UniProtKB - Q04837 (SSBP_HUMAN)
Single-stranded DNA-binding protein, mitochondrial
SSBP1
Functioni
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).
6 PublicationsGO - Molecular functioni
- chromatin binding Source: UniProtKB
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
- RNA binding Source: UniProtKB
- single-stranded DNA binding Source: UniProtKB
GO - Biological processi
- DNA unwinding involved in DNA replication Source: FlyBase
- mitochondrial DNA replication Source: GO_Central
- mitochondrion morphogenesis Source: Ensembl
- positive regulation of DNA helicase activity Source: FlyBase
- positive regulation of helicase activity Source: UniProtKB
- positive regulation of mitochondrial DNA replication Source: UniProtKB
- protein homotetramerization Source: UniProtKB
Keywordsi
Molecular function | DNA-binding |
Biological process | DNA replication |
Enzyme and pathway databases
PathwayCommonsi | Q04837 |
Reactomei | R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
SignaLinki | Q04837 |
Names & Taxonomyi
Protein namesi | Recommended name: Single-stranded DNA-binding protein, mitochondrialShort name: Mt-SSB Short name: MtSSB Alternative name(s): PWP1-interacting protein 17 |
Gene namesi | Name:SSBP1 Synonyms:SSBP |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11317, SSBP1 |
MIMi | 600439, gene |
neXtProti | NX_Q04837 |
VEuPathDBi | HostDB:ENSG00000106028 |
Subcellular locationi
Mitochondrion
- Mitochondrion 3 Publications
- mitochondrion nucleoid 2 Publications
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrial nucleoid Source: UniProtKB
- mitochondrion Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- nucleoid Source: GO_Central
Keywords - Cellular componenti
Mitochondrion, Mitochondrion nucleoidPathology & Biotechi
Involvement in diseasei
Optic atrophy 13 with retinal and foveal abnormalities (OPA13)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_084732 | 38 | R → Q in OPA13; may impair dimerization and tetramerization. 2 Publications | 1 | |
Natural variantiVAR_084733 | 40 | G → V in OPA13; reduced ability to stimulate POLG-dependent DNA synthesis in vitro. 1 Publication | 1 | |
Natural variantiVAR_084734 | 62 | N → D in OPA13; reduced ability to stimulate POLG-dependent DNA synthesis in vitro. 1 Publication | 1 | |
Natural variantiVAR_084735 | 107 | R → Q in OPA13; reduced ability to stimulate POLG-dependent DNA synthesis in vitro. 3 Publications | 1 | |
Natural variantiVAR_084736 | 111 | E → Q in OPA13; reduced ability to stimulate POLG-dependent DNA synthesis in vitro. 1 Publication | 1 | |
Natural variantiVAR_084738 | 141 | S → N in OPA13. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 49 – 51 | EGK → AAA in mtSSBloop12; decreased unwinding of double-stranded DNA by the helicase TWNK and increased binding to single-stranded DNA, in vitro. 1 Publication | 3 | |
Mutagenesisi | 67 – 75 | Missing in mtSSBloop23; reduced ability to open template DNA and decreased POLG polymerase activity, in vitro. Also displays decreased unwinding of double-stranded DNA by the helicase TWNK and increased binding to single-stranded DNA. 1 Publication | 9 | |
Mutagenesisi | 99 – 100 | YQ → AA in mtSSBalpha1; decreased POLG polymerase activity, in vitro. No effect on unwinding of double-stranded DNA by the helicase TWNK. 1 Publication | 2 | |
Mutagenesisi | 116 – 118 | YGE → AAA in mtSSB45-1; decreased POLG polymerase activity and increased unwinding of double-stranded DNA by the helicase TWNK, in vitro. 1 Publication | 3 | |
Mutagenesisi | 122 – 124 | KNN → AAA in mtSSB45-2; decreased unwinding of double-stranded DNA by the helicase TWNK, in vitro. 1 Publication | 3 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 6742 |
MalaCardsi | SSBP1 |
MIMi | 165510, phenotype |
OpenTargetsi | ENSG00000106028 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA36141 |
Miscellaneous databases
Pharosi | Q04837, Tbio |
Genetic variation databases
BioMutai | SSBP1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 16 | MitochondrionCombined sources1 PublicationAdd BLAST | 16 | |
ChainiPRO_0000033263 | 17 – 148 | Single-stranded DNA-binding protein, mitochondrialAdd BLAST | 132 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 67 | PhosphoserineBy similarity | 1 | |
Modified residuei | 79 | PhosphoserineCombined sources | 1 | |
Modified residuei | 113 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 122 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-1637 |
EPDi | Q04837 |
jPOSTi | Q04837 |
MassIVEi | Q04837 |
MaxQBi | Q04837 |
PaxDbi | Q04837 |
PeptideAtlasi | Q04837 |
PRIDEi | Q04837 |
ProteomicsDBi | 58286 |
TopDownProteomicsi | Q04837 |
2D gel databases
UCD-2DPAGEi | Q04837 |
PTM databases
GlyGeni | Q04837, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q04837 |
MetOSitei | Q04837 |
PhosphoSitePlusi | Q04837 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000106028, Expressed in material anatomical entity and 251 other tissues |
ExpressionAtlasi | Q04837, baseline and differential |
Genevisiblei | Q04837, HS |
Organism-specific databases
HPAi | ENSG00000106028, Low tissue specificity |
Interactioni
Subunit structurei
Homotetramer (PubMed:23290262, PubMed:31550240).
Interacts with MPG/AAG, through inhibition of its glycosylase activity it potentially prevents formation of DNA breaks in ssDNA, ensuring that base removal primarily occurs in dsDNA (PubMed:23290262).
Interacts with POLDIP2 (PubMed:16428295).
Interacts with PRIMPOL (PubMed:25550423).
4 PublicationsBinary interactionsi
Q04837
GO - Molecular functioni
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 112620, 497 interactors |
IntActi | Q04837, 181 interactors |
MINTi | Q04837 |
STRINGi | 9606.ENSP00000419665 |
Miscellaneous databases
RNActi | Q04837, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q04837 |
SMRi | Q04837 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q04837 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 30 – 141 | SSBAdd BLAST | 112 |
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1653, Eukaryota |
GeneTreei | ENSGT00390000002796 |
InParanoidi | Q04837 |
OMAi | GNCIGRF |
OrthoDBi | 1304218at2759 |
PhylomeDBi | Q04837 |
TreeFami | TF314629 |
Family and domain databases
CDDi | cd04496, SSB_OBF, 1 hit |
Gene3Di | 2.40.50.140, 1 hit |
HAMAPi | MF_00984, SSB, 1 hit |
InterProi | View protein in InterPro IPR012340, NA-bd_OB-fold IPR000424, Primosome_PriB/ssb IPR011344, ssDNA-bd |
PANTHERi | PTHR10302, PTHR10302, 1 hit |
Pfami | View protein in Pfam PF00436, SSB, 1 hit |
PIRSFi | PIRSF002070, SSB, 1 hit |
SUPFAMi | SSF50249, SSF50249, 1 hit |
TIGRFAMsi | TIGR00621, ssb, 1 hit |
PROSITEi | View protein in PROSITE PS50935, SSB, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MFRRPVLQVL RQFVRHESET TTSLVLERSL NRVHLLGRVG QDPVLRQVEG
60 70 80 90 100
KNPVTIFSLA TNEMWRSGDS EVYQLGDVSQ KTTWHRISVF RPGLRDVAYQ
110 120 130 140
YVKKGSRIYL EGKIDYGEYM DKNNVRRQAT TIIADNIIFL SDQTKEKE
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EUY5 | E7EUY5_HUMAN | Single-stranded DNA-binding protein... | SSBP1 | 135 | Annotation score: | ||
C9K0U8 | C9K0U8_HUMAN | Single-stranded DNA-binding protein... | SSBP1 | 121 | Annotation score: | ||
A0A0G2JLD8 | A0A0G2JLD8_HUMAN | Single-stranded DNA-binding protein... | SSBP1 | 134 | Annotation score: | ||
C9J8J0 | C9J8J0_HUMAN | Single-stranded DNA-binding protein... | SSBP1 | 28 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_084732 | 38 | R → Q in OPA13; may impair dimerization and tetramerization. 2 Publications | 1 | |
Natural variantiVAR_084733 | 40 | G → V in OPA13; reduced ability to stimulate POLG-dependent DNA synthesis in vitro. 1 Publication | 1 | |
Natural variantiVAR_084734 | 62 | N → D in OPA13; reduced ability to stimulate POLG-dependent DNA synthesis in vitro. 1 Publication | 1 | |
Natural variantiVAR_084735 | 107 | R → Q in OPA13; reduced ability to stimulate POLG-dependent DNA synthesis in vitro. 3 Publications | 1 | |
Natural variantiVAR_084736 | 111 | E → Q in OPA13; reduced ability to stimulate POLG-dependent DNA synthesis in vitro. 1 Publication | 1 | |
Natural variantiVAR_084737 | 132 | I → V Found in a patient with a systemic mitochondrial disorder; unknown pathological significance; impaired multimerization; reduced ability to stimulate POLG-dependent DNA synthesis in vitro; mtDNA depletion without any detectable energetic defects. 1 PublicationCorresponds to variant dbSNP:rs777794675EnsemblClinVar. | 1 | |
Natural variantiVAR_084738 | 141 | S → N in OPA13. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M94556 mRNA Translation: AAA36332.1 AF277319 mRNA Translation: AAK69112.1 BC000895 mRNA Translation: AAH00895.1 |
CCDSi | CCDS5866.1 |
PIRi | JN0568 |
RefSeqi | NP_001243439.1, NM_001256510.1 NP_001243440.1, NM_001256511.1 NP_001243441.1, NM_001256512.1 NP_001243442.1, NM_001256513.1 NP_003134.1, NM_003143.2 |
Genome annotation databases
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M94556 mRNA Translation: AAA36332.1 AF277319 mRNA Translation: AAK69112.1 BC000895 mRNA Translation: AAH00895.1 |
CCDSi | CCDS5866.1 |
PIRi | JN0568 |
RefSeqi | NP_001243439.1, NM_001256510.1 NP_001243440.1, NM_001256511.1 NP_001243441.1, NM_001256512.1 NP_001243442.1, NM_001256513.1 NP_003134.1, NM_003143.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1S3O | X-ray | 2.47 | A/B | 17-148 | [»] | |
2DUD | X-ray | 2.70 | A/B | 16-148 | [»] | |
3ULL | X-ray | 2.40 | A/B | 17-148 | [»] | |
6RUP | X-ray | 2.10 | A/B | 16-148 | [»] | |
AlphaFoldDBi | Q04837 | |||||
SMRi | Q04837 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112620, 497 interactors |
IntActi | Q04837, 181 interactors |
MINTi | Q04837 |
STRINGi | 9606.ENSP00000419665 |
PTM databases
GlyGeni | Q04837, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q04837 |
MetOSitei | Q04837 |
PhosphoSitePlusi | Q04837 |
Genetic variation databases
BioMutai | SSBP1 |
2D gel databases
UCD-2DPAGEi | Q04837 |
Proteomic databases
CPTACi | CPTAC-1637 |
EPDi | Q04837 |
jPOSTi | Q04837 |
MassIVEi | Q04837 |
MaxQBi | Q04837 |
PaxDbi | Q04837 |
PeptideAtlasi | Q04837 |
PRIDEi | Q04837 |
ProteomicsDBi | 58286 |
TopDownProteomicsi | Q04837 |
Protocols and materials databases
Antibodypediai | 1260, 179 antibodies from 30 providers |
DNASUi | 6742 |
Genome annotation databases
Organism-specific databases
CTDi | 6742 |
DisGeNETi | 6742 |
GeneCardsi | SSBP1 |
HGNCi | HGNC:11317, SSBP1 |
HPAi | ENSG00000106028, Low tissue specificity |
MalaCardsi | SSBP1 |
MIMi | 165510, phenotype 600439, gene |
neXtProti | NX_Q04837 |
OpenTargetsi | ENSG00000106028 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA36141 |
VEuPathDBi | HostDB:ENSG00000106028 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1653, Eukaryota |
GeneTreei | ENSGT00390000002796 |
InParanoidi | Q04837 |
OMAi | GNCIGRF |
OrthoDBi | 1304218at2759 |
PhylomeDBi | Q04837 |
TreeFami | TF314629 |
Enzyme and pathway databases
PathwayCommonsi | Q04837 |
Reactomei | R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
SignaLinki | Q04837 |
Miscellaneous databases
BioGRID-ORCSi | 6742, 274 hits in 1082 CRISPR screens |
ChiTaRSi | SSBP1, human |
EvolutionaryTracei | Q04837 |
GeneWikii | SSBP1 |
GenomeRNAii | 6742 |
Pharosi | Q04837, Tbio |
PROi | PR:Q04837 |
RNActi | Q04837, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000106028, Expressed in material anatomical entity and 251 other tissues |
ExpressionAtlasi | Q04837, baseline and differential |
Genevisiblei | Q04837, HS |
Family and domain databases
CDDi | cd04496, SSB_OBF, 1 hit |
Gene3Di | 2.40.50.140, 1 hit |
HAMAPi | MF_00984, SSB, 1 hit |
InterProi | View protein in InterPro IPR012340, NA-bd_OB-fold IPR000424, Primosome_PriB/ssb IPR011344, ssDNA-bd |
PANTHERi | PTHR10302, PTHR10302, 1 hit |
Pfami | View protein in Pfam PF00436, SSB, 1 hit |
PIRSFi | PIRSF002070, SSB, 1 hit |
SUPFAMi | SSF50249, SSF50249, 1 hit |
TIGRFAMsi | TIGR00621, ssb, 1 hit |
PROSITEi | View protein in PROSITE PS50935, SSB, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SSBP_HUMAN | |
Accessioni | Q04837Primary (citable) accession number: Q04837 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1993 |
Last sequence update: | October 1, 1993 | |
Last modified: | May 25, 2022 | |
This is version 209 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references