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    PTPRE protein tyrosine phosphatase receptor type E [ Homo sapiens (human) ]

    Gene ID: 5791, updated on 14-Nov-2024

    Summary

    Official Symbol
    PTPREprovided by HGNC
    Official Full Name
    protein tyrosine phosphatase receptor type Eprovided by HGNC
    Primary source
    HGNC:HGNC:9669
    See related
    Ensembl:ENSG00000132334 MIM:600926; AllianceGenome:HGNC:9669
    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
    PTPE; HPTPE; R-PTP-EPSILON
    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. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]
    Expression
    Broad expression in bone marrow (RPKM 31.9), appendix (RPKM 9.8) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PTPRE in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (127907103..128085855)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (128805632..128984409)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (129705367..129884119)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr10:129702059-129702280 Neighboring gene BUB1 mitotic checkpoint serine/threonine kinase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2931 Neighboring gene clarin 3 Neighboring gene uncharacterized LOC124902557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129733337-129734076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129775634-129776134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129820967-129821467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129843223-129843724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129843725-129844224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4198 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:129860232-129861431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129861772-129862370 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:129867603-129867800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129876659-129877158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129876157-129876658 Neighboring gene lncRNA antisense to PTPRE protein-coding gene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129889651-129890152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129890153-129890652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4201 Neighboring gene marker of proliferation Ki-67 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2933 Neighboring gene NANOG hESC enhancer GRCh37_chr10:129963700-129964282 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:129970982-129972181 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:129999872-130000380 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:130000381-130000888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:130007752-130008313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2936 Neighboring gene long intergenic non-protein coding RNA 1163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:130109218-130109718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:130109719-130110219 Neighboring gene uncharacterized LOC124902558

    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
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog
    Genome-wide association with select biomarker traits in the Framingham Heart Study.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies PTPRE, a member of the protein tyrosine phosphatase family, is important for HIV-1 replication 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

    • FLJ57799, FLJ58245, DKFZp313F1310

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone H2AXY142 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane receptor protein tyrosine phosphatase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of insulin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein dephosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    receptor-type tyrosine-protein phosphatase epsilon
    Names
    protein tyrosine phosphatase, receptor type, epsilon polypeptide
    NP_001303605.1
    NP_001303606.1
    NP_001310283.1
    NP_001310284.1
    NP_001310285.1
    NP_001310286.1
    NP_006495.1
    NP_569119.1
    XP_005252748.1
    XP_011538296.1
    XP_011538297.1
    XP_011538298.1
    XP_011538300.1
    XP_016871956.1
    XP_016871958.1
    XP_047281532.1
    XP_047281533.1
    XP_047281534.1
    XP_047281535.1
    XP_047281536.1
    XP_047281537.1
    XP_047281538.1
    XP_047281539.1
    XP_047281540.1
    XP_054222415.1
    XP_054222416.1
    XP_054222417.1
    XP_054222418.1
    XP_054222419.1
    XP_054222420.1
    XP_054222421.1
    XP_054222422.1
    XP_054222423.1
    XP_054222424.1
    XP_054222425.1
    XP_054222426.1
    XP_054222427.1
    XP_054222428.1
    XP_054222429.1

    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_029511.1 RefSeqGene

      Range
      5043..183795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001316676.2NP_001303605.1  receptor-type tyrosine-protein phosphatase epsilon isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes isoform 3.
      Source sequence(s)
      AF406557, AK026334, AL390236, BC031078, BC050062, BC071573, X54134
      UniProtKB/TrEMBL
      A8K2Z9
      Conserved Domains (2) summary
      smart00194
      Location:145404
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:172404
      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. NM_001316677.2NP_001303606.1  receptor-type tyrosine-protein phosphatase epsilon isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon in place of the first 3 exons and lacks a large part of the 3' UTR compared to variant 3. The resulting isoform (1) is shorter at the N-terminus compared to isoform 3. The encoded protein is a receptor type isoform of this PTP. Variants 1, 4, and 5 all encode the same isoform (1).
      Source sequence(s)
      AK026334, AK291828, BC071573
      Consensus CDS
      CCDS7657.1
      UniProtKB/Swiss-Prot
      P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6
      UniProtKB/TrEMBL
      A8K2Z9
      Conserved Domains (2) summary
      smart00194
      Location:134393
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:453688
      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 ...
    3. NM_001323354.2NP_001310283.1  receptor-type tyrosine-protein phosphatase epsilon isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), along with variants 1 and 4, encodes isoform 1.
      Source sequence(s)
      AL390236
      Consensus CDS
      CCDS7657.1
      UniProtKB/Swiss-Prot
      P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6
      UniProtKB/TrEMBL
      A8K2Z9
      Conserved Domains (2) summary
      smart00194
      Location:134393
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:453688
      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 ...
    4. NM_001323355.2NP_001310284.1  receptor-type tyrosine-protein phosphatase epsilon isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL158166, AL390236
      UniProtKB/TrEMBL
      A8K2Z9
      Conserved Domains (2) summary
      smart00194
      Location:154413
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:181413
      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 ...
    5. NM_001323356.2NP_001310285.1  receptor-type tyrosine-protein phosphatase epsilon isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AL158166, AL390236
      UniProtKB/TrEMBL
      A8K2Z9
    6. NM_001323357.2NP_001310286.1  receptor-type tyrosine-protein phosphatase epsilon isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL390236
      Conserved Domains (1) summary
      cl28904
      Location:260469
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    7. NM_006504.6NP_006495.1  receptor-type tyrosine-protein phosphatase epsilon isoform 1 precursor

      See identical proteins and their annotated locations for NP_006495.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks a 5' exon compared to variant 3. The resulting isoform (1) is shorter at the N-terminus compared to isoform 3. The encoded protein is a receptor type isoform of this PTP. Variants 1, 4, and 5 all encode the same isoform (1).
      Source sequence(s)
      AF406557, AK026334, AL390236, BC031078, BC071573, X54134
      Consensus CDS
      CCDS7657.1
      UniProtKB/Swiss-Prot
      P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6
      UniProtKB/TrEMBL
      A8K2Z9
      Related
      ENSP00000254667.3, ENST00000254667.8
      Conserved Domains (2) summary
      smart00194
      Location:134393
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:453688
      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 ...
    8. NM_130435.5NP_569119.1  receptor-type tyrosine-protein phosphatase epsilon isoform 2

      See identical proteins and their annotated locations for NP_569119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in place of the first 5 exons compared to variant 3. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 3. The encoded protein is a cytoplasmic isoform of this PTP.
      Source sequence(s)
      AK026334, AK290414, AL390236, BC071573, DA470230
      Consensus CDS
      CCDS7658.1
      UniProtKB/TrEMBL
      A8K2Z9
      Related
      ENSP00000303350.5, ENST00000306042.9
      Conserved Domains (2) summary
      smart00194
      Location:76335
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:103335
      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: 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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      127907103..128085855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425578.1XP_047281534.1  receptor-type tyrosine-protein phosphatase epsilon isoform X7

    2. XM_017016467.2XP_016871956.1  receptor-type tyrosine-protein phosphatase epsilon isoform X1

      UniProtKB/TrEMBL
      A8K2Z9
      Conserved Domains (2) summary
      smart00194
      Location:154413
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:181413
      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 ...
    3. XM_011539995.2XP_011538297.1  receptor-type tyrosine-protein phosphatase epsilon isoform X3

      UniProtKB/TrEMBL
      B4DUE5
      Conserved Domains (2) summary
      smart00194
      Location:154413
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:181413
      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 ...
    4. XM_011539996.2XP_011538298.1  receptor-type tyrosine-protein phosphatase epsilon isoform X4

      UniProtKB/TrEMBL
      A8K2Z9
      Conserved Domains (2) summary
      smart00194
      Location:154413
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:181413
      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 ...
    5. XM_011539994.3XP_011538296.1  receptor-type tyrosine-protein phosphatase epsilon isoform X2

      UniProtKB/TrEMBL
      A8K2Z9
      Conserved Domains (2) summary
      smart00194
      Location:154412
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:181412
      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 ...
    6. XM_017016469.3XP_016871958.1  receptor-type tyrosine-protein phosphatase epsilon isoform X12

    7. XM_011539998.2XP_011538300.1  receptor-type tyrosine-protein phosphatase epsilon isoform X14

      Conserved Domains (2) summary
      smart00194
      Location:154355
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:181355
      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 ...
    8. XM_047425577.1XP_047281533.1  receptor-type tyrosine-protein phosphatase epsilon isoform X5

    9. XM_047425576.1XP_047281532.1  receptor-type tyrosine-protein phosphatase epsilon isoform X16

    10. XM_005252691.3XP_005252748.1  receptor-type tyrosine-protein phosphatase epsilon isoform X6

      See identical proteins and their annotated locations for XP_005252748.1

      UniProtKB/Swiss-Prot
      P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6
      UniProtKB/TrEMBL
      A8K2Z9
      Conserved Domains (2) summary
      smart00194
      Location:134393
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:453688
      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 ...
    11. XM_047425582.1XP_047281538.1  receptor-type tyrosine-protein phosphatase epsilon isoform X11

    12. XM_047425579.1XP_047281535.1  receptor-type tyrosine-protein phosphatase epsilon isoform X8

    13. XM_047425580.1XP_047281536.1  receptor-type tyrosine-protein phosphatase epsilon isoform X9

    14. XM_047425581.1XP_047281537.1  receptor-type tyrosine-protein phosphatase epsilon isoform X10

    15. XM_047425583.1XP_047281539.1  receptor-type tyrosine-protein phosphatase epsilon isoform X13

    16. XM_047425584.1XP_047281540.1  receptor-type tyrosine-protein phosphatase epsilon isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      128805632..128984409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366446.1XP_054222421.1  receptor-type tyrosine-protein phosphatase epsilon isoform X7

    2. XM_054366440.1XP_054222415.1  receptor-type tyrosine-protein phosphatase epsilon isoform X1

    3. XM_054366442.1XP_054222417.1  receptor-type tyrosine-protein phosphatase epsilon isoform X3

    4. XM_054366443.1XP_054222418.1  receptor-type tyrosine-protein phosphatase epsilon isoform X4

    5. XM_054366441.1XP_054222416.1  receptor-type tyrosine-protein phosphatase epsilon isoform X2

    6. XM_054366451.1XP_054222426.1  receptor-type tyrosine-protein phosphatase epsilon isoform X12

    7. XM_054366453.1XP_054222428.1  receptor-type tyrosine-protein phosphatase epsilon isoform X14

    8. XM_054366444.1XP_054222419.1  receptor-type tyrosine-protein phosphatase epsilon isoform X5

    9. XM_054366445.1XP_054222420.1  receptor-type tyrosine-protein phosphatase epsilon isoform X6

      UniProtKB/Swiss-Prot
      P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6
    10. XM_054366450.1XP_054222425.1  receptor-type tyrosine-protein phosphatase epsilon isoform X11

    11. XM_054366447.1XP_054222422.1  receptor-type tyrosine-protein phosphatase epsilon isoform X8

    12. XM_054366448.1XP_054222423.1  receptor-type tyrosine-protein phosphatase epsilon isoform X9

    13. XM_054366449.1XP_054222424.1  receptor-type tyrosine-protein phosphatase epsilon isoform X10

    14. XM_054366452.1XP_054222427.1  receptor-type tyrosine-protein phosphatase epsilon isoform X13

    15. XM_054366454.1XP_054222429.1  receptor-type tyrosine-protein phosphatase epsilon isoform X15