MitoProteome Database

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MT001461

UniProt Annotations

Entry Information

Gene Name	chromosome 12 open reading frame 65
Protein Entry	CL065_HUMAN
UniProt ID	Q9H3J6
Species	Human

Comments

Comment type	Description
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;
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 for translation release factor activity. {ECO:0000305}.
Disease	Combined oxidative phosphorylation deficiency 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. {ECO:0000269\|PubMed:20598281}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Spastic paraplegia 55, autosomal recessive (SPG55) [MIM:615035]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. {ECO:0000269\|PubMed:23188110}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The GGQ domain may interact with the peptidyltransferase center (PTC) of the large ribosomal subunit to trigger peptidyl- tRNA hydrolysis. {ECO:0000269\|PubMed:22821833}.
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. May help rescuing stalled mitoribosomes during translation (By similarity). {ECO:0000250}.
Miscellaneous	Knockdown of C12orf65 in Hela cells results in increased ROS production and apoptosis, leading to inhibition of cell proliferation. {ECO:0000305\|PubMed:22821833}.
Similarity	Belongs to the prokaryotic/mitochondrial release factor family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000269\|PubMed:20186120}.