1. Gene
  2. GOLGA3 - golgin A3 Gene

GOLGA3 - golgin A3 Gene

中文名称:高金 A3

种属: Homo sapiens

同用名: MEA-2; GCP170

基因 ID: 2802 | 基因类型: protein coding

关于 GOLGA3

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:132,768,914-132,829,081 (from NCBI)

This gene has 41 transcripts (splice variants), 199 orthologues and 3 paralogues. Ubiquitous expression in colon (RPKM 8.3), brain (RPKM 6.7) and 25 other tissues.

功能概要

参与分泌途径中蛋白质和脂质的糖基化和转运的高尔基体由一系列堆叠的池 (扁平膜囊) 组成。高尔基体和微管之间的相互作用被认为对于高尔基体在有丝分裂过程中断裂后的重组很重要。该基因编码定位于高尔基体的高尔金蛋白家族成员。其编码的蛋白质已被假定在核转运和高尔基体定位中发挥作用。已经针对该基因描述了几种编码不同蛋白质同种型的可变剪接转录物变体。[RefSeq 提供,2010 年 2 月]

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during Mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]

GOLGA3 基因产物(9)

mRNA Protein Name
NM_001172557.2 NP_001166028.1 golgin subfamily A member 3 isoform 2
NM_001389683.1 NP_001376612.1 golgin subfamily A member 3 isoform 1
NM_001389684.1 NP_001376613.1 golgin subfamily A member 3 isoform 1
NM_001389685.1 NP_001376614.1 golgin subfamily A member 3 isoform 1
NM_001389686.1 NP_001376615.1 golgin subfamily A member 3 isoform 3
NM_001389687.1 NP_001376616.1 golgin subfamily A member 3 isoform 3
NM_001389688.1 NP_001376617.1 golgin subfamily A member 3 isoform 3
NM_001389689.1 NP_001376618.1 golgin subfamily A member 3 isoform 4
NM_005895.4 NP_005886.2 golgin subfamily A member 3 isoform 1
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
14522980 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
14522980 GOA
located in cytosol IDA
IDA: 通过直接分析推断
14522980 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
蛋白主名 其他名称

golgin subfamily A member 3

Golgi membrane associated protein

关联疾病

疾病名称 别名
Smallpox

Variola

Ordinary Smallpox

Alastrim

Amaas

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C

FANCC

Facc

Fac

Fa3

Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

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
Bos taurus GOLGA3 VGNC VGNC:29484
Canis familiaris GOLGA3 VGNC VGNC:41339
Felis catus GOLGA3 VGNC VGNC:62638
Mus musculus GOLGA3 MGD MGI:96958
Macaca mulatta GOLGA3 VGNC VGNC:73106
Rattus norvegicus GOLGA3 RGD RGD:1305262