180 isoform b
NM_001242794.2 NP_001229723.1 clathrin coat assembly protein AP180 isoform c
NM_001256717.2 NP_001243646.1 clathrin coat assembly protein AP180 isoform d
NM_001256718.2 NP_001243647.1 clathrin coat assembly protein AP180 isoform e
NM_001363677.2 NP_001350606.1 clathrin coat assembly protein AP180 isoform f
NM_001376675.1 NP_001363604.1 clathrin coat assembly protein AP180 isoform g
NM_001376676.1 NP_001363605.1 clathrin coat assembly protein AP180 isoform g
NM_001376677.1 NP_001363606.1 clathrin coat assembly protein AP180 isoform g
NM_001376678.1 NP_001363607.1 clathrin coat assembly protein AP180 isoform g
NM_001376679.1 NP_001363608.1 clathrin coat assembly protein AP180 isoform g
NM_001376680.1 NP_001363609.1 clathrin coat assembly protein AP180 isoform g
NM_001376681.1 NP_001363610.1 clathrin coat assembly protein AP180 isoform g
NM_001376682.1 NP_001363611.1 clathrin coat assembly protein AP180 isoform g
NM_001376683.1 NP_001363612.1 clathrin coat assembly protein AP180 isoform h
NM_001376684.1 NP_001363613.1 clathrin coat assembly protein AP180 isoform h
NM_001376685.1 NP_001363614.1 clathrin coat assembly protein AP180 isoform i
NM_001376686.1 NP_001363615.1 clathrin coat assembly protein AP180 isoform i
NM_001376687.1 NP_001363616.1 clathrin coat assembly protein AP180 isoform gg
NM_001376688.1 NP_001363617.1 clathrin coat assembly protein AP180 isoform i
NM_001376689.1 NP_001363618.1 clathrin coat assembly protein AP180 isoform i
NM_001376690.1 NP_001363619.1 clathrin coat assembly protein AP180 isoform i
NM_001376691.1 NP_001363620.1 clathrin coat assembly protein AP180 isoform i
NM_001376692.1 NP_001363621.1 clathrin coat assembly protein AP180 isoform i
NM_001376693.1 NP_001363622.1 clathrin coat assembly protein AP180 isoform j
NM_001376694.1 NP_001363623.1 clathrin coat assembly protein AP180 isoform k
NM_001376695.1 NP_001363624.1 clathrin coat assembly protein AP180 isoform l
NM_001376696.1 NP_001363625.1 clathrin coat assembly protein AP180 isoform l
NM_001376697.1 NP_001363626.1 clathrin coat assembly protein AP180 isoform l
NM_001376698.1 NP_001363627.1 clathrin coat assembly protein AP180 isoform l
NM_001376699.1 NP_001363628.1 clathrin coat assembly protein AP180 isoform m
NM_001376700.1 NP_001363629.1 clathrin coat assembly protein AP180 isoform m
NM_001376701.1 NP_001363630.1 clathrin coat assembly protein AP180 isoform n
NM_001376702.1 NP_001363631.1 clathrin coat assembly protein AP180 isoform o
NM_001376703.1 NP_001363632.1 clathrin coat assembly protein AP180 isoform o
NM_001376704.1 NP_001363633.1 clathrin coat assembly protein AP180 isoform o
NM_001376705.1 NP_001363634.1 clathrin coat assembly protein AP180 isoform o
NM_001376706.1 NP_001363635.1 clathrin coat assembly protein AP180 isoform o
NM_001376707.1 NP_001363636.1 clathrin coat assembly protein AP180 isoform o
NM_001376708.1 NP_001363637.1 clathrin coat assembly protein AP180 isoform b
NM_001376709.1 NP_001363638.1 clathrin coat assembly protein AP180 isoform b
NM_001376710.1 NP_001363639.1 clathrin coat assembly protein AP180 isoform b
NM_001376711.1 NP_001363640.1 clathrin coat assembly protein AP180 isoform b
NM_001376712.1 NP_001363641.1 clathrin coat assembly protein AP180 isoform hh
NM_001376713.1 NP_001363642.1 clathrin coat assembly protein AP180 isoform p
NM_001376714.1 NP_001363643.1 clathrin coat assembly protein AP180 isoform p
NM_001376715.1 NP_001363644.1 clathrin coat assembly protein AP180 isoform q
NM_001376716.1 NP_001363645.1 clathrin coat assembly protein AP180 isoform r
NM_001376717.1 NP_001363646.1 clathrin coat assembly protein AP180 isoform s
NM_001376718.1 NP_001363647.1 clathrin coat assembly protein AP180 isoform t
NM_001376719.1 NP_001363648.1 clathrin coat assembly protein AP180 isoform u
NM_001376720.1 NP_001363649.1 clathrin coat assembly protein AP180 isoform v
NM_001376721.1 NP_001363650.1 clathrin coat assembly protein AP180 isoform v
NM_001376723.1 NP_001363652.1 clathrin coat assembly protein AP180 isoform v
NM_001376726.1 NP_001363655.1 clathrin coat assembly protein AP180 isoform v
NM_001376728.1 NP_001363657.1 clathrin coat assembly protein AP180 isoform v
NM_001376731.1 NP_001363660.1 clathrin coat assembly protein AP180 isoform w
NM_001376733.1 NP_001363662.1 clathrin coat assembly protein AP180 isoform x
NM_001376734.1 NP_001363663.1 clathrin coat assembly protein AP180 isoform x
NM_001376735.1 NP_001363664.1 clathrin coat assembly protein AP180 isoform y
NM_001376736.1 NP_001363665.1 clathrin coat assembly protein AP180 isoform z
NM_001376737.1 NP_001363666.1 clathrin coat assembly protein AP180 isoform aa
NM_001376738.1 NP_001363667.1 clathrin coat assembly protein AP180 isoform bb
NM_001376739.1 NP_001363668.1 clathrin coat assembly protein AP180 isoform cc
NM_001376740.1 NP_001363669.1 clathrin coat assembly protein AP180 isoform dd
NM_001376741.1 NP_001363670.1 clathrin coat assembly protein AP180 isoform ee
NM_001376742.1 NP_001363671.1 clathrin coat assembly protein AP180 isoform ff
NM_014841.3 NP_055656.1 clathrin coat assembly protein AP180 isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17762867 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within regulation of clathrin-dependent endocytosis IMP
IMP: 通过突变表型推断
16254249 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

SNAP91 蛋白结构

ANTH

ANTH: ANTH domain (21 - 284)

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  • 907 a.a.
蛋白主名 其他名称

clathrin coat assembly protein AP180

91 kDa synaptosomal-associated protein

关联疾病

疾病名称 别名
Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2

Cataract 8, Multiple Types

Ccv

Cataract, Congenital, Volkmann Type

CTRCT8

Cataract 8 Multiple Types

Cataract Congenital Volkmann Type

Cutaneous Collagenous Vasculopathy

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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

直系同源

种属 基因名 来源 基因 ID
Felis catus SNAP91 VGNC VGNC:65518
Rattus norvegicus SNAP91 RGD RGD:69276
Bos taurus SNAP91 VGNC VGNC:59365
Canis familiaris SNAP91 VGNC VGNC:46590
Mus musculus SNAP91 MGD MGI:109132
Macaca mulatta SNAP91 VGNC VGNC:77711