COA8 cytochrome c oxidase assembly factor 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COA8provided by HGNC
Official Full Name: cytochrome c oxidase assembly factor 8provided by HGNC
Primary source: HGNC:HGNC:20492
See related: Ensembl:ENSG00000256053 MIM:616003; AllianceGenome:HGNC:20492
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: APOP; APOP1; APOPT1; MC4DN17; C14orf153
Summary: This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression: Ubiquitous expression in testis (RPKM 10.4), fat (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.33

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (103562960..103590899)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (97799005..97826938)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (104029297..104057236)

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?

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Title: Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
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

Associated conditions

Description	Tests
Mitochondrial complex 4 deficiency, nuclear type 17 MedGen: C5436718 OMIM: 619061 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of mitochondrial apoptogenic 1 (APOPT1, C14orf153) in human B cells	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

D11S2921 (e-PCR)
- UniSTS:152074

RH94158 (e-PCR)
- UniSTS:88594

GDB:434012 (e-PCR)
- UniSTS:157204

PMC156606P1 (e-PCR)
- UniSTS:271408

RH41848 (e-PCR)
- UniSTS:81714

G36166 (e-PCR)
- UniSTS:66876

RH48201 (e-PCR)
- UniSTS:27453

G35465 (e-PCR)
- UniSTS:26732

D1S1423 (e-PCR)
- UniSTS:149619

G35510 (e-PCR)
- UniSTS:44150

L18441 (e-PCR)
- UniSTS:71348

G36164 (e-PCR)
- UniSTS:82613

L17971 (e-PCR)
- UniSTS:43966

RH69467 (e-PCR)
- UniSTS:54212

D3S1673 (e-PCR)
- UniSTS:148450

G35514 (e-PCR)
- UniSTS:52718

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial cytochrome c oxidase assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial cytochrome c oxidase assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to reactive oxygen species	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in matrix side of mitochondrial inner membrane	IDA Inferred from Direct Assay 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

General protein information

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Preferred Names: cytochrome c oxidase assembly factor 8

Names: UPF0671 protein C14orf153; apoptogenic 1, mitochondrial

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_041786.1 RefSeqGene

Range

5004..32940

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001302652.2 → NP_001289581.2 cytochrome c oxidase assembly factor 8 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a shorter 3' UTR, and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.

Source sequence(s)

AL139300

Conserved Domains (1) summary

pfam10231
Location:54 → 159

DUF2315; Uncharacterized conserved protein (DUF2315)
NM_001302653.2 → NP_001289582.2 cytochrome c oxidase assembly factor 8 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has a shorter 3' UTR, and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a distinct, shorter C-terminus than isoform 1.

Source sequence(s)

AL139300

Consensus CDS

CCDS91944.1

UniProtKB/TrEMBL

G3V4L6

Related

ENSP00000451874.2, ENST00000556253.6

Conserved Domains (1) summary

pfam10231
Location:53 → 127

DUF2315; Uncharacterized conserved protein (DUF2315)
NM_001302654.2 → NP_001289583.2 cytochrome c oxidase assembly factor 8 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks multiple 3' exons and contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct, shorter C-terminus than isoform 1.

Source sequence(s)

AL139300

UniProtKB/TrEMBL

H0YJK3

Related

ENSP00000451703.1, ENST00000495778.1

Conserved Domains (1) summary

pfam10231
Location:54 → 127

DUF2315; Uncharacterized conserved protein (DUF2315)
NM_001370595.2 → NP_001357524.1 cytochrome c oxidase assembly factor 8 isoform 1

Status: REVIEWED

Description

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

Source sequence(s)

AL139300

Consensus CDS

CCDS9983.3

UniProtKB/Swiss-Prot

H7C2Z1, Q53G28, Q96IL0

UniProtKB/TrEMBL

A0A6Q8JUI0

Related

ENSP00000386485.3, ENST00000409074.8

Conserved Domains (1) summary

pfam10231
Location:54 → 181

DUF2315; Uncharacterized conserved protein (DUF2315)

RNA

NR_126431.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains an alternate internal exon and has a shorter 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL139300
NR_126432.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an internal exon and has a shorter 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL139300