{ "uniprot_canonical_ac": "A5PLK6-1", "synonyms_protein_refseq": [ "regulator of G-protein signaling protein-like isoform 1", "regulator of G-protein signaling like 2; regulator of G-protein signaling protein-like" ], "sequence": { "header": "sp|A5PLK6-1|RGSL_HUMAN Isoform 1 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 1076, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK" }, "uniprot_id": "RGSL_HUMAN", "synonyms_gene_uniprotkb": [ "RGSL1", "RGSL", "RGSL2" ], "enzyme_annotation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Regulator of G-protein signaling protein-like", "short": "" }, "publication": [ { "title": "G-protein-coupled receptor signaling through Gpr176, Gz, and RGS16 tunes time in the center of the circadian clock [Review].", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28502923", "journal": "Endocrine journal", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" } ], "authors": "Goto K, Doi M, Wang T, Kunisue S, Murai I, Okamura H", "date": "2017", "pmid": "28502923" }, { "title": "Phosphorylation of Gz in human platelets. Selectivity and site of modification.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/1939224", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" } ], "authors": "Lounsbury KM, Casey PJ, Brass LF, Manning DR", "date": "1991", "pmid": "1939224" }, { "title": "Human G(alpha q): cDNA and tissue distribution.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/8664309", "journal": "Biochimica et biophysica acta", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Chen B, Leverette RD, Schwinn DA, Kwatra MM", "date": "1996", "pmid": "8664309" }, { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11007482", "journal": "Cell", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "date": "2000", "pmid": "11007482" }, { "title": "Snapshot of activated G proteins at the membrane: the Galphaq-GRK2-Gbetagamma complex.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16339447", "journal": "Science (New York, N.Y.)", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Tesmer VM, Kawano T, Shankaranarayanan A, Kozasa T, Tesmer JJ", "date": "2005", "pmid": "16339447" }, { "title": "Activation of type II adenylyl cyclase by the cloned mu-opioid receptor: coupling to multiple G proteins.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/7595566", "journal": "Journal of neurochemistry", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" } ], "authors": "Chan JS, Chiu TT, Wong YH", "date": "1995", "pmid": "7595566" }, { "title": "Structure, function, and control of phosphoinositide-specific phospholipase C.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11015615", "journal": "Physiological reviews", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Rebecchi MJ, Pentyala SN", "date": "2000", "pmid": "11015615" }, { "title": "Structural diversity in the RGS domain and its interaction with heterotrimeric G protein alpha-subunits.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18434541", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" } ], "authors": "Soundararajan M, Willard FS, Kimple AJ, Turnbull AP, Ball LJ, Schoch GA, Gileadi C, Fedorov OY, Dowler EF, Higman VA, Hutsell SQ, Sundstrom M, Doyle DA, Siderovski DP", "date": "2008", "pmid": "18434541" }, { "title": "The influence of bound GDP on the kinetics of guanine nucleotide binding to G proteins.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/3086311", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Ferguson KM, Higashijima T, Smigel MD, Gilman AG", "date": "1986", "pmid": "3086311" }, { "title": "Competing modes of self-association in the regulatory domains of Bruton's tyrosine kinase: intramolecular contact versus asymmetric homodimerization.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11742120", "journal": "Protein science : a publication of the Protein Society", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Laederach A, Cradic KW, Brazin KN, Zamoon J, Fulton DB, Huang XY, Andreotti AH", "date": "2002", "pmid": "11742120" }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18577758", "journal": "Science signaling", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" } ], "authors": "Lambert NA", "date": "2008", "pmid": "18577758" }, { "title": "Structural basis of function in heterotrimeric G proteins.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16923326", "journal": "Quarterly reviews of biophysics", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "authors": "Oldham WM, Hamm HE", "date": "2006", "pmid": "16923326" }, { "title": "Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).", "url": "https://www.ncbi.nlm.nih.gov/pubmed/10191087", "journal": "Genomics", "evidence": [ { "url": 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"1991", "pmid": "1905813" }, { "title": "Intermediate phenotypes identify divergent pathways to Alzheimer's disease.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20574532", "journal": "PloS one", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Shulman JM, Chibnik LB, Aubin C, Schneider JA, Bennett DA, De Jager PL", "date": "2010", "pmid": "20574532" }, { "title": "A fragile site within the HPC1 region at 1q25.3 affecting RGS16, RGSL1, and RGSL2 in human breast carcinomas.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18521847", "journal": "Genes, chromosomes & cancer", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Wiechec E, Overgaard J, Hansen LL", "date": "2008", "pmid": "18521847" }, { "title": "Identification of 9 novel transcripts and two RGSL genes within the hereditary prostate cancer region (HPC1) at 1q25.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12801632", "journal": "Gene", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Silva AP, Salim AC, Bulgarelli A, de Souza JE, Osorio E, Caballero OL, Iseli C, Stevenson BJ, Jongeneel CV, de Souza SJ, Simpson AJ, Camargo AA", "date": "2003", "pmid": "12801632" }, { "title": "The vertebrate phototransduction cascade: amplification and termination mechanisms.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16634148", "journal": "Reviews of physiology, biochemistry and pharmacology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "authors": "Chen CK", "date": "2005", "pmid": "16634148" }, { "title": "Presence of three distinct molecular species of Gi protein alpha subunit. Structure of rat cDNAs and human genomic DNAs.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/2834384", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "authors": "Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M, Kaziro Y", "date": "1988", "pmid": "2834384" }, { "title": "Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2).", "url": "https://www.ncbi.nlm.nih.gov/pubmed/8406495", "journal": "Genomics", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "authors": "Morris TA, Fong SL", "date": "1993", "pmid": "8406495" }, { "title": "Selective regulation of Gq signaling by G protein-coupled receptor kinase 2: direct interaction of kinase N terminus with activated galphaq.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/10727532", "journal": "Molecular pharmacology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Sallese M, Mariggio S, D'Urbano E, Iacovelli L, De Blasi A", "date": "2000", "pmid": "10727532" }, { "title": "Phosphorylation of Gz alpha by protein kinase C blocks interaction with the beta gamma complex.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/7559455", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" } ], "authors": "Fields TA, Casey PJ", "date": "1995", "pmid": "7559455" }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11230166", "journal": "Genome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6", "database": "UniProtKB" } ], "authors": "Ansorge W., Bauersachs S., Beyer A., Bloecker H., Blum H., Boecher M., Duesterhoeft A., Gassenhuber J., Glassl S., Heubner D., Klein M., Koehrer K., Korn B., Lauber J., Mewes H.-W., Obermaier B., Ottenwaelder B., Poustka A., Strack N., Tampe J., Wambutt R., Weil B., Wellenreuther R., Wiemann S.", "date": "2001", "pmid": "11230166" }, { "title": "Mechanism of GTP hydrolysis by G-protein alpha subunits.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/7937899", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" } ], "authors": "Kleuss C, Raw AS, Lee E, Sprang SR, Gilman AG", "date": "1994", "pmid": "7937899" }, { "title": "Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/2534964", "journal": "Neuron", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "authors": "Lerea CL, Bunt-Milam AH, Hurley JB", "date": "1989", "pmid": "2534964" }, { "title": "Human taste cells express the G protein alpha-gustducin and neuron-specific enolase.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/8015379", "journal": "Brain research. Molecular brain research", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "authors": "Takami S, Getchell TV, McLaughlin SK, Margolskee RF, Getchell ML", "date": "1994", "pmid": "8015379" }, { "title": "Selective regulation of Galpha(q/11) by an RGS domain in the G protein-coupled receptor kinase, GRK2.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/10567430", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Carman CV, Parent JL, Day PW, Pronin AN, Sternweis PM, Wedegaertner PB, Gilman AG, Benovic JL, Kozasa T", "date": "1999", "pmid": "10567430" }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/15951850", "journal": "International journal of biological sciences", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "authors": "Siderovski DP, Willard FS", "date": "2005", "pmid": "15951850" }, { "title": "Galphaq binds to p110alpha/p85alpha phosphoinositide 3-kinase and displaces Ras.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16268778", "journal": "The Biochemical journal", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Ballou LM, Chattopadhyay M, Li Y, Scarlata S, Lin RZ", "date": "2006", "pmid": "16268778" }, { "title": "Gz-mediated hormonal inhibition of cyclic AMP accumulation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/1347957", "journal": "Science (New York, N.Y.)", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" } ], "authors": "Wong YH, Conklin BR, Bourne HR", "date": "1992", "pmid": "1347957" }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12120503", "journal": "Nature reviews. 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"title": "G protein-coupled receptor kinase-5 regulates thrombin-activated signaling in endothelial cells.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/10861009", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Tiruppathi C, Yan W, Sandoval R, Naqvi T, Pronin AN, Benovic JL, Malik AB", "date": "2000", "pmid": "10861009" }, { "title": "Chromosome 1q25.3 copy number alterations in primary breast cancers detected by multiplex ligation-dependent probe amplification and allelic imbalance assays and its comparison with fluorescent in situ hybridization assays.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23248035", "journal": "Cellular oncology (Dordrecht)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Wiechec 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"Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/2748346", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "authors": "Van Dop C, Medynski DC, Apone LM", "date": "1989", "pmid": "2748346" }, { "title": "A unique fold of phospholipase C-beta mediates dimerization and interaction with G alpha q.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11753430", "journal": "Nature structural biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Singer AU, Waldo GL, Harden TK, Sondek J", "date": "2002", "pmid": "11753430" }, { "title": "High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21135262", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Wiechec E, Wiuf C, Overgaard J, Hansen LL", "date": "2011", "pmid": "21135262" }, { "title": "Assembly of high order G alpha q-effector complexes with RGS proteins.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18936096", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Shankaranarayanan A, Thal DM, Tesmer VM, Roman DL, Neubig RR, Kozasa T, Tesmer JJ", "date": "2008", "pmid": "18936096" }, { "title": "Galphaq binds two effectors separately in cells: evidence for predetermined signaling pathways.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18515384", "journal": "Biophysical journal", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" } ], "authors": "Golebiewska U, Scarlata S", "date": "2008", "pmid": "18515384" } ], "uniprot_ac": "A5PLK6", "synonyms_gene_refseq": [ "RGSL1", "RGSL; RGSL2" ], "mutation": [ { "sequence_org": "I", "subjects_tested": "103", "subjects_positive": "1", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "V", "start_pos": 683, "end_pos": 683, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.0%); num. of cancers (3)." }, { "sequence_org": "I", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "V", "start_pos": 683, "end_pos": 683, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.0%); num. of cancers (3)." }, { "sequence_org": "V", "subjects_tested": "66", "subjects_positive": "1", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "F", "start_pos": 1064, "end_pos": 1064, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "E", "subjects_tested": "94", "subjects_positive": "1", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "*", "start_pos": 286, "end_pos": 286, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." }, { "sequence_org": "M", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "I", "start_pos": 641, "end_pos": 641, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "V", "subjects_tested": "1144", "subjects_positive": "2", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "I", "start_pos": 222, "end_pos": 222, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: Lit. mined (1)." }, { "sequence_org": "W", "subjects_tested": "66", "subjects_positive": "1", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "C", "start_pos": 256, "end_pos": 256, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "I", "subjects_tested": "66", "subjects_positive": "1", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "V", "start_pos": 965, "end_pos": 965, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "I", "subjects_tested": "183", "subjects_positive": "1", "disease": { "doid": "3953", "url": "http://disease-ontology.org/term/DOID:3953", "icd10": "", "name": "Adrenal gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "0.5", "sequence_mut": "V", "start_pos": 683, "end_pos": 683, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "V", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "G", "start_pos": 763, "end_pos": 763, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "Q", "subjects_tested": "66", "subjects_positive": "1", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "K", "start_pos": 788, "end_pos": 788, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "N", "subjects_tested": "25", "subjects_positive": "1", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "4.0", "sequence_mut": "K", "start_pos": 501, "end_pos": 501, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (4.0%)." }, { "sequence_org": "W", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "C", "start_pos": 256, "end_pos": 256, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "G", "subjects_tested": "93", "subjects_positive": "1", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "W", "start_pos": 420, "end_pos": 420, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." }, { "sequence_org": "G", "subjects_tested": "93", "subjects_positive": "1", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "D", "start_pos": 8, "end_pos": 8, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." } ], "synonyms_protein_uniprotkb": [ "Regulator of G-protein signaling protein-like" ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BVE8-1", "isoform_ac": "H3BVE8-1", "locus": { "end_pos": 182450166, "start_pos": 182488301, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000416676", "id": "ENST00000416676", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000458086", "id": "ENSP00000458086", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BVE8-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 160, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNINAQSLV" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RQD8-1", "isoform_ac": "A0A0U1RQD8-1", "locus": { "end_pos": 182473643, "start_pos": 182473885, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634758", "id": "ENST00000634758", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000488942", "id": "ENSP00000488942", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RQD8-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 81, "sequence": "MQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQL" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRA3-1", "isoform_ac": "A0A0U1RRA3-1", "locus": { "end_pos": 182450166, "start_pos": 182458347, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000635407", "id": "ENST00000635407", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489421", "id": "ENSP00000489421", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRA3-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 46, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPLCFAGFWSDTILYC" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRF3-1", "isoform_ac": "A0A0U1RRF3-1", "locus": { "end_pos": 182471287, "start_pos": 182471379, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634626", "id": "ENST00000634626", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489498", "id": "ENSP00000489498", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRF3-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 31, "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYLTG" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRG0-1", "isoform_ac": "A0A0U1RRG0-1", "locus": { "end_pos": 182553470, "start_pos": 182560310, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634801", "id": "ENST00000634801", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489508", "id": "ENSP00000489508", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRG0-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 57, "sequence": "XRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGNLIQPIQTKG" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A3B3ISC9-1", "isoform_ac": "A0A3B3ISC9-1", "locus": { "end_pos": 182488285, "start_pos": 182530361, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000648414", "id": "ENST00000648414", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000497245", "id": "ENSP00000497245", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A3B3ISC9-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 270, "sequence": "MLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEK" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNS3-1", "isoform_ac": "H3BNS3-1", "locus": { "end_pos": 182471287, "start_pos": 182471373, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000447374", "id": "ENST00000447374", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000454981", "id": "ENSP00000454981", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BNS3-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=8 CANONICAL=A5PLK6-1", "length": 29, "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYL" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRN0-1", "isoform_ac": "A0A0U1RRN0-1", "locus": { "end_pos": 182471287, "start_pos": 182472406, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634723", "id": "ENST00000634723", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489611", "id": "ENSP00000489611", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRN0-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=2 CANONICAL=A5PLK6-1", "length": 37, "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEEL" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNR3-1", "isoform_ac": "H3BNR3-1", "locus": { "end_pos": 182471287, "start_pos": 182472487, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000437548", "id": "ENST00000437548", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000454969", "id": "ENSP00000454969", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BNR3-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 64, "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEELVDFWILAENILSIDEMDLEVRDYYLSL" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-6", "isoform_ac": "A5PLK6-6", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A5PLK6-6|RGSL_HUMAN Isoform 6 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 539, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGAKMMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTVGRTLG" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-4", "isoform_ac": "A5PLK6-4", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A5PLK6-4|RGSL_HUMAN Isoform 4 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 402, "sequence": "MSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKR" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-5", "isoform_ac": "A5PLK6-5", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A5PLK6-5|RGSL_HUMAN Isoform 5 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 472, "sequence": "MLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVLFLEGNPLLLTV" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-2", "isoform_ac": "A5PLK6-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A5PLK6-2|RGSL_HUMAN Isoform 2 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 599, "sequence": "MLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-3", "isoform_ac": "A5PLK6-3", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A5PLK6-3|RGSL_HUMAN Isoform 3 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 500, "sequence": "MSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-1", "isoform_ac": "A5PLK6-1", "locus": { "end_pos": 182450166, "start_pos": 182556054, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000294854", "id": "ENST00000294854", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457748", "id": "ENSP00000457748", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5PLK6-1|RGSL_HUMAN Isoform 1 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 1076, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BU64-1", "isoform_ac": "H3BU64-1", "locus": { "end_pos": 182450166, "start_pos": 182551138, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000443996", "id": "ENST00000443996", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457491", "id": "ENSP00000457491", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BU64-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 984, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGAKMMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVLFLEGNPLLLTV" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BRN5-1", "isoform_ac": "H3BRN5-1", "locus": { "end_pos": 182450166, "start_pos": 182488312, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000422241", "id": "ENST00000422241", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000456332", "id": "ENSP00000456332", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BRN5-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 154, "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGEARVSLLKSNWWWCWRDSQEDDEIGSTRNLFPHLDNNCTGRICMICSVPGMMSF" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRF6-1", "isoform_ac": "A0A0U1RRF6-1", "locus": { "end_pos": 182472452, "start_pos": 182473966, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000634679", "id": "ENST00000634679", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489502", "id": "ENSP00000489502", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0U1RRF6-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1", "length": 166, "sequence": "MDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQ" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNQ0-1", "isoform_ac": "H3BNQ0-1", "locus": { "end_pos": 182474522, "start_pos": 182493024, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000415960", "id": "ENST00000415960", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000454954", "id": "ENSP00000454954", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BNQ0-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=2 CANONICAL=A5PLK6-1", "length": 29, "sequence": "AQKEICKMLSPWYDEFLDEEDYWFLLFTT" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "resource": "Reactome", "id": "R-HSA-416476", "name": "G alpha (q) signalling events" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "resource": "Reactome", "id": "R-HSA-418597", "name": "G alpha (z) signalling events" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "resource": "Reactome", "id": "R-HSA-418594", "name": "G alpha (i) signalling events" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:353299", "resource": "KEGG Pathway", "id": "hsa:353299", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "annotation": "Missense mutations in RGSL1 gene is associated with breast cancer.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "annotation": "A detailed mapping of the breakpoints revealed intragenic microdeletions affecting the coding regions of RGSL2, RGSL1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "annotation": "Data indicate that multiplex ligation-dependent probe amplification (MLPA) probes (Fig. 2) corresponding to the RGSL2, RGSL1 and RGS16 genes showed 64.5 % tumour samples with copy number gains and 5 % tumour samples with copy number losses.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F1M608-1", "protein_name": "RGS domain-containing protein", "sequence": { "length": 1073, "sequence": "MSNAEIICSTNLIILLEDETFADFFNTFLSLPVFGQTPFYNVELSQWSLWPEIPYDLITKYKGLLTWLEKYRLPFFCKTNLCFYYILCQELISFVKSPEGGEELLDFWVLAEKILSIDETDEYLKDYYLSLLLVLKATHLQEGSRVVTLCNMDIKSLLNLSIWHPNQSTTRREILSHMQKVALFKIQSYWLPNFYTHAKMTMANEEACHGLLQEYETRLCSVCCTHAGGLPLNMSIKKSHRSQKKYSSKKAKKKMWHLNNPIFWPLETDPKPEVPTKAPEEMSLPERVVLQKPSLGEDSSKETVVHPLCKDLQNAKKPIVKKKSKIQLHMEGLLETTFSNHLRTSTPMINHAAPLVVKKSLKRSLSFGYTHWALCADACAGSPFRYHLKKMNLKAEVQLLDLWQDLQHFVSVLMTNRQNGNALFRHVLGNRICELYLNEQIGPPLPLKPQTLQGLKKLLPSGEVNPWIPKAQREICKMLSSRYDEFRLEGTLWVVEGFRLKQRFIKARWYKESQLTERRHVSFIYSGVQPLAVNAAWLTATRKSVVLFRWQKVGYELAKGGSLSIELTRVKCLQDTSKMSFKDLSFKNPKLAIEKMSEDYKIYCERVPPTDFTVEIIKQPRVSYSQRKISFAKRSVIRKPSMRPRNMTEILLNNAHLEYFREFLKDRKSENPLQFLIAVQKIMMETNEKTYKTSLENITKTYLHGKVPPDKILQCDAPFVKEVVNRHITTPPIAELQGIIMECVEEKWFKEYQDLFPPRPVEVEPVETHVVPRKPSKTITTHLHDSQKRGWIKMISFIKSFCKYRRFVTNAKNLQELTDFIYLEMYNNKENFSSSPTPSARHTPIYPSARNTEPENGEIALVKRRIFGHRIITINFAVNDIYFFSEMEKFNDLVTSAHMLQVNKAYNENDIVLMRSKLNIILKLYLISDLPPKLRVNISESQKDIIFSAITEGHLDRTIFHGAIMSVFPVVMYFWKRFCSWKTRSYIESLGRIEDGRNPPKSVYKYPPWSGGDHTVLRFSLLRGIEWFRPQHPRDVLTNSLQNYQKYPKKKKRKNNHAKSRTEVDDSLSASQY" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A5PLK6/", "id": "A5PLK6", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "H3BL40-1", "protein_name": "Regulator of G-protein-signaling-like 1", "sequence": { "length": 1073, "sequence": "MSNADIICSTNLIILLEDETFADFFNTFLSLPVFGQTPFYNVEKSQWSLWPEVPYDLIAKYKGLLTWLEKYRLPFFCKTNLCFYYILSQELVSFLKSPEGGEELLDFWILAEKILSIDETDKYLKDYYLSLLLVLKATHLQEGSRVVTLCNMDIKSLLNLSIWHPNQSTTRREILSHMQKVALFKIQSYWLPNFYTHAKMTMANEEACHGLMQEYETRLYSVCCAHAGGLPLNMSIKKSRHSQKKYSSKKAKKKIWHLNNPILWPLETDAKPEVPTKPQEELSLPERVVLQKTSLGEDSSKETIIHSLCKDLQNAKKPIVKKKSKIQLHMEGFLETAFTNHLRSSTPIINHAAPLVVKKSLKRSLSFGYTHWALCADACAGSPFRFHLKKMNLKVEVQLLDLWQDLQHFISVLMNNRQNGNALFRHMLGNRICELYLNEQIGPPLPLKPQTLQGLKKLLPSGEVNPWIPKAQREICKVLSPWYDEFLMEEDYWFLIFTTQTRFAKARWHKRETISKEEHILLYKRLQESLVLSQALASMQEIDSMQWQKVATENLRQGGSLQVELTTPVFLQDISKMSFKDLSFKNPKLAIEKMSEDYKIYCEKVPPTAFTVEIIRQPKYSYSQRKTSFVKKSVVRKPSMRPRNLTEVLLNNAHLEYFKEFLKDRKSESPLQFLIAVQKIMMETNEKTYKTSLENITKTYLHGKVPAEEILQCDAPFIKEIANVRHITTTTLLMLQGYVMKSVEEKWFKEYQDLFPPRSVEFEFVEAQAVPRKPSKSTTHLHDSQKRGWIKMIAFIKSFCNYRRFIADANNRQELADFIYLEMFNNKENFSTSPATSARHTPVNLSARNAEQENGDTVLVKRRIFGHRIITINFAVNDMYLFSEMERFNDLVSSAHMLQINRAYNENDIILMRSKLNIIVKLYLVSDLPPKLKVNISESQKDIIISAITEGHLDRTIFHGAIMSIFPVIMYFWKRFCNWKATRSYVEYLGKKFEDGRNPPKSVYKYPPWSGGEHTVLRFSLLRGVEWFRPQHPRDAVPSSLQPYQKYPTTKKRRSNQAKAKADMDGPLTLSQY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/129962", "id": "129962", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "synthesized_glycans": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "ac": "NP_001131141.1", "name": "regulator of G-protein signaling protein-like isoform 1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 1, "name": "Cellular Component" } ] }, "site_annotation": [ { "end_pos": 1045, "annotation": "n_glycosylation_sequon", "start_pos": 1043 }, { "end_pos": 840, "annotation": "n_glycosylation_sequon", "start_pos": 838 }, { "end_pos": 235, "annotation": "n_glycosylation_sequon", "start_pos": 233 }, { "end_pos": 161, "annotation": "n_glycosylation_sequon", "start_pos": 159 }, { "end_pos": 647, "annotation": "n_glycosylation_sequon", "start_pos": 645 }, { "end_pos": 352, "annotation": "n_glycosylation_sequon", "start_pos": 350 }, { "end_pos": 168, "annotation": "n_glycosylation_sequon", "start_pos": 166 }, { "end_pos": 834, "annotation": "n_glycosylation_sequon", "start_pos": 832 } ], "crossref": [ { "url": "https://www.nextprot.org/entry/NX_A5PLK6", "id": "NX_A5PLK6", "database": "neXtProt" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:353299", "id": "hsa:353299", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/611012", "id": "611012", "database": "MIM" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "id": "ENSG00000121446", "database": "Bgee" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A5PLK6", "id": "PR_A5PLK6", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036305", "id": "IPR036305", "database": "InterPro" }, { "url": "http://www.omim.org/entry/611013", "id": "611013", "database": "MIM" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18636", "id": "18636", "database": "HGNC" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016137", "id": "IPR016137", "database": "InterPro" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1", "id": "RGSL1", "database": "GeneCards" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "id": "R-HSA-416476", "database": "Reactome" }, { "url": "http://pfam.xfam.org/family/PF00615", "id": "PF00615", "database": "Pfam" }, { "url": "http://www.orthodb.org/?query=204702at2759", "id": "204702at2759", "database": "OrthoDB" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "id": "R-HSA-418597", "database": "Reactome" }, { "url": "https://omabrowser.org/oma/group/FTTQNKF/", "id": "FTTQNKF", "database": "OMA" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/353299", "id": "353299", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A5PLK6*", "id": "A5PLK6", "database": "IntAct" }, { "url": "https://pharos.nih.gov/targets/A5PLK6", "id": "A5PLK6", "database": "PHAROS" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "id": "R-HSA-418594", "database": "Reactome" } ], "expression_disease": [ { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "icd10": "C73", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6", "id": "A5PLK6", "database": "BioXpress" } ], "url": 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