1. Gene
  2. AP3S1 - adaptor related protein complex 3 subunit sigma 1 Gene

AP3S1 - adaptor related protein complex 3 subunit sigma 1 Gene

中文名称:适配器相关蛋白复合物 3 亚基 sigma 1

种属: Homo sapiens

同用名: CLAPS3; Sigma3A

基因 ID: 1176 | 基因类型: protein coding

关于 AP3S1

Cytogenetic location: 5q22.3-q23.1 Genomic coordinates (GRCh38): 5:115,841,935-115,914,081 (from NCBI)

This gene has 8 transcripts (splice variants), 199 orthologues and 6 paralogues. Ubiquitous expression in bone marrow (RPKM 9.7), small intestine (RPKM 6.5) and 25 other tissues.

功能概要

该基因编码 AP3 适配器复合体的一个亚基。该复合物在从高尔基体出芽的亚细胞囊泡的形成中发挥作用。已发现该基因的几个相关假基因。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2015 年 12 月]

This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

AP3S1 基因产物(9)

mRNA Protein Name
NM_001002924.3 NP_001002924.2 AP-3 complex subunit sigma-1 isoform 2
NM_001284.4 NP_001275.1 AP-3 complex subunit sigma-1 isoform 1
NM_001318090.2 NP_001305019.1 AP-3 complex subunit sigma-1 isoform 3
NM_001318091.2 NP_001305020.1 AP-3 complex subunit sigma-1 isoform 4
NM_001318093.2 NP_001305022.1 AP-3 complex subunit sigma-1 isoform 5
NM_001318094.2 NP_001305023.1 AP-3 complex subunit sigma-1 isoform 6
NM_001364119.1 NP_001351048.1 AP-3 complex subunit sigma-1 isoform 7
NM_001364120.1 NP_001351049.1 AP-3 complex subunit sigma-1 isoform 8
NM_001364122.1 NP_001351051.1 AP-3 complex subunit sigma-1 isoform 9
基因本体论
  • 分子功能
  • 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
16162817 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of AP-3 adaptor complex IDA
IDA: 通过直接分析推断
9118953 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

AP3S1 蛋白结构

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (1 - 147)

  • 0
  • 100
  • 193 a.a.
蛋白主名 其他名称

AP-3 complex subunit sigma-1

adapter-related protein complex 3 subunit sigma-1

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 73

DEE73

Epileptic Encephalopathy, Early Infantile, 73

Eiee73

Developmental And Epileptic Encephalopathy, 73

Early Infantile Epileptic Encephalopathy 73

Rnf13-Related Severe Early-Onset Epileptic Encephalopathy

Rnf13-Related Severe Eoee

Intellectual Developmental Disorder, Autosomal Dominant 56

Mental Retardation, Autosomal Dominant 56

MRD56

Autosomal Dominant Mental Retardation 56

Autosomal Dominant Intellectual Developmental Disorder 56

Autosomal Dominant Intellectual Developmental Disorder-56

Developmental And Epileptic Encephalopathy 48

DEE48

Epileptic Encephalopathy, Early Infantile, 48

Eiee48

Developmental And Epileptic Encephalopathy, 48

Early Infantile Epileptic Encephalopathy 48

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

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 AP3S1 VGNC VGNC:37967
Macaca mulatta AP3S1 VGNC VGNC:69867
Rattus norvegicus AP3S1 RGD RGD:1311115
Mus musculus AP3S1 MGD MGI:1337062