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C6orf120 chromosome 6 open reading frame 120 [ Homo sapiens (human) ]

Gene ID: 387263, updated on 21-Dec-2019

Summary

Official Symbol
C6orf120provided by HGNC
Official Full Name
chromosome 6 open reading frame 120provided by HGNC
Primary source
HGNC:HGNC:21247
See related
Ensembl:ENSG00000185127 MIM:616987
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in fat (RPKM 13.9), adrenal (RPKM 13.5) and 25 other tissues See more
Orthologs

Genomic context

See C6orf120 in Genome Data Viewer
Location:
6q27
Exon count:
1
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (169702112..169706360)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (170102238..170106402)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2519 Neighboring gene WD repeat domain 27 Neighboring gene PHD finger protein 10 Neighboring gene t-complex-associated-testis-expressed 3 Neighboring gene ER membrane associated RNA degradation

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

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

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_001029863.2NP_001025034.1  UPF0669 protein C6orf120 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001025034.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AF055030, AI768935, AK295061, BC051700, CF994905, CR735892
    Consensus CDS
    CCDS34575.1
    UniProtKB/Swiss-Prot
    Q7Z4R8
    Related
    ENSP00000346931.1, ENST00000332290.3
    Conserved Domains (1) summary
    pfam17065
    Location:8191
    UPF0669; Putative cytokine, C6ORF120
  2. NM_001317342.2NP_001304271.1  UPF0669 protein C6orf120 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 5' region and initiates translation at an upstream in-frame start codon compared to variant 1. The encoded isoform (2) has a longer N-terminus than isoform 1.
    Source sequence(s)
    AF055030, AI768935, AK295061, AK295962, AL513547, BC051700, CF994905, CR735892
    UniProtKB/Swiss-Prot
    Q7Z4R8
    UniProtKB/TrEMBL
    B4DJ79
    Conserved Domains (1) summary
    pfam17065
    Location:27210
    UPF0669; Putative cytokine, C6ORF120

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    169702112..169706360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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