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    PTPRJ protein tyrosine phosphatase receptor type J [ Homo sapiens (human) ]

    Gene ID: 5795, updated on 3-Dec-2024

    Summary

    Official Symbol
    PTPRJprovided by HGNC
    Official Full Name
    protein tyrosine phosphatase receptor type Jprovided by HGNC
    Primary source
    HGNC:HGNC:9673
    See related
    Ensembl:ENSG00000149177 MIM:600925; AllianceGenome:HGNC:9673
    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
    DEP1; SCC1; CD148; THC10; HPTPeta; R-PTP-J; HPTP eta; R-PTP-ETA
    Summary
    The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in thyroid (RPKM 11.4), appendix (RPKM 10.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PTPRJ in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47980559..48170839)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (48150119..48340376)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (48002111..48192391)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902844 Neighboring gene SEC61 translocon subunit beta pseudogene Neighboring gene Sharpr-MPRA regulatory region 14057 Neighboring gene Sharpr-MPRA regulatory region 4641 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:47968069-47969268 Neighboring gene Sharpr-MPRA regulatory region 13015 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:47995557-47996216 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47996217-47996876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3340 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:48015112-48015327 Neighboring gene GATA motif-containing MPRA enhancer 240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:48050132-48050706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:48072419-48072920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:48072921-48073420 Neighboring gene Sharpr-MPRA regulatory region 8111 Neighboring gene NANOG hESC enhancer GRCh37_chr11:48077877-48078378 Neighboring gene Sharpr-MPRA regulatory region 12058 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:48092882-48093057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:48112153-48112964 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:48119178-48119678 Neighboring gene microRNA 3161 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:48149227-48149587 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:48198445-48198617 Neighboring gene NANOG hESC enhancer GRCh37_chr11:48212556-48213092 Neighboring gene olfactory receptor family 4 subfamily B member 2 pseudogene Neighboring gene olfactory receptor family 4 subfamily B member 1

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    Compare labs
    Thrombocytopenia 10
    MedGen: C5882682 OMIM: 620484 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.
    EBI GWAS Catalog
    Genetic predictors of fibrin D-dimer levels in healthy adults.
    EBI GWAS Catalog
    Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of protein tyrosine phosphatase, receptor type J (PTPRJ) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat The expression of protein tyrosine phosphatase, receptor type, J (PTPRJ; CD148) gene is upregulated in both Jurkat-Tat101 and Jurkat-Tat72 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cadherin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables delta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone H2AXY142 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables mitogen-activated protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables platelet-derived growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein tyrosine phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables protein tyrosine phosphatase activity, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in T cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in contact inhibition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of T cell receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of platelet-derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of vascular permeability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-tyrosine dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet-derived growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Fc receptor mediated stimulatory signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of calcium-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of macrophage chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of platelet activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in immunological synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    receptor-type tyrosine-protein phosphatase eta
    Names
    CD148 antigen
    density-enhanced phosphatase 1
    human density enhanced phosphatase-1
    protein tyrosine phosphatase, receptor type, J polypeptide
    protein-tyrosine phosphatase eta
    susceptibility to colon cancer 1, mouse, homolog of
    NP_001091973.1
    NP_002834.3
    XP_016873574.1
    XP_047283330.1
    XP_054225534.1
    XP_054225535.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012209.1 RefSeqGene

      Range
      5002..195282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001098503.2NP_001091973.1  receptor-type tyrosine-protein phosphatase eta isoform 2 precursor

      See identical proteins and their annotated locations for NP_001091973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 3' end, compared to variant 1. These differences produce a unique 3' UTR, compared to variant 1, and the encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC026975, BC063417, BC098447, DR007037
      Consensus CDS
      CCDS44596.1
      UniProtKB/Swiss-Prot
      Q12913
      Related
      ENSP00000409733.2, ENST00000440289.6
      Conserved Domains (2) summary
      smart00060
      Location:454526
      FN3; Fibronectin type 3 domain
      cd00063
      Location:119205
      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 ...
    2. NM_002843.4NP_002834.3  receptor-type tyrosine-protein phosphatase eta isoform 1 precursor

      See identical proteins and their annotated locations for NP_002834.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC026975, AI218139, AL359057, DR007037, U10886
      Consensus CDS
      CCDS7945.1
      UniProtKB/Swiss-Prot
      Q12913, Q15255, Q6P4H4, Q8NHM2, Q9UDA9
      UniProtKB/TrEMBL
      A0A8V8TP51
      Related
      ENSP00000400010.2, ENST00000418331.7
      Conserved Domains (4) summary
      smart00060
      Location:540615
      FN3; Fibronectin type 3 domain
      smart00194
      Location:10401297
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:10671297
      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:119205
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47980559..48170839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018085.2XP_016873574.1  receptor-type tyrosine-protein phosphatase eta isoform X1

      UniProtKB/TrEMBL
      A0A8V8TP51
    2. XM_047427374.1XP_047283330.1  receptor-type tyrosine-protein phosphatase eta isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      48150119..48340376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369559.1XP_054225534.1  receptor-type tyrosine-protein phosphatase eta isoform X1

      UniProtKB/TrEMBL
      A0A8V8TP51
    2. XM_054369560.1XP_054225535.1  receptor-type tyrosine-protein phosphatase eta isoform X2