COX8C cytochrome c oxidase subunit 8C [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX8Cprovided by HGNC
Official Full Name: cytochrome c oxidase subunit 8Cprovided by HGNC
Primary source: HGNC:HGNC:24382
See related: Ensembl:ENSG00000187581 MIM:616855; AllianceGenome:HGNC:24382
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
Also known as: COX8-3
Summary: Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 13.0) See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (93347182..93348356)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (87579055..87580228)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (93813528..93814702)

Chromosome 14 - NC_000014.9 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples	PubMed

Go to the HIV-1, Human Interaction Database

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in mitochondrial electron transport, cytochrome c to oxygen	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of mitochondrial respiratory chain complex IV	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex IV	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome c oxidase subunit 8C, mitochondrial

Names: COX VIII-3; cytochrome c oxidase polypeptide 8; cytochrome c oxidase polypeptide VIII; cytochrome c oxidase subunit 8-3; cytochrome c oxidase subunit VIII; cytochrome c oxidase subunit VIIIC

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_182971.3 → NP_892016.1 cytochrome c oxidase subunit 8C, mitochondrial

See identical proteins and their annotated locations for NP_892016.1

Status: VALIDATED

Source sequence(s)

AL122023, AY161004, BC101125

Consensus CDS

CCDS9910.1

UniProtKB/Swiss-Prot

Q495K7, Q7Z4L0

Related

ENSP00000340568.2, ENST00000342144.3

Conserved Domains (1) summary

cd00930
Location:29 → 72

Cyt_c_Oxidase_VIII; Cytochrome oxidase c subunit VIII. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...