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

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

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