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  2. GAB1 - GRB2 associated binding protein 1 Gene

GAB1 - GRB2 associated binding protein 1 Gene

中文名称:GRB2 相关结合蛋白 1

种属: Homo sapiens

同用名: DFNB26

基因 ID: 2549 | 基因类型: protein coding

关于 GAB1

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:143,336,876-143,474,565 (from NCBI)

This gene has 14 transcripts (splice variants), 258 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 3.3), lung (RPKM 3.0) and 25 other tissues.

功能概要

该基因编码的蛋白质是 IRS1 样多底物对接蛋白家族的成员。它是分支小管发生的重要介质,在细胞生长反应、转化和细胞凋亡中起着核心作用。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 8 月]

The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and Apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GAB1 基因产物(2)

mRNA Protein Name
NM_002039.4 NP_002030.2 GRB2-associated-binding protein 1 isoform b
NM_207123.3 NP_997006.1 GRB2-associated-binding protein 1 isoform a
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
9658397 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in angiogenesis IMP
IMP: 通过突变表型推断
17178724 GOA
involved in endothelial cell chemotaxis IMP
IMP: 通过突变表型推断
17178724 GOA
involved in positive regulation of angiogenesis IMP
IMP: 通过突变表型推断
25217442 GOA
involved in vascular endothelial growth factor signaling pathway IMP
IMP: 通过突变表型推断
17178724 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell-cell junction IMP
IMP: 通过突变表型推断
26706435 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

GAB1 蛋白结构

PH

PH: PH domain (6 - 115)

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

GRB2-associated-binding protein 1

GRB2-associated binder 1

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 26

DFNB26

Autosomal Recessive Nonsyndromic Deafness 26

Autosomal Recessive Deafness 26

Deafness, Autosomal Recessive, 26

Olfactory Groove Meningioma

Meningioma Of The Olfactory Groove

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Childhood Hepatocellular Carcinoma

Pediatric Hepatocellular Carcinoma

Childhood Carcinoma Of Liver Cell

Childhood Hepatoma

Childhood Liver Cell Carcinoma

Pediatric Carcinoma Of Liver Cell

Pediatric Hepatoma

Pediatric Liver Cell Carcinoma

Childhood-Onset Hcc

Childhood-Onset Hepatocellular Carcinoma

Pediatric Hcc

Childhood Liver Cancer

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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
Mus musculus GAB1 MGD MGI:108088
Bos taurus GAB1 VGNC VGNC:29183
Felis catus GAB1 VGNC VGNC:62412
Canis familiaris GAB1 VGNC VGNC:41045
Rattus norvegicus GAB1 RGD RGD:1311085
Macaca mulatta GAB1 VGNC VGNC:72842