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    PTPRR protein tyrosine phosphatase receptor type R [ Homo sapiens (human) ]

    Gene ID: 5801, updated on 9-Dec-2024

    Summary

    Official Symbol
    PTPRRprovided by HGNC
    Official Full Name
    protein tyrosine phosphatase receptor type Rprovided by HGNC
    Primary source
    HGNC:HGNC:9680
    See related
    Ensembl:ENSG00000153233 MIM:602853; AllianceGenome:HGNC:9680
    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
    PTPRQ; EC-PTP; PCPTP1; PTP-SL; PTPBR7
    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 a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]
    Expression
    Biased expression in brain (RPKM 5.7), colon (RPKM 3.2) and 11 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PTPRR in Genome Data Viewer
    Location:
    12q15
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (70638073..70920738, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (70617477..70900236, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (71031853..71314518, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:70861588-70862560 Neighboring gene RNA, U4 small nuclear 65, pseudogene Neighboring gene PTPRB antisense RNA 1 Neighboring gene protein tyrosine phosphatase receptor type B Neighboring gene uncharacterized LOC124902960 Neighboring gene fumarylacetoacetate hydrolase domain containing 2 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:71151597-71152403 Neighboring gene MPRA-validated peak1808 silencer Neighboring gene MPRA-validated peak1809 silencer Neighboring gene MPRA-validated peak1810 silencer Neighboring gene uncharacterized LOC124902961 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:71511486-71512024 Neighboring gene tetraspanin 8

    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

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34328, MGC131968, MGC148170, DKFZp781C1038

    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 kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 
    Component Evidence Code Pubs
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular space HDA PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    receptor-type tyrosine-protein phosphatase R
    Names
    Ch-1 PTPase
    NC-PTPCOM1
    R-PTP-R
    ch-1PTPase
    protein tyrosine phosphatase Cr1PTPase
    protein-tyrosine phosphatase NC-PTPCOM1
    protein-tyrosine phosphatase PCPTP1
    NP_001193944.1
    NP_001193945.1
    NP_002840.2
    NP_570897.2
    XP_011536917.1
    XP_047285189.1
    XP_047285190.1
    XP_047285191.1
    XP_054228701.1
    XP_054228702.1
    XP_054228703.1
    XP_054228704.1

    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.

    mRNA and Protein(s)

    1. NM_001207015.2NP_001193944.1  receptor-type tyrosine-protein phosphatase R isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC083809, AC090676, AK295951, CA435261
      Consensus CDS
      CCDS55848.1
      UniProtKB/TrEMBL
      B7Z956
      Related
      ENSP00000339605.4, ENST00000342084.8
      Conserved Domains (2) summary
      smart00194
      Location:280532
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:305532
      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_001207016.1NP_001193945.1  receptor-type tyrosine-protein phosphatase R isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4, also referred to as isoform delta) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC083809, AC090676, CA435261, DC421975, U77916
      Consensus CDS
      CCDS55847.1
      UniProtKB/TrEMBL
      B7Z956
      Related
      ENSP00000368054.1, ENST00000378778.5
      Conserved Domains (2) summary
      smart00194
      Location:186438
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:211438
      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_002849.4NP_002840.2  receptor-type tyrosine-protein phosphatase R isoform 1 precursor

      See identical proteins and their annotated locations for NP_002840.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1, also referred to as isoform alpha).
      Source sequence(s)
      AC083809, AC090676, CA435261, D64053
      Consensus CDS
      CCDS8998.1
      UniProtKB/Swiss-Prot
      B2R5Z7, B7Z3J1, F5GXR7, O00342, Q15256, Q92682, Q9UE65
      Related
      ENSP00000283228.2, ENST00000283228.7
      Conserved Domains (2) summary
      smart00194
      Location:392644
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:417644
      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_130846.3NP_570897.2  receptor-type tyrosine-protein phosphatase R isoform 2

      See identical proteins and their annotated locations for NP_570897.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2, also referred to as isoform gamma) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC090676, BX571751, CA435261, U77917
      Consensus CDS
      CCDS44945.1
      UniProtKB/TrEMBL
      Q2TAJ3
      Related
      ENSP00000391750.2, ENST00000440835.6
      Conserved Domains (2) summary
      smart00194
      Location:147399
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:172399
      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 ...

    RNA

    1. NR_073474.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC072386, BC119777, BX571751
      Related
      ENST00000551219.5

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      70638073..70920738 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538615.3XP_011536917.1  receptor-type tyrosine-protein phosphatase R isoform X1

      Conserved Domains (2) summary
      smart00194
      Location:384636
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:409636
      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_047429235.1XP_047285191.1  receptor-type tyrosine-protein phosphatase R isoform X4

      UniProtKB/TrEMBL
      B7Z998
      Related
      ENST00000548220.1
    3. XM_047429233.1XP_047285189.1  receptor-type tyrosine-protein phosphatase R isoform X2

    4. XM_047429234.1XP_047285190.1  receptor-type tyrosine-protein phosphatase R isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      70617477..70900236 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372726.1XP_054228701.1  receptor-type tyrosine-protein phosphatase R isoform X1

    2. XM_054372729.1XP_054228704.1  receptor-type tyrosine-protein phosphatase R isoform X4

    3. XM_054372727.1XP_054228702.1  receptor-type tyrosine-protein phosphatase R isoform X2

    4. XM_054372728.1XP_054228703.1  receptor-type tyrosine-protein phosphatase R isoform X3