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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
    mouse all
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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: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 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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    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
    		not available

    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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