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  2. NCKAP1 - NCK associated protein 1 Gene

NCKAP1 - NCK associated protein 1 Gene

中文名称:NCK 相关蛋白 1

种属: Homo sapiens

同用名: HEM2; NAP1; NAP125; p125Nap1

基因 ID: 10787 | 基因类型: protein coding

关于 NCKAP1

Cytogenetic location: 2q32.1 Genomic coordinates (GRCh38): 2:182,909,115-183,038,457 (from NCBI)

This gene has 10 transcripts (splice variants), 226 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 62.7), brain (RPKM 61.6) and 24 other tissues.

功能概要

有助于小 GTPase 结合活动。参与 Rac 蛋白信号转导; Arp2/3 复合物介导的肌动蛋白成核的正调控;和 lamellipodium 组件的正向调节。位于细胞外外泌体和粘着斑。 SCAR 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Contributes to small GTPase binding activity. Involved in Rac protein signal transduction; positive regulation of Arp2/3 complex-mediated actin nucleation; and positive regulation of lamellipodium assembly. Located in extracellular exosome and focal adhesion. Part of SCAR complex. [provided by Alliance of Genome Resources, Apr 2022]

NCKAP1 基因产物(2)

mRNA Protein Name
NM_013436.5 NP_038464.1 nck-associated protein 1 isoform 1
NM_205842.3 NP_995314.1 nck-associated protein 1 isoform 2
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
11418237 GOA
contributes to small GTPase binding IDA
IDA: 通过直接分析推断
21107423 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Rac protein signal transduction IDA
IDA: 通过直接分析推断
21107423 GOA
involved in positive regulation of Arp2/3 complex-mediated actin nucleation IDA
IDA: 通过直接分析推断
21107423 GOA
involved in positive regulation of lamellipodium assembly IDA
IDA: 通过直接分析推断
21107423 GOA
involved in positive regulation of lamellipodium assembly IMP
IMP: 通过突变表型推断
18560548 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SCAR complex IDA
IDA: 通过直接分析推断
21107423 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

NCKAP1 蛋白结构

Nckap1

Nckap1: Membrane-associated apoptosis protein (8 - 1123)

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  • 1128 a.a.
蛋白主名 其他名称

nck-associated protein 1

membrane-associated protein HEM-2

NCKAP1 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
Intra NCKAP1 Q9Y2A7 CYFIP1 Homo sapiens Q7L576
Anti Tag CoIP
33961781
Intra NCKAP1 Q9Y2A7 CYFIP1 Homo sapiens Q7L576
Y2H
15296760
Intra NCKAP1 Q9Y2A7 CYFIP1 Homo sapiens Q7L576
Anti Tag CoIP
35271311
Intra NCKAP1 Q9Y2A7 CYFIP1 Homo sapiens Q7L576
Y2H
15294869
Intra NCKAP1 Q9Y2A7 ABI1 Homo sapiens Q8IZP0
Anti Bait CoIP
15048123
Intra NCKAP1 Q9Y2A7 ABI1 Homo sapiens Q8IZP0
Anti Tag CoIP
33961781
Intra NCKAP1 Q9Y2A7 ABI1 Homo sapiens Q8IZP0
CoIP
11418237
Intra NCKAP1 Q9Y2A7 ABI1 Homo sapiens Q8IZP0
Anti Tag CoIP
35271311
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
Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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 NCKAP1 VGNC VGNC:43653
Rattus norvegicus NCKAP1 RGD RGD:61939
Bos taurus NCKAP1 VGNC VGNC:31915
Macaca mulatta NCKAP1 VGNC VGNC:75143
Mus musculus NCKAP1 MGD MGI:1355333
Felis catus NCKAP1 VGNC VGNC:68429