{ "uniprot_canonical_ac": "A2RRP1-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RRP1-1|NBAS_HUMAN Isoform 1 of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1", "length": 2371, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" }, "uniprot_id": "NBAS_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "taxid": 9606, "name": "Homo sapiens" } ], "crossref_internal": { "gene": [ "NBAS" ], "species": [ 9606 ], "disease": [ "DOID:3571", "DOID:1324", "DOID:1793", "DOID:11934", "DOID:4159", "DOID:11054", "DOID:263", "DOID:9256", "DOID:2531", "DOID:2394", "DOID:1781", "DOID:1612", "DOID:10283", "DOID:363", "DOID:3910", "DOID:10534", "DOID:5041", "DOID:4362", "DOID:3907", "DOID:1319" ], "site": [ "A2RRP1-1.473.473", "A2RRP1-1.382.382", "A2RRP1-1.975.975", "A2RRP1-1.475.475", "A2RRP1-1.511.511", "A2RRP1-1.445.445", "A2RRP1-1.71.71", "A2RRP1-1.1800.1800", "A2RRP1-1.1334.1334", "A2RRP1-1.1519.1519", "A2RRP1-1.1030.1030", "A2RRP1-1.1177.1177", "A2RRP1-1.2295.2295", "A2RRP1-1.1004.1004", "A2RRP1-1.1464.1464", "A2RRP1-1.985.985", "A2RRP1-1.53.53", "A2RRP1-1.243.243", "A2RRP1-1.1450.1450", "A2RRP1-1.2082.2082", "A2RRP1-1.1443.1443", "A2RRP1-1.1757.1757", "A2RRP1-1.1786.1786", "A2RRP1-1.2225.2225", "A2RRP1-1.48.48", "A2RRP1-1.1639.1639", "A2RRP1-1.2052.2052", "A2RRP1-1.570.570", "A2RRP1-1.1242.1242", "A2RRP1-1.1033.1033", "A2RRP1-1.1706.1706", "A2RRP1-1.728.728", "A2RRP1-1.1678.1678", "A2RRP1-1.1073.1073", "A2RRP1-1.2263.2263", "A2RRP1-1.1456.1456" ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/10882752", "type": [ "PubMed" ], "id": "10882752" } ], "title": "Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon.", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "White P.S., Brodeur G.M., Krahe R., Plass C., Rush L.J., Costello J.F., Reiter J.L., Fruehwald M.C., O'Dorisio M.S., Smiraglia D.J., Wenger G.", "date": "2000" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11954550", "type": [ "PubMed" ], "id": "11954550" } ], "title": "A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.", "journal": "Journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12706883", "type": [ "PubMed" ], "id": "12706883" } ], "title": "The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma.", "journal": "Gene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Lu X., Scott D.K., Lunec J., Board J.R., Kenyon R.M., Pearson A.D.J.", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17028906", "type": [ "PubMed" ], "id": "17028906" } ], "title": "Relationship of DDX1 and NAG gene amplification/overexpression to the prognosis of patients with MYCN-amplified neuroblastoma.", "journal": "Journal of cancer research and clinical oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Kaneko S, Ohira M, Nakamura Y, Isogai E, Nakagawara A, Kaneko M", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18318008", "type": [ "PubMed" ], "id": "18318008" } ], "title": "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.", "journal": "Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Gu J., Han G., Jiang X., Wan D., Ye M., Zhou H., Zou H., Feng S., Jiang X.', Tian R.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19369418", "type": [ "PubMed" ], "id": "19369418" } ], "title": "Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport.", "journal": "Mol. Biol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Isobe T., Aoki T., Tagaya M., Itoh A., Shinkawa T., Ichimura S., Kuramoto M.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19608861", "type": [ "PubMed" ], "id": "19608861" } ], "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Choudhary C., Gnad F., Kumar C., Mann M., Nielsen M.L., Olsen J.V., Rehman M., Walther T.C.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20462495", "type": [ "PubMed" ], "id": "20462495" } ], "title": "Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery.", "journal": "Structure", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Ciccarelli F.D., Di Fonzo A., Musacchio A., Santaguida S., Civril F., Giorgi F.M., Grigorean G., Wehenkel A.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20577004", "type": [ "PubMed" ], "id": "20577004" } ], "title": "Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Takahashi H., Kuwano R., Hara K., Takagi M., Nishizawa M., Onodera O., Fujiwara H., Oyama T., Usui T., Maksimova N., Nikolaeva I., Nogovicina A., Sukhomyasova A., Miyashita A., Chun-Feng T., Nishihira Y., Potapova S.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26073778", "type": [ "PubMed" ], "id": "26073778" } ], "title": "Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Baric I., Graf E., Haack T.B., Meitinger T., Prokisch H., Strom T.M., Taylor R.W., Vockley J., Wieland T., Freisinger P., Hoffmann G.F., Zschocke J., Thiel C., Kremer L.S., Bader D.M., Distelmaier F., Gagneur J., Schwarzmayr T., Koelker S., Staufner C., Kotzaeridou U., Kuehr J., Terrile C., Straub B.K., Beisse F., Burgard P., Dikow N., Ghaloul-Gonzalez L., Harting I., Himbert U., Koepke M.G., McKiernan P.J.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26286438", "type": [ "PubMed" ], "id": "26286438" } ], "title": "NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.", "journal": "Am. J. Med. Genet. A", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Superti-Furga A., Munier F.L., Ballhausen D., Candotti F., Bonafe L., Unger S., Rivolta C., Royer-Bertrand B., Garcia Segarra N., Campos-Xavier B., Stevenson B., Crawford H., Perreau M., Russo M., Vermeer C., Zambelli P.Y., van Spaendonck-Zwarts K.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27789416", "type": [ "PubMed" ], "id": "27789416" } ], "title": "Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.", "journal": "Bone", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF, Shackley F, Connolly S, Payne JH, Offiah AC, Hughes D, Parker MJ, Hide W, Skerry TM", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28576691", "type": [ "PubMed" ], "id": "28576691" } ], "title": "Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.", "journal": "European journal of medical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Regateiro FS, Belkaya S, Neves N, Ferreira S, Silvestre P, Lemos S, Venancio M, Casanova JL, Goncalves I, Jouanguy E, Diogo L", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28629372", "type": [ "PubMed" ], "id": "28629372" } ], "title": "Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.", "journal": "BMC gastroenterology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Li JQ, Qiu YL, Gong JY, Dou LM, Lu Y, Knisely AS, Zhang MH, Luan WS, Wang JS", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29369590", "type": [ "PubMed" ], "id": "29369590" } ], "title": "[Population frequency and age of mutation G5741-->A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic].", "journal": "Genetika", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Maksimova NR, Nogovicina AN, Kurtanov KA, Alekseeva EI", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29929043", "type": [ "PubMed" ], "id": "29929043" } ], "title": "Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.", "journal": "Bone", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Palagano E, Zuccarini G, Prontera P, Borgatti R, Stangoni G, Elisei S, Mantero S, Menale C, Forlino A, Uva P, Oppo M, Vezzoni P, Villa A, Merlo GR, Sobacchi C", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/9926938", "type": [ "PubMed" ], "id": "9926938" } ], "title": "Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma.", "journal": "Oncogene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Ambros P.F., Hanash S.M., Kuick R., Lamb B.J., Wimmer K., Kovar H., Zhu X.X., Alberts J.R., Motyka S., Thoraval D.", "date": "1999" } ], "uniprot_ac": "A2RRP1", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RRP1", "type": "synonym", "resource": "RefSeq", "name": "ILFS2; NAG; SOPH" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1", "type": "synonym", "resource": "UniProtKB", "name": "NAG" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RRP1", "type": "synonym", "resource": "RefSeq", "name": "NBAS" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1", "type": "recommended", "resource": "UniProtKB", "name": "NBAS" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1#A2RRP1-1", "isoform_ac": "A2RRP1-1", "locus": { "end_pos": 15167051, "strand": "+", "start_pos": 15561304, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000281513", "id": "ENST00000281513", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000281513", "id": "ENSP00000281513", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RRP1-1|NBAS_HUMAN Isoform 1 of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1", "length": 2371, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#A2RRP1-2", "isoform_ac": "A2RRP1-2", "locus": {}, "sequence": { "header": "sp|A2RRP1-2|NBAS_HUMAN Isoform 2 of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1", "length": 2251, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#C9JCM7-1", "isoform_ac": "C9JCM7-1", "locus": { "end_pos": 15374609, "strand": "+", "start_pos": 15424392, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000441755", "id": "ENST00000441755", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000396501", "id": "ENSP00000396501", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JCM7-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 281, "sequence": "MTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQ" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H0Y5G7-1", "isoform_ac": "H0Y5G7-1", "locus": { "end_pos": 15167050, "strand": "+", "start_pos": 15424394, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000442506", "id": "ENST00000442506", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000398411", "id": "ENSP00000398411", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y5G7-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 1419, "sequence": "XMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7BZR3-1", "isoform_ac": "H7BZR3-1", "locus": { "end_pos": 15167051, "strand": "+", "start_pos": 15190403, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000433283", "id": "ENST00000433283", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000390920", "id": "ENSP00000390920", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BZR3-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 184, "sequence": "VDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7BZU5-1", "isoform_ac": "H7BZU5-1", "locus": { "end_pos": 15393665, "strand": "+", "start_pos": 15417581, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000429842", "id": "ENST00000429842", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391476", "id": "ENSP00000391476", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BZU5-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 204, "sequence": "XKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRNLFTTSLSVDIWVILSFGFYK" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7C007-1", "isoform_ac": "H7C007-1", "locus": { "end_pos": 15190403, "strand": "+", "start_pos": 15238686, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000417461", "id": "ENST00000417461", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000392421", "id": "ENSP00000392421", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C007-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 171, "sequence": "LSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKG" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7C1U4-1", "isoform_ac": "H7C1U4-1", "locus": { "end_pos": 15483359, "strand": "+", "start_pos": 15511303, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000427792", "id": "ENST00000427792", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000402458", "id": "ENSP00000402458", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C1U4-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 100, "sequence": "XASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQVLD" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7C1Y9-1", "isoform_ac": "H7C1Y9-1", "locus": { "end_pos": 15178149, "strand": "+", "start_pos": 15190397, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000423602", "id": "ENST00000423602", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000403119", "id": "ENSP00000403119", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C1Y9-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 137, "sequence": "IADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTDIF" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51594", "resource": "KEGG Pathway", "id": "hsa:51594", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434", "resource": "Reactome", "id": "R-HSA-6811434", "name": "COPI-dependent Golgi-to-ER retrograde traffic" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "A novel compound heterozygous mutations of NBAS (NM_015909.3): c.680A > C (p.His227Pro) were identified in two siblings with acute liver failure.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "A novel homozygous truncating mutation in the NBAS gene was identified in a family with Acrofrontofacionasal Dysostosis type 1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#function", "annotation": "Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1#function", "id": "A2RRP1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "NBAS was the only candidate gene mutated in more than one patient. All NBAS mutations were novel and predictedly pathogenic. Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution. Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related recurrent acute liver failure) Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "The age of the mutation in Yakutia was estimated to be about 804 +/- 140 years. The frequency of heterozygous carriers of mutation G5741-->A (R1914H) in gene NBAS was found, which averaged 13 per 1000 healthy Yakuts", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "There may be a subset of NB in which enhanced DDX1 and low-NAG expression consequent to DDX1 co-amplification without NAG amplification contributes to susceptibility to intensive therapy.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "Variants in NBAS, are reported as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "E9Q411-1", "protein_name": "Neuroblastoma-amplified sequence", "sequence": { "length": 2356, "sequence": "MAAPESAPALSPGSADEEETILYDLLVNTEWPPETEVQLRGNRKHGASFIITKAIRDHLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLANNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVIAPASVFAGDLSYAIAGLVFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHSFSFSGHYPHGINTAIYHPGHRLLLVGGCETAELGISKAASCGLSAWRVLSGSPYYKQVTNGGDRVTEVPKTLGLLKLLSVKLSPRLGQEQDGIFKMGLSPDGSLLAAIHFSGKLSIWAIPSLKQQGVWRQDEQPGYNELNPDWRLSPEKRKKVKDKESFYPLIDVNWWADGAVTLARCSGALTVSSAKSLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRVEMRAGEEDEGEVDSDSDPETSAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIDSEDYEEALCLAHTYGLDTDLVYQRQWRKSAVNSASIHNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALVAIGKGVDDGRFTLPGDIDIDSIAYEELSPADKEPSKSKRQEELKKRRDLLKLVNFSKLTLEQKELCRCRLKLLTFLDRLATYEEILGAPHASEQRYDAEFFKKFRSQNIVLSARTYARESNVQALEILLTYHGSHLLPHRLAILSNFPETTSPHEYAVLLPEACWNNDSLTIIPWAEHKHRAEDWCEELECRMVVEPSLQDDSEFLYAAQPELLQYRTPQLTVEKVMAWYQSRAEDIEHHAGQVDCALSLVRLGVERHIPGLLTLCDDLVTLETLVYEAGCDFTLTLKDLQQMKDFEKLRLLMEHCSEDNYVTSAYQWMVPFLHRCEKQSPGAANELLREYLVTLAKGDLKLPLKIFQHSKPDLQQKIIPDEDQLMAIALECIYNCERSDQLSLCYDILECLPQRGCGHNTKVTSSLHDMVDQLEKILSVSELLKTHGLEKPVSFVKNTQSSSEEARSLMVRLTRHTGRKQPSVGESHWRMLLQDMLTMQQHVYTCLDSSACYEIFTESLLCSSRLENIHLAGQMMQCSACLDNPPAGALHKGRAQYRVSYERSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPAAIQEELDLIQALGYLEEFGVKTLPLQVRLCSDRISLIKECVSQSPTCYKQSAKLLGLAELLRVAGEDPEGRRGQVLILLVEQALHVHDYKVASMYCQQLMAAGYPESWAVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLEASSSLQTEILYQRVNFEIHPEGENISASPLPVKVLQEDAAALGSSSADLLHWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLAYLRPYQGQEFGRAYRIGIVANDDLERQGCHPFYESVIANPFVTEVPVESFAEVLLRTGKLTEAQTQVFPTTEVLLQLASDALPNDMTLALAYLLALPQVLDANKCFEKQAHSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRVDPKELIKMVTGHVAQHGHEGWPEDLLSLSRQLHYYSERLLDFTQAQLLQGLRKGVDVQRFTADDQYKRETILGLAESLEENVYSIALSLAQRYSISQWEVFMTHLEFLFSESGLSTGEIEKRAQTLHLFDTLKTDPESFHKHMVKYIYPTIEGLDHERLLYYFTLLESCGCANFETTAIKPEIHIRLLKKFKVVASGLNYKKLTDKSEDALEALEPVLTSQNILSISKLAPRIPGKHGQMLSPSSLYTVWLQKLFWAGDPHLIKQAPESSAEWLHACDVCLKYFDRLCPDDLITVMDAITFSPKAVSKLSVEAREEMTRKAIKTIKHFIEKPRKRNSEEDPQEGRGSQATYPDALAHLETSLAHLETLSHSFILSLRNSEQEILQKYSYFYDLSRSEKEKIHDQAVAMCLDGQPLRMIQQLLEVAIGPVNISPKDIVHTAITQIISALSGGSADLCGSRDPLQVLEGVVGAVRTSVDNGEELVSAEDVLQWLRPFCAEDTYPVRPRIQVLQLLGQSFHLSEEDGKLLVFFRTEAILRAAWPQRQVDIADIENEENRHTLFSELLESSHREVEFQHLILLLQAWPPMKSECVLANNPWVRLVTAMLTRCTEENKQSLGDEVLKICRSLYNTTQMLPVEGVKELCLLLLHQSLLLPSLKLLLESGEESLQAMALEQISAVTKVNDSNCDQELLSLLVDARLLVKCVSTPFYPHIVGHLVANNQQGRWNIEELARHLQEAGHEVEAGSLLLAVQGTHRVFRTFSIALSAVRQWV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/41073", "id": "41073", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2RRP1/", "id": "A2RRP1", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "F1M0U5-1", "protein_name": "NBAS subunit of NRZ tethering complex", "sequence": { "length": 2357, "sequence": "MAAPESAPALSPGSADEEETILYDLLVNTEWPPETEVQPRGNRKHGASFIITKAIKDHLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLANNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVIAPASVFAGDLSYAIAGLVFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHSFSFADHYPHGVNTAIYHPGHRLLLVGGCETAELGISKASSCGLSAWRVLSGSPYYKQVTNGGDRVTEVPKTLGLLKLLSVKFYTRQGQEQDGIFKMSLSPDGSLLAAIHFSGKLSIWAIPSLKQQGVWRQDEQPGYDELNPDWTLSPEKRKKVKDKESFYPLIDVNWWADGAVTLARCSGALTVSSSKSLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRVEMRAGEEDEGDVDSDWDHETSAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNIASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALVAIGKGVDDGRFTLPGDVDLDGITYEELSPPHKEPAQSKRQKELKKRHELLKLVNFSKLTLEQKELCRCRLKLLTFLDRLATYEEILGAPHASEQRYDAEFFKKFRSQNIVLSARTYARESNVQALEILLTYHGSDLLPHRLAILSNFPETTSPHEYAVLLPEACWNNDSLMIIPWAEQKHRAEDWCEELECRMVVEPGLQDDSEFLYAAQPELLQYRTPQLTVEKAMAWYRSRAQDIEHHAGQVDCALSLVRLGMERHIPGLLTLCDDLVTLETLVYEAGCDFTLTLKDLQQMKDFEKLRLLMERCSEDNYVTSAYQWMVPFLHRCEKQSAGAANELLREYLVTLAKGDLKLPLKIFQHSKPDLQQKIIPDEDQLMAIALECIYNCERSDQLSLCYDILECLPQRGCGLNTKVTSSLHDMVDQLEKILSVSELLKNHGLEKPVSFVKNTQSSSEEARSLMVRLTRRTGRKQPSVGESHWRMLLQDMLTMQQHVYTCLDSSACYEIFTESLLCSSRLENIHLAGQMMQCSACSDNLPAGVVHKGKPQYRVSYERSIDLVLAASREYFNSSTSLTDSCMDLARCCLQLITDRPAAIQEELDLIQALGYLEEFGVKILPLQVRLCSDRISLIKECVSQSPTCYKQSAKLLGLAELLRVAGEDPEERHGQVLILLVEQALNVHDYKAASTYCQELMAAGYPDSWDVCSQLGQAEGFRDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFEIHPEGENINVVSPLTGKVLQEDDTSLGSSSADLLQWTTATTMRVLSNTTTTTRAVLQAVSDGQWWKKSLAYLRPLQGQDFGGAYRIGTVANDDLERQGCHPFYESVIANPFVTEVPVESLAEVLLRTGKLAEAKAQVFPTTEVLLQLASDALPNDMTLALAYLLALPQVLDANKCFEKQAHSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRVDPKELIKMVTRHVAQHGHEAWPEDLLSLTRQLHYYNERLLDFTQAQLLQGLRKGVDVQRFTADDQYKRETILGLAETLEENVYSIALSLAQRYSISQWEVFMTHLEFLFSDSGLSTGEIEKRAQALHLFDTLKTDPESFHKHMVKYIYPTIEGLDHERLLYYFTLLESCGCADFETAAIKPEIHIRLLKKFKVVASGLNYKKLTDKSEDALEALEPVLTSQNILSISKLAPRIPEKEGQMLSPSSLYTVWLQKLFWTGDPHLIKQAPESSAEWLHAYDVCLKYFDRLGPHDLITVVDAITFSPKAVSKLSVEAREEMTRKAIKTVKHFIEKPRKRNSEEDPQEGSGSQATYADALAHLETSLAHLETLSHSFILSLKNSEQEVLQKYSYLYDLSRAEKGKLNDQAVAMCLDGQPLRMIQQLLEVAIGPVNISPKDVVHTAITQIISSLSGTGADLCGSRDPLQVLEGVVGAVRTSVDNGEELVSAEDLLQWLRPFCAEDSCPVRPRIQVLQLLGQSFHLSEEDNKLLVFFRTEAILRAAWPQRQVDVADTESEESRHSLFMELLESSHHEVEFQHLILLLQAWPPMKSECVIANNLWVRLVTVMLTRCTTENKQRLGDEVLKICRSLYNSGQMLPVQGVKELCLLLLHQSLLLPSLKLLLESGDETLQAMALEQISAVTKVNDSNCDQELLSLLVDARLLVKCVSTPFYPHIIAHLVANNQQGRWNAEELARHLQEAGHEAEAGSLLLAVQGTHRVFRTFSTALSALRQWV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RRP1/", "id": "A2RRP1", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "G", "start_pos": 1450, "alt_nt": "A", "chr_id": "2", "ref_nt": "C", "chr_pos": "15468435", "disease": [ { "synonyms": [], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "frequency": "2.4", "sequence_mut": "V", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.4%); patient count (36/1514).", "end_pos": 1450, "minor_allelic_frequency": "", "subjects_positive": "36", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ] }, { "sequence_org": "R", "start_pos": 1004, "alt_nt": "T", "chr_id": "2", "ref_nt": "C", "chr_pos": "15542352", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } }, { "synonyms": [], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "frequency": "2.0", "sequence_mut": "Q", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1004, "minor_allelic_frequency": "", "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ] }, { "sequence_org": "T", "start_pos": 1030, "alt_nt": "A", "chr_id": "2", "ref_nt": "G", "chr_pos": "15536582", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "frequency": "2.0", "sequence_mut": "I", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1030, "minor_allelic_frequency": "", "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ] }, { "sequence_org": "L", "start_pos": 1033, "alt_nt": "A", "chr_id": "2", "ref_nt": "G", "chr_pos": "15536574", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1033, "minor_allelic_frequency": "", "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ] }, { "sequence_org": "R", "start_pos": 1073, "alt_nt": "T", "chr_id": "2", "ref_nt": "C", "chr_pos": "15534390", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "cervical neoplasm", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "cervix cancer", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "cervix uteri cancer", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterine cervix", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "tumor of the Cervix Uteri", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "uterine cervical neoplasm", "id": "DOID:4362" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the cervix.", "name": "cervical cancer", "id": "DOID:4362" } }, { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "Ca body - stomach", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "Ca lesser curvature - stomach", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "ca greater curvature of stomach", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric cancer", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric neoplasm", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of body of stomach", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of lesser curve of stomach", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of body of stomach", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of greater curve of stomach", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of lesser curve of stomach", "id": "DOID:10534" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the stomach.", "name": "stomach cancer", "id": "DOID:10534" } }, { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } } ], "frequency": "0.3", "sequence_mut": "H", "subjects_tested": "350", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs557345395.", "end_pos": 1073, "minor_allelic_frequency": "", "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ] }, { "sequence_org": "A", "start_pos": 1177, "alt_nt": "A", "chr_id": "2", "ref_nt": "C", "chr_pos": "15519787", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1177, "minor_allelic_frequency": "", "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ] }, { "sequence_org": "I", "start_pos": 1242, "alt_nt": "C", "chr_id": "2", "ref_nt": "G", "chr_pos": "15506795", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "frequency": "1.0", "sequence_mut": "M", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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