COX8A cytochrome c oxidase subunit 8A [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX8Aprovided by HGNC
Official Full Name: cytochrome c oxidase subunit 8Aprovided by HGNC
Primary source: HGNC:HGNC:2294
See related: Ensembl:ENSG00000176340 MIM:123870; AllianceGenome:HGNC:2294
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
Also known as: COX; COX8; VIII; COX8L; COX8-2; VIII-L; MC4DN15
Summary: The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 159.8), colon (RPKM 143.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (63974620..63976543)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (63964325..63966248)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (63742092..63744015)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A.
Title: Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A.
COX8A is indispensable for function of human complex IV and its mutation causes Leigh-like syndrome and epilepsy.
Title: Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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

Associated conditions

Description	Tests
Mitochondrial complex 4 deficiency, nuclear type 15 MedGen: C5436712 OMIM: 619059 GeneReviews: Not available	Compare labs

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:197529 (e-PCR)
- UniSTS:155941

COX8 (e-PCR)
- UniSTS:66624

D11S4326 (e-PCR)
- UniSTS:58958

RH11612 (e-PCR)
- UniSTS:77456

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytochrome-c oxidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, cytochrome c to oxygen	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
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 8A, mitochondrial

Names: cytochrome c oxidase polypeptide VIII-liver/heart; cytochrome c oxidase subunit 8-2; cytochrome c oxidase subunit 8A (ubiquitous); cytochrome c oxidase subunit VIII; cytochrome c oxidase subunit VIIIA (ubiquitous)

NP_004065.1

EC 7.1.1.9

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.

Genomic

NG_046750.1 RefSeqGene

Range

5014..6937

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004074.3 → NP_004065.1 cytochrome c oxidase subunit 8A, mitochondrial

See identical proteins and their annotated locations for NP_004065.1

Status: REVIEWED

Source sequence(s)

BC063025

Consensus CDS

CCDS8054.1

UniProtKB/Swiss-Prot

P10176, P15955

UniProtKB/TrEMBL

Q53XN1

Related

ENSP00000321260.3, ENST00000314133.4

Conserved Domains (1) summary

cd00930
Location:26 → 68

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 ...