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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PIRT Gene

protein-coding   GIFtS: 33
GCID: GC17M010725

phosphoinositide-interacting regulator of transient receptor...

  Search for PIRT
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 Human Malady Compendium 
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Phosphoinositide-Interacting Regulator Of Transient Receptor Potential
Channels1 2
Phosphoinositide-Interacting Protein2
Phosphoinositide-Interacting Regulator Of TRPV12

External Ids:    HGNC: 372391   Entrez Gene: 6441392   Ensembl: ENSG000002336707   OMIM: 6120685   UniProtKB: P0C8513   

Export aliases for PIRT gene to outside databases

Previous GC identifer: GC17M010626


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: PIRT_HUMAN, P0C851
Function: Regulatory subunit of TRPV1, a molecular sensor of noxious heat and capsaicin. Positively regulates TRPV1
channel activity via phosphatidylinositol 4,5-bisphosphate (PIP2). Binds various phosphoinositide, including
phosphatidylinositol 4,5-bisphosphate (PIP2), but not phosphatidylinositol (PI) (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIRT gene promoter:
         ER-alpha   AP-4   LCR-F1   Cdc5   RORalpha1   POU2F1   FOXO4   POU2F1a   c-Myb   RSRFC4   
         Other transcription factors

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   Search SABiosciences Chromatin IP Primers for PIRT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIRT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p12   Ensembl cytogenetic band:  17p12   HGNC cytogenetic band: 17p12

PIRT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIRT gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M010725:  view genomic region     (about GC identifiers)

Start:
10,725,792 bp from pter      End:
10,741,762 bp from pter
Size:
15,971 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PIRT_HUMAN, P0C851 (See protein sequence)
Recommended Name: Phosphoinositide-interacting protein  
Size: 137 amino acids; 15334 Da
Subunit: Interacts with TRPV1 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Caution: It is uncertain whether Met-1 or Met-3 is the initiator
Secondary accessions: B7Z648

Explore the universe of human proteins at neXtProt for PIRT: NX_P0C851

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P0C851

  • PIRT Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_001094857.1  
    ENSEMBL proteins: 
     ENSP00000462046  

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    Uscn Proteins for PIRT

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    PIRT for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: P0C851


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PIRT_HUMAN, P0C851
    Function: Regulatory subunit of TRPV1, a molecular sensor of noxious heat and capsaicin. Positively regulates TRPV1
    channel activity via phosphatidylinositol 4,5-bisphosphate (PIP2). Binds various phosphoinositide, including
    phosphatidylinositol 4,5-bisphosphate (PIP2), but not phosphatidylinositol (PI) (By similarity)

    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pirt):

     behavior/neurological  integument  nervous system 

    PIRT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PIRT 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PIRT

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PIRT
    Search CenterWatch for drugs/clinical trials and news about PIRT 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for PIRT gene: 
    NM_001101387.1  

    Unigene Cluster for PIRT:

    Phosphoinositide-interacting regulator of transient receptor potential channels
    Hs.553909  [show with all ESTs]
    Unigene Representative Sequence: NM_001101387
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441732 ENST00000580256(uc010col.3)

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    hsa-miR-30c hsa-miR-3673 hsa-miR-206 hsa-miR-3607-3p hsa-miR-1 hsa-miR-30d hsa-miR-33a* hsa-miR-188-3p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK021549.1 AK299808.1 AK300493.1 

    2 DOTS entries:

    DT.92066052  DT.100749643 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PIRT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    PIRT Expression
    About this image

    PIRT expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    Genevestigator expression for PIRT

    SOURCE GeneReport for Unigene cluster: Hs.553909
        SABiosciences Custom PCR Arrays for PIRT
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PIRT gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pirt1 , 5 phosphoinositide-interacting regulator of transient more1, 5 83.21(n)1
    79.26(a)1
      11 (40.59 cM)5
    1930031  NM_178656.31  NP_848771.11 
     669119815 
    chicken
    (Gallus gallus)
    Aves PIRT6
    Uncharacterized protein
    64(a)
    1 ↔ 1
    18(1635934-1636332)
    lizard
    (Anolis carolinensis)
    Reptilia PIRT6
    --
    57(a)
    1 ↔ 1
    2(104784412-104784858)


    ENSEMBL Gene Tree for PIRT (if available)
    TreeFam Gene Tree for PIRT (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/318 NCBI SNPs in PIRT are shown (see all 318    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs98955021,2
    C,F,A,H--10725356(+) GGAGAC/TGAGGA 1 -- ds500113Minor allele frequency- T:0.50NA WA CSA EA 378
    rs1827058521,2
    --10725402(+) AACTGC/TACCTG 1 -- ds50010--------
    rs1881236401,2
    --10725860(+) CCAAAC/GAGAAT 1 -- ut310--------
    rs110788661,2
    C,F,A,H--10725883(+) CATGAG/TACAAT 1 -- ut3116Minor allele frequency- T:0.30NA EA WA CSA 739
    rs1912666311,2
    --10725947(+) AAAGAA/GTCATT 1 -- ut310--------
    rs1504139771,2
    --10726057(+) GGCAAA/GAAATG 1 -- ut310--------
    rs1382817761,2
    --10726107(+) CTCATA/GTGGAG 1 -- ut310--------
    rs1172605101,2
    C,F--10726108(+) TCATGT/CGGAGG 1 -- ut311Minor allele frequency- C:0.02NA 120
    rs37445721,2
    C,F,H--10726149(+) ATTTCC/GTCATA 1 -- ut3112Minor allele frequency- G:0.18EA NS WA NA CSA 2276
    rs1827263201,2
    --10726222(+) GCAAAA/GTGAGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PIRT (10725792 - 10741762 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PIRT: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PIRT for disorders           About MalaCards

    PIRT for disorders           About GeneDecksing

    OMIM gene information: 612068    OMIM disorders: --


    Export disorders for PIRT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PIRT gene integrated from 9 sources:
    (articles sorted by number of sources associating them with PIRT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pirt, a phosphoinositide-binding protein, functions as a regulatory subunit of TRPV1. (PubMed id 18455988)1, 3 Kim A.Y....Dong X. (2008)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
    4. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 644139 HGNC: 37239 Ensembl:ENSG00000233670 euGenes: HUgn644139 ECgene: PIRT
    H-InvDB: PIRT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PIRT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PIRT gene:
    Search GeneIP for patents involving PIRT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
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    von Willebrand factor
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