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

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: mouse all
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Genomic context

Location:: 12q15

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (70638073..70920738, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (70617477..70900236, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (71031853..71314518, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Re-expression of epigenetically silenced PTPRR by histone acetylation sensitizes RAS-mutant lung adenocarcinoma to SHP2 inhibition.
Title: Re-expression of epigenetically silenced PTPRR by histone acetylation sensitizes RAS-mutant lung adenocarcinoma to SHP2 inhibition.
Identification of PTPRR and JAG1 as key genes in castration-resistant prostate cancer by integrated bioinformatics methods().
Title: Identification of PTPRR and JAG1 as key genes in castration-resistant prostate cancer by integrated bioinformatics methods().
Results suggest that protein tyrosine phosphatase receptor type R (PTPRR) expression might have utility as a prognostic marker for predicting overall survival.
Title: Protein tyrosine phosphatase receptor type R (PTPRR) antagonizes the Wnt signaling pathway in ovarian cancer by dephosphorylating and inactivating β-catenin.
The PTPRR genes were related to possible endophenotypes for suicidal behaviour such as anger, depression-anxiety and fatigue.
Title: Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls.
The development of MDD may be related with the polymorphism of ERK-rs12678428 and PTPRR-rs1513105.
Title: Polymorphism of ERK/PTPRR Genes in Major Depressive Disorder at Resting-State Brain Function.
Results show that PTPRR is an early and direct target of the androgen receptor which negatively regulates the RAS/ERK1/2 pathway suggesting that its loss in prostate cancer cells is one factor that might contribute to activation of the RAS/ERK1/2 pathway.
Title: Androgen-regulation of the protein tyrosine phosphatase PTPRR activates ERK1/2 signalling in prostate cancer cells.
High expression of PTP receptors R and Z1 was observed in all examined cases of colorectal carcinoma, adenoma and normal colon tissue in this study.
Title: Immunohistochemical and Western blot analysis of two protein tyrosine phosphatase receptors, R and Z1, in colorectal carcinoma, colon adenoma and normal colon tissues.
The methylation index of PTPRR recovered from scrapings of uterine cervix adenocarcinomas is significantly higher than in normal controls.
Title: High methylation rate of LMX1A, NKX6-1, PAX1, PTPRR, SOX1, and ZNF582 genes in cervical adenocarcinoma.
3 genes identified by association study and supported by ocular expression and/or replication, UHRF1BP1L, PTPRR, and PPFIA2, are novel candidates for myopic development within the MYP3 locus that should be further studied.
Title: Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.
Methylation of the PTPRR promoter has an important role in the metastasis and may be a biomarker of invasive cervical cancer
Title: Epigenetic silencing of PTPRR activates MAPK signaling, promotes metastasis and serves as a biomarker of invasive cervical cancer.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1025 (e-PCR)
- UniSTS:54796

G64374 (e-PCR)
- UniSTS:163638

SHGC-147260 (e-PCR)
- UniSTS:175703

RH26818 (e-PCR)
- UniSTS:90204

SHGC-143350 (e-PCR)
- UniSTS:171876

RH44886 (e-PCR)
- UniSTS:33382

D12S1496 (e-PCR)
- UniSTS:153997

SHGC-145257 (e-PCR)
- UniSTS:174478

D12S2195 (e-PCR), detects polymorphism
- UniSTS:62870

Ptprr (e-PCR), detects polymorphism
- UniSTS:536491

T03332 (e-PCR)
- UniSTS:27375

SHGC-31640 (e-PCR)
- UniSTS:60918

Clone Names

FLJ34328, MGC131968, MGC148170, DKFZp781C1038

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 transmembrane receptor protein tyrosine phosphatase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in ERBB2 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in in utero embryonic development	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein dephosphorylation	TAS Traceable Author Statement more info	PubMed
NOT involved_in regulation of homophilic cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

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 more info	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

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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

EC 3.1.3.48

NP_001193945.1

EC 3.1.3.48

NP_002840.2

EC 3.1.3.48

NP_570897.2

EC 3.1.3.48

XP_011536917.1

EC 3.1.3.48

XP_047285189.1

EC 3.1.3.48

XP_047285190.1

EC 3.1.3.48

XP_047285191.1

EC 3.1.3.48

XP_054228701.1

EC 3.1.3.48

XP_054228702.1

EC 3.1.3.48

XP_054228703.1

EC 3.1.3.48

XP_054228704.1

EC 3.1.3.48

NCBI Reference Sequences (RefSeq)

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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)

NM_001207015.2 → NP_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:280 → 532

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:305 → 532

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 ...
NM_001207016.1 → NP_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:186 → 438

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:211 → 438

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 ...
NM_002849.4 → NP_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:392 → 644

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:417 → 644

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 ...
NM_130846.3 → NP_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:147 → 399

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:172 → 399

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

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

70638073..70920738 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (2) summary

smart00194
Location:384 → 636

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:409 → 636

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 ...
XM_047429235.1 → XP_047285191.1 receptor-type tyrosine-protein phosphatase R isoform X4

UniProtKB/TrEMBL

B7Z998

Related

ENST00000548220.1
XM_047429233.1 → XP_047285189.1 receptor-type tyrosine-protein phosphatase R isoform X2
XM_047429234.1 → XP_047285190.1 receptor-type tyrosine-protein phosphatase R isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

70617477..70900236 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372726.1 → XP_054228701.1 receptor-type tyrosine-protein phosphatase R isoform X1
XM_054372729.1 → XP_054228704.1 receptor-type tyrosine-protein phosphatase R isoform X4
XM_054372727.1 → XP_054228702.1 receptor-type tyrosine-protein phosphatase R isoform X2
XM_054372728.1 → XP_054228703.1 receptor-type tyrosine-protein phosphatase R isoform X3