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Aliases for PSTPIP1 Gene

Aliases for PSTPIP1 Gene

  • Proline-Serine-Threonine Phosphatase Interacting Protein 1 2 3
  • PEST Phosphatase-Interacting Protein 1 2 3 4
  • CD2BP1 3 4 6
  • CD2 Cytoplasmic Tail-Binding Protein 2 3
  • CD2 Antigen-Binding Protein 1 2 3
  • CD2-Binding Protein 1 3 4
  • PSTPIP 3 6
  • PAPAS 3 6
  • H-PIP 3 4
  • Proline-Serine-Threonine Phosphatase-Interacting Protein 1 3
  • CD2BP1L 3
  • CD2BP1S 3

External Ids for PSTPIP1 Gene

Summaries for PSTPIP1 Gene

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 pyogenic sterile arthritis, pyoderma gangrenosum, and acne and pyogenic arthritis, pyoderma gangrenosum and acne. Among its related pathways are B cell receptor signaling pathway (KEGG) and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. GO annotations related to this gene include actin binding and protein phosphatase binding. An important paralog of this gene is PSTPIP2.

UniProtKB/Swiss-Prot for PSTPIP1 Gene

  • Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow 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. Also has a role in innate immunity and the inflammatory response. Recruited to inflammasomes by MEFV. Induces formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Binding to MEFV allows MEFV to bind to PYCARD and facilitates pyroptosome formation. Regulates endocytosis and cell migration in neutrophils.

Gene Wiki entry for PSTPIP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSTPIP1 Gene

Genomics for PSTPIP1 Gene

Genomic Location for PSTPIP1 Gene

Start:
76,993,359 bp from pter
End:
77,037,332 bp from pter
Size:
43,974 bases
Orientation:
Plus strand

Genomic View for PSTPIP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PSTPIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSTPIP1 Gene

Regulatory Elements for PSTPIP1 Gene

Proteins for PSTPIP1 Gene

  • Protein details for PSTPIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43586-PPIP1_HUMAN
    Recommended name:
    Proline-serine-threonine phosphatase-interacting protein 1
    Protein Accession:
    O43586
    Secondary Accessions:
    • B5BU74
    • B5BUK4
    • O43585
    • O95657

    Protein attributes for PSTPIP1 Gene

    Size:
    416 amino acids
    Molecular mass:
    47591 Da
    Quaternary structure:
    • Homodimer (PubMed:19584923). Homotrimer (PubMed:17964261). Interacts (via coiled-coil domain) with CD2AP, PTPN12 and PTPN18. Interacts (via SH3 domain) with ABL1 and WAS. Interacts (via SH3 and coiled-coil domains) with MEFV (via B-box zinc finger); the interaction allows binding of MEFV to PYCARD and facilitates formation of PYCARD pyroptosomes. Interacts with CD2, DNM2 and FASLG.

    Three dimensional structures from OCA and Proteopedia for PSTPIP1 Gene

    Alternative splice isoforms for PSTPIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSTPIP1 Gene

Proteomics data for PSTPIP1 Gene at MOPED

Post-translational modifications for PSTPIP1 Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PSTPIP1 Gene

Domains for PSTPIP1 Gene

Protein Domains for PSTPIP1 Gene

Suggested Antigen Peptide Sequences for PSTPIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43586

UniProtKB/Swiss-Prot:

PPIP1_HUMAN
Domain:
  • The F-BAR domain is important for filament formation. The SH3 domain is not required for filament formation or localization to the uropod:
    • O43586
  • Contains 1 F-BAR domain.:
    • O43586
  • Contains 1 SH3 domain.:
    • O43586
genes like me logo Genes that share domains with PSTPIP1: view

No data available for Gene Families for PSTPIP1 Gene

Function for PSTPIP1 Gene

Molecular function for PSTPIP1 Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot Function: Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow 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. Also has a role in innate immunity and the inflammatory response. Recruited to inflammasomes by MEFV. Induces formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Binding to MEFV allows MEFV to bind to PYCARD and facilitates pyroptosome formation. Regulates endocytosis and cell migration in neutrophils.

Gene Ontology (GO) - Molecular Function for PSTPIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0003824 catalytic activity --
GO:0005515 protein binding IPI 16318909
GO:0016491 oxidoreductase activity --
GO:0019903 protein phosphatase binding IEA --
genes like me logo Genes that share ontologies with PSTPIP1: view

Phenotypes for PSTPIP1 Gene

genes like me logo Genes that share phenotypes with PSTPIP1: view

Animal Models for PSTPIP1 Gene

MGI Knock Outs for PSTPIP1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for PSTPIP1 Gene

Localization for PSTPIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSTPIP1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, uropodium. Cytoplasm, perinuclear region. Cleavage furrow. Note=During interphase, colocalizes with F-actin in the cortical cytoskeleton, lamellipodia, and stress fibers. In dividing cells, colocalizes with the F-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). In monocytes, forms a branched filamentous network in the cytoplasm. In migrating neutrophils, localizes most strongly to the trailing edge of the uropod where it colocalizes with PIP5K1C. In transfected cells, forms relatively straight filaments radiating out from the nucleus. Colocalizes with MEFV, particularly at the branch point of filaments. Filament formation requires an intact tubulin cytoskeleton. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSTPIP1 Gene COMPARTMENTS Subcellular localization image for PSTPIP1 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PSTPIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0001931 uropod IEA --
GO:0005826 actomyosin contractile ring IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PSTPIP1: view

Pathways for PSTPIP1 Gene

genes like me logo Genes that share pathways with PSTPIP1: view

Pathways by source for PSTPIP1 Gene

1 KEGG pathway for PSTPIP1 Gene

Gene Ontology (GO) - Biological Process for PSTPIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006954 inflammatory response IEA --
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction TAS 9857189
GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with PSTPIP1: view

Compounds for PSTPIP1 Gene

(2) Novoseek inferred chemical compound relationships for PSTPIP1 Gene

Compound -log(P) Hits PubMed IDs
serine 41 3
tyrosine 40.3 7
genes like me logo Genes that share compounds with PSTPIP1: view

Transcripts for PSTPIP1 Gene

Unigene Clusters for PSTPIP1 Gene

Proline-serine-threonine phosphatase interacting protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PSTPIP1 Gene

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: - -
SP6:

Relevant External Links for PSTPIP1 Gene

GeneLoc Exon Structure for
PSTPIP1
ECgene alternative splicing isoforms for
PSTPIP1

Expression for PSTPIP1 Gene

mRNA expression in normal human tissues for PSTPIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSTPIP1 Gene

This gene is overexpressed in Whole Blood (31.9) and Spleen (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSTPIP1 Gene

SOURCE GeneReport for Unigene cluster for PSTPIP1 Gene Hs.129758

mRNA Expression by UniProt/SwissProt for PSTPIP1 Gene

O43586-PPIP1_HUMAN
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.
genes like me logo Genes that share expressions with PSTPIP1: view

Orthologs for PSTPIP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PSTPIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSTPIP1 35
  • 95.93 (n)
  • 94.72 (a)
PSTPIP1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSTPIP1 35
  • 88.7 (n)
  • 91.11 (a)
PSTPIP1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSTPIP1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pstpip1 35
  • 85.62 (n)
  • 87.95 (a)
Pstpip1 16
Pstpip1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PSTPIP1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSTPIP1 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pstpip1 35
  • 83.81 (n)
  • 86.06 (a)
chicken
(Gallus gallus)
Aves PSTPIP1 35
  • 68.16 (n)
  • 68.41 (a)
PSTPIP1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSTPIP1 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pstpip1 35
  • 62.67 (n)
  • 61.12 (a)
zebrafish
(Danio rerio)
Actinopterygii pstpip1a 35
  • 59.34 (n)
  • 57.49 (a)
pstpip1a 36
  • 56 (a)
OneToMany
pstpip1b 36
  • 44 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU10905 35
  • 48.17 (n)
  • 34.48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToMany
Species with no ortholog for PSTPIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PSTPIP1 Gene

ENSEMBL:
Gene Tree for PSTPIP1 (if available)
TreeFam:
Gene Tree for PSTPIP1 (if available)

Paralogs for PSTPIP1 Gene

Paralogs for PSTPIP1 Gene

genes like me logo Genes that share paralogs with PSTPIP1: view

Variants for PSTPIP1 Gene

Sequence variations from dbSNP and Humsavar for PSTPIP1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs869884 -- 76,999,257(+) CTTCC(C/T)GAACC intron-variant
rs1022197 -- 76,997,700(+) TCGGG(A/G)TAAGA intron-variant
rs1022198 -- 76,997,820(+) CACTA(C/T)TCTGG intron-variant
rs1141038 - 77,018,463(+) GCCCA(C/G)GCGGA missense, reference, utr-variant-5-prime, nc-transcript-variant
rs1141039 - 77,025,566(+) GTCTC(A/G)AGGAG missense, reference, utr-variant-5-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for PSTPIP1 Gene

Variant ID Type Subtype PubMed ID
esv2749898 CNV Deletion 23290073
dgv757e1 CNV Complex 17122850
nsv833058 CNV Loss 17160897
nsv509576 CNV Insertion 20534489
nsv517068 CNV Gain+Loss 19592680
esv259979 OTHER Complex 20981092
nsv904414 CNV Loss 21882294
nsv1622 CNV Insertion 18451855
nsv511547 CNV Loss 21212237

Relevant External Links for PSTPIP1 Gene

HapMap Linkage Disequilibrium report
PSTPIP1
Human Gene Mutation Database (HGMD)
PSTPIP1
Locus Specific Mutation Databases (LSDB)
PSTPIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSTPIP1 Gene

Disorders for PSTPIP1 Gene

(1) OMIM Diseases for PSTPIP1 Gene (606347)

UniProtKB/Swiss-Prot

PPIP1_HUMAN
  • 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. {ECO:0000269 PubMed:11971877, ECO:0000269 PubMed:22161697}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PSTPIP1 Gene

(7) Novoseek inferred disease relationships for PSTPIP1 Gene

Disease -log(P) Hits PubMed IDs
pyoderma gangrenosum 88 6
pyogenic arthritis 85.7 1
familial mediterranean fever 81.4 1
wiskott-aldrich syndrome 59.9 1
arthritis 51.3 4

Relevant External Links for PSTPIP1

Genetic Association Database (GAD)
PSTPIP1
Human Genome Epidemiology (HuGE) Navigator
PSTPIP1
genes like me logo Genes that share disorders with PSTPIP1: view

Publications for PSTPIP1 Gene

  1. A cdc15-like adaptor protein (CD2BP1) interacts with the CD2 cytoplasmic domain and regulates CD2-triggered adhesion. (PMID: 9857189) Li J. … Reinherz E.L. (EMBO J. 1998) 2 3 4 23
  2. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. (PMID: 14595024) Shoham N.G. … Kastner D.L. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23
  3. Pyrin Modulates the Intracellular Distribution of PSTPIP1. (PMID: 19584923) Waite A.L. … Gumucio D.L. (PLoS ONE 2009) 3 4 23
  4. Autoinflammatory gene mutations in BehAset's disease. (PMID: 17213252) KonAc-Paut I. … Touitou I. (Ann. Rheum. Dis. 2007) 3 23 48
  5. The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration. (PMID: 18480402) Cooper K.M. … Huttenlocher A. (Mol. Biol. Cell 2008) 3 4 23

Products for PSTPIP1 Gene

Sources for PSTPIP1 Gene

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