InnateDB Protein
|
IDBP-86829.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
C10orf2
|
Protein Name
|
chromosome 10 open reading frame 2
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000359248
|
InnateDB Gene
|
IDBG-86825 (C10orf2)
|
Protein Structure
|
|
Function |
Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals. {ECO:0000269PubMed:15167897}.
|
Subcellular Localization |
Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269PubMed:11431692}. Note=Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.
|
Disease Associations |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269PubMed:11431692, ECO:0000269PubMed:12163192, ECO:0000269PubMed:12921794, ECO:0000269PubMed:16639411, ECO:0000269PubMed:17614277, ECO:0000269PubMed:18396044, ECO:0000269PubMed:18575922, ECO:0000269PubMed:19353676, ECO:0000269PubMed:19428252, ECO:0000269PubMed:20479361, ECO:0000269PubMed:20880070}. Note=The disease is caused by mutations affecting the gene represented in this entry.Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood. {ECO:0000269PubMed:15668446}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245]: A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi- organ failure is present. {ECO:0000269PubMed:16135556, ECO:0000269PubMed:17722119, ECO:0000269PubMed:17921179, ECO:0000269PubMed:19853444, ECO:0000269PubMed:22353293}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43. {ECO:0000269PubMed:11431692, ECO:0000269PubMed:15509589}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
|
Protein-Protein |
8
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR007694
DNA helicase, DnaB-like, C-terminal
IPR014774
Circadian clock protein KaiC/DNA repair protein RadA
IPR027417
P-loop containing nucleoside triphosphate hydrolase
|
PFAM |
PF03796
PF06745
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q96RR1
|
PhosphoSite |
PhosphoSite-Q96RR1
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
56652
|
UniGene |
Hs.22678
|
RefSeq |
NP_001157286
|
HUGO |
HGNC:1160
|
OMIM |
606075
|
CCDS |
CCDS53570
|
HPRD |
05830
|
IMGT |
|
EMBL |
AF292004
AF292005
AL133215
BC013349
BX640829
CH471066
EU543650
|
GenPept |
AAH13349
AAK69558
AAK69559
ACB21043
CAE45905
CAI10924
CAI10925
EAW49794
|
|
|