1. Gene
  2. CHAC2 - ChaC glutathione specific gamma-glutamylcyclotransferase 2 Gene

CHAC2 - ChaC glutathione specific gamma-glutamylcyclotransferase 2 Gene

中文名称:ChaC 谷胱甘肽特异性γ-谷氨酰环转移酶 2

种属: Homo sapiens

同用名: GCG1

基因 ID: 494143 | 基因类型: protein coding

关于 CHAC2

Cytogenetic location: 2p16.2 Genomic coordinates (GRCh38): 2:53,767,783-53,775,196 (from NCBI)

This gene has 1 transcript (splice variant), 213 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 3.6), testis (RPKM 3.6) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种γ-谷氨酰环转移酶,可催化谷胱甘肽转化为 5-氧代脯氨酸和半胱氨酰甘氨酸。据认为,该基因响应于内质网应激而上调,并且谷胱甘肽消耗增强了细胞凋亡。[RefSeq 提供,2016 年 9 月]

The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances Apoptosis. [provided by RefSeq, Sep 2016]

CHAC2 基因产物(2)

mRNA Protein Name
NM_001008708.4 NP_001008708.1 glutathione-specific gamma-glutamylcyclotransferase 2 isoform 1
NM_001346127.1 NP_001333056.1 glutathione-specific gamma-glutamylcyclotransferase 2 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables glutathione specific gamma-glutamylcyclotransferase activity IDA
IDA: 通过直接分析推断
27913623 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

CHAC2 蛋白结构

ChaC

ChaC: ChaC-like protein (1 - 173)

  • 0
  • 100
  • 184 a.a.
蛋白主名 其他名称

glutathione-specific gamma-glutamylcyclotransferase 2

ChaC cation transport regulator homolog 2

关联疾病

疾病名称 别名
Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d

Pcca

PCH2D

Progressive Cerebello-Cerebral Atrophy

Cerebellocerebral Atrophy, Progressive

Pontocerebellar Hypoplasia 2d

Progressive Cerebellocerebral Atrophy

Hypoplasia, Pontocerebellar, Type 2d

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
Felis catus CHAC2 VGNC VGNC:60833
Mus musculus CHAC2 MGD MGI:1915294
Rattus norvegicus CHAC2 RGD RGD:1309120
Macaca mulatta CHAC2 VGNC VGNC:71151
Bos taurus CHAC2 VGNC VGNC:27263
Canis familiaris CHAC2 VGNC VGNC:39186