UniProtKB - Q96IL0 (COA8_HUMAN)
Cytochrome c oxidase assembly factor 8
COA8
Functioni
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.
2 PublicationsCaution
GO - Biological processi
- intrinsic apoptotic signaling pathway Source: InterPro
- mitochondrial cytochrome c oxidase assembly Source: UniProtKB
- negative regulation of reactive oxygen species biosynthetic process Source: UniProtKB
- positive regulation of cytochrome-c oxidase activity Source: UniProtKB
- protein stabilization Source: UniProtKB
- response to reactive oxygen species Source: UniProtKB
Keywordsi
Biological process | Apoptosis |
Enzyme and pathway databases
PathwayCommonsi | Q96IL0 |
SignaLinki | Q96IL0 |
Names & Taxonomyi
Protein namesi | Recommended name: Cytochrome c oxidase assembly factor 8CuratedShort name: COA8Curated Alternative name(s): Apoptogenic protein 1, mitochondrial Short name: APOP-1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20492, COA8 |
MIMi | 616003, gene |
neXtProti | NX_Q96IL0 |
VEuPathDBi | HostDB:ENSG00000256053 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 2 Publications; Peripheral membrane protein 1 Publication; Matrix side 1 Publication
Mitochondrion
- matrix side of mitochondrial inner membrane Source: UniProtKB
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Mitochondrial complex IV deficiency, nuclear type 17 (MC4DN17)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082029 | 79 – 206 | Missing in MC4DN17; low steady-state levels of COX subunits and reduced levels of fully assembled COX; highly decreased COX complex IV activity and decreased COX complex II activity in muscle. 2 PublicationsAdd BLAST | 128 | |
Natural variantiVAR_082030 | 118 | F → S in MC4DN17; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777786Ensembl. | 1 | |
Natural variantiVAR_082031 | 124 | Missing in MC4DN17. 1 PublicationCorresponds to variant dbSNP:rs587777787Ensembl. | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 84334 |
MalaCardsi | COA8 |
MIMi | 619061, phenotype |
OpenTargetsi | ENSG00000256053 |
Orphaneti | 436271, Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy |
PharmGKBi | PA134961925 |
Miscellaneous databases
Pharosi | Q96IL0, Tdark |
Genetic variation databases
BioMutai | APOPT1 |
DMDMi | 363548522 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 39 | Mitochondrion1 PublicationAdd BLAST | 39 | |
ChainiPRO_0000019559 | 40 – 206 | Cytochrome c oxidase assembly factor 8Add BLAST | 167 |
Post-translational modificationi
Keywords - PTMi
Ubl conjugationProteomic databases
EPDi | Q96IL0 |
jPOSTi | Q96IL0 |
MassIVEi | Q96IL0 |
MaxQBi | Q96IL0 |
PaxDbi | Q96IL0 |
PeptideAtlasi | Q96IL0 |
PRIDEi | Q96IL0 |
ProteomicsDBi | 76839 |
PTM databases
iPTMneti | Q96IL0 |
PhosphoSitePlusi | Q96IL0 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000256053, Expressed in right testis and 213 other tissues |
ExpressionAtlasi | Q96IL0, baseline and differential |
Genevisiblei | Q96IL0, HS |
Organism-specific databases
HPAi | ENSG00000256053, Tissue enhanced (skeletal) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 124058, 12 interactors |
IntActi | Q96IL0, 1 interactor |
STRINGi | 9606.ENSP00000386485 |
Miscellaneous databases
RNActi | Q96IL0, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q96IL0 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG4094, Eukaryota |
GeneTreei | ENSGT00390000008212 |
HOGENOMi | CLU_118274_0_0_1 |
InParanoidi | Q96IL0 |
OrthoDBi | 1410150at2759 |
PhylomeDBi | Q96IL0 |
TreeFami | TF315168 |
Family and domain databases
InterProi | View protein in InterPro IPR018796, COA8 |
PANTHERi | PTHR31107, PTHR31107, 1 hit |
Pfami | View protein in Pfam PF10231, DUF2315, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLPCAAGARG RGAMVVLRAG KKTFLPPLCR AFACRGCQLA PERGAERRDT
60 70 80 90 100
APSGVSRFCP PRKSCHDWIG PPDKYSNLRP VHFYIPENES PLEQKLRKLR
110 120 130 140 150
QETQEWNQQF WANQNLTFSK EKEEFIHSRL KTKGLGLRTE SGQKATLNAE
160 170 180 190 200
EMADFYKEFL SKNFQKHMYY NRDWYKRNFA ITFFMGKVAL ERIWNKLKQK
QKKRSN
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A6Q8JUI0 | A0A6Q8JUI0_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 193 | Annotation score: | ||
H0YJK3 | H0YJK3_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 108 | Annotation score: | ||
H0YJ38 | H0YJ38_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 57 | Annotation score: | ||
G3V4L6 | G3V4L6_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 177 | Annotation score: | ||
A0A0U1RR29 | A0A0U1RR29_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 132 | Annotation score: | ||
A0A0U1RQS9 | A0A0U1RQS9_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 55 | Annotation score: | ||
A0A0U1RQK3 | A0A0U1RQK3_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 76 | Annotation score: | ||
A0A5H1ZRQ9 | A0A5H1ZRQ9_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 112 | Annotation score: | ||
H0YJM4 | H0YJM4_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 72 | Annotation score: | ||
H7BZ67 | H7BZ67_HUMAN | Cytochrome c oxidase assembly facto... | COA8 | 46 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 191 | E → G in CB136383 (PubMed:16712791).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023000 | 27 | P → A1 PublicationCorresponds to variant dbSNP:rs2274268Ensembl. | 1 | |
Natural variantiVAR_082029 | 79 – 206 | Missing in MC4DN17; low steady-state levels of COX subunits and reduced levels of fully assembled COX; highly decreased COX complex IV activity and decreased COX complex II activity in muscle. 2 PublicationsAdd BLAST | 128 | |
Natural variantiVAR_033745 | 88 | N → S. Corresponds to variant dbSNP:rs35960830Ensembl. | 1 | |
Natural variantiVAR_082030 | 118 | F → S in MC4DN17; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777786Ensembl. | 1 | |
Natural variantiVAR_082031 | 124 | Missing in MC4DN17. 1 PublicationCorresponds to variant dbSNP:rs587777787Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_060246 | 121 – 125 | EKEEF → VRKQH in isoform 2. | 5 | |
Alternative sequenceiVSP_060247 | 126 – 206 | Missing in isoform 2. Add BLAST | 81 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL139300 Genomic DNA No translation available. CB136383 mRNA No translation available. AK223092 mRNA Translation: BAD96812.1 Different initiation. AK223103 mRNA Translation: BAD96823.1 Different initiation. BC007412 mRNA Translation: AAH07412.1 Different initiation. |
RefSeqi | NP_001289581.1, NM_001302652.1 NP_001289582.1, NM_001302653.1 NP_115750.2, NM_032374.4 |
Genome annotation databases
Ensembli | ENST00000674165.1; ENSP00000501341.1; ENSG00000256053.9 |
GeneIDi | 84334 |
KEGGi | hsa:84334 |
UCSCi | uc010tyc.3, human [Q96IL0-1] uc059frt.1, human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL139300 Genomic DNA No translation available. CB136383 mRNA No translation available. AK223092 mRNA Translation: BAD96812.1 Different initiation. AK223103 mRNA Translation: BAD96823.1 Different initiation. BC007412 mRNA Translation: AAH07412.1 Different initiation. |
RefSeqi | NP_001289581.1, NM_001302652.1 NP_001289582.1, NM_001302653.1 NP_115750.2, NM_032374.4 |
3D structure databases
AlphaFoldDBi | Q96IL0 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124058, 12 interactors |
IntActi | Q96IL0, 1 interactor |
STRINGi | 9606.ENSP00000386485 |
PTM databases
iPTMneti | Q96IL0 |
PhosphoSitePlusi | Q96IL0 |
Genetic variation databases
BioMutai | APOPT1 |
DMDMi | 363548522 |
Proteomic databases
EPDi | Q96IL0 |
jPOSTi | Q96IL0 |
MassIVEi | Q96IL0 |
MaxQBi | Q96IL0 |
PaxDbi | Q96IL0 |
PeptideAtlasi | Q96IL0 |
PRIDEi | Q96IL0 |
ProteomicsDBi | 76839 |
Protocols and materials databases
Antibodypediai | 66570, 39 antibodies from 11 providers |
DNASUi | 84334 |
Genome annotation databases
Ensembli | ENST00000674165.1; ENSP00000501341.1; ENSG00000256053.9 |
GeneIDi | 84334 |
KEGGi | hsa:84334 |
UCSCi | uc010tyc.3, human [Q96IL0-1] uc059frt.1, human |
Organism-specific databases
CTDi | 84334 |
DisGeNETi | 84334 |
GeneCardsi | COA8 |
HGNCi | HGNC:20492, COA8 |
HPAi | ENSG00000256053, Tissue enhanced (skeletal) |
MalaCardsi | COA8 |
MIMi | 616003, gene 619061, phenotype |
neXtProti | NX_Q96IL0 |
OpenTargetsi | ENSG00000256053 |
Orphaneti | 436271, Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy |
PharmGKBi | PA134961925 |
VEuPathDBi | HostDB:ENSG00000256053 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4094, Eukaryota |
GeneTreei | ENSGT00390000008212 |
HOGENOMi | CLU_118274_0_0_1 |
InParanoidi | Q96IL0 |
OrthoDBi | 1410150at2759 |
PhylomeDBi | Q96IL0 |
TreeFami | TF315168 |
Enzyme and pathway databases
PathwayCommonsi | Q96IL0 |
SignaLinki | Q96IL0 |
Miscellaneous databases
BioGRID-ORCSi | 84334, 11 hits in 1035 CRISPR screens |
ChiTaRSi | APOPT1, human |
GenomeRNAii | 84334 |
Pharosi | Q96IL0, Tdark |
PROi | PR:Q96IL0 |
RNActi | Q96IL0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000256053, Expressed in right testis and 213 other tissues |
ExpressionAtlasi | Q96IL0, baseline and differential |
Genevisiblei | Q96IL0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR018796, COA8 |
PANTHERi | PTHR31107, PTHR31107, 1 hit |
Pfami | View protein in Pfam PF10231, DUF2315, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | COA8_HUMAN | |
Accessioni | Q96IL0Primary (citable) accession number: Q96IL0 Secondary accession number(s): H7C2Z1, Q53G28 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2005 |
Last sequence update: | December 14, 2011 | |
Last modified: | May 25, 2022 | |
This is version 135 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families