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

C1orf56 - chromosome 1 open reading frame 56 Gene

Homo sapiens

Also known as MENT

Gene ID: 54964 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_017860.5 NP_060330.2 protein MENT precursor

C1orf56 Protein Structure

PMSI1

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

  • 0
  • 100
  • 200
  • 300
  • 341 a.a.
Protein Preferred Names Protein Names

protein MENT

methylated in normal thymocytes protein

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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