Human Gene PTPRN (ENST00000409251.7) from GENCODE V44
Description: Homo sapiens protein tyrosine phosphatase receptor type N (PTPRN), transcript variant 2, mRNA. (from RefSeq NM_001199763) RefSeq Summary (NM_001199763): 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 catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]. Gencode Transcript: ENST00000409251.7 Gencode Gene: ENSG00000054356.14 Transcript (Including UTRs) Position: hg38 chr2:219,289,623-219,309,498 Size: 19,876 Total Exon Count: 22 Strand: - Coding Region Position: hg38 chr2:219,290,226-219,309,332 Size: 19,107 Coding Exon Count: 22
ID:PTPRN_HUMAN DESCRIPTION: RecName: Full=Receptor-type tyrosine-protein phosphatase-like N; Short=R-PTP-N; AltName: Full=Islet cell antigen 512; Short=ICA 512; AltName: Full=Islet cell autoantigen 3; AltName: Full=PTP IA-2; Flags: Precursor; FUNCTION: Implicated in neuroendocrine secretory processes. May be involved in processes specific for neurosecretory granules, such as their biogenesis, trafficking or regulated exocytosis or may have a general role in neuroendocrine functions. Seems to lack intrinsic enzyme activity. May play a role in the regulation of secretory granules via its interaction with SNTB2. SUBUNIT: Interacts with phosphorylated SNTB2, protecting it from protein cleavage by CAPN1. Dephosphorylation of SNTB2 upon insulin stimulation disrupts the interaction and results in its cleavage. INTERACTION: Q8WXG6:MADD; NbExp=4; IntAct=EBI-728153, EBI-310528; P62937:PPIA; NbExp=3; IntAct=EBI-728153, EBI-437708; Q13332:PTPRS; NbExp=5; IntAct=EBI-728153, EBI-711536; O14522:PTPRT; NbExp=3; IntAct=EBI-728153, EBI-728180; Q92543:SNX19; NbExp=4; IntAct=EBI-728153, EBI-728232; SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Note=Neuroendocrine secretory granules. TISSUE SPECIFICITY: Expression is restricted to neuroendocrine cells. Found in pancreas, brain and pituitary. PTM: O-glycosylated with core 1 or possibly core 8 glycans. PTM: Appears to undergo multiple proteolytic cleavage at consecutive basic residues. MISCELLANEOUS: Autoantigen in insulin-dependent diabetes mellitus (IDDM). SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily. SIMILARITY: Contains 1 tyrosine-protein phosphatase domain.
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 Q16849
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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.
Biological Process: GO:0000302 response to reactive oxygen species GO:0001553 luteinization GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0009749 response to glucose GO:0019221 cytokine-mediated signaling pathway GO:0030073 insulin secretion GO:0032868 response to insulin GO:0035773 insulin secretion involved in cellular response to glucose stimulus GO:0043627 response to estrogen GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051591 response to cAMP GO:1904692 positive regulation of type B pancreatic cell proliferation GO:1990502 dense core granule maturation
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