{ "uniprot_canonical_ac": "P05451-1", "uniprot_ac": "P05451", "uniprot_id": "REG1A_HUMAN", "mass": { "chemical_mass": 18731.0, "monoisotopic_mass": 18731.0 }, "refseq": { "ac": "NP_002900", "name": "lithostathine-1-alpha precursor", "summary": "This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" }, "gene_names": [ { "name": "REG1A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05451", "id": "P05451" }, { "name": "ICRF; P19; PSP; PSPS; PSPS1; PTP; REG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900", "id": "NP_002900" }, { "name": "PSPS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05451", "id": "P05451" }, { "name": "PSPS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05451", "id": "P05451" }, { "name": "REG1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900", "id": "NP_002900" }, { "name": "REG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05451", "id": "P05451" } ], "protein_names": [ { "name": "Lithostathine-1-alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05451" }, { "name": "ICRF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "Islet cells regeneration factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "Islet of Langerhans regenerating protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "PSP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "PTP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "Pancreatic stone protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "Pancreatic thread protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "REG-1-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "REG", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "Regenerating islet-derived protein 1-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "Regenerating protein I alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05451" }, { "name": "lithostathine-1-alpha precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900", "id": "NP_002900" }, { "name": "pancreatic thread protein; islet cells regeneration factor; pancreatic stone protein, secretory; protein-X; regenerating protein I alpha; islet of langerhans regenerating protein; lithostathine-1-alpha; REG-1-alpha; regenerating islet-derived protein 1-alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900", "id": "NP_002900" } ], "function": [ { "annotation": "Association of Serum PSP/REG Ialpha with Renal Function in Type 2 Diabetes Mellitus. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" }, { "database": "PubMed", "id": "32309450", "url": "https://glygen.org/publication/PubMed/32309450" } ] }, { "annotation": "Carboxypeptidase A1 and regenerating islet-derived 1alpha as new markers for pancreatic acinar cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" }, { "database": "PubMed", "id": "32702400", "url": "https://glygen.org/publication/PubMed/32702400" } ] }, { "annotation": "Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration.", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451#function" } ] }, { "annotation": "Protective and anti-inflammatory role of REG1A in inflammatory bowel disease induced by JAK/STAT3 signaling axis.", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" }, { "database": "PubMed", "id": "33513463", "url": "https://glygen.org/publication/PubMed/33513463" } ] }, { "annotation": "REG1A protects retinal photoreceptors from blue light damage.", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" }, { "database": "PubMed", "id": "37531162", "url": "https://glygen.org/publication/PubMed/37531162" } ] }, { "annotation": "The role of pancreatic stone protein as a prognostic factor for COVID-19 patients.", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" }, { "database": "PubMed", "id": "36111942", "url": "https://glygen.org/publication/PubMed/36111942" } ] }, { "annotation": "This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P05451", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05451" } ], "glycoeffect": [], "start_pos": 109, "end_pos": 109, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "79122845", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R109", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", 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cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115386", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115386" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.28", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000115386", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115386" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115386", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115386" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115386", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115386" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.53", "present": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05451" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05451" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P05451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05451" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"title": "Mechanism of calcite crystal growth inhibition by the N-terminal undecapeptide of lithostathine.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Gerbaud V, Pignol D, Loret E, Bertrand J A, Berland Y, Fontecilla-Camps J C, Canselier J P, Gabas N, Verdier J M", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "10625646", "url": "https://glygen.org/publication/PubMed/10625646" } ] }, { "title": "Signal peptide prediction based on analysis of experimentally verified cleavage sites.", "journal": "Protein Sci.", "date": "2004", "authors": "Zhang Z, Henzel WJ", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "15340161", "url": "https://glygen.org/publication/PubMed/15340161" } ] }, { "title": "Isolation and characterization of human reg protein produced in Saccharomyces cerevisiae.", "journal": "FEBS Lett.", "date": "1990", "authors": "Itoh T, Tsuzuki H, Katoh T, Teraoka H, Matsumoto K, Yoshida N, Terazono K, Watanabe T, Yonekura H, Yamamoto H", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "2226837", "url": "https://glygen.org/publication/PubMed/2226837" } ] }, { "title": "Complete nucleotide sequence of human reg gene and its expression in normal and tumoral tissues. The reg protein, pancreatic stone protein, and pancreatic thread protein are one and the same product of the gene.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Watanabe T, Yonekura H, Terazono K, Yamamoto H, Okamoto H", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "2332435", "url": "https://glygen.org/publication/PubMed/2332435" } ] }, { "title": "Enhanced expression of an exocrine pancreatic protein in Alzheimer's disease and the developing human brain.", "journal": "J. Clin. Invest.", "date": "1990", "authors": "de la Monte SM, Ozturk M, Wands JR", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "2394826", "url": "https://glygen.org/publication/PubMed/2394826" } ] }, { "title": "N-terminal sequence extension in the glycosylated forms of human pancreatic stone protein. The 5-oxoproline N-terminal chain is O-glycosylated on the 5th amino acid residue.", "journal": "Biochimica et biophysica acta", "date": "1989", "authors": "De Caro AM, Adrich Z, Fournet B, Capon C, Bonicel JJ, De Caro JD, Rovery M", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451#ptm_processing" }, { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "2493268", "url": "https://glygen.org/publication/PubMed/2493268" } ] }, { "title": "Secretory pancreatic stone protein messenger RNA. Nucleotide sequence and expression in chronic calcifying pancreatitis.", "journal": "J. Clin. Invest.", "date": "1989", "authors": "Giorgi D, Bernard JP, Rouquier S, Iovanna J, Sarles H, Dagorn JC", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "2525567", "url": "https://glygen.org/publication/PubMed/2525567" } ] }, { "title": "The human reg gene encodes pancreatic stone protein.", "journal": "Biochem. J.", "date": "1989", "authors": "Stewart T A", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "2764894", "url": "https://glygen.org/publication/PubMed/2764894" } ] }, { "title": "A novel gene activated in regenerating islets.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Terazono K, Yamamoto H, Takasawa S, Shiga K, Yonemura Y, Tochino Y, Okamoto H", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "2963000", "url": "https://glygen.org/publication/PubMed/2963000" } ] }, { "title": "Cleavage of the Arg-Ile bond in the native polypeptide chain of human pancreatic stone protein.", "journal": "FEBS Lett.", "date": "1987", "authors": "Rouimi P, Bonicel J, Rovery M, De Caro A", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "3108036", "url": "https://glygen.org/publication/PubMed/3108036" } ] }, { "title": "Association of Serum PSP/REG Ialpha with Renal Function in Type 2 Diabetes Mellitus.", "journal": "Journal of diabetes research", "date": "2020", "authors": "Zhu H, Zhu X, Lin H, Liu D, Dai Y, Su X, Li L", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" } ], "reference": [ { "type": "PubMed", "id": "32309450", "url": "https://glygen.org/publication/PubMed/32309450" } ] }, { "title": "Carboxypeptidase A1 and regenerating islet-derived 1alpha as new markers for pancreatic acinar cell carcinoma.", "journal": "Human pathology", "date": "2020", "authors": "Said S, Kurtin PJ, Nasr SH, Graham RP, Dasari S, Vrana JA, Yasir S, Torbenson MS, Zhang L, Mounajjed T, Eric Chen ZM, Lee HE, Wu TT", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" } ], "reference": [ { "type": "PubMed", "id": "32702400", "url": "https://glygen.org/publication/PubMed/32702400" } ] }, { "title": "Protective and anti-inflammatory role of REG1A in inflammatory bowel disease induced by JAK/STAT3 signaling axis.", "journal": "International immunopharmacology", "date": "2021", "authors": "Mao H, Jia J, Sheng J, Zhang S, Huang K, Li H, He F", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" } ], "reference": [ { "type": "PubMed", "id": "33513463", "url": "https://glygen.org/publication/PubMed/33513463" } ] }, { "title": "Partial amino acid sequence of human pancreatic stone protein, a novel pancreatic secretory protein.", "journal": "Biochem. J.", "date": "1986", "authors": "Montalto G, Bonicel J, Multigner L, Rovery M, Sarles H, De Caro A", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "3541906", "url": "https://glygen.org/publication/PubMed/3541906" } ] }, { "title": "The role of pancreatic stone protein as a prognostic factor for COVID-19 patients.", "journal": "European review for medical and pharmacological sciences", "date": "2022-09", "authors": "Lagadinou M, Paraskevas T, Velissaris D, Michailides C, Eleftherakis G, Sampsonas F, Siakallis G, Assimakopoulos S F, Marangos M", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" } ], "reference": [ { "type": "PubMed", "id": "36111942", "url": "https://glygen.org/publication/PubMed/36111942" } ] }, { "title": "Complete amino acid sequence of an immunoreactive form of human pancreatic stone protein isolated from pancreatic juice.", "journal": "Eur. J. Biochem.", "date": "1987", "authors": "De Caro A M, Bonicel J J, Rouimi P, De Caro J D, Sarles H, Rovery M", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "3665916", "url": "https://glygen.org/publication/PubMed/3665916" } ] }, { "title": "REG1A protects retinal photoreceptors from blue light damage.", "journal": "Annals of the New York Academy of Sciences", "date": "2023-09", "authors": "Xu Ze-Hua, Zhang Hang, Zhang Chang-Jun, Yu Si-Jian, Yuan Jing, Jin Kangxin, Jin Zi-Bing", "evidence": [ { "database": "RefSeq", "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900" } ], "reference": [ { "type": "PubMed", "id": "37531162", "url": "https://glygen.org/publication/PubMed/37531162" } ] }, { "title": "Isolation, characterization, and distribution of an unusual pancreatic human secretory protein.", "journal": "J. Clin. Invest.", "date": "1985", "authors": "Gross J, Carlson R I, Brauer A W, Margolies M N, Warshaw A L, Wands J R", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "3908481", "url": "https://glygen.org/publication/PubMed/3908481" } ] }, { "title": "Crystal structure of human lithostathine, the pancreatic inhibitor of stone formation.", "journal": "EMBO J.", "date": "1996", "authors": "Bertrand J A, Pignol D, Bernard J P, Verdier J M, Dagorn J C, Fontecilla-Camps J C", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "8654365", "url": "https://glygen.org/publication/PubMed/8654365" } ] }, { "title": "What function for human lithostathine?: structural investigations by three-dimensional structure modeling and high-resolution NMR spectroscopy.", "journal": "Protein Eng.", "date": "1996", "authors": "Patard L, Stoven V, Gharib B, Bontems F, Lallemand J Y, De Reggi M", "evidence": [ { "database": "UniProtKB", "id": "P05451", "url": "https://www.uniprot.org/uniprot/P05451" } ], "reference": [ { "type": "PubMed", "id": "8961348", "url": "https://glygen.org/publication/PubMed/8961348" } ] } ], "pathway": [ { "id": "hsa:5967", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5967", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P10758-1", "protein_name": "Lithostathine", "gene_name": "Reg1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTRNKYFILLSCLMVLSPSQGQEAEEDLPSARITCPEGSNAYSSYCYYFMEDHLSWAEADLFCQNMNSGYLVSVLSQAEGNFLASLIKESGTTAANVWIGLHDPKNNRRWHWSSGSLFLYKSWDTGYPNNSNRGYCVSVTSNSGYKKWRDNSCDAQLSFVCKFKA", "length": 165 }, "evidence": [ { "id": "45928856", "url": "http://www.informatics.jax.org/homology/45928856", "database": "MGI" }, { "id": "P05451", "url": 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