Entrez gene ID | | 9051 |
Official gene symbol | | PSTPIP1 |
Full name | | proline-serine-threonine phosphatase interacting protein 1 |
Aliases | | ,CD2BP1,CD2BP1L,CD2BP1S,H-PIP,PAPAS,PSTPIP, |
Gene summary | | The protein encoded by this gene binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, negatively affecting CD2-triggered T cell activation. The encoded protein appears to be a scaffold protein and a regulator of the actin cytoskeleton. It has also been shown to bind ABL1, PTPN18, WAS, CD2AP, and PTPN12. Mutations in this gene are a cause of PAPA syndrome. [provided by RefSeq] |
Location | | Chromosome: 15 Locus: 15q24-q25.1 |
Gene position | | 77287465 - 77329671 Map Viewer |
Gene orientation | | plus |
Gene size | | 42207 bp |
Gene sequence |
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OMIM ID | | 606347 |
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