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

    Gene ID: 9051, updated on 17-Oct-2021

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PSTPIP1 in Genome Data Viewer
    Location:
    15q24.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (76994680..77037475)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (77287021..77329816)

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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_001321135.2NP_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, ENST00000559295.5
      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_001321136.2NP_001308065.1  proline-serine-threonine phosphatase-interacting protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK309856, BI028090
      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, ENST00000559785.5
      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_003978.5NP_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, ENST00000558012.6
      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_135552.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BI028090, DA952061, KU178459

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 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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