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

C1orf127 - chromosome 1 open reading frame 127 Gene

中文名称:1 号染色体开放阅读框 127

种属: Homo sapiens

基因 ID: 148345 | 基因类型: protein coding

关于 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.

功能概要

预计参与心脏发育。预计在确定左/右对称性的上游或内部起作用。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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 蛋白结构

DUF4556

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

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

uncharacterized protein C1orf127

关联疾病

疾病名称 别名
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

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