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SSBP1 single stranded DNA binding protein 1 [ Homo sapiens (human) ]

Gene ID: 6742, updated on 10-Dec-2024

Summary

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Official Symbol
SSBP1provided by HGNC
Official Full Name
single stranded DNA binding protein 1provided by HGNC
Primary source
HGNC:HGNC:11317
See related
Ensembl:ENSG00000106028 MIM:600439; AllianceGenome:HGNC:11317
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SSBP; OPA13; mtSSB; Mt-SSB; SOSS-B1
Summary
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]
Expression
Ubiquitous expression in appendix (RPKM 9.8), adrenal (RPKM 9.6) and 25 other tissues See more
Orthologs
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Genomic context

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See SSBP1 in Genome Data Viewer
Location:
7q34
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (141738321..141750488)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (143054147..143066314)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (141438121..141450288)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene DENN domain containing 11 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:141374567-141375546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:141391618-141392127 Neighboring gene WEE2 antisense RNA 1 Neighboring gene MPRA-validated peak6798 silencer Neighboring gene WEE2 oocyte meiosis inhibiting kinase Neighboring gene RNA, U1 small nuclear 82, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:141437175-141438060 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:141447210-141447352 Neighboring gene taste 2 receptor member 3 Neighboring gene taste 2 receptor member 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance. Jurkute N, et al. Invest Ophthalmol Vis Sci, 2021 Dec 1. PMID 34905022, Free PMC Article
  2. Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis. He J, et al. Nucleic Acids Res, 2012 Jul. PMID 22453275, Free PMC Article
  3. Human single-stranded DNA binding protein 1 (hSSB1, OBFC2B), a critical component of the DNA damage response. Croft LV, et al. Semin Cell Dev Biol, 2019 Feb. PMID 29577982
  4. Optical Tweezers to Investigate the Structure and Energetics of Single-Stranded DNA-Binding Protein-DNA Complexes. Morin JA, et al. Methods Mol Biol, 2021. PMID 33847965
  5. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. Piro-Mégy C, et al. J Clin Invest, 2020 Jan 2. PMID 31550237, Free PMC Article

See all (244) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of SSBP1 as a ferroptosis-related biomarker of glioblastoma based on a novel mitochondria-related gene risk model and in vitro experiments.
    Title: Identification of SSBP1 as a ferroptosis-related biomarker of glioblastoma based on a novel mitochondria-related gene risk model and in vitro experiments.
  2. Identification of SSBP1 as a prognostic marker in human lung adenocarcinoma using bioinformatics approaches.
    Title: Identification of SSBP1 as a prognostic marker in human lung adenocarcinoma using bioinformatics approaches.
  3. SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
    Title: SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
  4. Characterization of SSBP1-related optic atrophy and foveopathy.
    Title: Characterization of SSBP1-related optic atrophy and foveopathy.
  5. De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
    Title: De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
  6. Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein.
    Title: Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein.
  7. Optical Tweezers to Investigate the Structure and Energetics of Single-Stranded DNA-Binding Protein-DNA Complexes.
    Title: Optical Tweezers to Investigate the Structure and Energetics of Single-Stranded DNA-Binding Protein-DNA Complexes.
  8. Analysis of Mitochondrial SSB-DNA Complexes and Their Effects on DNA Polymerase gamma Activity by Electron Microscopy and Enzymatic Assays.
    Title: Analysis of Mitochondrial SSB-DNA Complexes and Their Effects on DNA Polymerase γ Activity by Electron Microscopy and Enzymatic Assays.
  9. Consequences of compromised mitochondrial genome integrity.
    Title: Consequences of compromised mitochondrial genome integrity.
  10. LncSSBP1 Functions as a Negative Regulator of IL-6 Through Interaction With hnRNPK in Bronchial Epithelial Cells Infected With Talaromyces marneffei.
    Title: LncSSBP1 Functions as a Negative Regulator of IL-6 Through Interaction With hnRNPK in Bronchial Epithelial Cells Infected With Talaromyces marneffei.
Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Optic atrophy 13 with retinal and foveal abnormalities
MedGen: C5435585 OMIM: 165510 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genetic variants associated with disordered eating.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev is identified to have a physical interaction with single-stranded DNA binding protein 1 (SSBP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Tat tat Upregulation of actin, heat shock protein 90 and mitochondrial single-stranded DNA binding protein, and downregulation of lactate dehydrogenase are identified in human astrocytes expressing Tat PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables single-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables single-stranded DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA unwinding involved in DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA unwinding involved in DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial genome maintenance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mitochondrial DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of mitochondrial DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein homotetramerization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrial nucleoid IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
single-stranded DNA-binding protein, mitochondrial
Names
PWP1-interacting protein 17
single-stranded DNA binding protein 1, mitochondrial

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256510.1 → NP_001243439.1  single-stranded DNA-binding protein, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001243439.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
    Source sequence(s)
    BC000895, BP308841
    Consensus CDS
    CCDS5866.1
    UniProtKB/Swiss-Prot
    Q04837
    UniProtKB/TrEMBL
    A4D1U3, Q567R6
    Related
    ENSP00000419665.1, ENST00000481508.1
    Conserved Domains (1) summary
    TIGR00621
    Location:27 → 141
    ssb; single stranded DNA-binding protein (ssb)

  2. NM_001256511.1 → NP_001243440.1  single-stranded DNA-binding protein, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001243440.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 5 encode the same protein.
    Source sequence(s)
    AF277319, BG030060, BP308841, BU532904
    Consensus CDS
    CCDS5866.1
    UniProtKB/Swiss-Prot
    Q04837
    UniProtKB/TrEMBL
    A4D1U3, Q567R6
    Related
    ENSP00000480488.1, ENST00000612337.4
    Conserved Domains (1) summary
    TIGR00621
    Location:27 → 141
    ssb; single stranded DNA-binding protein (ssb)

  3. NM_001256512.1 → NP_001243441.1  single-stranded DNA-binding protein, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001243441.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 5 encode the same protein.
    Source sequence(s)
    AF277319, BP308841, BQ959702, BU532904, DB464012
    Consensus CDS
    CCDS5866.1
    UniProtKB/Swiss-Prot
    Q04837
    UniProtKB/TrEMBL
    A4D1U3, Q567R6
    Related
    ENSP00000418068.1, ENST00000467681.5
    Conserved Domains (1) summary
    TIGR00621
    Location:27 → 141
    ssb; single stranded DNA-binding protein (ssb)

  4. NM_001256513.1 → NP_001243442.1  single-stranded DNA-binding protein, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001243442.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 5 encode the same protein.
    Source sequence(s)
    AF277319, AK313033, BP308841, BU532904
    Consensus CDS
    CCDS5866.1
    UniProtKB/Swiss-Prot
    Q04837
    UniProtKB/TrEMBL
    A4D1U3, Q567R6
    Related
    ENSP00000419541.1, ENST00000498107.5
    Conserved Domains (1) summary
    TIGR00621
    Location:27 → 141
    ssb; single stranded DNA-binding protein (ssb)

  5. NM_003143.3 → NP_003134.1  single-stranded DNA-binding protein, mitochondrial precursor

    See identical proteins and their annotated locations for NP_003134.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 through 5 encode the same protein.
    Source sequence(s)
    AF277319, BP308841, BU532904
    Consensus CDS
    CCDS5866.1
    UniProtKB/Swiss-Prot
    Q04837
    UniProtKB/TrEMBL
    A4D1U3, Q567R6
    Related
    ENSP00000265304.6, ENST00000265304.11
    Conserved Domains (1) summary
    TIGR00621
    Location:27 → 141
    ssb; single stranded DNA-binding protein (ssb)

RNA

  1. NR_046269.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC004918, AF277319, BF131408, BP308841, BU532904
    Related
    ENST00000469123.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    141738321..141750488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250051.6 → XP_005250108.1  single-stranded DNA-binding protein, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005250108.1

    UniProtKB/TrEMBL
    A0A0G2JLD8, B7WNJ6, B7Z268
    Conserved Domains (2) summary
    COG0629
    Location:29 → 134
    Ssb; Single-stranded DNA-binding protein [Replication, recombination and repair]
    TIGR00621
    Location:27 → 134
    ssb; single stranded DNA-binding protein (ssb)

  2. XM_005250050.6 → XP_005250107.1  single-stranded DNA-binding protein, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005250107.1

    UniProtKB/TrEMBL
    A0A0G2JLD8, B7WNJ6, B7Z268
    Conserved Domains (2) summary
    COG0629
    Location:29 → 134
    Ssb; Single-stranded DNA-binding protein [Replication, recombination and repair]
    TIGR00621
    Location:27 → 134
    ssb; single stranded DNA-binding protein (ssb)

  3. XM_005250049.6 → XP_005250106.1  single-stranded DNA-binding protein, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005250106.1

    UniProtKB/TrEMBL
    A0A0G2JLD8, B7WNJ6, B7Z268
    Conserved Domains (2) summary
    COG0629
    Location:29 → 134
    Ssb; Single-stranded DNA-binding protein [Replication, recombination and repair]
    TIGR00621
    Location:27 → 134
    ssb; single stranded DNA-binding protein (ssb)

  4. XM_005250048.6 → XP_005250105.1  single-stranded DNA-binding protein, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005250105.1

    UniProtKB/TrEMBL
    A0A0G2JLD8, B7WNJ6, B7Z268
    Conserved Domains (2) summary
    COG0629
    Location:29 → 134
    Ssb; Single-stranded DNA-binding protein [Replication, recombination and repair]
    TIGR00621
    Location:27 → 134
    ssb; single stranded DNA-binding protein (ssb)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315922.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    110921..118190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    143054147..143066314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358895.1 → XP_054214870.1  single-stranded DNA-binding protein, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLD8, B7WNJ6, B7Z268

  2. XM_054358894.1 → XP_054214869.1  single-stranded DNA-binding protein, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLD8, B7WNJ6, B7Z268

  3. XM_054358893.1 → XP_054214868.1  single-stranded DNA-binding protein, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLD8, B7WNJ6, B7Z268

  4. XM_054358892.1 → XP_054214867.1  single-stranded DNA-binding protein, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLD8, B7WNJ6, B7Z268
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q04837.1 GenPept UniProtKB/Swiss-Prot:Q04837

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