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proline-serine-threonine phosphatase-interacting protein 1 (PEST phosphatase-interacting protein 1, CD2-binding protein 1, H-PIP, PSTPIP1, CD2BP1)
Function:
1) regulation of the actin cytoskeleton
2) regulation of WAS actin-bundling activity
3) ABL1 dephosphorylation via interaction with ABL1 & PTPN18
4) scaffold protein between PTPN12 & WAS
5) facilitates PTPN12 dephosphorylation of WAS
6) may couple CD2 & CD2AP to WAS
7) acts downstream of CD2 & CD2AP to recruit WAS to T cell:APC contact site
8) actin polymerization for synapse induction during T-cell activation
9) down-regulates CD2-stimulated adhesion via coupling of PTPN12 to CD2
10) interacts with PTPN18, ABL1, CD2AP, WAS,CD2, PTPN12, MEFV
11) dephosphorylated on Tyr-345 by PTPN18, negatively regulates association of PSTPIP1 with SH2 domain-containing proteins
12) phosphorylation of Tyr-345 required for phosphorylation at other Tyr
13) phosphorylation induced by activation of EGFR & PDGFR is ABL1-dependent
14) interacts with FASLG
Structure:
- the coiled domain mediates interaction with PTPN18, PTPN12 & CD2AP
- the SH3 domain mediates interaction with WAS & ABL1 (putative)
- the SH3 & coiled-coil domains are necessary for interaction with MEFV
- contains 1 FCH domain
- contains 1 SH3 domain
Compartment: cytoplasm
Alternative splicing: named isoforms=2
Expression:
- expressed in leukocytes, granulocytes, monocytes, T-cells, NK cells, spleen
- weakly expressed in thymus, small intestine, lung, placenta
Pathology:
- mutations PSTPIP1 are the cause of PAPA syndrome
Related
PAPA syndrome; pyogenic sterile arthritis, pyoderma gangrenosum, & acne; familial recurrent arthritis
General
phosphoprotein
Properties
SIZE: MW = 48 kD
entity length = 416 aa
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: FCH domain {5-82}
coiled coil {166-212}
Tyr phosphorylation site {Y345}
src homology 3 [SH3] domain
SITE: 359-416
Database Correlations
OMIM correlations
MORBIDMAP 606347
UniProt O43586
PFAM correlations
References
- UniProt :accession O43586
- INFEVERS: Repertory of FMF & hereditary autoinflammatory
disorders mutations
http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=5
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/PSTPIP1