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    PTPRQ protein tyrosine phosphatase, receptor type Q [ Homo sapiens (human) ]

    Gene ID: 374462, updated on 20-Apr-2017
    Official Symbol
    PTPRQprovided by HGNC
    Official Full Name
    protein tyrosine phosphatase, receptor type Qprovided by HGNC
    Primary source
    HGNC:HGNC:9679
    See related
    Ensembl:ENSG00000139304 MIM:603317; Vega:OTTHUMG00000170171
    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
    DFNB84; DFNB84A; PTPGMC1; R-PTP-Q
    Summary
    This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]
    Orthologs
    Location:
    12q21.31
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (80424261..80680273)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (80838126..81073968)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L26 pseudogene 32 Neighboring gene otogelin like Neighboring gene RNA, 7SK small nuclear pseudogene 261 Neighboring gene uncharacterized LOC105369867 Neighboring gene akirin 1 pseudogene 1 Neighboring gene myogenic factor 6 Neighboring gene myogenic factor 5

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    phosphatidylinositol phosphatase PTPRQ
    Names
    phosphotidylinositol phosphatase PTPRQ
    protein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells
    NP_001138498.1

    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_034052.1 RefSeqGene

      Range
      5001..240844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145026.1NP_001138498.1  phosphatidylinositol phosphatase PTPRQ precursor

      Status: REVIEWED

      Source sequence(s)
      AC074031, AC083812
      Consensus CDS
      CCDS73501.1
      UniProtKB/TrEMBL
      A0A087WZU1
      Related
      ENSP00000482885.1, OTTHUMP00000229692, ENST00000614701.4, OTTHUMT00000383962
      Conserved Domains (6) summary
      smart00060
      Location:12451324
      FN3; Fibronectin type 3 domain
      smart00194
      Location:20022258
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:20302258
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
      cd00063
      Location:56150
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:15401618
      fn3; Fibronectin type III domain
      cl06408
      Location:17481926
      UP_III_II; Uroplakin IIIb, IIIa and II

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      80424261..80680273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019274.1XP_016874763.1  phosphatidylinositol phosphatase PTPRQ isoform X2

    2. XM_017019275.1XP_016874764.1  phosphatidylinositol phosphatase PTPRQ isoform X3

    3. XM_017019273.1XP_016874762.1  phosphatidylinositol phosphatase PTPRQ isoform X1

    RNA

    1. XR_001748688.1 RNA Sequence

    2. XR_001748689.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      80804585..81040375
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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