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    PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 [ Homo sapiens ]

    Gene ID: 9051, updated on 11-May-2012
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    Summary

    Official Symbol
    PSTPIP1provided by HGNC
    Official Full Name
    proline-serine-threonine phosphatase interacting protein 1provided by HGNC
    Primary source
    HGNC:9580
    See related
    Ensembl:ENSG00000140368; HPRD:05891; MIM:606347; Vega:OTTHUMG00000172594
    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
    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, Jul 2008]
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    Genomic context

    Location :
    15q24-q25.1
    Sequence :
    Chromosome: 15; NC_000015.9 (77287465..77329671)
    See PSTPIP1 in Epigenomics, MapViewer

    Chromosome 15 - NC_000015.9Genomic Context describing neighboring genes Neighboring gene reticulocalbin 2, EF-hand calcium binding domain Neighboring gene keratin 8 pseudogene 23 Neighboring gene tetraspanin 3 Neighboring gene NKF3 kinase family member Neighboring gene long intergenic non-protein coding RNA 597

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum. Nesterovitch AB, et al. Clin Exp Dermatol, 2011 Dec. PMID 21790734.
    2. Failure of anakinra treatment of pyoderma gangrenosum in an IBD patient and relevance to the PSTPIP1 gene. Lin Z, et al. Inflamm Bowel Dis, 2011 Jun. PMID 21438098.
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    4. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. Voss M, et al. BMC Immunol, 2009 Oct 6. PMID 19807924.
    5. 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. André MF, et al. Dig Dis Sci, 2010 Jun. PMID 19731031.

    See all (29) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. novel mutaations found in PSTPIP1 gene in patients with pyoderma gangrenosum
      Title: Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum.
    2. non-mutated gene and pyoderma gangrenosum in IBD unresponsive to anakinra treatment
      Title: Failure of anakinra treatment of pyoderma gangrenosum in an IBD patient and relevance to the PSTPIP1 gene.
    3. The CCTG repeat in the PSTPIP1 promoter may play a role in the pathogenesis of aseptic abscess syndrome and Crohn's disease.
      Title: 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.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. demonstrate that pyrin can recruit PSTPIP1 into aggregations (specks) of ASC, another pyrin binding protein. ASC specks are associated with inflammasome activity
      Title: Pyrin Modulates the Intracellular Distribution of PSTPIP1.
    6. PAPA syndrome occurs without identifiable mutation in CD2BB1
      Title: Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene.
    7. PSTPIP1 is a novel component of the leukocyte uropod that regulates endocytosis and cell migration
      Title: The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration.
    8. 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.
      Title: Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: 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.
    10. PSTPIP1 mutants require pyrin to induce formation of ASC pyroptosome, a molecular platform that recruits and activates caspase-1.
      Title: Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.
    Submit: New GeneRIF Correction See all (15)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_003969.2 NP_000368.1 WAS    BIND  PubMed PSTPIP1 interacts with WASP. 
    O43586 P00519 ABL1    HPRD  PubMed  
    O43586 P06729 CD2    HPRD  PubMed  
    O43586 Q9Y5K6 CD2AP    HPRD  PubMed  
    O43586 P48023 FASLG    HPRD  PubMed  
    O43586 O15553 MEFV    HPRD  PubMed  
    O43586 Q05209 PTPN12    HPRD  PubMed  
    O43586 Q99952 PTPN18    HPRD  PubMed  
    O43586 P42768 WAS    HPRD  PubMed  
    O43586 Q92558 WASF1    HPRD  PubMed  
    O43586 Q8IV90 WASF2    HPRD  PubMed  
    BioGRID:114513 BioGRID:106543 ABL1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:114513 BioGRID:106575 ACTB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:106961 ATIC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:115042 BZW1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:118793 BZW2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:107283 CARS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:107352 CD2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114513 BioGRID:114625 DDX21    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:108122 DNM2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:108516 FDFT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:109535 HSPA1A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:111746 PTPN12    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:114513 BioGRID:117693 PTPN18    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:114513 BioGRID:112062 RPL18A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112064 RPL21    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112067 RPL23A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112073 RPL26    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112078 RPL29    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112042 RPL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112079 RPL31    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112080 RPL32    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112083 RPL34    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:116392 RPL35    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112084 RPL35A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:117388 RPL36    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112092 RPL36A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:112087 RPL37A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:114166 RUVBL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:128444 TUBB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114513 BioGRID:113293 WAS    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114513 BioGRID:113295 WIPF1    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Inflammasomes, organism-specific biosystem (from REACTOME)
      Inflammasomes, organism-specific biosystemIn contrast to NOD1/2 some NLRPs function as large macromolecular complexes called 'Inflammasomes'. These multiprotein platforms control activation of the cysteinyl aspartate protease caspase-1 and t...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
      Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
    • T Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      T Cell Receptor Signaling Pathway, organism-specific biosystem
      T Cell Receptor Signaling Pathway
    • The NLRP3 inflammasome, organism-specific biosystem (from REACTOME)
      The NLRP3 inflammasome, organism-specific biosystemThe NLRP3 (Cryopyrin) inflammasome is currently the best characterized. It consists of NLRP3, ASC (PYCARD) and procaspase-1; CARD8 (Cardinal) is also suggested to be a component. It is activated by a...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    innate immune response TAS
    Traceable Author Statement
    more info
    		  
    nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cleavage furrow IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    proline-serine-threonine phosphatase-interacting protein 1
    Names
    proline-serine-threonine phosphatase-interacting protein 1
    CD2-binding protein 1
    CD2 antigen-binding protein 1
    CD2 cytoplasmic tail-binding protein
    PEST phosphatase-interacting protein 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007526.1 RefSeqGene

      Range
      5001..47207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_172

    mRNA and Protein(s)

    1. NM_003978.3 → NP_003969.2  proline-serine-threonine phosphatase-interacting protein 1

      Status: REVIEWED

      Source sequence(s)
      BC008602, DB123759
      Consensus CDS
      CCDS45312.1
      UniProtKB/Swiss-Prot
      O43586
      Related
      ENSP00000452746, OTTHUMP00000248825, ENST00000558012, OTTHUMT00000419373
      Conserved Domains (2) summary
      cd00174
      Location:364 – 415
      Blast Score: 184
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      cl12013
      Location:16 – 257
      Blast Score: 937
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000015.9 Reference GRCh37.p5 Primary Assembly

      Range
      77287465..77329671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000147.1 Alternate HuRef

      Range
      54044332..54086467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC090181.9 (51623..93740) None
    genomic CH471136.2 EAW99213.1
      EAW99214.1
      EAW99215.1
    mRNA AB451310.1 BAG70124.1
    mRNA AB451440.1 BAG70254.1
    mRNA AF038602.1 AAD11958.1
    mRNA AF038603.1 AAD11959.1
    mRNA AK298733.1 BAG60882.1
    mRNA AK304052.1 BAG64961.1
    mRNA AK308462.1 None
    mRNA AK309856.1 None
    mRNA AK310072.1 None
    mRNA AK310126.1 None
    mRNA AK316220.1 BAH14591.1
    mRNA AL110110.1 None
    mRNA BC008602.1 AAH08602.1
    mRNA DB123759.1 None
    mRNA U94778.1 AAD00762.1
    other-genetic DQ891779.2 ABM82705.1
    other-genetic DQ894963.2 ABM85889.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43586.1 GenPept UniProtKB/Swiss-Prot:O43586
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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