Cox7a2l cytochrome c oxidase subunit 7A2 like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cox7a2lprovided by MGI
Official Full Name: cytochrome c oxidase subunit 7A2 likeprovided by MGI
Primary source: MGI:MGI:106015
See related: Ensembl:ENSMUSG00000024248 AllianceGenome:MGI:106015
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: EB1; SIG81; Scaf1; COX7AR; COX7RP; SIG-81; Silg81
Summary: Predicted to enable cytochrome-c oxidase activity. Involved in mitochondrial respirasome assembly and regulation of oxidative phosphorylation. Located in mitochondrial respirasome. Is expressed in several structures, including alimentary system; facial bone primordium; nervous system; respiratory system; and sensory organ. Orthologous to human COX7A2L (cytochrome c oxidase subunit 7A2 like). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 103.0), heart adult (RPKM 81.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E4; 17 53.02 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (83809346..83821762, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (83501917..83514333, complement)

Chromosome 17 - NC_000083.7 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?

COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.
Title: COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.
Deficiency of COX7RP, a mitochondrial supercomplex assembly promoting factor, lowers blood glucose level in mice.
Title: Deficiency of COX7RP, a mitochondrial supercomplex assembly promoting factor, lowers blood glucose level in mice.
COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation.
Title: COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation.
COX7RP promotes oxidative phosphorylation and ATP synthesis.
Title: A stabilizing factor for mitochondrial respiratory supercomplex assembly regulates energy metabolism in muscle.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Gene trapped (1)
Not Applicable (2) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

X80899 (e-PCR)
- UniSTS:125863

RH126096 (e-PCR)
- UniSTS:162808

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in mitochondrial electron transport, cytochrome c to oxygen	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial respirasome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respirasome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of oxidative phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of oxidative phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial respirasome	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial respirasome	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial respiratory chain complex IV	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cytochrome c oxidase subunit 7A-related protein, mitochondrial

Names: cytochrome c oxidase subunit VIIa polypeptide 2-like; cytochrome c oxidase subunit VIIa-related protein; silica-induced gene 81 protein; supercomplex assembly factor I

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_001159529.1 → NP_001153001.1 cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK009614, AK133520, BP769290, BY122624

Consensus CDS

CCDS50194.1

UniProtKB/TrEMBL

E9PZS8, Q3U7R2

Related

ENSMUSP00000131584.2, ENSMUST00000167741.9

Conserved Domains (1) summary

cd00928
Location:55 → 130

Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. 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 ...
NM_009187.3 → NP_033213.1 cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_033213.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK133520, BP769290, BY122624

Consensus CDS

CCDS28995.1

UniProtKB/Swiss-Prot

Q61387

UniProtKB/TrEMBL

Q3U7R2, Q3UDK5

Related

ENSMUSP00000025095.8, ENSMUST00000025095.9

Conserved Domains (1) summary

cd00928
Location:55 → 107

Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. 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 ...