1. Gene
  2. AP1G1 - adaptor related protein complex 1 subunit gamma 1 Gene

AP1G1 - adaptor related protein complex 1 subunit gamma 1 Gene

中文名称:适配器相关蛋白复合物 1 亚基 γ 1

种属: Homo sapiens

同用名: ADTG; CLAPG1; USRISD

基因 ID: 164 | 基因类型: protein coding

关于 AP1G1

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:71,729,000-71,808,834 (from NCBI)

This gene has 22 transcripts (splice variants), 207 orthologues, 4 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 21.3), testis (RPKM 19.3) and 25 other tissues.

功能概要

适应蛋白是网格蛋白包被的囊泡的重要组成部分,可将配体-受体复合物从质膜或跨高尔基体网络转运至溶酶体。适应蛋白家族由四类分子组成,分别称为α、β-、β-和γ-适应蛋白。适应蛋白与中、小亚基一起形成称为适配器的异四聚体复合物,其作用是促进网格蛋白包被的小坑和小泡的形成。该基因编码的蛋白质是一种γ-适应蛋白,属于衔接复合物大亚基家族。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 7 月]

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

AP1G1 基因产物(2)

mRNA Protein Name
NM_001030007.2 NP_001025178.1 AP-1 complex subunit gamma-1 isoform a
NM_001128.6 NP_001119.3 AP-1 complex subunit gamma-1 isoform b
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 GTP-dependent protein binding IPI
IPI: 通过物理相互作用推断
22511774 GOA
enables kinesin binding IPI
IPI: 通过物理相互作用推断
19841138 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12505986 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
22511774 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to lysosome transport IMP
IMP: 通过突变表型推断
23632890 GOA
involved in endosome to melanosome transport IMP
IMP: 通过突变表型推断
22511774 GOA
involved in positive regulation of natural killer cell degranulation IMP
IMP: 通过突变表型推断
23632890 GOA
involved in positive regulation of natural killer cell mediated cytotoxicity IMP
IMP: 通过突变表型推断
23632890 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
9733768 GOA
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
12536145 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
19841138 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

AP1G1 蛋白结构

Adaptin_N

Adaptin_N: Adaptin N terminal region (23 - 573)

Alpha_adaptinC2

Alpha_adaptinC2: Adaptin C-terminal domain (706 - 817)

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

AP-1 complex subunit gamma-1

adapter-related protein complex 1 subunit gamma-1

AP1G1 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
AP1G1 O43747 AP1S2 Homo sapiens P56377 29892012
种属内
AP1G1 O43747 RABEP1 Homo sapiens Q15276 12505986
种属间: 跨种属相互作用 种属内: 同种属相互作用

AP1G1 抗体

目录号 产品名 应用 反应物种
HY-P83248 gamma Adaptin Antibody (YA2993) WB, IHC-P Human, Mouse, Rat

关联疾病

疾病名称 别名
Usmani-Riazuddin Syndrome, Autosomal Dominant

USRISD

Usmani-Riazuddin Syndrome, Autosomal Recessive

USRISR

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome

WTS

Mrxs6

X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

Mrxswt

Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity

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 AP1G1 VGNC VGNC:37952
Felis catus AP1G1 VGNC VGNC:67721
Macaca mulatta AP1G1 VGNC VGNC:69958
Bos taurus AP1G1 VGNC VGNC:25977
Mus musculus AP1G1 MGD MGI:101919
Rattus norvegicus AP1G1 RGD RGD:619785