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Gene

SSBP1

single stranded DNA binding protein 1

Summary

Cytogenetic location
7q34
Coordinates
Chromosome 7: 141,738,358–141,750,488 (GRCh38)
Exons
7 exons across 12.1 kb
Protein
148 amino acids
Also known as
SSBP, mtSSB
MANE Select transcript
ENST00000265304.11NM_003143.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hereditary Optic Neuropathy

    • Hereditary Optic Atrophy

      Inherited loss of optic nerve fibres, most often autosomal dominant optic atrophy caused by changes in OPA1, and including rarer types caused by OPA3, DNM1L, SSBP1 and other genes.

      • ClinGen rates the link strong
      • 2 GenCC submitters rate it definitive or strong

How SSBP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where SSBP1 sits. SSBP1 and 14 genes near it on chromosome 7, from 141,244,423 to 142,244,422.Chromosome 77q34p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3141.4 Mb141.6 Mb141.8 Mb142 Mb142.2 MbTMEM178B: 141,074,038–141,480,380, forward strandTMEM178BAGK: 141,551,278–141,657,486, forward strandAGKDENND11: 141,656,728–141,702,185, reverse strandDENND11WEE2: 141,702,227–141,731,271, forward strandWEE2SSBP1: 141,738,358–141,750,488, forward strandSSBP1TAS2R3: 141,764,097–141,765,197, forward strandTAS2R3TAS2R4: 141,776,674–141,781,691, forward strandTAS2R4TAS2R5: 141,790,217–141,791,367, forward strandTAS2R5PRSS37: 141,836,300–141,841,487, reverse strandPRSS37OR9A1P: 141,887,148–141,888,092, forward strandOR9A1PMGAM: 141,907,813–142,106,747, forward strandMGAMOR9A4: 141,916,399–141,920,625, forward strandOR9A4CLEC5A: 141,927,357–141,947,007, reverse strandCLEC5ATAS2R38: 141,972,631–141,973,773, reverse strandTAS2R38MGAM2: 142,111,718–142,222,324, forward strandMGAM2Diagram of SSBP1: 7 exons on the forward strand of chromosome 7Exon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 1: 141,738,358–141,738,410, 53 basesExon 2: 141,739,124–141,739,190, 67 basesExon 3: 141,742,169–141,742,229, 61 basesExon 4: 141,743,561–141,743,701, 141 basesExon 5: 141,743,902–141,743,989, 88 basesExon 6: 141,745,496–141,745,584, 89 basesExon 7: 141,750,311–141,750,488, 178 bases12345675′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.7 kb of the gene's 12.1 kb; 447 of those bases code for the protein.

How a genome test reads SSBP1

2

positions in SSBP1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 12.1 kb of SSBP1, introns included, not only the 0.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SSBP1 gene: single stranded DNA binding protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ssbp1

Vancouver

Dante Labs. SSBP1 gene: single stranded DNA binding protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ssbp1

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