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Protein basic information

LiverAtlas Protein ID

HuLPr15672

Uniprot ID

CL065_HUMAN

Uniprot Acc

Q9H3J6;Q8WUC6;

Protein name

Probable peptide chain release factor C12orf65, mitochondrial

Comment

FUNCTION:May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion (By similarity).||SUBCELLULAR LOCATION:Mitochondrion.||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H3J6-1; Sequence=Displayed; Name=2; IsoId=Q9H3J6-2; Sequence=VSP 029602, VSP 029603;||DISEASE:Defects in C12orf65 are the cause of combined oxidative phosphorylation deficiency type 7 (COXPD7) [MIM:613559]. A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness.||SIMILARITY:Belongs to the prokaryotic/mitochondrial release factor family.||CAUTION:In contrast to other members of the family, lacks the regions that come into close contact with the mRNA in the ribosomal A-site and determine the STOP codon specificity, suggesting a loss of codon specificity

Subcellular localization

Mitochondrion.

Gene name

chromosome 12 open reading frame 65

Protein sequence

MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTP VQMAGKKDYPALLSLDENELEEQFVKGHGPGGQATNKTS NCVVLKHIPSGIVVKCHQTRSVDQNRKLARKILQEKVDV FYNGENSPVHKEKREAAKKKQERKKRAKETLEKKKLLKE LWESSKKVH

Database cross reference

RefSeq Protein accession:NP_001137377
RefSeq Protein gi:219879802

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;French Liver;Human Fetal Liver;

Ontology annotation

GO-C

GO:0005739;C:mitochondrion;NAS:UniProtKB.

GO-F

GO:0003747;F:translation release factor activity;IEA:InterPro.