2. Gene
  3. SHANK1 - SH3 and multiple ankyrin repeat domains 1 Gene

SHANK1 - SH3 and multiple ankyrin repeat domains 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：SH3 和多个锚蛋白重复结构域 1

种属: Homo sapiens

同用名: SSTRIP; SPANK-1; synamon

基因 ID: 50944 | 基因类型: protein coding

关于 SHANK1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,659,255-50,719,802 (from NCBI)

This gene has 7 transcripts (splice variants), 257 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 17.7) and adrenal (RPKM 0.7).

功能概要

该基因编码 SHANK (包含 SH3 结构域和锚蛋白重复序列) 蛋白质家族的成员。该家族的成员充当神经元突触发育和功能所需的支架蛋白。该基因的缺失可能与男性自闭症谱系障碍有关。[RefSeq 提供，2016 年 4 月]

This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]

SHANK1 基因产物(1)

mRNA Protein Name
NM_016148.5 NP_057232.2 SH3 and multiple ankyrin repeat domains protein 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 protein binding IPI
IPI: 通过物理相互作用推断
10551867 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adult behavior IMP
IMP: 通过突变表型推断
22503632 GOA
involved in determination of affect IMP
IMP: 通过突变表型推断
22503632 GOA
involved in social behavior IMP
IMP: 通过突变表型推断
22503632 GOA
involved in vocalization behavior IMP
IMP: 通过突变表型推断
22503632 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
10551867 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

SHANK1 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (187 - 277)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (318 - 402)

SH3_2

SH3_2: Variant SH3 domain (561 - 611)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (665 - 753)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (2097 - 2157)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2161 a.a.
蛋白主名 其他名称

SH3 and multiple ankyrin repeat domains protein 1

SSTR-interacting protein

SHANK1 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
SHANK1 Q9Y566 RPS6KA2 Homo sapiens Q15349
P8 Filamentous Phage
30126976
种属内
SHANK1 Q9Y566 RPS6KA2 Homo sapiens Q15349
MST
30126976
种属内
SHANK1 Q9Y566 ACE2 Homo sapiens Q9BYF1
Pull Down
34835087
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
Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Schizophrenia 15

SCZD15

Schizophrenia 15 With Or Without An Affective Disorder

Schizophrenia Susceptibility Locus, Chromosome 22q13-Related

Schizophrenia Susceptibility Locus Chromosome 22q13-Related

Schizophrenia, Type 15
Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome
Phelan-Mcdermid Syndrome

Chromosome 22q13.3 Deletion Syndrome

22q13.3 Deletion Syndrome

Telomeric 22q13 Monosomy Syndrome

PHMDS

Deletion 22q13 Syndrome

22q13.3 Deletion

Deletion 22q13.3 Syndrome

Monosomy 22q13

Monosomy 22q13.3

22q13 Deletion Syndrome

Monosomy 22q13 Syndrome

22q13 Deletion

Chromosome Deletion
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Chromosomal Deletion Syndrome
Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders
Atrial Septal Defect 2

ASD2

Atrial Heart Septal Defect 2

Atrial Septal Defect-2

Asd Ii

Septal Defect, Atrial, Type 2
Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal 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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12850 SHANK1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SHANK1 VGNC VGNC:53977
Mus musculus SHANK1 MGD MGI:3613677
Bos taurus SHANK1 VGNC VGNC:34585
Rattus norvegicus SHANK1 RGD RGD:621011
Macaca mulatta SHANK1 VGNC VGNC:77236
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