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

Gene ID: 5801, updated on 7-Dec-2018

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
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

Genomic context

See PTPRR in Genome Data Viewer
Location:
12q15
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (70638073..70920804, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (71031853..71314584, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369827 Neighboring gene uncharacterized LOC105369828 Neighboring gene protein tyrosine phosphatase, receptor type B Neighboring gene fumarylacetoacetate hydrolase domain containing 2 pseudogene 1 Neighboring gene tetraspanin 8 Neighboring gene uncharacterized LOC105369831

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?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • 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...
  • MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    MAPK Signaling Pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34328, MGC131968, MGC148170, DKFZp781C1038

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein tyrosine phosphatase activity TAS
Traceable Author Statement
more info
PubMed 
transmembrane receptor protein tyrosine phosphatase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ERBB2 signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
NOT regulation of homophilic cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular space HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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

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.

mRNA and Protein(s)

  1. NM_001207015.1NP_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, DC304601
    Consensus CDS
    CCDS55848.1
    UniProtKB/Swiss-Prot
    Q15256
    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/Swiss-Prot
    Q15256
    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
    Q15256
    Related
    ENSP00000283228.2, ENST00000283228.6
    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_130846.2NP_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/Swiss-Prot
    Q15256
    UniProtKB/TrEMBL
    Q7Z2V8
    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_073474.1 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, BC110900, BC119777, BX571751
    Related
    ENST00000551219.5

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.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    70638073..70920804 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538615.2XP_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 ...

RNA

  1. XR_001748831.2 RNA Sequence

  2. XR_001748830.1 RNA Sequence

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