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Aliases for PSTPIP1 Gene

Aliases for PSTPIP1 Gene

  • Proline-Serine-Threonine Phosphatase Interacting Protein 1 2 3 5
  • PEST Phosphatase-Interacting Protein 1 2 3 4
  • CD2 Cytoplasmic Tail-Binding Protein 2 3
  • CD2 Antigen-Binding Protein 1 2 3
  • CD2-Binding Protein 1 3 4
  • CD2BP1 3 4
  • H-PIP 3 4
  • Truncated Proline-Serine-Threonine Phosphatase Interacting Protein 1 3
  • CD2BP1L 3
  • CD2BP1S 3
  • PSTPIP 3
  • PAPAS 3

External Ids for PSTPIP1 Gene

Previous GeneCards Identifiers for PSTPIP1 Gene

  • GC15P073176
  • GC15P070377
  • GC15P074863
  • GC15P075003
  • GC15P075074
  • GC15P077287
  • GC15P054044

Summaries for PSTPIP1 Gene

Entrez Gene Summary for PSTPIP1 Gene

  • 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]

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 Immune System 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

Regulatory Elements for PSTPIP1 Gene

Genomic Location for PSTPIP1 Gene

Chromosome:
15
Start:
76,993,359 bp from pter
End:
77,037,337 bp from pter
Size:
43,979 bases
Orientation:
Plus strand

Genomic View for PSTPIP1 Gene

Genes around PSTPIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSTPIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSTPIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

No data available for DME Specific Peptides for PSTPIP1 Gene

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

Human Phenotype Ontology for PSTPIP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PSTPIP1 Gene

MGI Knock Outs for PSTPIP1:

Animal Model Products

CRISPR Products

miRNA for PSTPIP1 Gene

miRTarBase miRNAs that target PSTPIP1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PSTPIP1 Gene

Localization for PSTPIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSTPIP1 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, uropodium. Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Cell projection, lamellipodium. Cleavage furrow. Note=Mainly cytoplasmic in T cells (PubMed:9857189). Colocalizes in cluster with CD2 near the cell surface membrane in activated T cells (PubMed:9857189). In monocytes, forms a branched filamentous network in the cytoplasm (PubMed:19584923). In transfected cells, forms relatively straight filaments radiating out from the nucleus (PubMed:19584923). Filament formation requires an intact tubulin cytoskeleton (PubMed:19584923). In migrating neutrophils, colocalizes with PIP5K1C and DNM2 to the trailing edge of the uropod in a actin-dependent manner (PubMed:18480402). Colocalized with PTPN12 in the cytoplasm and the perinuclear region. 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 CD2AP and WAS in the actin cytoskeleton within the cytoplasm. Colocalized with CD2, CD2AP and WAS at the site of T-cell:APC contact (By similarity). {ECO:0000250 UniProtKB:P97814, ECO:0000269 PubMed:18480402, ECO:0000269 PubMed:19584923, ECO:0000269 PubMed:9857189}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSTPIP1 Gene COMPARTMENTS Subcellular localization image for PSTPIP1 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
plasma membrane 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PSTPIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001931 uropod IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with PSTPIP1: view

Pathways & Interactions for PSTPIP1 Gene

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

Pathways by source for PSTPIP1 Gene

SIGNOR curated interactions for PSTPIP1 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PSTPIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IEA --
GO:0007165 signal transduction TAS 9857189
genes like me logo Genes that share ontologies with PSTPIP1: view

Drugs & Compounds for PSTPIP1 Gene

(2) Drugs for PSTPIP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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 (x31.9) and Spleen (x4.5).

Protein differential expression in normal tissues from HIPED for PSTPIP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (29.7), Monocytes (10.9), and NK cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PSTPIP1: view

Protein tissue co-expression partners for PSTPIP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia PSTPIP1 35
  • 88.7 (n)
  • 91.11 (a)
PSTPIP1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pstpip1 35
  • 85.62 (n)
  • 87.95 (a)
Pstpip1 16
Pstpip1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSTPIP1 35
  • 95.93 (n)
  • 94.72 (a)
PSTPIP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pstpip1 35
  • 83.81 (n)
  • 86.06 (a)
dog
(Canis familiaris)
Mammalia PSTPIP1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PSTPIP1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSTPIP1 36
  • 67 (a)
OneToOne
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
rs1141038 - 77,018,463(+) GCCCA(C/G)GCGGA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1141039 - 77,025,566(+) GTCTC(A/G)AGGAG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1141041 - 77,028,574(+) GAGCA(G/T)AAGTG nc-transcript-variant, reference, missense
rs1141042 - 77,028,582(+) GTGCC(A/G/T)GGACG nc-transcript-variant, reference, missense
rs1141043 - 77,028,587(+) GGGAC(A/G/T)CGGAC nc-transcript-variant, reference, synonymous-codon, missense

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

Variation tolerance for PSTPIP1 Gene

Residual Variation Intolerance Score: 98.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSTPIP1 Gene

HapMap Linkage Disequilibrium report
PSTPIP1
Human Gene Mutation Database (HGMD)
PSTPIP1

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

Disorders for PSTPIP1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PSTPIP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pyogenic sterile arthritis, pyoderma gangrenosum, and acne
  • pyogenic arthritis, pyoderma gangrenosum and acne
pyogenic arthritis, pyoderma gangrenosum and acne
  • familial recurrent arthritis
pyoderma gangrenosum
pyoderma
acne
  • acne varioliformis
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for PSTPIP1

Genetic Association Database (GAD)
PSTPIP1
Human Genome Epidemiology (HuGE) Navigator
PSTPIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSTPIP1
genes like me logo Genes that share disorders with PSTPIP1: view

No data available for Genatlas for PSTPIP1 Gene

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 67
  2. Pyrin Modulates the Intracellular Distribution of PSTPIP1. (PMID: 19584923) Waite A.L. … Gumucio D.L. (PLoS ONE 2009) 3 23
  3. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene. (PMID: 19700023) Hong J.B. … Chiu H.C. (J. Am. Acad. Dermatol. 2009) 3 23
  4. 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 23
  5. Autoinflammatory gene mutations in BehAset's disease. (PMID: 17213252) KonAc-Paut I. … Touitou I. (Ann. Rheum. Dis. 2007) 3 23

Products for PSTPIP1 Gene

Sources for PSTPIP1 Gene

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