COA6 [mitochondrial intermembrane space]

Stable Identifier
R-HSA-8874929
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
25339201 Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

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

Hum. Mutat. 2015
25959673 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies

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

Cell Metab. 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
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
0007050575
11719755_a_at
11719756_s_at
16678907
225638_at
2386120
2386122
2386124
2386126
2386128
2386130
2386132
2386134
2386136
2386138
388753
45806_at
7910630
A_23_P63459
GE733327
GE86179
GO:0003674
GO:0003723
GO:0005507
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0005758
GO:0005886
GO:0006091
GO:0008150
GO:0008535
GO:0022607
GO:0042774
GO:0043167
GO:0043226
GO:0065003
Hs.5250.0.A1_3p_at
ILMN_1681741
PH_hs_0038890
TC01001934.hg
TC01005121.hg
Participant Of
hasCandidate
Other forms of this molecule
4xHC-COA6 [mitochondrial intermembrane space]
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Orphanet
PDB
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