Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5801
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol PTPRR   Gene   UCSC   Ensembl
Aliases EC-PTP, PCPTP1, PTP-SL, PTPBR7, PTPRQ
Gene name protein tyrosine phosphatase, receptor type R
Alternate names receptor-type tyrosine-protein phosphatase R, Ch-1 PTPase, NC-PTPCOM1, R-PTP-R, ch-1PTPase, protein tyrosine phosphatase Cr1PTPase, protein-tyrosine phosphatase NC-PTPCOM1, protein-tyrosine phosphatase PCPTP1,
Gene location 12q15 (70920803: 70638072)     Exons: 19     NC_000012.12
Gene summary(Entrez) 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]
OMIM 602853

Protein Summary

Protein general information Q15256  

Name: Receptor type tyrosine protein phosphatase R (R PTP R) (EC 3.1.3.48) (Ch 1PTPase) (NC PTPCOM1) (Protein tyrosine phosphatase PCPTP1)

Length: 657  Mass: 73,834

Tissue specificity: Expressed in brain, placenta, small intestine, stomach, uterus and weakly in the prostate. Isoform alpha has been observed only in the brain. Isoform gamma is expressed in brain, placenta and uterus. Isoform delta is expressed in brain

Sequence MRRAVCFPALCLLLNLHAAGCFSGNNDHFLAINQKKSGKPVFIYKHSQDIEKSLDIAPQKIYRHSYHSSSEAQVS
KRHQIVNSAFPRPAYDPSLNLLAMDGQDLEVENLPIPAANVIVVTLQMDVNKLNITLLRIFRQGVAAALGLLPQQ
VHINRLIGKKNSIELFVSPINRKTGISDALPSEEVLRSLNINVLHQSLSQFGITEVSPEKNVLQGQHEADKIWSK
EGFYAVVIFLSIFVIIVTCLMILYRLKERFQLSLRQDKEKNQEIHLSPITLQPALSEAKTVHSMVQPEQAPKVLN
VVVDPQGRGAPEIKATTATSVCPSPFKMKPIGLQERRGSNVSLTLDMSSLGNIEPFVSIPTPREKVAMEYLQSAS
RILTRSQLRDVVASSHLLQSEFMEIPMNFVDPKEIDIPRHGTKNRYKTILPNPLSRVCLRPKNVTDSLSTYINAN
YIRGYSGKEKAFIATQGPMINTVDDFWQMVWQEDSPVIVMITKLKEKNEKCVLYWPEKRGIYGKVEVLVISVNEC
DNYTIRNLVLKQGSHTQHVKHYWYTSWPDHKTPDSAQPLLQLMLDVEEDRLASQGRGPVVVHCSAGIGRTGCFIA
TSIGCQQLKEEGVVDALSIVCQLRMDRGGMVQTSEQYEFVHHALCLYESRLSAETVQ
Structural information
Protein Domains
Tyrosine-protein (393-647)
Interpro:  IPR029021 IPR000242 IPR016130 IPR003595 IPR008356 IPR016334 IPR000387
Prosite:   PS00383 PS50056 PS50055

Pfam:  
PF00102

PDB:  
2A8B
PDBsum:   2A8B

DIP:  
42066
MINT:   1350037
STRING:   ENSP00000283228;
Other Databases GeneCards:  PTPRR;  Malacards:  PTPRR

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001701 in utero embryonic develo
pment
IEP biological_process
GO:0004725 protein tyrosine phosphat
ase activity
TAS molecular_function
GO:0005001 transmembrane receptor pr
otein tyrosine phosphatas
e activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006470 protein dephosphorylation
TAS biological_process
GO:0010633 negative regulation of ep
ithelial cell migration
IMP biological_process
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0019901 protein kinase binding
ISS molecular_function
GO:0030054 cell junction
IDA cellular_component
GO:0030182 neuron differentiation
IEA biological_process
GO:0035335 peptidyl-tyrosine dephosp
horylation
IEA biological_process
GO:0038128 ERBB2 signaling pathway
IMP biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0070373 negative regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:1903385 regulation of homophilic
cell adhesion
IMP biological_process
GO:0001701 in utero embryonic develo
pment
IEP biological_process
GO:0004721 phosphoprotein phosphatas
e activity
IEA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
IEA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
IEA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
IEA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
TAS molecular_function
GO:0005001 transmembrane receptor pr
otein tyrosine phosphatas
e activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006470 protein dephosphorylation
IEA biological_process
GO:0006470 protein dephosphorylation
IEA biological_process
GO:0006470 protein dephosphorylation
TAS biological_process
GO:0007399 nervous system developmen
t
IEA biological_process
GO:0010633 negative regulation of ep
ithelial cell migration
IMP biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016311 dephosphorylation
IEA biological_process
GO:0016787 hydrolase activity
IEA molecular_function
GO:0016791 phosphatase activity
IEA molecular_function
GO:0019901 protein kinase binding
IEA molecular_function
GO:0019901 protein kinase binding
ISS molecular_function
GO:0030054 cell junction
IDA cellular_component
GO:0030182 neuron differentiation
IEA biological_process
GO:0035335 peptidyl-tyrosine dephosp
horylation
IEA biological_process
GO:0038128 ERBB2 signaling pathway
IMP biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0070373 negative regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:1903385 regulation of homophilic
cell adhesion
IMP biological_process
GO:0001701 in utero embryonic develo
pment
IEP biological_process
GO:0004725 protein tyrosine phosphat
ase activity
TAS molecular_function
GO:0005001 transmembrane receptor pr
otein tyrosine phosphatas
e activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006470 protein dephosphorylation
TAS biological_process
GO:0010633 negative regulation of ep
ithelial cell migration
IMP biological_process
GO:0019901 protein kinase binding
ISS molecular_function
GO:0030054 cell junction
IDA cellular_component
GO:0038128 ERBB2 signaling pathway
IMP biological_process
GO:0070373 negative regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:1903385 regulation of homophilic
cell adhesion
IMP biological_process

KEGG pathways

hsa04010  MAPK signaling pathway

Diseases

Associated diseases References
Endometriosis PMID: 18353903
Endometriosis INFBASE18353903
Parkinson's disease PMID: 17052657

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
18353903 Endometrio
sis

16 (10 patients
with laparosco
pically proven
endometriosis (
minimal/mild n
= 5 and moderat
e/severe n = 5)
, 6 controls)
PCDH17
PTPRR
IL6ST
Show abstract