Seroatlas · Human Serome Atlas

PSTPIP1

Proline-serine-threonine phosphatase-interacting protein 1

Also known as: CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPAS, PPIP1_HUMAN, PSTPIP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O43586
Gene
PSTPIP1
Ensembl
ENSG00000140368
Chromosome
15
Canonical length
416 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol
Quaternary structure
Homotrimer

OverviewNCBI Gene

This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

416 residues, UniProt reviewed canonical sequence.

>O43586|PSTPIP1
     1  MMPQLQFKDA FWCRDFTAHT GYEVLLQRLL DGRKMCKDME ELLRQRAQAE ERYGKELVQI
    61  ARKAGGQTEI NSLRASFDSL KQQMENVGSS HIQLALTLRE ELRSLEEFRE RQKEQRKKYE
   121  AVMDRVQKSK LSLYKKAMES KKTYEQKCRD ADDAEQAFER ISANGHQKQV EKSQNKARQC
   181  KDSATEAERV YRQSIAQLEK VRAEWEQEHR TTCEAFQLQE FDRLTILRNA LWVHSNQLSM
   241  QCVKDDELYE EVRLTLEGCS IDADIDSFIQ AKSTGTEPPA PVPYQNYYDR EVTPLTSSPG
   301  IQPSCGMIKR FSGLLHGSPK TTSLAASAAS TETLTPTPER NEGVYTAIAV QEIQGNPASP
   361  AQEYRALYDY TAQNPDELDL SAGDILEVIL EGEDGWWTVE RNGQRGFVPG SYLEKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PSTPIP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.41
Highest tissue expression
55 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 55 nTPM
  • spleen: 30 nTPM
  • lymph node: 15 nTPM
  • appendix: 14 nTPM
  • lung: 9.6 nTPM
  • small intestine: 8.3 nTPM

Single-cell type

  • oocytes: 520 nCPM
  • neutrophils: 130 nCPM
  • neutrophil progenitors: 129 nCPM
  • monocytes: 77 nCPM
  • monocyte progenitors: 70 nCPM
  • hofbauer cells: 66 nCPM

Immune cell

  • neutrophil: 88 nTPM
  • classical monocyte: 74 nTPM
  • eosinophil: 74 nTPM
  • myeloid DC: 61 nTPM
  • total PBMC: 44 nTPM
  • NK-cell: 42 nTPM

Brain region

  • thalamus: 4.2 nTPM
  • choroid plexus: 3.8 nTPM
  • medulla oblongata: 3.2 nTPM
  • midbrain: 3 nTPM
  • spinal cord: 2.9 nTPM
  • pons: 2.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PSTPIP1.

Disease | AllUniProt

Conditions PSTPIP1 is implicated in, by any mechanism.

  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) MIM:604416
  • Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia (AICZC) MIM:601979

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 832 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
  • Hyperzincemia and hypercalprotectinemia
  • PSTPIP1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.76
gnomAD pLI
0
gnomAD missense Z
0.92
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PSTPIP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PSTPIP1 as an antibody target. Whether an autoantibody or antibody against PSTPIP1 could matter depends on whether native PSTPIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PSTPIP1 is annotated at the cell surface, where native PSTPIP1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PSTPIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PSTPIP1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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