突触蛋白 I（SYN1）基因

admin

2025-07-30 16:06:31

SYN1 - synapsin I Gene

基因

蛋白

疾病

相关产品

直系同源

中文名称：突触蛋白 I

种属: Homo sapiens

同用名: SYNI; EPILX; MRX50; SYN1a; SYN1b; EPILX1

基因 ID: 6853

基因类型: protein coding

关于 SYN1

Cytogenetic location: Xp11.3-p11.23

Genomic coordinates (GRCh38): X:47,571,901-47,619,857 (from NCBI)

This gene has 5 transcripts (splice variants), 107 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 99.5) and adrenal (RPKM 5.6).

功能概要

该基因是突触蛋白基因家族的成员。突触蛋白编码与突触小泡的细胞质表面相关的神经元磷蛋白。家族成员的特征是共同的蛋白质结构域，它们与突触发生和神经递质释放的调节有关，表明它们在多种神经精神疾病中具有潜在作用。突触蛋白家族的这个成员在轴突发生和突触发生的调节中发挥作用。所编码的蛋白质作为几种不同蛋白激酶的底物，磷酸化可能在神经末梢调节这种蛋白质。该基因的突变可能与伴有原发性神经元变性的 X 连锁疾病有关，例如 Rett 综合征。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

SYN1 基因产物(2)

mRNA

Protein

Name

NM_006950.3

NP_008881.2

synapsin-1 isoform Ia

NM_133499.2

NP_598006.1

synapsin-1 isoform Ib

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 protein binding

IPI

IPI: 通过物理相互作用推断

23406870

GOA

生物过程 GO 注释

逻辑证据

参考文献

来源

involved in regulation of synaptic vesicle exocytosis

IMP

IMP: 通过突变表型推断

21441247

GOA

细胞组分 GO 注释

逻辑证据

参考文献

来源

located in cytoskeleton

IDA

IDA: 通过直接分析推断

24327345

GOA

located in presynapse

IDA

IDA: 通过直接分析推断

21441247

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

SYN1 蛋白结构

Synapsin_N

Synapsin_N: Synapsin N-terminal (1 - 32)

Synapsin

Synapsin: Synapsin, N-terminal domain (113 - 212)

Synapsin_C

Synapsin_C: Synapsin, ATP binding domain (214 - 416)

200

400

600

705 a.a.

蛋白主名

其他名称

synapsin-1

brain protein 4.1

SYN1 抗体

目录号

产品名

应用

反应物种

HY-P82119

Phospho-Synapsin I (Ser9) Antibody (YA1864)

WB, IHC-P

Human, Rat

HY-P84138

SYN1 Antibody (YA3835)

WB, IHC-P, ICC/IF, FC, ELISA

Human, Mouse, Monkey, Rat

HY-P86325

Synapsin I Antibody (YA6017)

WB, IHC-P, ICC/IF, IP, ELISA

Human, Mouse, Rat

关联疾病

疾病名称

别名

Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders

X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome

EPILX

X-Linked Epilepsy With Variable Learning Disabilities And Behavior Disorders

Epilepsy, X-Linked, With Reflex Bathing Seizures

Bathing Epilepsy, X-Linked

Intellectual Developmental Disorder, X-Linked 50

Mrx50

XLID50

Mental Retardation, X-Linked 50

Non-Syndromic X-Linked Intellectual Disability 50

X-Linked Intellectual Developmental Disorder 50

X-Linked Mental Retardation 50

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Reflex Epilepsy

Epilepsy, Reflex

Epilepsy, Sensory-Induced

Epilepsy Reflex

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

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]

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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

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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

疾病名称

别名

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Blog

突触蛋白 I（SYN1）基因