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    PTPN12 protein tyrosine phosphatase, non-receptor type 12 [ Homo sapiens (human) ]

    Gene ID: 5782, updated on 14-Oct-2018

    Summary

    Official Symbol
    PTPN12provided by HGNC
    Official Full Name
    protein tyrosine phosphatase, non-receptor type 12provided by HGNC
    Primary source
    HGNC:HGNC:9645
    See related
    Ensembl:ENSG00000127947 MIM:600079; Vega:OTTHUMG00000023501
    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
    PTPG1; PTP-PEST
    Summary
    The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in lung (RPKM 36.1), placenta (RPKM 29.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See PTPN12 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (77537190..77640071)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (77166773..77269388)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene gamma-secretase activating protein Neighboring gene uncharacterized LOC101927243 Neighboring gene glucosaminyl (N-acetyl) transferase 1 pseudogene 5 Neighboring gene uncharacterized LOC105375363 Neighboring gene Alu-mediated CDKN1A/p21 transcriptional regulator Neighboring gene round spermatid basic protein 1 like

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Downregulation of ERBB2 signaling, organism-specific biosystem (from REACTOME)
      Downregulation of ERBB2 signaling, organism-specific biosystemSignaling by ERBB2 can be downregulated by ubiquitination and subsequent proteasome-dependent degradation of ERBB2 or activated ERBB2 heterodimers. In addition, protein tyrosine phosphatases that dep...
    • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
    • EGFR downregulation, organism-specific biosystem (from REACTOME)
      EGFR downregulation, organism-specific biosystemRegulation of receptor tyrosine kinase (RTK) activity is implicated in the control of almost all cellular functions. One of the best understood RTKs is epidermal growth factor receptor (EGFR). Growth...
    • SHC1 events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in ERBB2 signaling, organism-specific biosystemAll ERBB2 heterodimers, ERBB2:EGFR, ERBB2:ERBB3 and ERBB2:ERBB4, are able to activate RAF/MAP kinase cascade by recruiting SHC1 (Pinkas-Kramarski et al. 1996, Sepp-Lorenzino et al. 1996) to phosphory...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
      Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    non-membrane spanning protein tyrosine phosphatase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine phosphatase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    Component Evidence Code Pubs
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    podosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    tyrosine-protein phosphatase non-receptor type 12
    Names
    protein-tyrosine phosphatase G1
    NP_001124480.1
    NP_001124481.1
    NP_002826.3
    XP_005250575.1
    XP_006716136.1
    XP_016867963.1

    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.

    Genomic

    1. NG_008394.1 RefSeqGene

      Range
      5001..107616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001131008.1NP_001124480.1  tyrosine-protein phosphatase non-receptor type 12 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus with an incomplete PTPc domain when compared to isoform 1.
      Source sequence(s)
      AK303602, BC050008
      Consensus CDS
      CCDS47619.1
      UniProtKB/Swiss-Prot
      Q05209
      UniProtKB/TrEMBL
      B4E105
      Related
      ENSP00000392429.2, OTTHUMP00000208615, ENST00000415482.6, OTTHUMT00000341574
      Conserved Domains (2) summary
      cd00047
      Location:1173
      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 ...
      pfam00102
      Location:1173
      Y_phosphatase; Protein-tyrosine phosphatase
    2. NM_001131009.1NP_001124481.1  tyrosine-protein phosphatase non-receptor type 12 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR, skips an internal exon, and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus with an incomplete PTPc domain when compared to isoform 1.
      Source sequence(s)
      AK296764, AK303602, BC050008
      Consensus CDS
      CCDS47620.1
      UniProtKB/Swiss-Prot
      Q05209
      UniProtKB/TrEMBL
      B4E105
      Related
      ENSP00000397991.2, OTTHUMP00000208616, ENST00000435495.6, OTTHUMT00000341575
      Conserved Domains (2) summary
      cd00047
      Location:1162
      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 ...
      pfam00102
      Location:1162
      Y_phosphatase; Protein-tyrosine phosphatase
    3. NM_002835.3NP_002826.3  tyrosine-protein phosphatase non-receptor type 12 isoform 1

      See identical proteins and their annotated locations for NP_002826.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB209524, BC050008, CN395133
      Consensus CDS
      CCDS5592.1
      UniProtKB/Swiss-Prot
      Q05209
      Related
      ENSP00000248594.6, OTTHUMP00000161275, ENST00000248594.10, OTTHUMT00000253183
      Conserved Domains (2) summary
      smart00194
      Location:28292
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:60292
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      77537190..77640071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716073.4XP_006716136.1  tyrosine-protein phosphatase non-receptor type 12 isoform X1

      Conserved Domains (2) summary
      smart00194
      Location:28260
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:60260
      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 ...
    2. XM_005250518.2XP_005250575.1  tyrosine-protein phosphatase non-receptor type 12 isoform X2

      Conserved Domains (2) summary
      cd00047
      Location:11177
      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 ...
      pfam00102
      Location:11177
      Y_phosphatase; Protein-tyrosine phosphatase
    3. XM_017012474.2XP_016867963.1  tyrosine-protein phosphatase non-receptor type 12 isoform X2

      Conserved Domains (2) summary
      cd00047
      Location:11177
      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 ...
      pfam00102
      Location:11177
      Y_phosphatase; Protein-tyrosine phosphatase

    RNA

    1. XR_001744844.2 RNA Sequence

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