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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PSTPIP1 Gene

protein-coding   GIFtS: 63
GCID: GC15P077287

Proline-Serine-Threonine Phosphatase Interacting Protein...

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pyoderma gangrenosum, and among its related super-pathways are NOD1/2 Signaling Pathway and The NLRP3 inflammasome. 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 the WAS actin-bundling activity. Bridges
the interaction between ABL1 and PTPN18 leading to the ABL1 dephosphorylation. May play a role as a scaffold
protein between PTPN12 and WAS and allows 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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PSTPIP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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: Interacts with PTPN18, ABL1, CD2AP and WAS (By similarity). Interacts with CD2, PTPN12 and MEFV/pyrin.
Interacts with FASLG
Subcellular location: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Cell projection,
lamellipodium (By similarity). Cytoplasm, perinuclear region (By similarity). Cleavage furrow (By similarity).
Note=Colocalized with the cortical actin cytoskeleton during interphase, lamellipodia and 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)
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:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43586

  • PSTPIP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PSTPIP1 Protein Expression
    REFSEQ proteins: NP_003969.2  
    ENSEMBL proteins: 
     ENSP00000453268   ENSP00000452986   ENSP00000452746   ENSP00000454118   ENSP00000368914  
     ENSP00000453531   ENSP00000454127   ENSP00000453372   ENSP00000452743   ENSP00000453218  
     ENSP00000453382   ENSP00000452779   ENSP00000267939  
    Reactome Protein details: O43586
    Human Recombinant Protein Products for PSTPIP1: 
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    Novus Biologicals PSTPIP1 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PSTPIP1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005826actomyosin contractile ring IEA--
    GO:0005829cytosol TAS--
    GO:0030027lamellipodium IEA--
    GO:0032154cleavage furrow IEA--

    PSTPIP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001060 FCH_dom
     IPR001452 SH3_domain
     IPR013315 Spectrin_alpha_SH3
     IPR011254 Prismane-like

    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 coiled domain mediates interaction with PTPN18, PTPN12 and CD2AP. The SH3 domain mediates interaction
    with WAS and ABL1 (By similarity). The SH3 and coiled-coil domains are necessary for the interaction with MEFV
    Similarity: Contains 1 FCH domain
    Similarity: Contains 1 SH3 domain


    PSTPIP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPIP1_HUMAN, O43586
    Function: Involved in regulation of the actin cytoskeleton. May regulate the WAS actin-bundling activity. Bridges
    the interaction between ABL1 and PTPN18 leading to the ABL1 dephosphorylation. May play a role as a scaffold
    protein between PTPN12 and WAS and allows 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

         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 (GO ID links to tree view):    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--
         
    PSTPIP1 for ontologies           About GeneDecksing


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

    PSTPIP1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PSTPIP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PSTPIP1

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 pathways0.69
    NOD-like receptor signaling pathway0.37
    2Inflammasomes
    The NLRP3 inflammasome0.71
    Inflammasomes0.71
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    4B cell receptor signaling pathway
    TCR Signaling Pathway0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PSTPIP1
        TCR Signaling Pathway

    5        Reactome Pathways for PSTPIP1
        The NLRP3 inflammasome
    Inflammasomes
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Immune System
    Innate Immune System


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


    PSTPIP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PSTPIP1

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

    5/78 Interacting proteins for PSTPIP1 (O435862, 3 ENSP000003689144) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction TAS9857189
    GO:0035872nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS--
    GO:0045087innate immune response TAS--
    GO:0055114oxidation-reduction process ----

    PSTPIP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PSTPIP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about PSTPIP1 / PPIP1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/19 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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    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 

    24/55 AceView cDNA sequences (see all 55):

    BG819706 NM_003978 AF038603 BC008602 BQ029347 BQ051519 BQ720739 BM563898 
    CR610262 CR593209 BI906497 BI911163 AL110110 BM922694 BX377857 BF530009 
    BM547486 BX377932 AL581028 BI906059 AF038602 BM924109 CA426976 BP381604 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PSTPIP1 expression in normal human tissues (normalized intensities)      PSTPIP1 embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             lymph node ; non-germinal center cells   
     
     Colon (Gastrointestinal Tract)
             colon ; peripheral nerve/ganglion   
     
     Peripheral Nervous System (Nervous System)
             colon ; peripheral nerve/ganglion   
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum

    See PSTPIP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PSTPIP1

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PSTPIP1 gene from 5/14 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 68.95(n)
    69.54(a)
      415349  XM_413733.3  XP_413733.3 
    lizard
    (Anolis carolinensis)
    Reptilia PSTPIP16
    Uncharacterized protein
    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 59.47(n)
    57.77(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)
    About This Section
    Paralogs for PSTPIP1 gene
    PSTPIP22  
    6 SIMAP similar genes for PSTPIP1 using alignment to 12 protein entries:     PPIP1_HUMAN (see all proteins):
    GRAP2    PSTPIP2    FCHO2    GAS7    ARHGEF7    SH3GL2

    PSTPIP1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1085 SNPs in PSTPIP1 are shown (see all 1085)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0235224
    PAPA syndrome (PAPAS)4--see VAR_0235222 A T mis40--------
    rs289390891,2,4
    CPAPA syndrome (PAPAS)4 pathogenic154081440(+) TCTACA/C/GAGGAA 3 K Q E mis10--------
    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--------
    rs1912527961,2
    C--54042845(+) GCTGTA/GAAAAT 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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 18 diseases for PSTPIP1:    About MalaCards
    pyoderma    pyoderma gangrenosum    pyogenic arthritis, pyoderma gangrenosum and acne    pyogenic sterile arthritis, pyoderma gangrenosum, and acne
    acne    psoriatic juvenile idiopathic arthritis    myofascial pain syndrome    familial mediterranean fever
    oral candidiasis    blau syndrome    wiskott-aldrich syndrome    osteomyelitis
    paine syndrome    candidiasis    behcet's disease    arthritis
    inflammatory bowel disease    crohn's disease

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

    PSTPIP1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for PSTPIP1 gene, integrated from 9 sources (see all 46):
    (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. (1998)
    2. Autoinflammatory gene mutations in Behcet's disease. (PubMed id 17213252)1, 4, 9 Kone-Paut I....Touitou I. (2007)
    3. 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. (2003)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    6. Longest Form of CCTG Microsatellite Repeat in the Pro moter 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. (2009)
    7. Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis. (PubMed id 18576390)1, 4 Day T.G....Donn R.P. (2008)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. (PubMed id 11971877)1, 2 Wise C.A.... Lovett M. (2002)
    10. Pyrin Modulates the Intracellular Distribution of PST PIP1. (PubMed id 19584923)1, 9 Waite A.L....Gumucio D.L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9051 HGNC: 9580 AceView: PSTPIP1 Ensembl:ENSG00000140368 euGenes: HUgn9051
    ECgene: PSTPIP1 Kegg: 9051 H-InvDB: PSTPIP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/PSTPIP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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