Description: Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. RefSeq Summary (NM_002849): 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]. Transcript (Including UTRs) Position: hg19 chr12:71,031,853-71,314,584 Size: 282,732 Total Exon Count: 14 Strand: - Coding Region Position: hg19 chr12:71,032,964-71,314,170 Size: 281,207 Coding Exon Count: 14
ID:PTPRR_HUMAN DESCRIPTION: RecName: Full=Receptor-type tyrosine-protein phosphatase R; Short=R-PTP-R; EC=126.96.36.199; AltName: Full=Ch-1PTPase; AltName: Full=NC-PTPCOM1; AltName: Full=Protein-tyrosine phosphatase PCPTP1; Flags: Precursor; FUNCTION: Sequesters mitogen-activated protein kinases (MAPKs) such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactive form. The MAPKs bind to a dephosphorylated kinase interacting motif, phosphorylation of which by the protein kinase A complex releases the MAPKs for activation and translocation into the nucleus (By similarity). CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. SUBUNIT: Interacts with MAPKs (By similarity). SUBCELLULAR LOCATION: Isoform Alpha: Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform Delta: Cytoplasm, perinuclear region. Note=Locates to the perinuclear areas within the cytoplasm. SUBCELLULAR LOCATION: Isoform Gamma: Cytoplasm, perinuclear region. Note=Locates to the perinuclear areas within the cytoplasm. 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, kidney, placenta, prostate, small intestine and uterus. SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Receptor class 7 subfamily. SIMILARITY: Contains 1 tyrosine-protein phosphatase domain. SEQUENCE CAUTION: Sequence=CAA57957.1; Type=Frameshift; Positions=651; Sequence=CAB01957.1; Type=Frameshift; Positions=651;
Genetic Association Studies of Complex Diseases and Disorders
Parkinson Disease Hon-Chung Fung et al. Lancet neurology 2006, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data., Lancet neurology.
We generated publicly available genotype data for Parkinsons disease patients and controls so that these data can be mined and augmented by other researchers to identify common genetic variability that results in minor and moderate risk for disease.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15256
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.