1. Gene
  2. SNCAIP - synuclein alpha interacting protein Gene

SNCAIP - synuclein alpha interacting protein Gene

中文名称:突触核蛋白α相互作用蛋白

种属: Homo sapiens

同用名: Sph1; SYPH1

基因 ID: 9627 | 基因类型: protein coding

关于 SNCAIP

Cytogenetic location: 5q23.2 Genomic coordinates (GRCh38): 5:122,311,353-122,464,219 (from NCBI)

This gene has 19 transcripts (splice variants), 191 orthologues and is associated with 1 phenotype. Biased expression in ovary (RPKM 8.3), endometrium (RPKM 6.2) and 11 other tissues.

功能概要

该基因编码的蛋白质包含多个蛋白质-蛋白质相互作用结构域,包括锚蛋白样重复序列、卷曲螺旋结构域和 ATP/GTP 结合基序。编码的蛋白质与神经元组织中的 α-突触核蛋白相互作用,并可能在细胞质包涵体的形成和神经变性中发挥作用。该基因的突变与帕金森病有关。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 4 月]

This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

SNCAIP 基因产物(8)

mRNA Protein Name
NM_001242935.3 NP_001229864.1 synphilin-1 isoform 1A
NM_001308100.2 NP_001295029.1 synphilin-1 isoform 2
NM_001308105.1 NP_001295034.1 synphilin-1 isoform B
NM_001308106.1 NP_001295035.1 synphilin-1 isoform D
NM_001308107.2 NP_001295036.1 synphilin-1 isoform E
NM_001308108.1 NP_001295037.1 synphilin-1 isoform F
NM_001308109.2 NP_001295038.1 synphilin-1 isoform G
NM_005460.4 NP_005451.2 synphilin-1 isoform 1
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 identical protein binding IPI
IPI: 通过物理相互作用推断
19762560 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10319874 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
15728840 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell death IDA
IDA: 通过直接分析推断
16595633 GOA
acts upstream of or within dopamine metabolic process IDA
IDA: 通过直接分析推断
14506261 GOA
involved in regulation of inclusion body assembly IDA
IDA: 通过直接分析推断
15603737 GOA
acts upstream of or within regulation of neurotransmitter secretion IDA
IDA: 通过直接分析推断
14506261 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
14506261 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

SNCAIP 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (326 - 407)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (425 - 510)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 919 a.a.
蛋白主名 其他名称

synphilin-1

SNCAIP 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
SNCAIP Q9Y6H5 SNCA Homo sapiens P37840
Y2H
12044636
种属内
SNCAIP Q9Y6H5 SNCA Homo sapiens P37840
Pull Down
19762560
种属内
SNCAIP Q9Y6H5 SNCA Homo sapiens P37840
Confocal
19762560
种属内
SNCAIP Q9Y6H5 SNCA Homo sapiens P37840
Y2H
10319874
种属内
SNCAIP Q9Y6H5 SNCA Homo sapiens P37840
Confocal
10319874
种属内
SNCAIP Q9Y6H5 SNCA Homo sapiens P37840
FCS
19762560
种属内
SNCAIP Q9Y6H5 SNCAIP Homo sapiens Q9Y6H5
Pull Down
19762560
种属内
SNCAIP Q9Y6H5 SNCAIP Homo sapiens Q9Y6H5
Crosslink
19762560
种属内
SNCAIP Q9Y6H5 SNCA Homo sapiens P37840
NMR
19762560
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
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

Parkinson Disease 3, Autosomal Dominant

PARK3

Parkinson Disease 3

Parkinson Disease 3, Autosomal Dominant Lewy Body

Parkinson'S Disease 3

Autosomal Dominant Lewy Body Parkinson Disease 3

Autosomal Dominant Parkinson Disease 3

Parkinson Disease Type 3

Autosomal Dominant Parkinson Disease

Parkinson Disease, Autosomal Dominant

Parkinson Disease, Familial, Type 1

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies

DLB

Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type

Lbd

Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]

Juvenile-Onset Parkinson'S Disease

Juvenile-Onset Parkinson Disease

Movement Disease

Movement Disorders

Movement Disorder

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

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
Canis familiaris SNCAIP VGNC VGNC:46597
Macaca mulatta SNCAIP VGNC VGNC:77669
Felis catus SNCAIP VGNC VGNC:65525
Bos taurus SNCAIP VGNC VGNC:35060
Rattus norvegicus SNCAIP RGD RGD:1309283
Mus musculus SNCAIP MGD MGI:1915097