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Aliases | SSBP1 , Mt-SSB, SOSS-B1, SSBP, mtSSB, single stranded DNA binding protein 1, OPA13 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 600439 MGI: 1920040 HomoloGene: 74462 GeneCards: SSBP1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Single-stranded DNA-binding protein, mitochondrial is a protein that in humans is encoded by the SSBP1 gene. [5] [6]
SSBP 1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995).[supplied by OMIM] [6]
Nuclear respiratory factor 1, also known as Nrf1, Nrf-1, NRF1 and NRF-1, encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternate transcriptional splice variants, which encode the same protein, have been characterized. Additional variants encoding different protein isoforms have been described but they have not been fully characterized. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor -like 1" which has an official symbol of NFE2L1.
DNA polymerase subunit gamma is an enzyme that in humans is encoded by the POLG gene. Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE).
Mitochondrial transcription factor A, abbreviated as TFAM or mtTFA, is a protein that in humans is encoded by the TFAM gene.
Twinkle protein also known as twinkle mtDNA helicase is a mitochondrial protein that in humans is encoded by the TWNK gene located in the long arm of chromosome 10 (10q24.31).
Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.
Protein ETHE1, mitochondrial, also known as "ethylmalonic encephalopathy 1 protein" and "per sulfide dioxygenase", is a protein that in humans is encoded by the ETHE1 gene located on chromosome 19.
Protein MPV17 is a protein that in humans is encoded by the MPV17 gene. It is a mitochondrial inner membrane protein, which has a so far largely unknown role in mtDNA maintenance. Protein MPV17 is expressed in human pancreas, kidney, muscle, liver, lung, placenta, brain and heart. Human MPV17 is the orthologue of the mouse kidney disease gene, Mpv17. Loss of function has been shown to cause hepatocerebral mtDNA depletion syndromes (MDS) with oxidative phosphorylation failure and mtDNA depletion both in affected individuals and in Mpv17−/− mice.
Mitochondrial 2-oxoglutarate/malate carrier protein is a protein that in humans is encoded by the SLC25A11 gene. Inactivating mutations in this gene predispose to metastasic paraganglioma.
Single-stranded DNA-binding protein 2 is a protein that in humans is encoded by the SSBP2 gene.
28S ribosomal protein S22, mitochondrial is a protein that in humans is encoded by the MRPS22 gene.
Endonuclease G, mitochondrial is an enzyme that in humans is encoded by the ENDOG gene. This protein primarily participates in caspase-independent apoptosis via DNA degradation when translocating from the mitochondrion to nucleus under oxidative stress. As a result, EndoG has been implicated in cancer, aging, and neurodegenerative diseases such as Parkinson’s disease (PD). Regulation of its expression levels thus holds potential to treat or ameliorate those conditions.
POLRMT is a symbol of RNA polymerase mitochondrial
RNA-binding motif, single-stranded-interacting protein 1 is a protein that in humans is encoded by the RBMS1 gene.
tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.
Single-stranded DNA-binding protein 3 is a protein that in humans is encoded by the SSBP3 gene.
ADP/ATP translocase 3, also known as solute carrier family 25 member 6, is a protein that in humans is encoded by the SLC25A6 gene.
Single-stranded binding proteins (SSBs) are a class of proteins that have been identified in both viruses and organisms from bacteria to humans.
PET100 homolog is a protein that in humans is encoded by the PET100 gene. Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by the PET100 gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants.
PET117 homolog is a protein that in humans is encoded by the PET117 gene. Localized to mitochondria, this protein is a chaperone protein involved in the assembly of mitochondrial Complex IV, or Cytochrome C Oxidase. Mutations in this gene can cause Complex IV deficiency with symptoms including medulla oblongata lesions and lactic acidosis.
Single-stranded DNA-binding protein 4 is a protein that in humans is encoded by the SSBP4 gene.