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

    Gene ID: 9051, updated on 12-Aug-2018

    Summary

    Official Symbol
    PSTPIP1provided by HGNC
    Official Full Name
    proline-serine-threonine phosphatase interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9580
    See related
    Ensembl:ENSG00000140368 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
    This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]
    Expression
    Biased expression in bone marrow (RPKM 17.6), spleen (RPKM 10.0) and 9 other tissues See more
    Orthologs

    Genomic context

    See PSTPIP1 in Genome Data Viewer
    Location:
    15q24.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (76994680..77037475)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (77287021..77329673)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370904 Neighboring gene RNA, 7SL, cytoplasmic 278, pseudogene Neighboring gene keratin 8 pseudogene 23 Neighboring gene tetraspanin 3 Neighboring gene pseudopodium enriched atypical kinase 1 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 27

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 antigen Receptor (TCR) Signaling Pathway, organism-specific biosystem (from WikiPathways)
      T-Cell antigen Receptor (TCR) Signaling Pathway, organism-specific biosystemThe T-cell antigen receptor (TCR) complex is composed of a ligand-binding subunit, the ? and ? chains, and a signaling subunit, namely the CD3?, ? and ? chains and the TCR? chain. This complex partic...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoskeletal protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cleavage furrow IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    uropod IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    proline-serine-threonine phosphatase-interacting protein 1
    Names
    CD2 antigen-binding protein 1
    CD2 cytoplasmic tail-binding protein
    CD2-binding protein 1
    PEST phosphatase-interacting protein 1
    truncated proline-serine-threonine phosphatase interacting protein 1

    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_001321135.1NP_001308064.1  proline-serine-threonine phosphatase-interacting protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AF038602, BI028090, DA952061
      Consensus CDS
      CCDS81910.1
      UniProtKB/Swiss-Prot
      O43586
      Related
      ENSP00000452743.1, OTTHUMP00000248828, ENST00000559295.5, OTTHUMT00000419377
      Conserved Domains (2) summary
      cd11824
      Location:344396
      SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
      cl12013
      Location:16257
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. NM_001321136.1NP_001308065.1  proline-serine-threonine phosphatase-interacting protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK309856, BI028090, DA952061
      Conserved Domains (2) summary
      cd11824
      Location:354406
      SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
      cl12013
      Location:7248
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. NM_001321137.1NP_001308066.1  proline-serine-threonine phosphatase-interacting protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK308462, BC008602, BI028090
      UniProtKB/Swiss-Prot
      O43586
      Related
      ENSP00000452986.1, OTTHUMP00000248822, ENST00000559785.5, OTTHUMT00000419369
      Conserved Domains (2) summary
      cd07671
      Location:81322
      F-BAR_PSTPIP1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
      cd11824
      Location:428480
      SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
    4. NM_003978.4NP_003969.2  proline-serine-threonine phosphatase-interacting protein 1 isoform 1

      See identical proteins and their annotated locations for NP_003969.2

      Status: REVIEWED

      Source sequence(s)
      BC008602, BI028090, DA952061
      Consensus CDS
      CCDS45312.1
      UniProtKB/Swiss-Prot
      O43586
      UniProtKB/TrEMBL
      A0A0S2Z5P3
      Related
      ENSP00000452746.1, OTTHUMP00000248825, ENST00000558012.5, OTTHUMT00000419373
      Conserved Domains (2) summary
      cd11824
      Location:363415
      SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
      cl12013
      Location:16257
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RNA

    1. NR_135552.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BI028090, DA952061, KU178459

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      76994680..77037475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522168.3XP_011520470.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X1

      Conserved Domains (2) summary
      cd11824
      Location:382434
      SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
      cl12013
      Location:16276
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. XM_011522163.2XP_011520465.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X2

      Conserved Domains (2) summary
      cd11824
      Location:379431
      SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
      cl12013
      Location:16276
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. XM_011522166.2XP_011520468.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X5

      Conserved Domains (1) summary
      cl12013
      Location:16276
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    4. XM_011522167.2XP_011520469.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X6

      Conserved Domains (1) summary
      cl12013
      Location:16276
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    5. XM_011522169.2XP_011520471.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X8

      Conserved Domains (1) summary
      cl12013
      Location:16266
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    6. XM_006720737.3XP_006720800.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X7

      See identical proteins and their annotated locations for XP_006720800.1

      Conserved Domains (2) summary
      cd11824
      Location:241293
      SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
      cl12013
      Location:1135
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    7. XM_011522164.1XP_011520466.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X3

      Conserved Domains (2) summary
      cd11824
      Location:348400
      SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
      cl12013
      Location:1242
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    8. XM_011522165.2XP_011520467.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X4

      Conserved Domains (2) summary
      cd11824
      Location:314366
      SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
      cl12013
      Location:4208
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RNA

    1. XR_931936.2 RNA Sequence

    2. XR_931938.2 RNA Sequence

    3. XR_931939.2 RNA Sequence

    4. XR_931937.2 RNA Sequence

      Related
      ENST00000560223.5
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