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C1orf127 chromosome 1 open reading frame 127 [ Homo sapiens (human) ]

Gene ID: 148345, updated on 19-Jul-2022

Summary

Official Symbol
C1orf127provided by HGNC
Official Full Name
chromosome 1 open reading frame 127provided by HGNC
Primary source
HGNC:HGNC:26730
See related
Ensembl:ENSG00000175262 MIM:619700; AllianceGenome:HGNC:26730
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Broad expression in stomach (RPKM 1.3), pancreas (RPKM 0.6) and 15 other tissues See more
Orthologs
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Genomic context

See C1orf127 in Genome Data Viewer
Location:
1p36.22
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (10946475..10982076, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (10485796..10523301, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11006532..11042133, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs241 Neighboring gene uncharacterized LOC105376735 Neighboring gene Sharpr-MPRA regulatory region 3012 Neighboring gene cofilin 1 pseudogene 6 Neighboring gene TAR DNA binding protein Neighboring gene MBL associated serine protease 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

EBI GWAS Catalog

Description
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37118, FLJ37833

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
uncharacterized protein C1orf127

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001170754.2NP_001164225.1  uncharacterized protein C1orf127 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AL358492
    Consensus CDS
    CCDS53267.1
    UniProtKB/TrEMBL
    B7ZLG7, G8JLG8
    Related
    ENSP00000366203.4, ENST00000377004.9
    Conserved Domains (1) summary
    pfam15094
    Location:151365
    DUF4556; Domain of unknown function (DUF4556)
  2. NM_001366227.2NP_001353156.1  uncharacterized protein C1orf127 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL358492
    Conserved Domains (2) summary
    pfam15094
    Location:12226
    DUF4556; Domain of unknown function (DUF4556)
    cl26464
    Location:330633
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    10946475..10982076 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446828.1XP_047302784.1  uncharacterized protein C1orf127 isoform X1

  2. XM_047446830.1XP_047302786.1  uncharacterized protein C1orf127 isoform X2

  3. XM_047446831.1XP_047302787.1  uncharacterized protein C1orf127 isoform X3

  4. XM_047446829.1XP_047302785.1  uncharacterized protein C1orf127 isoform X2

    Related
    ENSP00000387816.2, ENST00000418570.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    10485796..10523301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173507.1: Suppressed sequence

    Description
    NM_173507.1: This RefSeq was permanently suppressed because the CDS was partial.