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Gene

PSTPIP1

proline-serine-threonine phosphatase interacting protein 1

Summary

Cytogenetic location
15q24.3
Coordinates
Chromosome 15: 76,995,126–77,037,475 (GRCh38)
Exons
15 exons across 42.4 kb
Protein
416 amino acids
Inheritance
Autosomal dominant
Also known as
PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS
MANE Select transcript
ENST00000558012.6NM_003978.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Rare Monogenic Autoinflammatory Diseases

    • PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne)Autosomal dominant

      Episodes of sterile joint inflammation with severe skin ulcers and acne, caused by variants in PSTPIP1.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PSTPIP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where PSTPIP1 sits. PSTPIP1 and 5 genes near it on chromosome 15, from 76,516,301 to 77,516,300.Chromosome 1515q24.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.376.6 Mb76.8 Mb77 Mb77.2 Mb77.4 MbSCAPER: 76,347,904–76,905,970, reverse strandSCAPERRCN2: 76,931,649–76,954,393, forward strandRCN2PSTPIP1: 76,995,126–77,037,475, forward strandPSTPIP1TSPAN3: 77,041,404–77,083,984, reverse strandTSPAN3PEAK1: 77,100,656–77,420,301, reverse strandPEAK1HMG20A: 77,419,830–77,496,554, forward strandHMG20ADiagram of PSTPIP1: 15 exons on the forward strand of chromosome 15Exon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 1: 76,995,126–76,995,609, 484 basesExon 2: 77,018,148–77,018,248, 101 basesExon 3: 77,018,457–77,018,531, 75 basesExon 4: 77,025,284–77,025,318, 35 basesExon 5: 77,025,498–77,025,604, 107 basesExon 6: 77,027,852–77,027,914, 63 basesExon 7: 77,028,554–77,028,652, 99 basesExon 8: 77,029,529–77,029,574, 46 basesExon 9: 77,030,502–77,030,581, 80 basesExon 10: 77,031,180–77,031,278, 99 basesExon 11: 77,032,298–77,032,394, 97 basesExon 12: 77,032,862–77,032,952, 91 basesExon 13: 77,035,508–77,035,563, 56 basesExon 14: 77,035,802–77,035,935, 134 basesExon 15: 77,037,045–77,037,475, 431 bases12468101214155′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 2 kb of the gene's 42.4 kb; 1,251 of those bases code for the protein.

How a genome test reads PSTPIP1

2

positions in PSTPIP1 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 42.4 kb of PSTPIP1, introns included, not only the 2 kb of exons.

Traits linked to PSTPIP1

The Human Phenotype Ontology lists these as features of the rare conditions PSTPIP1 can cause. Each trait's page lists the other genes linked to it.

External links

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.). PSTPIP1 gene: proline-serine-threonine phosphatase interacting protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pstpip1

Vancouver

Dante Labs. PSTPIP1 gene: proline-serine-threonine phosphatase interacting protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pstpip1

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