Cox6a1 cytochrome c oxidase subunit 6A1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cox6a1provided by MGI
Official Full Name: cytochrome c oxidase subunit 6A1provided by MGI
Primary source: MGI:MGI:103099
See related: Ensembl:ENSMUSG00000041697 AllianceGenome:MGI:103099
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: VIaL
Summary: Predicted to enable enzyme regulator activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion and myelin sheath. Is expressed in several structures, including alimentary system; cranium; genitourinary system; nervous system; and sensory organ. Used to study Charcot-Marie-Tooth disease recessive intermediate D. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate D. Orthologous to human COX6A1 (cytochrome c oxidase subunit 6A1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in duodenum adult (RPKM 2589.4), colon adult (RPKM 2186.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 56.06 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (115483711..115487017, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (115345652..115348958, complement)

Chromosome 5 - NC_000071.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We demonstrate a developmental isoform switch of COX6A and COX7A subunits in human and mouse skeletal muscle
Title: Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease.
Loss of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
Title: A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cox6a1 (e-PCR), detects polymorphism
- UniSTS:141383

RH136589 (e-PCR)
- UniSTS:210569

L06465 (e-PCR)
- UniSTS:159431

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables enzyme regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mitochondrial electron transport, cytochrome c to oxygen	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxidative phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
part_of respiratory chain complex IV	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex IV	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cytochrome c oxidase subunit 6A1, mitochondrial

Names: cytochrome c oxidase polypeptide VIa-liver; cytochrome c oxidase subunit VIa polypeptide 1; subunit VIaL (liver-type)

NP_031774.2

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.

mRNA and Protein(s)

NM_007748.5 → NP_031774.2 cytochrome c oxidase subunit 6A1, mitochondrial

Status: VALIDATED

Source sequence(s)

AC117735

Consensus CDS

CCDS19590.1

UniProtKB/Swiss-Prot

P43024

UniProtKB/TrEMBL

Q9DCW5

Related

ENSMUSP00000047661.10, ENSMUST00000040154.10

Conserved Domains (1) summary

cd00925
Location:24 → 109

Cyt_c_Oxidase_VIa; Cytochrome c oxidase subunit VIa. 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 ...