InnateDB Protein
|
IDBP-63336.6
|
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
|
ENSP00000253233
|
InnateDB Gene
|
IDBG-63334 (C12orf65)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0003747
|
translation release factor activity
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000352
Peptide chain release factor class I/class II
|
PFAM |
PF00472
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9H3J6
|
PhosphoSite |
PhosphoSite-Q9H3J6
|
TrEMBL |
F5H5V8
|
UniProt Splice Variant |
|
Entrez Gene |
91574
|
UniGene |
Hs.639036
|
RefSeq |
NP_689482
|
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
|
|
|