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

Gene ID: 5782, updated on 17-Jun-2019

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
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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (77537190..77640069)
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 Apr 4 07:08:55 2018

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_001131008.2NP_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, ENST00000415482.6
    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_001131009.2NP_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, ENST00000435495.6
    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_002835.4NP_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, AC006451, BC050008, CN395133
    Consensus CDS
    CCDS5592.1
    UniProtKB/Swiss-Prot
    Q05209
    Related
    ENSP00000248594.6, ENST00000248594.11
    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

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    77537190..77640069
    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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