4xHC-COA6 [mitochondrial intermembrane space]

Stable Identifier
R-HSA-8874958
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial intermembrane space
Synonyms
Cytochrome c oxidase assembly factor 6 homolog, COA6_HUMAN
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
25959673 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies

Wissel, M, Deckers, M, Vögtle, FN, Juris, L, Bareth, B, Rehling, P, Leary, SC, Dudek, J, Dennerlein, S, Pacheu-Grau, D

Cell Metab. 2015
25339201 Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

Nijtmans, LG, Distelmaier, F, Rodenburg, RJ, Mayatepek, E, P van den Heuvel, L, Al-Shamsi, A, Baertling, F, Hertecant, JL, Smeitink, JA, A M van den Brand, M

Hum. Mutat. 2015
External Reference Information
External Reference
UniProt:Q5JTJ3 COA6
Gene Names
COA6, C1orf31
Chain
initiator methionine:, chain:1-125
Reference Genes
BioGPS Gene:388753 COA6
COSMIC (genes):COA6 COA6
CTD Gene:388753 COA6
dbSNP Gene:388753 COA6
ENSEMBL:ENSG00000168275 COA6
ENSEMBL_homo_sapiens_GENE:ENSG00000168275.16 COA6
HGNC:18025 COA6
KEGG Gene (Homo sapiens):388753 COA6
Monarch:388753 COA6
NCBI Gene:388753 COA6
OMIM:614772 COA6
UCSC:Q5JTJ3 COA6
Reference Transcript
Other Identifiers
11719755_a_at
11719756_s_at
16678907
225638_PM_at
225638_at
2386120
2386122
2386124
2386126
2386128
2386130
2386132
2386134
2386136
2386138
388753
45806_at
7910630
A_23_P63459
GE733327
GE86179
GO:0003723
GO:0005507
GO:0005515
GO:0005634
GO:0005654
GO:0005739
GO:0005758
GO:0005886
GO:0006091
GO:0008535
GO:0042774
GO:0042775
GO:0043226
GO:0045277
GO:0065003
HMNXSV003040058
Hs.5250.0.A1_3p_at
ILMN_1681741
PH_hs_0038890
TC01001934.hg
TC01005121.hg
Participates
as a candidate of
Other forms of this molecule
COA6 [mitochondrial intermembrane space]
Modified Residues
Name
Intra-chain Crosslink via L-cystine (cross-link) at 58 and 90
Coordinate
58
PsiMod Name
L-cystine (cross-link)
PsiMod Definition
A protein modification that effectively cross-links two L-cysteine residues to form L-cystine.
Name
Intra-chain Crosslink via L-cystine (cross-link) at 68 and 79
Coordinate
68
PsiMod Name
L-cystine (cross-link)
PsiMod Definition
A protein modification that effectively cross-links two L-cysteine residues to form L-cystine.
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q9NPB3 CABP2  1 0.556 3
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