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] See more...

Aliases for COA8 Gene

Aliases for COA8 Gene

  • Cytochrome C Oxidase Assembly Factor 8 2 3 4 5
  • Apoptogenic 1, Mitochondrial 2 3
  • C14orf153 3 4
  • APOPT1 3 4
  • APOP1 3 4
  • Apoptogenic Protein 1, Mitochondrial 4
  • Chromosome 14 Open Reading Frame 153 2
  • UPF0671 Protein C14orf153 3
  • Apoptogenic Protein 1 2
  • Apoptogenic 1 2
  • APOP-1 4
  • APOP 3

External Ids for COA8 Gene

Previous HGNC Symbols for COA8 Gene

  • C14orf153
  • APOPT1

Previous GeneCards Identifiers for COA8 Gene

  • GC14P103769
  • GC14P103959

Summaries for COA8 Gene

Entrez Gene Summary for COA8 Gene

  • 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]

GeneCards Summary for COA8 Gene

COA8 (Cytochrome C Oxidase Assembly Factor 8) is a Protein Coding gene. Diseases associated with COA8 include Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy and Mitochondrial Complex Iv Deficiency.

UniProtKB/Swiss-Prot Summary for COA8 Gene

  • Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain.

Additional gene information for COA8 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COA8 Gene

Genomics for COA8 Gene

GeneHancer (GH) Regulatory Elements for COA8 Gene

Promoters and enhancers for COA8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J103560 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 532.8 -0.3 -256 3.8 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 PHF8 ZFX ZNF10 COA8 KLC1 BAG5 ENSG00000256500 NONHSAG016019.2 CKB ENSG00000258851
GH14J103564 Promoter 0.3 Ensembl 507.3 +1.9 1944 0.2 COA8 ENSG00000256500 KLC1 RF00015-025 NONHSAG016019.2 RNU4-68P
GH14J103568 Enhancer 0.6 Ensembl ENCODE 32.5 +5.7 5744 3 ZNF341 ZNF263 ZNF660 SP7 RF00015-025 RNU4-68P COA8 KLC1 ENSG00000256500 hsa-miR-5095-142 NONHSAG016019.2
GH14J103523 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.9 -35.7 -35685 6.8 HNRNPK FOXK2 ZNF217 ZSCAN5C SIN3A MYC POLR2G USF1 RBAK PHF8 TRMT61A CKB ENSG00000260285 lnc-TRMT61A-1 MARK3 KLC1 ZFYVE21 COA8
GH14J103623 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 +64.6 64561 7.4 ZNF217 EP300 TCF12 MYC NRF1 POLR2G GTF2E2 JUND PHF8 FOS KLC1 LOC105370688 lnc-BAG5-2 ENSG00000202275 XRCC3 ZFYVE21 BAG5 COA8 lnc-BAG5-1 ENSG00000256500
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COA8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COA8

Genomic Locations for COA8 Gene

Genomic Locations for COA8 Gene
chr14:103,562,957-103,607,523
(GRCh38/hg38)
Size:
44,567 bases
Orientation:
Plus strand
chr14:104,029,299-104,073,860
(GRCh37/hg19)
Size:
44,562 bases
Orientation:
Plus strand

Genomic View for COA8 Gene

Genes around COA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COA8 Gene

Proteins for COA8 Gene

  • Protein details for COA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IL0-COA8_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly factor 8
    Protein Accession:
    Q96IL0
    Secondary Accessions:
    • H7C2Z1
    • Q53G28

    Protein attributes for COA8 Gene

    Size:
    206 amino acids
    Molecular mass:
    24153 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: Protein may not fold correctly and may be rapidly degraded.
    SequenceCaution:
    • Sequence=AAH07412.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD96812.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD96823.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for COA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COA8 Gene

Post-translational modifications for COA8 Gene

  • N-terminal mitochondrial targeting sequence is cleaved from the mature protein once in the mitochondrion.
  • In normal conditions, the cytoplasmic precursor protein is rapidly degraded by the ubiquitination-proteasome system (UPS). Oxidative stress induces protein stabilization and import into mitochondria where it protects COX from degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COA8 Gene

Domains & Families for COA8 Gene

Gene Families for COA8 Gene

Protein Domains for COA8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COA8 Gene

GenScript: Design optimal peptide antigens:
  • UPF0671 protein C14orf153 (CN153_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96IL0

UniProtKB/Swiss-Prot:

COA8_HUMAN :
  • Belongs to the COA8 family.
Family:
  • Belongs to the COA8 family.
genes like me logo Genes that share domains with COA8: view

Function for COA8 Gene

Molecular function for COA8 Gene

UniProtKB/Swiss-Prot Function:
Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain.
UniProtKB/Swiss-Prot Induction:
In conditions of increased oxidative stress, the protein is stabilized, increasing its mature intramitochondrial form and thereby protecting COX from oxidatively induced degradation.

Phenotypes From GWAS Catalog for COA8 Gene

genes like me logo Genes that share phenotypes with COA8: view

Human Phenotype Ontology for COA8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for COA8 Gene

Localization for COA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COA8 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COA8 gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for COA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IBA 25175347
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0099617 matrix side of mitochondrial inner membrane IDA 30552096
genes like me logo Genes that share ontologies with COA8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COA8 Gene

Pathways & Interactions for COA8 Gene

PathCards logo

SuperPathways for COA8 Gene

No Data Available

Interacting Proteins for COA8 Gene

;

Gene Ontology (GO) - Biological Process for COA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species IDA 30552096
GO:0006915 apoptotic process IEA --
GO:0033617 mitochondrial respiratory chain complex IV assembly IMP,IEA 25175347
GO:0034393 positive regulation of smooth muscle cell apoptotic process IEA --
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA,IBA 21873635
genes like me logo Genes that share ontologies with COA8: view

No data available for Pathways by source and SIGNOR curated interactions for COA8 Gene

Drugs & Compounds for COA8 Gene

No Compound Related Data Available

Transcripts for COA8 Gene

mRNA/cDNA for COA8 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COA8

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COA8 Gene

No ASD Table

Relevant External Links for COA8 Gene

GeneLoc Exon Structure for
COA8

Expression for COA8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COA8

SOURCE GeneReport for Unigene cluster for COA8 Gene:

Hs.598441

mRNA Expression by UniProt/SwissProt for COA8 Gene:

Q96IL0-COA8_HUMAN
Tissue specificity: Expressed in fibroblasts.

Phenotype-based relationships between genes and organs from Gene ORGANizer for COA8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for COA8 Gene

Orthologs for COA8 Gene

This gene was present in the common ancestor of animals.

Orthologs for COA8 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia APOPT1 31 30
  • 90.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APOPT1 31 30
  • 89.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apopt1 30
  • 80.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APOPT1 31
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apopt1 17 31 30
  • 79.61 (n)
oppossum
(Monodelphis domestica)
Mammalia APOPT1 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves APOPT1 31 30
  • 58.8 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apopt1 30
  • 64.27 (n)
zebrafish
(Danio rerio)
Actinopterygii apopt1 31 30
  • 60.36 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14806 31
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y39B6A.34 31
  • 32 (a)
OneToOne
Species where no ortholog for COA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COA8 Gene

ENSEMBL:
Gene Tree for COA8 (if available)
TreeFam:
Gene Tree for COA8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COA8: view image

Paralogs for COA8 Gene

No data available for Paralogs for COA8 Gene

Variants for COA8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COA8 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
638510 Likely Pathogenic: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 103,563,036(+) T/TC FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1057522217 Likely Benign: not specified 103,587,262(+) A/G INTRON_VARIANT
rs114895750 Uncertain Significance: not provided 103,587,371(+) G/A INTRON_VARIANT
rs1566988219 Uncertain Significance: not provided 103,590,221(+) G/GTTTT FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs182242924 Likely Benign: not specified 103,587,383(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for COA8 Gene

Structural Variations from Database of Genomic Variants (DGV) for COA8 Gene

Variant ID Type Subtype PubMed ID
esv3635599 CNV gain 21293372
nsv1054574 CNV loss 25217958
nsv1122931 CNV deletion 24896259
nsv1131165 CNV deletion 24896259
nsv566022 CNV loss 21841781
nsv832883 CNV loss 17160897

Variation tolerance for COA8 Gene

Residual Variation Intolerance Score: 46.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.85; 74.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COA8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COA8 Gene

Disorders for COA8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for COA8 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search COA8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COA8_HUMAN
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269 PubMed:25175347, ECO:0000269 PubMed:29577824, ECO:0000269 PubMed:30552096}. Note=The disease is caused by mutations affecting the gene represented in this entry. Patients present in late infancy or early childhood with evidence of complex IV deficiency, but the phenotype varies widely. Some patients have episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. Some never develop neurologic signs. Brain imaging show a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilizes or even improves over time. {ECO:0000269 PubMed:25175347}.
genes like me logo Genes that share disorders with COA8: view

No data available for Genatlas and External Links for COA8 Gene

Publications for COA8 Gene

  1. APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. (PMID: 30552096) Signes A … Zeviani M (EMBO molecular medicine 2019) 2 3 4 54
  2. Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster. (PMID: 31555154) Brischigliaro M … De Pittà C (Frontiers in physiology 2019) 2 3 54
  3. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. (PMID: 25175347) Melchionda L … Zeviani M (American journal of human genetics 2014) 3 4 54
  4. Akt activation prevents Apop-1-induced death of cells. (PMID: 18977203) Sun X … Rakugi H (Biochemical and biophysical research communications 2008) 2 3 54
  5. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang AG … Kim NS (Biochemical and biophysical research communications 2006) 3 4 54

Products for COA8 Gene

Sources for COA8 Gene