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    PTPRU protein tyrosine phosphatase receptor type U [ Homo sapiens (human) ]

    Gene ID: 10076, updated on 2-Nov-2024

    Summary

    Official Symbol
    PTPRUprovided by HGNC
    Official Full Name
    protein tyrosine phosphatase receptor type Uprovided by HGNC
    Primary source
    HGNC:HGNC:9683
    See related
    Ensembl:ENSG00000060656 MIM:602454; AllianceGenome:HGNC:9683
    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
    FMI; PTP; PCP-2; PTP-J; PTPRO; PTPU2; PTP-PI; PTP-RO; PTPPSI; hPTP-J; R-PTP-U; R-PTP-PSI
    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, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]
    Expression
    Broad expression in placenta (RPKM 9.6), lung (RPKM 7.2) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PTPRU in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (29236522..29326800)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (29079179..29169454)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (29563034..29653312)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29482895-29483396 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29490994-29491614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29504446-29504946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29508465-29509102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29509103-29509740 Neighboring gene serine and arginine rich splicing factor 4 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513125-29513770 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513771-29514415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29524789-29525289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 555 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29535731-29536232 Neighboring gene mitochondrial trans-2-enoyl-CoA reductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 610 Neighboring gene uncharacterized LOC124903887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29556822-29557322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29557323-29557823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29569846-29570346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29570347-29570847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29571433-29571934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29575791-29576456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29576457-29577122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29577907-29578624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29581288-29581806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29609955-29610695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29610696-29611435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29617387-29617889 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29637206-29637706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29637707-29638207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29638763-29639340 Neighboring gene Sharpr-MPRA regulatory region 13643 Neighboring gene Sharpr-MPRA regulatory region 8387 Neighboring gene long intergenic non-protein coding RNA 1756 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29685237-29685910 Neighboring gene Sharpr-MPRA regulatory region 1590 Neighboring gene MPRA-validated peak141 silencer Neighboring gene uncharacterized LOC107984933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29779419-29779919 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29781005-29781983 Neighboring gene MPRA-validated peak142 silencer Neighboring gene MPRA-validated peak143 silencer Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:29798359-29798929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29814305-29814937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29814938-29815569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29826683-29827364 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29827365-29828046 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29828047-29828728

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog
    Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

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

    Clone Names

    • FLJ37530

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein 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 transmembrane receptor protein tyrosine phosphatase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    receptor-type tyrosine-protein phosphatase U
    Names
    PTP pi
    Receptor protein tyrosine phosphatase hPTP-J
    pancreatic carcinoma phosphatase 2
    pi R-PTP-Psi
    protein-tyrosine phosphatase J
    protein-tyrosine phosphatase pi
    protein-tyrosine phosphatase receptor omicron
    receptor-type protein-tyrosine phosphatase psi
    NP_001181930.1
    NP_005695.3
    NP_573438.3
    NP_573439.2

    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_033965.1 RefSeqGene

      Range
      5007..95285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195001.2NP_001181930.1  receptor-type tyrosine-protein phosphatase U isoform 4 precursor

      See identical proteins and their annotated locations for NP_001181930.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter than isoform 3.
      Source sequence(s)
      BC033131, BC146655, U73727, X97198
      Consensus CDS
      CCDS53290.1
      UniProtKB/Swiss-Prot
      Q92729
      Related
      ENSP00000392332.2, ENST00000428026.6
      Conserved Domains (4) summary
      smart00137
      Location:22186
      MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
      cd00047
      Location:9131130
      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:386481
      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:494577
      fn3; Fibronectin type III domain
    2. NM_005704.5NP_005695.3  receptor-type tyrosine-protein phosphatase U isoform 3 precursor

      See identical proteins and their annotated locations for NP_005695.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      BC033131, BC146655, U73727, X95712, X97198
      Consensus CDS
      CCDS334.1
      UniProtKB/Swiss-Prot
      A6H8L1, O00197, P78399, Q59HA4, Q5SYU4, Q5SYU5, Q92729, Q92735, Q92850
      Related
      ENSP00000334941.5, ENST00000345512.7
      Conserved Domains (7) summary
      cd06263
      Location:27186
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      smart00137
      Location:22186
      MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
      smart00194
      Location:11751438
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:9231143
      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:484585
      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:291366
      fn3; Fibronectin type III domain
      pfam00102
      Location:9181143
      Y_phosphatase; Protein-tyrosine phosphatase
    3. NM_133177.4NP_573438.3  receptor-type tyrosine-protein phosphatase U isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, contains an alternate in-frame exon, and uses an alternate, in-frame splice site compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is 6 aa shorter than isoform 3.
      Source sequence(s)
      BC033131, BC146655, U71075, U73727, X97198
      Consensus CDS
      CCDS44098.2
      UniProtKB/Swiss-Prot
      Q92729
      Related
      ENSP00000432906.1, ENST00000460170.2
      Conserved Domains (7) summary
      cd06263
      Location:27186
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      smart00137
      Location:22186
      MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
      smart00194
      Location:11711432
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:9131139
      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:484585
      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:291366
      fn3; Fibronectin type III domain
      pfam00102
      Location:9081139
      Y_phosphatase; Protein-tyrosine phosphatase
    4. NM_133178.4NP_573439.2  receptor-type tyrosine-protein phosphatase U isoform 1 precursor

      See identical proteins and their annotated locations for NP_573439.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is 10 aa shorter than isoform 3.
      Source sequence(s)
      BC146655, U73727, X97198
      Consensus CDS
      CCDS335.1
      UniProtKB/Swiss-Prot
      Q92729
      Related
      ENSP00000362884.3, ENST00000373779.8
      Conserved Domains (7) summary
      cd06263
      Location:27186
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      smart00137
      Location:22186
      MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
      smart00194
      Location:11651428
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:9131133
      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:484585
      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:291366
      fn3; Fibronectin type III domain
      pfam00102
      Location:9081133
      Y_phosphatase; Protein-tyrosine phosphatase

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      29236522..29326800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      29079179..29169454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)