Version 5.4
Homo sapiens Protein: C12orf65
Summary
InnateDB Protein IDBP-384797.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C12orf65
Protein Name chromosome 12 open reading frame 65
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000390647
InnateDB Gene IDBG-63334 (C12orf65)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Mitochondrion {ECO:0000269PubMed:20186120}.
Disease Associations 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:0000269PubMed:20598281}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:23188110}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003747 translation release factor activity
Biological Process
GO:0006415 translational termination
GO:0008219 cell death
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR000352 Peptide chain release factor class I/class II
PFAM PF00472
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H3J6
PhosphoSite PhosphoSite-Q9H3J6
TrEMBL F5H5V8
UniProt Splice Variant
Entrez Gene 91574
UniGene Hs.639036
RefSeq NP_001181924
HUGO HGNC:26784
OMIM 613541
CCDS CCDS9244
HPRD 08791
IMGT
EMBL AC068768 AC073857 AF061733 AK095982 BC018145 BC020885 BC062329 CH471054
GenPept AAG43144 AAH18145 AAH20885 AAH62329 BAC04665 EAW98395 EAW98396

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca