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    PTPDC1 protein tyrosine phosphatase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 138639, updated on 21-Dec-2019

    Summary

    Official Symbol
    PTPDC1provided by HGNC
    Official Full Name
    protein tyrosine phosphatase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30184
    See related
    Ensembl:ENSG00000158079
    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
    PTP9Q22
    Summary
    The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 3.6), adrenal (RPKM 2.2) and 24 other tissues See more
    Orthologs

    Genomic context

    See PTPDC1 in Genome Data Viewer
    Location:
    9q22.32
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (94029031..94109856)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (96793076..96872138)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene BARX1 divergent transcript Neighboring gene BARX homeobox 1 Neighboring gene CYCS pseudogene 24 Neighboring gene tripartite motif-containing protein 54-like Neighboring gene PTPDC1-MIRLET7DHG intergenic CAGE-defined high expression enhancer

    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

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ42922

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein tyrosine/serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protein tyrosine phosphatase domain-containing protein 1
    Names
    protein tyrosine phosphatase PTP9Q22
    NP_001240758.1
    NP_001240759.1
    NP_689635.3
    NP_818931.1
    XP_005251768.1
    XP_011516542.1
    XP_011516543.1
    XP_016869769.1
    XP_016869770.1
    XP_016869771.1

    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.

    mRNA and Protein(s)

    1. NM_001253829.2NP_001240758.1  protein tyrosine phosphatase domain-containing protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
      Source sequence(s)
      AK289692, AW052114, BC067120, DA218576, DA312531
      Consensus CDS
      CCDS75860.1
      UniProtKB/Swiss-Prot
      A2A3K4
      UniProtKB/TrEMBL
      A0A087WTF0, A8K0X7
      Related
      ENSP00000477817.1, ENST00000620992.5
      Conserved Domains (1) summary
      smart00404
      Location:208289
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    2. NM_001253830.2NP_001240759.1  protein tyrosine phosphatase domain-containing protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001240759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate splice site in the coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK094631, AW052114, BC051654, BC067120
      UniProtKB/Swiss-Prot
      A2A3K4
      Conserved Domains (1) summary
      smart00404
      Location:154235
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    3. NM_152422.4NP_689635.3  protein tyrosine phosphatase domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_689635.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AK094631, AK124912, AW052114, BC031279, BC067120, DA218576
      Consensus CDS
      CCDS6708.1
      UniProtKB/Swiss-Prot
      A2A3K4
      Related
      ENSP00000288976.3, ENST00000288976.3
      Conserved Domains (1) summary
      smart00404
      Location:206287
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    4. NM_177995.3NP_818931.1  protein tyrosine phosphatase domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_818931.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK094631, AW052114, BC067120
      Consensus CDS
      CCDS6707.1
      UniProtKB/Swiss-Prot
      A2A3K4
      Related
      ENSP00000364509.3, ENST00000375360.7
      Conserved Domains (1) summary
      smart00404
      Location:154235
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      94029031..94109856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014282.2XP_016869771.1  protein tyrosine phosphatase domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      smart00404
      Location:26111
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    2. XM_017014281.2XP_016869770.1  protein tyrosine phosphatase domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A3K4
      Conserved Domains (1) summary
      smart00404
      Location:154235
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    3. XM_005251711.5XP_005251768.1  protein tyrosine phosphatase domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005251768.1

      UniProtKB/Swiss-Prot
      A2A3K4
      Conserved Domains (1) summary
      smart00404
      Location:154235
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    4. XM_011518240.3XP_011516542.1  protein tyrosine phosphatase domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011516542.1

      UniProtKB/Swiss-Prot
      A2A3K4
      Conserved Domains (1) summary
      smart00404
      Location:154235
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    5. XM_017014280.2XP_016869769.1  protein tyrosine phosphatase domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A3K4
      Conserved Domains (1) summary
      smart00404
      Location:154235
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    6. XM_011518241.3XP_011516543.1  protein tyrosine phosphatase domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011516543.1

      UniProtKB/Swiss-Prot
      A2A3K4
      Conserved Domains (1) summary
      smart00404
      Location:154235
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
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