SSBP1

SSBP is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]).[supplied by OMIM

Full Name

single-stranded DNA binding protein 1

Function

Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA) (PubMed:21953457, PubMed:23290262, PubMed:31550240).
In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays a crucial role during mtDNA replication by stimulating the activity of the replisome components POLG and TWNK at the replication fork (PubMed:21953457, PubMed:12975372, PubMed:26446790, PubMed:15167897, PubMed:31550240).
Promotes the activity of the gamma complex polymerase POLG, largely by organizing the template DNA and eliminating secondary structures to favor ss-DNA conformations that facilitate POLG activity (PubMed:26446790, PubMed:21953457, PubMed:31550240).
In addition it is able to promote the 5'-3' unwinding activity of the mtDNA helicase TWNK (PubMed:12975372).
May also function in mtDNA repair (PubMed:23290262).

Biological Process

Biological Process DNA unwinding involved in DNA replicationManual Assertion Based On ExperimentIDA:FlyBase
Biological Process mitochondrial DNA replicationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process mitochondrion morphogenesisIEA:Ensembl
Biological Process positive regulation of DNA helicase activityManual Assertion Based On ExperimentIDA:FlyBase
Biological Process positive regulation of helicase activityManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of mitochondrial DNA replicationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process protein homotetramerizationManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Mitochondrion
Mitochondrion matrix, mitochondrion nucleoid

Involvement in disease

Optic atrophy 13 with retinal and foveal abnormalities (OPA13):
An autosomal dominant disease characterized by visual impairment in association with bilateral optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. Many OPA13 patients also exhibit retinal pigmentary defects, attenuated retinal vasculature, macular dystrophy, and foveopathy. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure.