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Gene : PSTPIP1 Homo sapiens

Name  ? proline-serine-threonine phosphatase interacting protein 1 Cytological Location  15q24.3
Brief Description  proline-serine-threonine phosphatase interacting protein 1
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. 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]
  • synonyms:
  • CD2BP1L,
  • PSTPIP,
  • CD2BP1S,
  • HGNC:9580,
  • CD2 antigen-binding protein 1,
  • H-PIP,
  • H-PIP,
  • PEST phosphatase-interacting protein 1,
  • CD2BP1S,
  • CD2BP1,
  • CD2 cytoplasmic tail-binding protein,
  • CD2BP1L,
  • CD2BP1,
  • PSTPIP1,
  • PAPAS,
  • NM_003978,
  • OTTHUMG00000172594,
  • U94778,
  • PSTPIP,
  • PAPAS,
  • uc002bcf.3
  • identifiers:
  • 9051,
  • ENSG00000140368,
  • PSTPIP1

Genome feature

Region: gene ? Length: 42796  
Location: 15:76994680-77037475 Cyto location: 15q24.3


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1 Diseases

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849 SN Ps

5 Cross References

20 Data Sets

15 Homologues

0 Located Features

90 Rna Seq Results