1. Gene
  2. C1orf127 - chromosome 1 open reading frame 127 Gene

C1orf127 - chromosome 1 open reading frame 127 Gene

Homo sapiens
Gene ID: 148345 | Gene type: protein coding

About C1orf127

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,946,475-10,982,076 (from NCBI)

This gene has 5 transcripts (splice variants) and 72 orthologues. Broad expression in stomach (RPKM 1.3), pancreas (RPKM 0.6) and 15 other tissues.

Summary

Predicted to be involved in heart development. Predicted to act upstream of or within determination of left/right symmetry. [provided by Alliance of Genome Resources, Apr 2022]

C1orf127 Products(2)

mRNA Protein Name
NM_001170754.2 NP_001164225.1 uncharacterized protein C1orf127 isoform 1 precursor
NM_001366227.2 NP_001353156.1 uncharacterized protein C1orf127 isoform 2

C1orf127 Protein Structure

DUF4556

DUF4556: Domain of unknown function (DUF4556) (151 - 365)

  • 0
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  • 600
  • 823 a.a.
Protein Preferred Names Protein Names

uncharacterized protein C1orf127

Related Diseases

Diseases Alias
Joubert Syndrome 10

JBTS10

Joubert Syndrome, Type 10

Schnyder Corneal Dystrophy

Schnyder Crystalline Corneal Dystrophy

SCCD

Corneal Dystrophy, Crystalline, Of Schnyder

Corneal Dystrophy, Schnyder Type

Corneal Dystrophy Crystalline Of Schnyder

Crystalline Stromal Dystrophy

Hereditary Crystalline Stromal Dystrophy Of Schnyder

Scd

Corneal Dystrophy, Schnyder

Schnyder Crystalline Dystrophy Sine Crystals

Dystrophy, Corneal, Crystalline, Schnyder

Joubert Syndrome 25

JBTS25

Joubert Syndrome, Type 25

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
Macaca mulatta C1orf127 VGNC VGNC:70405
Mus musculus C1orf127 MGD MGI:2685418
Rattus norvegicus C1orf127 RGD RGD:1585063