SSBP1
Single-stranded DNA-binding protein, mitochondrial
Also known as: mtSSB, SSBP, SSBP_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q04837
- Gene
- SSBP1
- Ensembl
- ENSG00000106028
- Chromosome
- 7
- Canonical length
- 148 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Mitochondria,Calyx,Principal piece
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]
Canonical amino-acid sequenceUniProt
148 residues, UniProt reviewed canonical sequence.
>Q04837|SSBP1
1 MFRRPVLQVL RQFVRHESET TTSLVLERSL NRVHLLGRVG QDPVLRQVEG KNPVTIFSLA
61 TNEMWRSGDS EVYQLGDVSQ KTTWHRISVF RPGLRDVAYQ YVKKGSRIYL EGKIDYGEYM
121 DKNNVRRQAT TIIADNIIFL SDQTKEKELocalizationUniProt · AlphaFold · HPA
Whether an antibody against SSBP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 139 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 139 nTPM
- heart muscle: 132 nTPM
- esophagus: 124 nTPM
- liver: 113 nTPM
- blood vessel: 110 nTPM
- tonsil: 106 nTPM
Single-cell type
- esophageal suprabasal cells: 526 nCPM
- gastric progenitor cells: 492 nCPM
- esophageal basal cells: 485 nCPM
- late primary spermatocytes: 411 nCPM
- migrating cytotrophoblasts: 406 nCPM
- cytotrophoblasts: 365 nCPM
Immune cell
- basophil: 136 nTPM
- T-reg: 124 nTPM
- total PBMC: 116 nTPM
- memory CD4 T-cell: 114 nTPM
- naive CD8 T-cell: 114 nTPM
- MAIT T-cell: 108 nTPM
Brain region
- hypothalamus: 42 nTPM
- midbrain: 41 nTPM
- cerebral cortex: 40 nTPM
- white matter: 40 nTPM
- pons: 38 nTPM
- spinal cord: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SSBP1.
Disease | AllUniProt
Conditions SSBP1 is implicated in, by any mechanism.
- Optic atrophy 13 with retinal and foveal abnormalities (OPA13) MIM:165510
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 34 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Optic atrophy 13 with retinal and foveal abnormalities
- Cone-rod dystrophy
- Retinal disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.9
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.11
- DepMap mean gene effect
- -0.36
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA replication
- mitochondrial DNA replication
- positive regulation of helicase activity
- positive regulation of mitochondrial DNA replication
- protein homotetramerization
Molecular functions
- chromatin binding
- enzyme activator activity
- identical protein binding
- protein homodimerization activity
- RNA binding
- single-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Nucleic acid-binding, OB-fold
- Primosome PriB/single-strand DNA-binding
- Single-stranded DNA-binding protein
- Single-strand binding protein family
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SSBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SSBP1 as an antibody target. Whether an autoantibody or antibody against SSBP1 could matter depends on whether native SSBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SSBP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SSBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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