COA3 (cytochrome c oxidase assembly factor 3)

2017-08-01  

Identity

HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
CCDC56,COX25,HSPC009,MC4DN14,MITRAC12

Other Information

Locus ID:

NCBI: 28958
MIM: 614775
HGNC: 24990
Ensembl: ENSG00000183978

Variants:

dbSNP: 28958
ClinVar: 28958
TCGA: ENSG00000183978
COSMIC: COA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183978ENST00000328434Q9Y2R0
ENSG00000183978ENST00000328434A0A024R1X4
ENSG00000183978ENST00000586680K7EPV0

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232601402012MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.49
223568262012Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.32
233622682013hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.15
256040842015Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.15
263582952015COX assembly factor ccdc56 regulates mitochondrial morphology by affecting mitochondrial recruitment of Drp1.4
277913552016Human COA3 Is an Oligomeric Highly Flexible Protein in Solution.1

Citation

Dessen P

COA3 (cytochrome c oxidase assembly factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56952/coa3