Format

Send to:

Choose Destination

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

Gene ID: 9051, updated on 9-Dec-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
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 Apr 4 07:08:55 2018

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 
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, 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_001321136.1NP_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, 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_003978.4NP_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, ENST00000558012.5
    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

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
Support Center