InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: C10orf2

Summary

InnateDB Protein

IDBP-86827.6

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

ENSP00000309595

InnateDB Gene

IDBG-86825 (C10orf2)

Protein Structure

UniProt Annotation

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

Interactions

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

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0003678	DNA helicase activity
GO:0003697	single-stranded DNA binding
GO:0005524	ATP binding
GO:0043139	5'-3' DNA helicase activity

Biological Process

GO:0006260	DNA replication
GO:0006264	mitochondrial DNA replication
GO:0006268	DNA unwinding involved in DNA replication
GO:0006390	transcription from mitochondrial promoter
GO:0008219	cell death
GO:0034214	protein hexamerization
GO:0051260	protein homooligomerization

Cellular Component

GO:0005739	mitochondrion
GO:0042645	mitochondrial nucleoid

Protein Structure and Domains

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

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96RR1

PhosphoSite