{ "uniprot_canonical_ac": "P0DML2-1", "uniprot_ac": "P0DML2", "uniprot_id": "CSH1_HUMAN", "mass": { "chemical_mass": 25020.0, "monoisotopic_mass": 25020.0 }, "refseq": { "ac": "NP_001308", "name": "chorionic somatomammotropin hormone 1 precursor", "summary": "The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308" }, "gene_names": [ { "name": "CSH1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DML2", "id": "P0DML2" }, { "name": "CS-1; CSA; CSMT; GHB3; hCS-1; hCS-A; PL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308", "id": "NP_001308" }, { "name": "CSH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308", "id": "NP_001308" } ], "protein_names": [ { "name": "Chorionic somatomammotropin hormone 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DML2" }, { "name": "Choriomammotropin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DML2" }, { "name": "Lactogen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DML2" }, { "name": "PL", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DML2" }, { "name": "Placental lactogen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DML2" }, { "name": "chorionic somatomammotropin A; choriomammotropin; placental lactogen; growth hormone B3; Chorionic somatomammotropin hormone 2; chorionic somatomammotropin-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308", "id": "NP_001308" }, { "name": "chorionic somatomammotropin hormone 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308", "id": "NP_001308" } ], "function": [ { "annotation": "A role for CSH1 haploinsufficiency in the etiology of growth retardation", "evidence": [ { "database": "RefSeq", "id": "NP_001308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308" }, { "database": "PubMed", "id": "14642004", "url": "https://glygen.org/publication/PubMed/14642004" } ] }, { "annotation": "Obesity and regulation of human placental lactogen production in pregnancy. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308" }, { "database": "PubMed", "id": "32500948", "url": "https://glygen.org/publication/PubMed/32500948" } ] }, { "annotation": "Plasmin generates vasoinhibin-like peptides by cleaving prolactin and placental lactogen.", "evidence": [ { "database": "RefSeq", "id": "NP_001308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308" }, { "database": "PubMed", "id": "34601001", "url": "https://glygen.org/publication/PubMed/34601001" } ] }, { "annotation": "Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization.", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2#function" }, { "database": "PubMed", "id": "16546209", "url": "https://glygen.org/publication/PubMed/16546209" } ] }, { "annotation": "The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P0DML2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0DML2" } ], "glycoeffect": [], "start_pos": 117, "end_pos": 117, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "63895580", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R117", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"MAPGSRTSLLLAFALLCLPWLQEAGAVQTVPLSRLFDHAMLQAHRAHQLAIDTYQEFEETYIPKDQKYSFLHDSQTSFCFSDSIPTPSNMEETQQKSNLELLRISLLLIESWLEPVRFLRSMFANNLVYDTSDSDDYHLLKDLEEGIQTLMGRLEDGSRRTGQILKQTYSKFDTNSHNHDALLKNYGLLYCFRKDMDKVETFLRMVQCRSVEGSCGF", "length": 217, "header": "sp|P0DML2-1|CSH1_HUMAN Isoform 1 of Chorionic somatomammotropin hormone 1 OS=Homo sapiens OX=9606 GN=CSH1 PE=1 SV=1 CANONICAL=P0DML2-1" }, "locus": { "chromosome": "17", "start_pos": 63896511, "end_pos": 63895025, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000316193.13", "url": "https://www.ensembl.org/id/ENST00000316193.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000316416.8", "url": "https://www.ensembl.org/id/ENSP00000316416.8" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Identification of protein tyrosine phosphatases with specificity for the ligand-activated growth hormone receptor.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2003", "authors": "Pasquali C, Curchod ML, Walchli S, Espanel X, Guerrier M, Arigoni F, Strous G, Hooft van Huijsduijnen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "12907755", "url": "https://glygen.org/publication/PubMed/12907755" } ] }, { "title": "Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25.", "journal": "Genetic testing", "date": "2003", "authors": "Prager S, Wollmann HA, Mergenthaler S, Mavany M, Eggermann K, Ranke MB, Eggermann T", "evidence": [ { "database": "RefSeq", "id": "NP_001308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308" } ], "reference": [ { "type": "PubMed", "id": "14642004", "url": "https://glygen.org/publication/PubMed/14642004" } ] }, { "title": "Negative regulation of prolactin receptor stability and signaling mediated by SCF(beta-TrCP) E3 ubiquitin ligase.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Li Y, Kumar KG, Tang W, Spiegelman VS, Fuchs SY", "evidence": [ { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "15082796", "url": "https://glygen.org/publication/PubMed/15082796" } ] }, { "title": "Human growth hormone and extracellular domain of its receptor: crystal structure of the complex.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "de Vos AM, Ultsch M, Kossiakoff AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "1549776", "url": "https://glygen.org/publication/PubMed/1549776" } ] }, { "title": "Kinase activation through dimerization by human SH2-B.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Nishi M, Werner ED, Oh BC, Frantz JD, Dhe-Paganon S, Hansen L, Lee J, Shoelson SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "title": "Crystal structure and site 1 binding energetics of human placental lactogen.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Walsh ST, Kossiakoff AA", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" }, { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "16546209", "url": "https://glygen.org/publication/PubMed/16546209" } ] }, { "title": "Ligand-independent dimerization of the human prolactin receptor isoforms: functional implications.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2006", "authors": "Gadd SL, Clevenger CV", "evidence": [ { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "16840534", "url": "https://glygen.org/publication/PubMed/16840534" } ] }, { "title": "Complex signatures of locus-specific selective pressures and gene conversion on human growth hormone/chorionic somatomammotropin genes.", "journal": "Hum. Mutat.", "date": "2008", "authors": "Sedman Laura, Padhukasahasram Badri, Kelgo Piret, Laan Maris", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" } ], "reference": [ { "type": "PubMed", "id": "18473352", "url": "https://glygen.org/publication/PubMed/18473352" } ] }, { "title": "An agonist-induced conformational change in the growth hormone receptor determines the choice of signalling pathway.", "journal": "Nature cell biology", "date": "2008", "authors": "Rowlinson SW, Yoshizato H, Barclay JL, Brooks AJ, Behncken SN, Kerr LM, Millard K, Palethorpe K, Nielsen K, Clyde-Smith J, Hancock JF, Waters MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "18488018", "url": "https://glygen.org/publication/PubMed/18488018" } ] }, { "title": "Dimerization of the extracellular domain of the human growth hormone receptor by a single hormone molecule.", "journal": "Science (New York, N.Y.)", "date": "1991", "authors": "Cunningham BC, Ultsch M, De Vos AM, Mulkerrin MG, Clauser KR, Wells JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "1948064", "url": "https://glygen.org/publication/PubMed/1948064" } ] }, { "title": "Turning the growth hormone receptor on: evidence that hormone binding induces subunit rotation.", "journal": "Proteins", "date": "2010", "authors": "Poger D, Mark AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "19927328", "url": "https://glygen.org/publication/PubMed/19927328" } ] }, { "title": "Crystal structure of an affinity-matured prolactin complexed to its dimerized receptor reveals the topology of hormone binding site 2.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Broutin I, Jomain JB, Tallet E, van Agthoven J, Raynal B, Hoos S, Kragelund BB, Kelly PA, Ducruix A, England P, Goffin V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "20053995", "url": "https://glygen.org/publication/PubMed/20053995" } ] }, { "title": "Investigation of prolactin receptor activation and blockade using time-resolved fluorescence resonance energy transfer.", "journal": "Frontiers in endocrinology", "date": "2011", "authors": "Tallet E, Fernandez I, Zhang C, Salsac M, Gregor N, Ayoub MA, Pin JP, Trinquet E, Goffin V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1170546", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546" } ], "reference": [ { "type": "PubMed", "id": "22649370", "url": "https://glygen.org/publication/PubMed/22649370" } ] }, { "title": "The human growth hormone locus: nucleotide sequence, biology, and evolution.", "journal": "Genomics", "date": "1989", "authors": "Chen EY, Liao YC, Smith DH, Barrera-Saldana HA, Gelinas RE, Seeburg PH", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" } ], "reference": [ { "type": "PubMed", "id": "2744760", "url": "https://glygen.org/publication/PubMed/2744760" } ] }, { "title": "Growth hormone receptor and serum binding protein: purification, cloning and expression.", "journal": "Nature", "date": "1987", "authors": "Leung DW, Spencer SA, Cachianes G, Hammonds RG, Collins C, Henzel WJ, Barnard R, Waters MJ, Wood WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "2825030", "url": "https://glygen.org/publication/PubMed/2825030" } ] }, { "title": "Obesity and regulation of human placental lactogen production in pregnancy.", "journal": "Journal of neuroendocrinology", "date": "2020", "authors": "Cattini PA, Jin Y, Jarmasz JS, Noorjahan N, Bock ME", "evidence": [ { "database": "RefSeq", "id": "NP_001308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308" } ], "reference": [ { "type": "PubMed", "id": "32500948", "url": "https://glygen.org/publication/PubMed/32500948" } ] }, { "title": "Growth hormone promoted tyrosyl phosphorylation of growth hormone receptors in murine 3T3-F442A fibroblasts and adipocytes.", "journal": "Biochemistry", "date": "1988", "authors": "Foster CM, Shafer JA, Rozsa FW, Wang XY, Lewis SD, Renken DA, Natale JE, Schwartz J, Carter-Su C", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "3349036", "url": "https://glygen.org/publication/PubMed/3349036" } ] }, { "title": "Plasmin generates vasoinhibin-like peptides by cleaving prolactin and placental lactogen.", "journal": "Molecular and cellular endocrinology", "date": "2021", "authors": "Friedrich C, Neugebauer L, Zamora M, Robles JP, Martinez de la Escalera G, Clapp C, Bertsch T, Triebel J", "evidence": [ { "database": "RefSeq", "id": "NP_001308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308" } ], "reference": [ { "type": "PubMed", "id": "34601001", "url": "https://glygen.org/publication/PubMed/34601001" } ] }, { "title": "Identification of the interchain disulfide bonds of dimeric human placental lactogen.", "journal": "J. Biol. Chem.", "date": "1979", "authors": "Schneider A B, Kowalski K, Russell J, Sherwood L M", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" } ], "reference": [ { "type": "PubMed", "id": "438159", "url": "https://glygen.org/publication/PubMed/438159" } ] }, { "title": "Amino acid sequence of human chorionic somatomammotropin.", "journal": "Arch. Biochem. Biophys.", "date": "1973", "authors": "Li C H, Dixon J S, Chung D", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" } ], "reference": [ { "type": "PubMed", "id": "4712450", "url": "https://glygen.org/publication/PubMed/4712450" } ] }, { "title": "Amino-acid sequence of human placental lactogen.", "journal": "Nature New Biol.", "date": "1971", "authors": "Sherwood LM, Handwerger S, McLaurin WD, Lanner M", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" } ], "reference": [ { "type": "PubMed", "id": "5286363", "url": "https://glygen.org/publication/PubMed/5286363" } ] }, { "title": "Construction and analysis of recombinant DNA for human chorionic somatomammotropin.", "journal": "Nature", "date": "1977", "authors": "Shine J, Seeburg P H, Martial J A, Baxter J D, Goodman H M", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" } ], "reference": [ { "type": "PubMed", "id": "593368", "url": "https://glygen.org/publication/PubMed/593368" } ] }, { "title": "Analysis of a major human chorionic somatomammotropin gene. Evidence for two functional promoter elements.", "journal": "J. Biol. Chem.", "date": "1984", "authors": "Selby MJ, Barta A, Baxter JD, Bell GI, Eberhardt NL", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" } ], "reference": [ { "type": "PubMed", "id": "6208192", "url": "https://glygen.org/publication/PubMed/6208192" } ] }, { "title": "Two structurally different genes produce the same secreted human placental lactogen hormone.", "journal": "J. Biol. Chem.", "date": "1983", "authors": "Barrera-Salda\u00f1a H A, Seeburg P H, Saunders G F", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" } ], "reference": [ { "type": "PubMed", "id": "6300056", "url": "https://glygen.org/publication/PubMed/6300056" } ] }, { "title": "The human growth hormone gene family: nucleotide sequences show recent divergence and predict a new polypeptide hormone.", "journal": "DNA", "date": "1982", "authors": "Seeburg P H", "evidence": [ { "database": "UniProtKB", "id": "P0DML2", "url": "https://www.uniprot.org/uniprot/P0DML2" } ], "reference": [ { "type": "PubMed", "id": "7169009", "url": "https://glygen.org/publication/PubMed/7169009" } ] }, { "title": "Human growth hormone (GH) receptor is characterized as the 134-kilodalton tyrosine-phosphorylated protein activated by GH treatment in IM-9 cells.", "journal": "Endocrinology", "date": "1993", "authors": "Silva CM, Day RN, Weber MJ, Thorner MO", 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C", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "8343952", "url": "https://glygen.org/publication/PubMed/8343952" } ] }, { "title": "A single STAT recruitment module in a chimeric cytokine receptor complex is sufficient for STAT activation.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Behrmann I, Janzen C, Gerhartz C, Schmitz-Van de Leur H, Hermanns H, Heesel B, Graeve L, Horn F, Tavernier J, Heinrich PC", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "9030599", "url": "https://glygen.org/publication/PubMed/9030599" } ] }, { "title": "A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1997", "authors": "Ross RJ, Esposito N, Shen XY, Von Laue S, Chew SL, Dobson PR, Postel-Vinay MC, Finidori J", "evidence": [ { "database": "Reactome", "id": "R-HSA-982772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772" } ], "reference": [ { "type": "PubMed", "id": "9058373", "url": "https://glygen.org/publication/PubMed/9058373" } ] } ], "pathway": [ { "id": "hsa:1442", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1442", "resource": "KEGG Pathway" }, { "id": "R-HSA-1170546", "name": "Prolactin receptor signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1170546", "resource": "Reactome", "description": "Prolactin receptor signaling" }, { "id": "R-HSA-982772", "name": "Growth hormone receptor signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-982772", "resource": "Reactome", "description": "Growth hormone receptor signaling" } ], 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