1. Gene
  2. C1orf56 - chromosome 1 open reading frame 56 Gene

C1orf56 - chromosome 1 open reading frame 56 Gene

中文名称:1 号染色体开放阅读框 56

种属: Homo sapiens

同用名: MENT

基因 ID: 54964 | 基因类型: protein coding

关于 C1orf56

This gene has 3 transcripts (splice variants) and 87 orthologues. Broad expression in testis (RPKM 26.8), spleen (RPKM 8.3) and 24 other tissues.

功能概要

该基因是一种原癌基因,其启动子被 DNA 甲基转移酶 3B (DNMT3B) 甲基化,从而抑制原癌基因。然而,DNMT3B 的催化失活亚型在淋巴瘤中过度表达,导致原癌基因启动子的低甲基化和原癌基因的去阻遏。[RefSeq 提供,2016 年 9 月]

This gene is a proto-oncogene whose promoter is methylated by DNA Methyltransferase 3B (DNMT3B), which represses the proto-oncogene. However, a catalytically inactive isoform of DNMT3B is overexpressed in lymphomas, leading to hypomethylation of the proto-oncogene's promoter and derepression of the proto-oncogene. [provided by RefSeq, Sep 2016]

C1orf56 基因产物(1)

mRNA Protein Name
NM_017860.5 NP_060330.2 protein MENT precursor
基因本体论
  • 分子功能
  • 生物过程
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
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of cell population proliferation IMP
IMP: 通过突变表型推断
22133874 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

C1orf56 蛋白结构

PMSI1

PMSI1: Protein missing in infertile sperm 1, putative (23 - 336)

  • 0
  • 100
  • 200
  • 300
  • 341 a.a.
蛋白主名 其他名称

protein MENT

methylated in normal thymocytes protein

关联疾病

疾病名称 别名
Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

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 C1orf56 RGD RGD:1359334
Mus musculus C1orf56 MGD MGI:2684974
Macaca mulatta C1orf56 VGNC VGNC:70392
Bos taurus C1orf56 VGNC VGNC:52715
Canis familiaris C1orf56 VGNC VGNC:49219