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] See more...

Aliases for SSBP1 Gene

Aliases for SSBP1 Gene

  • Single Stranded DNA Binding Protein 1 2 3 5
  • MtSSB 2 3 4
  • SSBP 2 3 4
  • Single-Stranded DNA Binding Protein 1, Mitochondrial 2 3
  • Single-Stranded DNA-Binding Protein, Mitochondrial 3 4
  • PWP1-Interacting Protein 17 3 4
  • Mt-SSB 3 4
  • Single-Stranded DNA Binding Protein 1 2
  • Single-Stranded DNA-Binding Protein 2
  • SOSS-B1 3
  • OPA13 3
  • SSBP1 5

External Ids for SSBP1 Gene

Previous GeneCards Identifiers for SSBP1 Gene

  • GC07P139708
  • GC07P140768
  • GC07P140845
  • GC07P140891
  • GC07P141084
  • GC07P141440
  • GC07P135734
  • GC07P141442
  • GC07P141445
  • GC07P142608
  • GC07P142902
  • GC07P144285
  • GC07P144419
  • GC07P144636
  • GC07P144876
  • GC07P143062
  • GC07P143209
  • GC07P143409
  • GC07P143560
  • GC07P143710
  • GC07P143832
  • GC07P143976
  • GC07P144137
  • GC07P145133
  • GC07P145411

Summaries for SSBP1 Gene

Entrez Gene Summary for SSBP1 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]

GeneCards Summary for SSBP1 Gene

SSBP1 (Single Stranded DNA Binding Protein 1) is a Protein Coding gene. Diseases associated with SSBP1 include Optic Atrophy 13 With Retinal And Foveal Abnormalities and Mitochondrial Dna Depletion Syndrome 7. Among its related pathways are Organelle biogenesis and maintenance and Mismatch repair. Gene Ontology (GO) annotations related to this gene include single-stranded DNA binding.

UniProtKB/Swiss-Prot Summary for SSBP1 Gene

  • Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA) (PubMed:21953457, PubMed:23290262). In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays crucial roles during mtDNA replication that stimulate activity of the replisome components POLG and TWNK at the replication fork (PubMed:21953457, PubMed:12975372, PubMed:26446790, PubMed:15167897). 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). 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).

Gene Wiki entry for SSBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SSBP1 Gene

Genomics for SSBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SSBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J141736 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 261.2 +0.2 172 3.4 BCLAF1 SP1 ZNF207 ZNF654 NCOR1 IKZF1 MYC ZNF600 SIX5 SSRP1 WEE2-AS1 SSBP1 HSALNG0061854-001 HSALNG0061854-002 NONHSAG048978.2 TAS2R6P TAS2R5 PRSS37 BRAF WEE2
GH07J142645 Promoter/Enhancer 0.7 Ensembl ENCODE 5.7 +908.1 908115 1.3 GATA2 CREB1 TRBV23-1 TRBV28 SSBP1 TRBV24-1 TRBV20-1 HSALNG0061904 lnc-PRSS2-6 TRB
GH07J142636 Promoter/Enhancer 0.6 Ensembl ENCODE 5.7 +899.1 899141 2 ZNF146 TRBV21-1 TRBV28 EPHB6 SSBP1 lnc-MTRNR2L6-10 TRBV20-1 TRBV24-1 HSALNG0061904 lnc-PRSS2-6 TRB
GH07J141712 Enhancer 0.7 Ensembl ENCODE 0.4 -24.1 -24081 4.5 REST JUND EHMT2 BATF ATF2 JUNB JUN CREB1 ATF3 ATF7 WEE2-AS1 WEE2 RNU1-82P HSALNG0061854-001 HSALNG0061854-002 SSBP1
GH07J141751 Enhancer 0.4 Ensembl 0.4 +13.3 13280 0.4 SUPT5H ZBTB33 POLR2A TAS2R3 WEE2-AS1 SSBP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SSBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SSBP1

Top Transcription factor binding sites by QIAGEN in the SSBP1 gene promoter:
  • AREB6
  • FOXJ2
  • FOXJ2 (long isoform)
  • GCNF
  • GCNF-1
  • GCNF-2
  • HTF
  • LCR-F1
  • Pbx1a
  • Roaz

Genomic Locations for SSBP1 Gene

Latest Assembly
chr7:141,738,321-141,787,922
(GRCh38/hg38)
Size:
49,602 bases
Orientation:
Plus strand

Previous Assembly
chr7:141,438,121-141,450,288
(GRCh37/hg19 by Entrez Gene)
Size:
12,168 bases
Orientation:
Plus strand

chr7:141,438,121-141,487,722
(GRCh37/hg19 by Ensembl)
Size:
49,602 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr7(ALT_REF_LOCI_1):110,921-118,190 (+)

Genomic View for SSBP1 Gene

Genes around SSBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SSBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SSBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SSBP1 Gene

Proteins for SSBP1 Gene

  • Protein details for SSBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04837-SSBP_HUMAN
    Recommended name:
    Single-stranded DNA-binding protein, mitochondrial
    Protein Accession:
    Q04837

    Protein attributes for SSBP1 Gene

    Size:
    148 amino acids
    Molecular mass:
    17260 Da
    Quaternary structure:
    • Homotetramer (PubMed:23290262). 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).

    Three dimensional structures from OCA and Proteopedia for SSBP1 Gene

neXtProt entry for SSBP1 Gene

Post-translational modifications for SSBP1 Gene

  • Ubiquitination at Lys51, Lys81, and Lys122
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SSBP1 Gene

Domains & Families for SSBP1 Gene

Gene Families for SSBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SSBP1 Gene

InterPro:
Blocks:
  • Single-strand binding protein
  • Single-strand binding protein

Suggested Antigen Peptide Sequences for SSBP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93504, Homo sapiens single-stranded DNA binding protein 1 (SSBP1), mRNA (A4D1U3_HUMAN)
  • cDNA FLJ51825, highly similar to Single-stranded DNA-binding protein, mitochondrial (B7Z268_HUMAN)
  • Single-stranded DNA binding protein 1 (Q567R6_HUMAN)
  • SSBP1 protein (Q96QL6_HUMAN)
  • PWP1-interacting protein 17 (SSBP_HUMAN)
genes like me logo Genes that share domains with SSBP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SSBP1 Gene

Function for SSBP1 Gene

Molecular function for SSBP1 Gene

UniProtKB/Swiss-Prot Function:
Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA) (PubMed:21953457, PubMed:23290262). In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays crucial roles during mtDNA replication that stimulate activity of the replisome components POLG and TWNK at the replication fork (PubMed:21953457, PubMed:12975372, PubMed:26446790, PubMed:15167897). 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). 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).

Phenotypes From GWAS Catalog for SSBP1 Gene

Gene Ontology (GO) - Molecular Function for SSBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 18063578
GO:0003697 single-stranded DNA binding IDA,IMP 21953457
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 16428295
genes like me logo Genes that share ontologies with SSBP1: view
genes like me logo Genes that share phenotypes with SSBP1: view

Human Phenotype Ontology for SSBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SSBP1 Gene

MGI Knock Outs for SSBP1:
  • Ssbp1 Ssbp1<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SSBP1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SSBP1 Gene

Localization for SSBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SSBP1 Gene

Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SSBP1 gene
Compartment Confidence
mitochondrion 5
extracellular 4
nucleus 4
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SSBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IEA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0009295 nucleoid IBA 21873635
GO:0042645 mitochondrial nucleoid IBA,IDA 18063578
genes like me logo Genes that share ontologies with SSBP1: view

Pathways & Interactions for SSBP1 Gene

genes like me logo Genes that share pathways with SSBP1: view

Gene Ontology (GO) - Biological Process for SSBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IEA --
GO:0006264 mitochondrial DNA replication IBA 21873635
GO:0006268 DNA unwinding involved in DNA replication IDA 26446790
GO:0007005 mitochondrion organization TAS --
GO:0051096 positive regulation of helicase activity IDA 12975372
genes like me logo Genes that share ontologies with SSBP1: view

No data available for SIGNOR curated interactions for SSBP1 Gene

Drugs & Compounds for SSBP1 Gene

(1) Drugs for SSBP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SSBP1: view

Transcripts for SSBP1 Gene

mRNA/cDNA for SSBP1 Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SSBP1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SSBP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: - - -
SP6: - -

Relevant External Links for SSBP1 Gene

GeneLoc Exon Structure for
SSBP1

Expression for SSBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SSBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SSBP1 Gene

This gene is overexpressed in Nasal epithelium (7.4) and Peripheral blood mononuclear cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SSBP1 Gene



Protein tissue co-expression partners for SSBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SSBP1

SOURCE GeneReport for Unigene cluster for SSBP1 Gene:

Hs.490394

Evidence on tissue expression from TISSUES for SSBP1 Gene

  • Liver(4.5)
  • Pancreas(4.5)
  • Skin(4.2)
  • Nervous system(3.7)
  • Muscle(2.8)
  • Heart(2.7)
  • Kidney(2.7)
  • Thyroid gland(2.4)
  • Stomach(2.4)
  • Intestine(2.4)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with SSBP1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SSBP1 Gene

Orthologs for SSBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SSBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SSBP1 29 30
  • 99.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ssbp1 29 16 30
  • 90.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SSBP1 29 30
  • 89.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ssbp1 29
  • 89.57 (n)
Cow
(Bos Taurus)
Mammalia SSBP1 29 30
  • 89.12 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SSBP1 30
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SSBP1 30
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SSBP1 29 30
  • 77.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SSBP1 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ssbp1 29
  • 69.48 (n)
Str.1603 29
African clawed frog
(Xenopus laevis)
Amphibia XL 29
Zebrafish
(Danio rerio)
Actinopterygii ssbp1 29 30
  • 69.86 (n)
OneToOne
Dr.17626 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002477 29
  • 48.06 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mtSSB 29 30
  • 47.58 (n)
OneToOne
Species where no ortholog for SSBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SSBP1 Gene

ENSEMBL:
Gene Tree for SSBP1 (if available)
TreeFam:
Gene Tree for SSBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SSBP1: view image
Alliance of Genome Resources:
Additional Orthologs for SSBP1

Paralogs for SSBP1 Gene

genes like me logo Genes that share paralogs with SSBP1: view

No data available for Paralogs for SSBP1 Gene

Variants for SSBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SSBP1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
932474 Uncertain Significance: not provided 141,743,641(+) A/G
NM_003143.3(SSBP1):c.166A>G (p.Ile56Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
977502 Pathogenic: Optic atrophy with negative electroretinograms 141,743,588(+) G/A
NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
977503 Pathogenic: Optic atrophy with negative electroretinograms; not provided 141,745,501(+) G/A
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
977504 Pathogenic: Optic atrophy with negative electroretinograms 141,750,329(+) G/A
NM_003143.3(SSBP1):c.422G>A (p.Ser141Asn)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
977505 Pathogenic: Optic atrophy with negative electroretinograms 141,743,594(+) G/T
NM_003143.3(SSBP1):c.119G>T (p.Gly40Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SSBP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SSBP1 Gene

Variant ID Type Subtype PubMed ID
esv34135 CNV loss 18971310
nsv1128369 CNV deletion 24896259
nsv1137297 CNV deletion 24896259

Variation tolerance for SSBP1 Gene

Residual Variation Intolerance Score: 61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SSBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SSBP1
Leiden Open Variation Database (LOVD)
SSBP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SSBP1 Gene

Disorders for SSBP1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SSBP1 Gene - From: OMI, CVR, and COP

Additional Disease Information for SSBP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SSBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SSBP1 Gene

Publications for SSBP1 Gene

  1. PDIP38 associates with proteins constituting the mitochondrial DNA nucleoid. (PMID: 16428295) Cheng X … Kang D (Journal of biochemistry 2005) 3 4 22
  2. Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. (PMID: 7789991) Tiranti V … Zeviani M (Genomics 1995) 2 3 22
  3. Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB). (PMID: 8482537) Tiranti V … Zeviani M (Gene 1993) 3 4 22
  4. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. (PMID: 31550237) Piro-Mégy C … Delettre C (The Journal of clinical investigation 2020) 3 72
  5. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. (PMID: 31550240) Del Dotto V … Carelli V (The Journal of clinical investigation 2020) 3 72

Products for SSBP1 Gene

Sources for SSBP1 Gene