1. Gene
  2. CHFR - checkpoint with forkhead and ring finger domains Gene

CHFR - checkpoint with forkhead and ring finger domains Gene

中文名称:带有分叉头和无名指域的检查点

种属: Homo sapiens

同用名: RNF116; RNF196

基因 ID: 55743 | 基因类型: protein coding

关于 CHFR

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:132,832,356-132,887,618 (from NCBI)

This gene has 24 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in testis (RPKM 9.9), spleen (RPKM 8.8) and 25 other tissues.

功能概要

该基因编码一种 E3 泛素蛋白连接酶,该连接酶是维持调节细胞周期进入有丝分裂的前期检查点所需的,因此可能在细胞周期进程和肿瘤发生中发挥关键作用。编码的蛋白质有一个 N 端叉头相关结构域、一个中央环指结构域和一个富含半胱氨酸的 C 端区域。已经描述了编码不同蛋白质同种型的可变剪接转录物变体。[RefSeq 提供,2014 年 3 月]

This gene encodes an E3 ubiquitin-protein Ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into Mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

CHFR 基因产物(5)

mRNA Protein Name
NM_001161344.1 NP_001154816.1 E3 ubiquitin-protein ligase CHFR isoform 1
NM_001161345.1 NP_001154817.1 E3 ubiquitin-protein ligase CHFR isoform 2
NM_001161346.2 NP_001154818.1 E3 ubiquitin-protein ligase CHFR isoform 3
NM_001161347.1 NP_001154819.1 E3 ubiquitin-protein ligase CHFR isoform 5
NM_018223.2 NP_060693.2 E3 ubiquitin-protein ligase CHFR isoform 4
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 nucleotide binding IDA
IDA: 通过直接分析推断
18172500 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15467728 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
18172500 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in meiotic spindle checkpoint signaling IMP
IMP: 通过突变表型推断
10935642 GOA
involved in mitotic G2/M transition checkpoint IMP
IMP: 通过突变表型推断
18172500 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
19182791 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in PML body IDA
IDA: 通过直接分析推断
15467728 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18172500 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

CHFR 蛋白结构

FHA

FHA: FHA domain (38 - 105)

zf-RING_2

zf-RING_2: Ring finger domain (303 - 343)

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

E3 ubiquitin-protein ligase CHFR

RING finger protein 196

关联疾病

疾病名称 别名
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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
Rattus norvegicus CHFR RGD RGD:1306360
Bos taurus CHFR VGNC VGNC:27288
Macaca mulatta CHFR VGNC VGNC:71064
Felis catus CHFR VGNC VGNC:60853
Canis familiaris CHFR VGNC VGNC:39211
Mus musculus CHFR MGD MGI:2444898
Others CHFR NCBI