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FLASH GENE
Symbol PSTPIP1 contributors: mct - updated : 09-04-2015
HGNC name proline-serine-threonine phosphatase interacting protein 1
HGNC id 9580
Corresponding disease
PSAPG pyogenic sterile arthritis, pyoderma gangrenosum and acne
Location 15q24.3      Physical location : 77.287.464 - 77.329.671
Synonym name
  • CD2 cytoplasmic tail-binding protein
  • CD2-binding protein 1
  • PEST phosphatase-interacting protein 1
  • Synonym symbol(s) CD2BP1, CD2BP1L, H-PIP, PAPAS, PSTPIP, CD2BP1S
    DNA
    TYPE functioning gene
    STRUCTURE 42.21 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    PTPN9 15q22.33 protein tyrosine phosphatase, non-receptor type 9 RNUT1 15q22.33 RNA, U transporter 1 C15orf12 15q24 chromosome 15 open reading frame 12 MGC32065 15q23 hypothetical protein MGC32065 CSPG4 15q23 chondroitin sulfate proteoglycan 4 (melanoma-associated) MGC48986 15q23 hypothetical protein MGC48986 LOC388138 15 similar to Dynamin-1 (D100) (Dynamin, brain) (B-dynamin) LOC390608 15 similar to peptidyl-Pro cis trans isomerase LOC390609 15 similar to Golgi autoantigen, golgin subfamily A member 6 (Golgin linked to PML) (Golgin-like protein) LOC92912 15q23 hypothetical protein LOC92912 FBXO22 15q24.1 F-box only protein 22 LOC145957 15q23 neuregulin 4 FLJ38190 15q23-q24.1 hypothetical protein FLJ38190 ETFA 15q23-q25 electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) ISL2 15q23 ISL2 transcription factor, LIM/homeodomain, (islet-2) LOC388139 15 LOC388139 ZNF291 15q24 zinc finger protein 291 RCN2 15q22.33-q24.1 reticulocalbin 2, EF-hand calcium binding domain LOC390610 15 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 PSTPIP1 15q24-q25.1 proline-serine-threonine phosphatase interacting protein 1 TM4SF8 15q23 transmembrane 4 superfamily member 8 KIAA2002 15q24.1 KIAA2002 protein C15orf5 15q23-q24 chromosome 15 open reading frame 5 HMG20A 15q24 high-mobility group 20A LOC388140 15 LOC388140 FLJ14594 15q24.1 hypothetical protein FLJ14594 LOC342111 15q24.1 hypothetical gene supported by NM_001897 LOC388141 15 LOC388141 LOC390611 15 similar to hypothetical protein FLJ20452 KIAA1055 15q24.1 KIAA1055 protein LOC146013 15q24.1 similar to SH2 domain protein 2A (T cell-specific adapter protein) (TSAd) (VEGF receptor-associated protein) (SH2 domain containing adapter protein) KIP2 15q24.3 similar to SH2 domain protein 2A (T cell-specific adapter protein) (TSAd) (VEGF receptor-associated protein) (SH2 domain containing adapter protein) IDH3A 15q25.1-q25.2 isocitrate dehydrogenase 3 (NAD+) alpha BG1 15q24-q25 isocitrate dehydrogenase 3 (NAD+) alpha DNAJA4 15q24.1 DnaJ (Hsp40) homolog, subfamily A, member 4 REC14 15q24.1 recombination protein REC14 CRABP1 15q24 cellular retinoic acid binding protein 1 IREB2 15q24 iron-responsive element binding protein 2 LOC123688 15q24.1 similar to RIKEN cDNA C630028N24 gene PSMA4 15q24.1 proteasome (prosome, macropain) subunit, alpha type, 4
    RNA
    TRANSCRIPTS type messenger
    text with two alternatively spliced isoforms L (large) and S (short) (Li)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 1870 47 416 - 2007 17964261
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
     thymus   highly
    Nervousbrain   lowly
    Reproductivemale systemtestis  lowly
    Respiratorylung   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoietic     Homo sapiens
    Connectiveadipose  moderately
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticgranulocyte Homo sapiens
    Blood/Hematopoieticmonocyte Homo sapiens
    Blood/HematopoieticNK cell
    cell lineage restricted to hemopoietic cells
    cell lines
    fluid/secretion highly in blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal FER/CIP4 homologous domain (FCH),
  • an intermediate coiled coil domain mediating interaction with PTPN18, PTPN12 and CD2AP
  • an helical domain, variable length intervening PEST sequence
  • a C terminal SH3 domain mediating interaction with WAS and ABL1
  • a F-BAR domain
  • the SH3 and coiled-coil domains are necessary for the interaction with MEFV, and SH3 is implicated in its function
  • conjugated PhosphoP
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies homolog to rattus Pstpip1 (86.1 pc)
    homolog to murine Pstpip1 (88.2 pc)
    Homologene
    FAMILY
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text
  • cell projection, lamellipodium
  • perinuclear region
  • basic FUNCTION
  • acting as a CD2 tail binding protein
  • involved in the control processes for cell adhesion
  • involved in regulation of the actin cytoskeleton
  • may regulate the WAS actin-bundling activity
  • bridging 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
  • having the potential to physically couple CD2 and CD2AP to WAS
  • acting 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
  • down-regulating CD2-stimulated adhesion through the coupling of PTPN12 to CD2
  • is not an essential regulator of the major types of caspase-1-activating inflammasomes, nor is it a critical regulator of the caspase-1 independent turpentine-induced inflammatory pathway 2)
  • cytoskeletal adaptor and F-BAR protein that has been implicated in autoinflammatory disease, most notably in the PAPA syndrome
  • endogenous PSTPIP1 negatively regulates macrophage podosome organization and matrix degradation
  • novel role for PSTPIP1 and WAS in orchestrating different
  • types of actin-based protrusions
  • adaptor protein associated with the cytoskeleton that is mainly expressed in hematopoietic cells
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    text control processes
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • pyrin binding
  • interacting with PTPN18, ABL1, CD2AP and WAS
  • interacting with CD2, PTPN12 and MEFV/pyrin
  • links PEST-type phosphatases to their substrates
  • interacts with PYRIN, the protein encoded by the Mediterranean Fever (MEFV) gene whose mutations cause Familial Mediterranean Fever (FMF)
  • interacts with PEST-type protein tyrosine phosphatases (PEST-PTPs)
  • cell & other
    REGULATION
    Other phosphorylation regulates the interaction with WAS and with MEFV
    ASSOCIATED DISORDERS
    corresponding disease(s) PSAPG
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in the absence of Pstpip1 proteins, mouse macrophages responded normally to stimuli that activate the Nlrp3, Nlrc4, and Aim2 inflammasomes 2)