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

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; AllianceGenome:HGNC:21247
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: mouse all
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Genomic context

Location:: 6q27

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (169702126..169706360)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (171056040..171060272)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (170102222..170106456)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel protein C6ORF120 promotes liver fibrosis by activating hepatic stellate cells through the PI3K/Akt/mTOR pathway.
Title: Novel protein C6ORF120 promotes liver fibrosis by activating hepatic stellate cells through the PI3K/Akt/mTOR pathway.
Results suggested that C6ORF120 could induce apoptosis of CD4(+) T cells, at least in part, mediated with endoplasmic reticulum stress.
Title: Role of C6ORF120, an N-glycosylated protein, is implicated in apoptosis of CD4⁺ T lymphocytes.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1237E (e-PCR)
- UniSTS:39174

RH36593 (e-PCR)
- UniSTS:47464

D6S1902 (e-PCR)
- UniSTS:9681

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: UPF0669 protein C6orf120

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)

NM_001029863.3 → NP_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)

AL513547

Consensus CDS

CCDS34575.1

UniProtKB/Swiss-Prot

B4DHE9, E1P5C9, Q7Z4R8

UniProtKB/TrEMBL

B4DJ79

Related

ENSP00000346931.1, ENST00000332290.4

Conserved Domains (1) summary

pfam17065
Location:8 → 191

UPF0669; Putative cytokine, C6ORF120
NM_001317342.2 → NP_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/TrEMBL

B4DJ79

Conserved Domains (1) summary

pfam17065
Location:27 → 210

UPF0669; Putative cytokine, C6ORF120