{ "uniprot_canonical_ac": "A5PLK6-1", "ptm_annotation": [], "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", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11230166", "type": [ "PubMed" ], "id": "11230166" } ], "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12801632", "type": [ "PubMed" ], "id": "12801632" } ], "title": "Identification of 9 novel transcripts and two RGSL genes within the hereditary prostate cancer region (HPC1) at 1q25.", "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18521847", "type": [ "PubMed" ], "id": "18521847" } ], "title": "A fragile site within the HPC1 region at 1q25.3 affecting RGS16, RGSL1, and RGSL2 in human breast carcinomas.", "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20574532", "type": [ "PubMed" ], "id": "20574532" } ], "title": "Intermediate phenotypes identify divergent pathways to Alzheimer's disease.", "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21135262", "type": [ "PubMed" ], "id": "21135262" } ], "title": "High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer.", "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23248035", "type": [ "PubMed" ], "id": "23248035" } ], "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.", "journal": "Cellular oncology (Dordrecht)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141.1", "id": "NP_001131141.1", "database": "RefSeq" } ], "authors": "Wiechec E, Overgaard J, Kjeldsen E, Hansen LL", "date": "2013" } ], "uniprot_ac": "A5PLK6", "site_annotation": [ { "end_pos": 1045, "annotation": "n_glycosylation_sequon", "start_pos": 1043 }, { "end_pos": 161, "annotation": "n_glycosylation_sequon", "start_pos": 159 }, { "end_pos": 168, "annotation": "n_glycosylation_sequon", "start_pos": 166 }, { "end_pos": 235, "annotation": "n_glycosylation_sequon", "start_pos": 233 }, { "end_pos": 352, "annotation": "n_glycosylation_sequon", "start_pos": 350 }, { "end_pos": 647, "annotation": "n_glycosylation_sequon", "start_pos": 645 }, { "end_pos": 834, "annotation": "n_glycosylation_sequon", "start_pos": 832 }, { "end_pos": 840, "annotation": "n_glycosylation_sequon", "start_pos": 838 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RQD8-1", "isoform_ac": "A0A0U1RQD8-1", "locus": { "end_pos": 182473643, "strand": "-", "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, "strand": "-", "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, "strand": "-", "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#A0A0U1RRF6-1", "isoform_ac": "A0A0U1RRF6-1", "locus": { "end_pos": 182472452, "strand": "-", "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#A0A0U1RRG0-1", "isoform_ac": "A0A0U1RRG0-1", "locus": { "end_pos": 182553470, "strand": "-", "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#A0A0U1RRN0-1", "isoform_ac": "A0A0U1RRN0-1", "locus": { "end_pos": 182471287, "strand": "-", "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#A0A3B3ISC9-1", "isoform_ac": "A0A3B3ISC9-1", "locus": { "end_pos": 182488285, "strand": "-", "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#A5PLK6-1", "isoform_ac": "A5PLK6-1", "locus": { "end_pos": 182450166, "strand": "-", "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#A5PLK6-2", "isoform_ac": "A5PLK6-2", "locus": {}, "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": {}, "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#A5PLK6-4", "isoform_ac": "A5PLK6-4", "locus": {}, "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": {}, "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#A5PLK6-6", "isoform_ac": "A5PLK6-6", "locus": {}, "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#H3BNQ0-1", "isoform_ac": "H3BNQ0-1", "locus": { "end_pos": 182474522, "strand": "-", "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" } }, { "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNR3-1", "isoform_ac": "H3BNR3-1", "locus": { "end_pos": 182471287, "strand": "-", "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#H3BNS3-1", "isoform_ac": "H3BNS3-1", "locus": { "end_pos": 182471287, "strand": "-", "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#H3BRN5-1", "isoform_ac": "H3BRN5-1", "locus": { "end_pos": 182450166, "strand": "-", "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#H3BU64-1", "isoform_ac": "H3BU64-1", "locus": { "end_pos": 182450166, "strand": "-", "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#H3BVE8-1", "isoform_ac": "H3BVE8-1", "locus": { "end_pos": 182450166, "strand": "-", "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" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:353299", "resource": "KEGG Pathway", "id": "hsa:353299", "name": "" }, { "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-418594", "resource": "Reactome", "id": "R-HSA-418594", "name": "G alpha (i) signalling events" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "resource": "Reactome", "id": "R-HSA-418597", "name": "G alpha (z) signalling events" } ], "function": [ { "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" } ] }, { "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" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "I", "start_pos": 683, "alt_nt": "G", "chr_id": "1", "ref_nt": "A", "chr_pos": "182496829", "disease": [ { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } }, { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } }, { "synonyms": [ { "id": "DOID:3953", "url": "http://disease-ontology.org/term/DOID:3953", "resource": "Disease Ontology", "name": "adrenal cancer", "description": "" }, { "id": "DOID:3953", "url": "http://disease-ontology.org/term/DOID:3953", "resource": "Disease Ontology", "name": "adrenal neoplasm", "description": "" }, { "id": "DOID:3953", "url": "http://disease-ontology.org/term/DOID:3953", "resource": "Disease Ontology", "name": "malignant Adrenal tumor", "description": "" }, { "id": "DOID:3953", "url": "http://disease-ontology.org/term/DOID:3953", "resource": "Disease Ontology", "name": "malignant neoplasm of adrenal gland", "description": "" }, { "id": "DOID:3953", "url": "http://disease-ontology.org/term/DOID:3953", "resource": "Disease Ontology", "name": "neoplasm of adrenal gland", "description": "" }, { "id": "DOID:3953", "url": "http://disease-ontology.org/term/DOID:3953", "resource": "Disease Ontology", "name": "tumor of the Adrenal gland", "description": "" } ], "recommended_name": { "id": "DOID:3953", "url": "http://disease-ontology.org/term/DOID:3953", "resource": "Disease Ontology", "name": "adrenal gland cancer", "description": "An endocrine gland cancer located_in the adrenal glands which are located above the kidneys." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.0%); num. of cancers (3).", "end_pos": 683, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "V", "start_pos": 1064, "alt_nt": "T", "chr_id": "1", "ref_nt": "G", "chr_pos": "182523821", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "F", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%). In dbSNP: rs557155006.", "end_pos": 1064, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "V", "start_pos": 222, "alt_nt": "A", "chr_id": "1", "ref_nt": "G", "chr_pos": "182442910", "disease": [ { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "I", "subjects_tested": "1144", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: Lit. mined (1). In dbSNP: rs201581081.", "end_pos": 222, "minor_allelic_frequency": "", "subjects_positive": "2" }, { "sequence_org": "W", "start_pos": 256, "alt_nt": "C", "chr_id": "1", "ref_nt": "G", "chr_pos": "182443014", "disease": [ { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } }, { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "id": "A5PLK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "C", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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