Coa8 cytochrome c oxidase assembly factor 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Coa8provided by MGI
Official Full Name: cytochrome c oxidase assembly factor 8provided by MGI
Primary source: MGI:MGI:1915270
See related: Ensembl:ENSMUSG00000037787 AllianceGenome:MGI:1915270
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: Apop1; Apop-1; Apopt1; 1700081D05Rik; 2810002N01Rik
Summary: Involved in several processes, including mitochondrial cytochrome c oxidase assembly; positive regulation of cytochrome-c oxidase activity; and protein stabilization. Acts upstream of or within intrinsic apoptotic signaling pathway. Located in mitochondrion. Human ortholog(s) of this gene implicated in cytochrome-c oxidase deficiency disease. Orthologous to human COA8 (cytochrome c oxidase assembly factor 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 50.8), duodenum adult (RPKM 14.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 F1; 12 61.11 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (111679394..111721491)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (111713268..111755057)

Chromosome 12 - NC_000078.7 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?

The authors generated an Apopt1 knockout mouse model which shows impaired motor skills, e.g., decreased motor coordination and endurance, associated with reduced COX activity and levels in multiple tissues.
Title: APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.
These data indicate that the inhibition of Apop-1-induced death by IGF-1 is mediated by the activation of the PI3K/Akt signaling pathway.
Title: Akt activation prevents Apop-1-induced death of cells.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial cytochrome c oxidase assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial cytochrome c oxidase assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of reactive oxygen species biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytochrome-c oxidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytochrome-c oxidase activity	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in response to reactive oxygen species	IDA Inferred from Direct Assay more info	PubMed
involved_in response to reactive oxygen species	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in matrix side of mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cytochrome c oxidase assembly factor 8

Names: UPF0671 protein C14orf153 homolog; apoptogenic protein 1, mitochondrial; apoptogenic, mitochondrial 1

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_001163388.1 → NP_001156860.1 cytochrome c oxidase assembly factor 8 isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

AC152065, AK002873, AK012648

Consensus CDS

CCDS49181.1

UniProtKB/TrEMBL

Q8CDX7

Related

ENSMUSP00000131169.3, ENSMUST00000163220.10

Conserved Domains (1) summary

pfam10231
Location:55 → 160

DUF2315; Uncharacterized conserved protein (DUF2315)
NM_026511.2 → NP_080787.1 cytochrome c oxidase assembly factor 8 isoform 2

See identical proteins and their annotated locations for NP_080787.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AK002873, AK012648, BY392793

Consensus CDS

CCDS26186.1

UniProtKB/Swiss-Prot

Q9CQW7

UniProtKB/TrEMBL

Q8CDX7

Related

ENSMUSP00000038865.6, ENSMUST00000040519.12

Conserved Domains (1) summary

pfam10231
Location:55 → 182

DUF2315; Uncharacterized conserved protein (DUF2315)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

111679394..111721491

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516179.5 → XP_006516242.1 cytochrome c oxidase assembly factor 8 isoform X2

UniProtKB/TrEMBL

Q8CDX7

Conserved Domains (1) summary

pfam10231
Location:55 → 160

DUF2315; Uncharacterized conserved protein (DUF2315)
XM_006516178.5 → XP_006516241.1 cytochrome c oxidase assembly factor 8 isoform X1

UniProtKB/TrEMBL

Q8CDX7

Conserved Domains (1) summary

pfam10231
Location:55 → 160

DUF2315; Uncharacterized conserved protein (DUF2315)