Property Summary

NCBI Gene PubMed Count 41
PubMed Score 76.96
PubTator Score 44.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -3.566 6.8e-06
tuberculosis 1.100 2.9e-06
interstitial cystitis 1.400 1.1e-03

Gene RIF (23)

PMID Text
26179737 PSTPIP1 was found to interact with pyrin at the leading edge during cell migration.
26025129 genetic polymorphism is associated with hyperzincemia and hypercalprotectinemia
25486428 Molecular interactions between HPIP and FAK, and HPIP and calpain2 regulate cell adhesion and migration through modulation of focal adhesion dynamics.
25040622 we have shown that PSTPIP1 regulates T-cell activation upon CD3 and CD28 stimulation, independently of CD2 costimulation. PSTPIP1 acts downstream of proximal TCR signaling, inhibiting several transcription factors.
24960411 Case Report: missense mutation in PSTPIP1, the gene responsible for PAPA syndrome.
24421327 PSTPIP1 has a role in the pathogenesis of pyoderma gangrenosum through filopodia formation resulting in extracellular matrix degradation
21790734 novel mutaations found in PSTPIP1 gene in patients with pyoderma gangrenosum
21438098 non-mutated gene and pyoderma gangrenosum in IBD unresponsive to anakinra treatment
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19731031 The CCTG repeat in the PSTPIP1 promoter may play a role in the pathogenesis of aseptic abscess syndrome and Crohn's disease.
19731031 Observational study of gene-disease association. (HuGE Navigator)
19700023 PAPA syndrome occurs without identifiable mutation in CD2BB1
19584923 demonstrate that pyrin can recruit PSTPIP1 into aggregations (specks) of ASC, another pyrin binding protein. ASC specks are associated with inflammasome activity
18576390 These findings support the use of monogenic loci as candidates for investigating the genetic component of complex disease and provide preliminary evidence of association between SNPs in autoinflammatory genes and psoriatic JIA.
18576390 Observational study of gene-disease association. (HuGE Navigator)
18480402 PSTPIP1 is a novel component of the leukocyte uropod that regulates endocytosis and cell migration
17964261 PSTPIP1 mutants require pyrin to induce formation of ASC pyroptosome, a molecular platform that recruits and activates caspase-1.
17213252 Observational study of gene-disease association. (HuGE Navigator)
16670297 CD2BP1 directly and negatively impacts T cell activation via isolated CD2 antigen triggering or T-cell receptor stimulation dependent on coordinate CD2 engagement.
16204241 the intracellular Fas ligand (FasL) domain binding to the adaptor protein PSTPIP results in a cytoplasmic localization of FasL
14595024 PSTPIP1/CD2BP1 protein binds to pyrin
12530983 PSTPIP1 acts downstream of CD2/CD2AP to link CD2 engagement to the WASp-evoked actin polymerization required for synapse formation and T cell activation.
11971877 CD2BP1-mediated biochemical pathway(s) may function in common inflammatory disorders with apparent etiological overlap, such as rheumatoid arthritis and inflammatory bowel disease

AA Sequence

MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQIARKAGGQTEI      1 - 70
NSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMES     71 - 140
KKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHR    141 - 210
TTCEAFQLQEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPA    211 - 280
PVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAV    281 - 350
QEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL        351 - 416
//

Text Mined References (44)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26179737 2015 Pyrin-PSTPIP1 colocalises at the leading edge during cell migration.
26025129 2015 Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
25486428 2015 Hematopoietic PBX-interacting protein (HPIP) is over expressed in breast infiltrative ductal carcinoma and regulates cell adhesion and migration through modulation of focal adhesion dynamics.
25416956 2014 A proteome-scale map of the human interactome network.
25040622 2014 Proline-serine-threonine phosphatase interacting protein 1 inhibition of T-cell receptor signaling depends on its SH3 domain.
24960411 A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.
24421327 2014 The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages.
24407287 2014 Promyelocytic leukemia protein interacts with the apoptosis-associated speck-like protein to limit inflammasome activation.
22161697 2012 Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).
21790734 2011 Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21438098 2011 Failure of anakinra treatment of pyoderma gangrenosum in an IBD patient and relevance to the PSTPIP1 gene.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19946888 2010 Defining the membrane proteome of NK cells.
19807924 2009 Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.
19731031 2010 Longest form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with Crohn disease in French patients.
19700023 2009 Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene.
19584923 2009 Pyrin Modulates the Intracellular Distribution of PSTPIP1.
19109554 2009 Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin.
19054851 2008 Human protein factory for converting the transcriptome into an in vitro-expressed proteome,.
18576390 2008 Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
18480402 2008 The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration.
17964261 2007 Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17213252 2007 Autoinflammatory gene mutations in Behçet's disease.
16670297 2006 CD2BP1 modulates CD2-dependent T cell activation via linkage to protein tyrosine phosphatase (PTP)-PEST.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16318909 2006 Regulation of FasL expression: a SH3 domain containing protein family involved in the lysosomal association of FasL.
16204241 2005 Binding of the intracellular Fas ligand (FasL) domain to the adaptor protein PSTPIP results in a cytoplasmic localization of FasL.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14707117 2004 Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich syndrome protein (WASp) tyrosine phosphorylation is required for coupling T cell antigen receptor engagement to WASp effector function and T cell activation.
14595024 2003 Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.
12530983 2003 The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11971877 2002 Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.
11711533 2002 PSTPIP is a substrate of PTP-PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP.
11163214 2000 Cytoskeletal protein PSTPIP1 directs the PEST-type protein tyrosine phosphatase to the c-Abl kinase to mediate Abl dephosphorylation.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
9857189 1998 A cdc15-like adaptor protein (CD2BP1) interacts with the CD2 cytoplasmic domain and regulates CD2-triggered adhesion.
9804817 1998 PSTPIP 2, a second tyrosine phosphorylated, cytoskeletal-associated protein that binds a PEST-type protein-tyrosine phosphatase.
9488710 1998 Tyrosine phosphorylation regulates the SH3-mediated binding of the Wiskott-Aldrich syndrome protein to PSTPIP, a cytoskeletal-associated protein.
9422760 1998 Identification of a novel polyproline recognition site in the cytoskeletal associated protein, proline serine threonine phosphatase interacting protein.
9265651 1997 PSTPIP: a tyrosine phosphorylated cleavage furrow-associated protein that is a substrate for a PEST tyrosine phosphatase.