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PSTPIP1 Gene

protein-coding   GIFtS: 63
GCID: GC15P077287

Proline-Serine-Threonine Phosphatase Interacting Protein...

  See PSTPIP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Proline-Serine-Threonine Phosphatase Interacting Protein 11 2     CD2-Binding Protein 12 3
PEST Phosphatase-Interacting Protein 11 2 3     PAPAS2 5
CD2BP12 3 5     PSTPIP2 5
CD2 Antigen-Binding Protein 11 2     CD2BP1L2
CD2 Cytoplasmic Tail-Binding Protein1 2     CD2BP1S2
H-PIP2 3     Proline-Serine-Threonine Phosphatase-Interacting Protein 12

External Ids:    HGNC: 95801   Entrez Gene: 90512   Ensembl: ENSG000001403687   OMIM: 6063475   UniProtKB: O435863   

Export aliases for PSTPIP1 gene to outside databases

Previous GC identifers: GC15P073176 GC15P070377 GC15P074863 GC15P075003 GC15P075074 GC15P054044


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PSTPIP1 Gene:
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)

GeneCards Summary for PSTPIP1 Gene:
PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) is a protein-coding gene. Diseases associated with PSTPIP1 include pyoderma, and pyogenic sterile arthritis, pyoderma gangrenosum, and acne. GO annotations related to this gene include protein phosphatase binding and actin binding. An important paralog of this gene is PSTPIP2.

UniProtKB/Swiss-Prot: PPIP1_HUMAN, O43586
Function: Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the
interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein
between PTPN12 and WAS and allow PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and
CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T-cell:APC contact site so as to promote the
actin polymerization required for synapse induction during T-cell activation (By similarity). Down-regulates
CD2-stimulated adhesion through the coupling of PTPN12 to CD2. Also has a role in innate immunity and the
inflammatory response. Recruited to inflammasomes by MEFV. Induces formation of pyroptosomes, large
supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis.
Binding to MEFV allows MEFV to bind to PYCARD and facilitates pyroptosome formation. Regulates endocytosis and
cell migration in neutrophils

Gene Wiki entry for PSTPIP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PSTPIP1 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   Roaz   YY1   E2F   E2F-1   ZIC2/Zic2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSTPIP1 promoter sequence
   Search Chromatin IP Primers for PSTPIP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PSTPIP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q24-q25.1   Ensembl cytogenetic band:  15q24.3   HGNC cytogenetic band: 15q24-q25.1

PSTPIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSTPIP1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P077287:  view genomic region     (about GC identifiers)

Start:
77,285,700 bp from pter      End:
77,329,673 bp from pter
Size:
43,974 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PPIP1_HUMAN, O43586 (See protein sequence)
Recommended Name: Proline-serine-threonine phosphatase-interacting protein 1  
Size: 416 amino acids; 47591 Da
Subunit: Homodimer (PubMed:19584923). Homotrimer (PubMed:17964261). Interacts (via coiled-coil domain) with CD2AP,
PTPN12 and PTPN18. Interacts (via SH3 domain) with ABL1 and WAS. Interacts (via SH3 and coiled-coil domains) with
MEFV (via B-box zinc finger); the interaction allows binding of MEFV to PYCARD and facilitates formation of
PYCARD pyroptosomes. Interacts with CD2, DNM2 and FASLG
1 PDB 3D structure from and Proteopedia for PSTPIP1:
2DIL (3D)    
Secondary accessions: B5BU74 B5BUK4 O43585 O95657
Alternative splicing: 2 isoforms:  O43586-1   O43586-2   

Explore the universe of human proteins at neXtProt for PSTPIP1: NX_O43586

Explore proteomics data for PSTPIP1 at MOPED

Post-translational modifications: 

  • Dephosphorylated on Tyr-345 by PTPN18, this event negatively regulates the association of PSTPIP1 with SH2
    domain-containing proteins as tyrosine kinase. Phosphorylation of Tyr-345 is probably required for subsequent
    phosphorylation at other tyrosine residues. Phosphorylation is induced by activation of the EGFR and PDGFR in a
    ABL1 dependent manner. The phosphorylation regulates the interaction with WAS and with MEFV (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PSTPIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003969.2  
    ENSEMBL proteins: 
     ENSP00000453268   ENSP00000452986   ENSP00000452746   ENSP00000454118   ENSP00000368914  
     ENSP00000453531   ENSP00000454127   ENSP00000453372   ENSP00000452743   ENSP00000453218  
     ENSP00000453382   ENSP00000452779   ENSP00000267939  
    Reactome Protein details: O43586

    PSTPIP1 Human Recombinant Protein Products:

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    Novus Biologicals PSTPIP1 Proteins
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    ProSpec Recombinant Protein for PSTPIP1
    Cloud-Clone Corp. Proteins for PSTPIP1

     
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    antibodies-online proteins for PSTPIP1 (7 products) 

     
    antibodies-online peptides for PSTPIP1

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    antibodies-online antibodies for PSTPIP1 (22 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001060 FCH_dom
     IPR001452 SH3_domain
     IPR013315 Spectrin_alpha_SH3

    Graphical View of Domain Structure for InterPro Entry O43586

    ProtoNet protein and cluster: O43586

    2 Blocks protein domains:
    IPB001060 Cdc15/Fes/CIP4
    IPB001452 SH3 domain signature


    UniProtKB/Swiss-Prot: PPIP1_HUMAN, O43586
    Domain: The FCH domain is important for filament formation. The SH3 domain is not required for filament formation
    or localization to the uropod
    Similarity: Contains 1 FCH domain
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with PSTPIP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPIP1_HUMAN, O43586
    Function: Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the
    interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein
    between PTPN12 and WAS and allow PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and
    CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T-cell:APC contact site so as to promote the
    actin polymerization required for synapse induction during T-cell activation (By similarity). Down-regulates
    CD2-stimulated adhesion through the coupling of PTPN12 to CD2. Also has a role in innate immunity and the
    inflammatory response. Recruited to inflammasomes by MEFV. Induces formation of pyroptosomes, large
    supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis.
    Binding to MEFV allows MEFV to bind to PYCARD and facilitates pyroptosome formation. Regulates endocytosis and
    cell migration in neutrophils

         Genatlas biochemistry entry for PSTPIP1:
    proline-serine-threonine phosphatase interacting protein 1,restricted to hemopoietic cells,restricted to T
    lymphocytes and NK cells,CD2 tail binding protein,with two alternatively spliced isoforms L (large) and S
    (short),involved in the control processes for cell adhesion,homolog to S pombe cdc15

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI16318909
    GO:0016491oxidoreductase activity ----
    GO:0019903protein phosphatase binding IEA--
         
    Find genes that share ontologies with PSTPIP1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pstpip1):
     hematopoietic system  immune system  no phenotypic analysis 

    Find genes that share phenotypes with PSTPIP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PSTPIP1: Pstpip1tm1.1Dtg Pstpip1tm1Spg

       genOway: Develop your customized and physiologically relevant rodent model for PSTPIP1

    miRNA
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    GenScript: all cDNA clones in your preferred vector: PSTPIP1 (NM_003978)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PPIP1_HUMAN, O43586: Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, lamellipodium (By similarity). Cell
    projection, uropodium. Cytoplasm, perinuclear region (By similarity). Cleavage furrow (By similarity).
    Note=During interphase, colocalizes with F-actin in the cortical cytoskeleton, lamellipodia, and stress fibers.
    In dividing cells, colocalizes with the F-actin rich cytokinetic cleavage furrow. Colocalized with WAS to
    filamentous structures within the cytoplasm. Colocalized with PTPN12 in the cytoplasm and the perinuclear region.
    Colocalized with CD2AP and WAS in the actin cytoskeleton. Colocalized with CD2, CD2AP and WAS at the site of
    T-cell:APC contact (By similarity). In monocytes, forms a branched filamentous network in the cytoplasm. In
    migrating neutrophils, localizes most strongly to the trailing edge of the uropod where it colocalizes with
    PIP5K1C. In transfected cells, forms relatively straight filaments radiating out from the nucleus. Colocalizes
    with MEFV, particularly at the branch point of filaments. Filament formation requires an intact tubulin
    cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    nucleus2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0001931uropod IEA--
    GO:0005826actomyosin contractile ring IEA--
    GO:0005829cytosol TAS--
    GO:0030027lamellipodium IEA--

    Find genes that share ontologies with PSTPIP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PSTPIP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.68
    Inflammasomes0.00
    NOD-like receptor signaling pathway0.37
    2B cell receptor signaling pathway (KEGG)
    TCR Signaling Pathway0.36


    Find genes that share SuperPaths with PSTPIP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PSTPIP1
        TCR Signaling Pathway

    1 Reactome Pathway for PSTPIP1
        The NLRP3 inflammasome


    1 Kegg Pathway  (Kegg details for PSTPIP1):
        NOD-like receptor signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PSTPIP1: 
              Antiviral Response in human mouse rat
              Inflammasomes in human mouse rat
              Antibacterial Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PSTPIP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PSTPIP1 (O435861, 2, 3 ENSP000003689144) via UniProtKB, MINT, STRING, and/or I2D (see all 205)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0006954inflammatory response IEA--
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction TAS9857189
    GO:0035872nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS--

    Find genes that share ontologies with PSTPIP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PSTPIP1 (PPIP1)

    2 Novoseek inferred chemical compound relationships for PSTPIP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 41 4 18433299 (1), 17213252 (1), 16038965 (1)
    tyrosine 40.3 11 9804817 (2), 14595024 (1), 17283076 (1), 16204241 (1) (see all 6)



    Find genes that share compounds with PSTPIP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PSTPIP1 gene: 
    NM_003978.3  

    Unigene Cluster for PSTPIP1:

    Proline-serine-threonine phosphatase interacting protein 1
    Hs.129758  [show with all ESTs]
    Unigene Representative Sequence: AK309856
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000558407 ENST00000559785(uc010bkt.1) ENST00000558012(uc002bcf.2)
    ENST00000560223(uc010bku.1) ENST00000559795 ENST00000379595 ENST00000559750
    ENST00000560621 ENST00000560377(uc010umo.1) ENST00000560796(uc010bkv.1)
    ENST00000559161 ENST00000559295(uc002bci.1) ENST00000559859 ENST00000559856
    ENST00000561315 ENST00000557995 ENST00000558870 ENST00000560064
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      QuantiTect SYBR Green Assays in human, mouse, rat PSTPIP1
      QuantiFast Probe-based Assays in human, mouse, rat PSTPIP1

    Additional mRNA sequence: 

    AB451310.1 AB451440.1 AF038602.1 AF038603.1 AK308462.1 AK309856.1 AK310072.1 AK310126.1 
    AK316220.1 AL110110.1 BC008602.1 U94778.1 

    8 DOTS entries:

    DT.207621  DT.100775370  DT.92420024  DT.92009946  DT.121074482  DT.121074502  DT.91686304  DT.95371253 

    Selected AceView cDNA sequences (see all 55):

    CR610262 AF038603 NM_003978 BG819706 BC008602 CR593209 BQ029347 BM563898 
    BQ720739 BQ051519 BP381604 BG820623 AI865165 BI906497 CA426976 AL705296 
    BF530009 AF038602 BI518988 BI910444 BI912313 BM547486 BI906059 BX377932 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PSTPIP1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b
    SP1:                    -                 -                                         -           -                                 
    SP2:                    -                 -                                         -                 -                           
    SP3:                    -                 -                                                                                       
    SP4:                                                                                                                              
    SP5:                                                                                            -     -                           


    ECgene alternative splicing isoforms for PSTPIP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PSTPIP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAAAGAGGT
    PSTPIP1 Expression
    About this image


    PSTPIP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone Marrow
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Hair (Integumentary System)
             Fetal Matrix Cells Hair Follicle
    PSTPIP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PSTPIP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.129758

    UniProtKB/Swiss-Prot: PPIP1_HUMAN, O43586
    Tissue specificity: Highly expressed in the peripheral blood leukocytes, granulocytes and monocytes, namely in
    T-cells and natural killer cells, and in spleen. Weakly expressed in the thymus, small intestine, lung and
    placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PSTPIP1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PSTPIP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pstpip11 , 5 proline-serine-threonine phosphatase-interacting protein more1, 5 85.62(n)1
    87.95(a)1
      9 (30.13 cM)5
    192001  NM_011193.21  NP_035323.21 
     560899625 
    chicken
    (Gallus gallus)
    Aves PSTPIP11 proline-serine-threonine phosphatase interacting protein more 68.16(n)
    68.41(a)
      415349  XM_413733.4  XP_413733.4 
    lizard
    (Anolis carolinensis)
    Reptilia PSTPIP16
    proline-serine-threonine phosphatase interacting p...
    64(a)
    1 ↔ 1
    GL343374.1(932597-952747)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB198683.22   -- 72.15(n)    CB198683.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pstpip1a1 proline-serine-threonine phosphatase interacting protein more 59.34(n)
    57.49(a)
      571331  NM_001045216.1  NP_001038681.1 


    ENSEMBL Gene Tree for PSTPIP1 (if available)
    TreeFam Gene Tree for PSTPIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PSTPIP1 gene
    PSTPIP22  
    5 SIMAP similar genes for PSTPIP1 using alignment to 12 protein entries:     PPIP1_HUMAN (see all proteins):
    GRAP2    PSTPIP2    FCHO2    ARHGEF7    SH3GL2

    Find genes that share paralogs with PSTPIP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PSTPIP1 (see all 1086)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289390891,2,,4
    CPAPA syndrome (PAPAS)4 pathogenic154081440(+) TCTACA/C/GAGGAA 3 K Q E mis10--------
    rs289393811,2,4
    PAPA syndrome (PAPAS)4--see VAR_0235222 mis40--------
    VAR_0706354
    PAPA syndrome (PAPAS)4--see VAR_0706352 E K mis40--------
    rs1048954181,2
    Cuntested154081488(+) ACATCA/GACAGT 2 N D mis10--------
    rs1141324801,2
    F--54042370(+) TGGTCC/TGTGTG 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1421694861,2
    --54042522(+) CTCTCC/TAGAGG 1 -- us2k10--------
    rs1828371781,2
    C--54042577(+) GCATGA/GCCCTC 1 -- us2k10--------
    rs1871858781,2
    --54042754(+) TGCCTC/GCAGGG 1 -- us2k10--------
    rs1511857531,2
    --54042755(+) GCCTCC/TAGGGA 1 -- us2k10--------
    rs1380051121,2
    --54042830(+) GGGCA-/GGGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PSTPIP1 (77285700 - 77329673 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for PSTPIP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749898CNV Deletion23290073
    nsv1622CNV Insertion18451855
    nsv509576CNV Insertion20534489
    nsv904414CNV Loss21882294
    nsv511547CNV Loss21212237
    nsv833058CNV Loss17160897
    nsv517068CNV Gain+Loss19592680
    dgv757e1CNV Complex17122850
    esv259979OTHER Complex20981092

    Human Gene Mutation Database (HGMD): PSTPIP1
    Locus Specific Mutation Databases (LSDB): PSTPIP1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606347   
    OMIM disorders: 604416  
    UniProtKB/Swiss-Prot: PPIP1_HUMAN, O43586
  • PAPA syndrome (PAPAS) [MIM:604416]: Characterized by autosomal dominant inheritance of early-onset,
    primarily affecting skin and joint tissues. Recurring inflammatory episodes lead to accumulation of sterile,
    pyogenic, neutrophil-rich material within the affected joints, ultimately resulting in significant destruction.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for PSTPIP1:    
    About MalaCards
    pyoderma    pyogenic sterile arthritis, pyoderma gangrenosum, and acne    pyoderma gangrenosum    psoriatic juvenile idiopathic arthritis
    acne    familial mediterranean fever    wiskott-aldrich syndrome

    3 diseases from the University of Copenhagen DISEASES database for PSTPIP1:
    Pyoderma gangrenosum     Familial Mediterranean fever     Acne

    Find genes that share disorders with PSTPIP1           About GenesLikeMe

    7 Novoseek inferred disease relationships for PSTPIP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyoderma gangrenosum 88 10 19700023 (1), 15916580 (1), 17213252 (1), 15102098 (1) (see all 6)
    pyogenic arthritis 85.7 1 19700023 (1)
    familial mediterranean fever 81.4 1 19584923 (1)
    wiskott-aldrich syndrome 59.9 1 12530983 (1)
    arthritis 51.3 8 15916580 (1), 17213252 (1), 19290936 (1), 19584923 (1)
    inflammatory bowel diseases 23.3 1 15102098 (1)
    inflammation 17 2 19290936 (1)

    Genetic Association Database (GAD): PSTPIP1
    Human Genome Epidemiology (HuGE) Navigator: PSTPIP1 (4 documents)

    Export disorders for PSTPIP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PSTPIP1 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with PSTPIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A cdc15-like adaptor protein (CD2BP1) interacts with the CD2 cytoplasmic domain and regulates CD2-triggered adhesion. (PubMed id 9857189)1, 2, 3, 9 Li J.... Reinherz E.L. (EMBO J. 1998)
    2. Pyrin Modulates the Intracellular Distribution of PSTPIP1. (PubMed id 19584923)1, 2, 9 Waite A.L....Gumucio D.L. (PLoS ONE 2009)
    3. The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration. (PubMed id 18480402)1, 2, 9 Cooper K.M....Huttenlocher A. (Mol. Biol. Cell 2008)
    4. Autoinflammatory gene mutations in BehAset's disease. (PubMed id 17213252)1, 4, 9 KonAc-Paut I....Touitou I. (Ann. Rheum. Dis. 2007)
    5. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. (PubMed id 14595024)1, 2, 9 Shoham N.G....Kastner D.L. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    6. 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. (PubMed id 19731031)1, 4 AndrAc M.F....Creveaux I. (Dig. Dis. Sci. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M.... Janssen O. (BMC Immunol. 2009)
    9. Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis. (PubMed id 18576390)1, 4 Day T.G....Donn R.P. (Arthritis Rheum. 2008)
    10. Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. (PubMed id 17964261)1, 2 Yu J.W....Alnemri E.S. (Mol. Cell 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9051 HGNC: 9580 AceView: PSTPIP1 Ensembl:ENSG00000140368 euGenes: HUgn9051
    ECgene: PSTPIP1 Kegg: 9051 H-InvDB: PSTPIP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PSTPIP1 Pharmacogenomics, SNPs, Pathways
    INFEVERShttp://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=5
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PSTPIP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PSTPIP1 gene:
    Search GeneIP for patents involving PSTPIP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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