Proline/Serine/Threonine Phosphatase-Interacting Protein 1

Alternative Names

  • PSTPIP1
  • PSTPIP
  • CD2 Antigen-Binding Protein 1
  • CD2BP1
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OMIM Number

606347

NCBI Gene ID

9051

Uniprot ID

O43586

Length

42,796 bases

No. of Exons

20

No. of isoforms

2

Protein Name

Proline-serine-threonine phosphatase-interacting protein 1

Molecular Mass

47591 Da

Amino Acid Count

416

Genomic Location

chr15:76,994,679-77,037,474

Gene Map Locus
15q24.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003978.5:c.203C>ALebanonNC_000015.10:g.77018522C>AUncertain SignificanceFamilial Mediterranean FeverNG_007526.1:g.28399C>A; NM_003978.5:c.203C>A; NP_003969.2:p.Thr68Lys201872851
NM_003978.5:c.37-10081C>GLebanonNC_000015.10:g.77008067C>GUncertain SignificanceNG_007526.1:g.17944C>G; NM_003978.5:c.37-10081C>G1020233393
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