PSTPIP1, Official Symbol PSTPIP1provided by HGNC Official Full Name proline-serine-threonine phosphatase interacting protein 1provided by HGNC Primary source HGNC:HGNC:9580 See related Ensembl:ENSG00000140368 MIM:606347; AllianceGenome:HGNC:9580 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as H-PIP; PAPAS; CD2BP1; PSTPIP; CD2BP1L; CD2BP1S Summary 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] Expression Biased expression in bone marrow (RPKM 17.6), spleen (RPKM 10.0) and 9 other tissues See more Orthologs mouse all