{ "uniprot_canonical_ac": "A4FU01-1", "ptm_annotation": [], "sequence": { "header": "sp|A4FU01-1|MTMRB_HUMAN Isoform 1 of Myotubularin-related protein 11 OS=Homo sapiens OX=9606 GN=MTMR11 PE=2 SV=2 CANONICAL=A4FU01-1", "length": 709, "sequence": "MWWGGRGQSFNIAPQKEEPEMGSVQENRMPEPRSRQPSSCLASRCLPGEQILAWAPGVRKGLEPELSGTLICTNFRVTFQPCGWQWNQDTPLNSEYDFALVNIGRLEAVSGLSRVQLLRPGSLHKFIPEEILIHGRDFRLLRVGFEAGGLEPQAFQVTMAIVQARAQSNQAQQYSGITLSKAGQGSGSRKPPIPLMETAEDWETERKKQAARGWRVSTVNERFDVATSLPRYFWVPNRILDSEVRRAFGHFHQGRGPRLSWHHPGGSDLLRCGGFYTASDPNKEDIRAVELMLQAGHSDVVLVDTMDELPSLADVQLAHLRLRALCLPDSSVAEDKWLSALEGTRWLDYVRACLRKASDISVLVTSRVRSVILQERGDRDLNGLLSSLVQLLSAPEARTLFGFQSLVQREWVAAGHPFLTRLGGTGASEEAPVFLLFLDCVWQLLQQFPADFEFSEFFLLALHDSVRVPDTLTFLRNTPWERGKQSGQLNSYTQVYTPGYSQPPAGNSFNLQLSVWDWDLRYSNAQILQFQNPGYDPEHCPDSWLPRPQPSFMVPGPPSSVWLFSRGALTPLNQLCPWRDSPSLLAVSSRWLPRPAISSESLADQEWGLPSHWGACPLPPGLLLPGYLGPQIRLWRRCYLRGRPEVQMGLSAPTISGLQDELSHLQELLRKWTPRISPEDHSKKRDPHTILNPTEIAGILKGRAEGDLG" }, "uniprot_id": "", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4FU01", "id": "A4FU01", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12495846", "type": "PubMed", "id": "12495846" } ], "title": "PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease.", "journal": "Trends in cell biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139334.1", "id": "NP_001139334.1", "database": "RefSeq" } ], "authors": "Wishart MJ, Dixon JE", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16787938", "type": "PubMed", "id": "16787938" } ], "title": "Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions.", "journal": "Journal of cell science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139334.1", "id": "NP_001139334.1", "database": "RefSeq" } ], "authors": "Lorenzo O, Urbe S, Clague MJ", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17498563", "type": "PubMed", "id": "17498563" } ], "title": "A common 93-kb duplicated DNA sequence at 1q21.2 in acute lymphoblastic leukemia and Burkitt lymphoma.", "journal": "Cancer Genet. Cytogenet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4FU01", "id": "A4FU01", "database": "UniProtKB" } ], "authors": "Barba G., Mecucci C., Brandimarte L., Crescenzi B., Gorello P., Kropp M.G., La Starza R., Martelli M.F., Matteucci C., Pierini V., Romoli S.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18391951", "type": "PubMed", "id": "18391951" } ], "title": "Many sequence variants affecting diversity of adult human height.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139334.1", "id": "NP_001139334.1", "database": "RefSeq" } ], "authors": "Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H, Halldorsson BV, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A, Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Pedersen O, Aben KK, Witjes JA, Swinkels DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA, Kong A, Thorsteinsdottir U, Stefansson K", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18570454", "type": "PubMed", "id": "18570454" } ], "title": "Proteomic analysis of exosomes from human neural stem cells by flow field-flow fractionation and nanoflow liquid chromatography-tandem mass spectrometry.", "journal": "Journal of proteome research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139334.1", "id": "NP_001139334.1", "database": "RefSeq" } ], "authors": "Kang D, Oh S, Ahn SM, Lee BH, Moon MH", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23563607", "type": "PubMed", "id": "23563607" } ], "title": "Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139334.1", "id": "NP_001139334.1", "database": "RefSeq" } ], "authors": "Berndt SI, Gustafsson S, Magi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, Esko T, Fall T, Ferreira T, Gentilini D, Jackson AU, Luan J, Randall JC, Vedantam S, Willer CJ, Winkler TW, Wood AR, Workalemahu T, Hu YJ, Lee SH, Liang L, Lin DY, Min JL, Neale BM, Thorleifsson G, Yang J, Albrecht E, Amin N, Bragg-Gresham JL, Cadby G, den Heijer M, Eklund N, Fischer K, Goel A, Hottenga JJ, Huffman JE, Jarick I, Johansson A, Johnson T, Kanoni S, Kleber ME, Konig IR, Kristiansson K, Kutalik Z, Lamina C, Lecoeur C, Li G, Mangino M, McArdle WL, Medina-Gomez C, Muller-Nurasyid M, Ngwa JS, Nolte IM, Paternoster L, Pechlivanis S, Perola M, Peters MJ, Preuss M, Rose LM, Shi J, Shungin D, Smith AV, Strawbridge RJ, Surakka I, Teumer A, Trip MD, Tyrer J, Van Vliet-Ostaptchouk JV, Vandenput L, Waite LL, Zhao JH, Absher D, Asselbergs FW, Atalay M, Attwood AP, Balmforth AJ, Basart H, Beilby J, Bonnycastle LL, Brambilla P, Bruinenberg M, Campbell H, Chasman DI, Chines PS, Collins FS, Connell JM, Cookson WO, de Faire U, de Vegt F, Dei M, Dimitriou M, Edkins S, Estrada K, Evans DM, Farrall M, Ferrario MM, Ferrieres J, Franke L, Frau F, Gejman PV, Grallert H, Gronberg H, Gudnason V, Hall AS, Hall P, Hartikainen AL, Hayward C, Heard-Costa NL, Heath AC, Hebebrand J, Homuth G, Hu FB, Hunt SE, Hypponen E, Iribarren C, Jacobs KB, Jansson JO, Jula A, Kahonen M, Kathiresan S, Kee F, Khaw KT, Kivimaki M, Koenig W, Kraja AT, Kumari M, Kuulasmaa K, Kuusisto J, Laitinen JH, Lakka TA, Langenberg C, Launer LJ, Lind L, Lindstrom J, Liu J, Liuzzi A, Lokki ML, Lorentzon M, Madden PA, Magnusson PK, Manunta P, Marek D, Marz W, Mateo Leach I, McKnight B, Medland SE, Mihailov E, Milani L, Montgomery GW, Mooser V, Muhleisen TW, Munroe PB, Musk AW, Narisu N, Navis G, Nicholson G, Nohr EA, Ong KK, Oostra BA, Palmer CN, Palotie A, Peden JF, Pedersen N, Peters A, Polasek O, Pouta A, Pramstaller PP, Prokopenko I, Putter C, Radhakrishnan A, Raitakari O, Rendon A, Rivadeneira F, Rudan I, Saaristo TE, Sambrook JG, Sanders AR, Sanna S, Saramies J, Schipf S, Schreiber S, Schunkert H, Shin SY, Signorini S, Sinisalo J, Skrobek B, Soranzo N, Stancakova A, Stark K, Stephens JC, Stirrups K, Stolk RP, Stumvoll M, Swift AJ, Theodoraki EV, Thorand B, Tregouet DA, Tremoli E, Van der Klauw MM, van Meurs JB, Vermeulen SH, Viikari J, Virtamo J, Vitart V, Waeber G, Wang Z, Widen E, Wild SH, Willemsen G, Winkelmann BR, Witteman JC, Wolffenbuttel BH, Wong A, Wright AF, Zillikens MC, Amouyel P, Boehm BO, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ, Cupples LA, Cusi D, Dedoussis GV, Erdmann J, Eriksson JG, Franks PW, Froguel P, Gieger C, Gyllensten U, Hamsten A, Harris TB, Hengstenberg C, Hicks AA, Hingorani A, Hinney A, Hofman A, Hovingh KG, Hveem K, Illig T, Jarvelin MR, Jockel KH, Keinanen-Kiukaanniemi SM, Kiemeney LA, Kuh D, Laakso M, Lehtimaki T, Levinson DF, Martin NG, Metspalu A, Morris AD, Nieminen MS, Njolstad I, Ohlsson C, Oldehinkel AJ, Ouwehand WH, Palmer LJ, Penninx B, Power C, Province MA, Psaty BM, Qi L, Rauramaa R, Ridker PM, Ripatti S, Salomaa V, Samani NJ, Snieder H, Sorensen TI, Spector TD, Stefansson K, Tonjes A, Tuomilehto J, Uitterlinden AG, Uusitupa M, van der Harst P, Vollenweider P, Wallaschofski H, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Abecasis GR, Assimes TL, Barroso I, Boehnke M, Borecki IB, Deloukas P, Fox CS, Frayling T, Groop LC, Haritunian T, Heid IM, Hunter D, Kaplan RC, Karpe F, Moffatt MF, Mohlke KL, O'Connell JR, Pawitan Y, Schadt EE, Schlessinger D, Steinthorsdottir V, Strachan DP, Thorsteinsdottir U, van Duijn CM, Visscher PM, Di Blasio AM, Hirschhorn JN, Lindgren CM, Morris AP, Meyre D, Scherag A, McCarthy MI, Speliotes EK, North KE, Loos RJ, Ingelsson E", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25281659", "type": "PubMed", "id": "25281659" } ], "title": "A novel common variant in DCST2 is associated with length in early life and height in adulthood.", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139334.1", "id": "NP_001139334.1", "database": "RefSeq" } ], "authors": "van der Valk RJ, Kreiner-Moller E, Kooijman MN, Guxens M, Stergiakouli E, Saaf A, Bradfield JP, Geller F, Hayes MG, Cousminer DL, Korner A, Thiering E, Curtin JA, Myhre R, Huikari V, Joro R, Kerkhof M, Warrington NM, Pitkanen N, Ntalla I, Horikoshi M, Veijola R, Freathy RM, Teo YY, Barton SJ, Evans DM, Kemp JP, St Pourcain B, Ring SM, Davey Smith G, Bergstrom A, Kull I, Hakonarson H, Mentch FD, Bisgaard H, Chawes B, Stokholm J, Waage J, Eriksen P, Sevelsted A, Melbye M, van Duijn CM, Medina-Gomez C, Hofman A, de Jongste JC, Taal HR, Uitterlinden AG, Armstrong LL, Eriksson J, Palotie A, Bustamante M, Estivill X, Gonzalez JR, Llop S, Kiess W, Mahajan A, Flexeder C, Tiesler CM, Murray CS, Simpson A, Magnus P, Sengpiel V, Hartikainen AL, Keinanen-Kiukaanniemi S, Lewin A, Da Silva Couto Alves A, Blakemore AI, Buxton JL, Kaakinen M, Rodriguez A, Sebert S, Vaarasmaki M, Lakka T, Lindi V, Gehring U, Postma DS, Ang W, Newnham JP, Lyytikainen LP, Pahkala K, Raitakari OT, Panoutsopoulou K, Zeggini E, Boomsma DI, Groen-Blokhuis M, Ilonen J, Franke L, Hirschhorn JN, Pers TH, Liang L, Huang J, Hocher B, Knip M, Saw SM, Holloway JW, Melen E, Grant SF, Feenstra B, Lowe WL, Widen E, Sergeyev E, Grallert H, Custovic A, Jacobsson B, Jarvelin MR, Atalay M, Koppelman GH, Pennell CE, Niinikoski H, Dedoussis GV, Mccarthy MI, Frayling TM, Sunyer J, Timpson NJ, Rivadeneira F, Bonnelykke K, Jaddoe VW", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25353672", "type": "PubMed", "id": "25353672" } ], "title": "Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.", "journal": "International journal of cancer", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139334.1", "id": "NP_001139334.1", "database": "RefSeq" } ], "authors": "Fernandez-Navarro P, Gonzalez-Neira A, Pita G, Diaz-Uriarte R, Tais Moreno L, Ederra M, Pedraz-Pingarron C, Sanchez-Contador C, Vazquez-Carrete JA, Moreo P, Vidal C, Salas-Trejo D, Stone J, Southey MC, Hopper JL, Perez-Gomez B, Benitez J, Pollan M", "date": "2015" } ], "uniprot_ac": "A4FU01", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A4FU01", "type": "synonym", "resource": "RefSeq", "name": "CRA" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4FU01", "type": "synonym", "resource": "RefSeq", "name": "MTMR11" }, { "url": "https://www.uniprot.org/uniprot/A4FU01", "type": "recommended", "resource": "UniProtKB", "name": "MTMR11" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4FU01#A4FU01-1", "isoform_ac": "A4FU01-1", "locus": { "end_pos": 149929132, "strand": "+", "start_pos": 149936647, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000439741", "id": "ENST00000439741", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391668", "id": "ENSP00000391668", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4FU01-1|MTMRB_HUMAN Isoform 1 of Myotubularin-related protein 11 OS=Homo sapiens OX=9606 GN=MTMR11 PE=2 SV=2 CANONICAL=A4FU01-1", "length": 709, "sequence": "MWWGGRGQSFNIAPQKEEPEMGSVQENRMPEPRSRQPSSCLASRCLPGEQILAWAPGVRKGLEPELSGTLICTNFRVTFQPCGWQWNQDTPLNSEYDFALVNIGRLEAVSGLSRVQLLRPGSLHKFIPEEILIHGRDFRLLRVGFEAGGLEPQAFQVTMAIVQARAQSNQAQQYSGITLSKAGQGSGSRKPPIPLMETAEDWETERKKQAARGWRVSTVNERFDVATSLPRYFWVPNRILDSEVRRAFGHFHQGRGPRLSWHHPGGSDLLRCGGFYTASDPNKEDIRAVELMLQAGHSDVVLVDTMDELPSLADVQLAHLRLRALCLPDSSVAEDKWLSALEGTRWLDYVRACLRKASDISVLVTSRVRSVILQERGDRDLNGLLSSLVQLLSAPEARTLFGFQSLVQREWVAAGHPFLTRLGGTGASEEAPVFLLFLDCVWQLLQQFPADFEFSEFFLLALHDSVRVPDTLTFLRNTPWERGKQSGQLNSYTQVYTPGYSQPPAGNSFNLQLSVWDWDLRYSNAQILQFQNPGYDPEHCPDSWLPRPQPSFMVPGPPSSVWLFSRGALTPLNQLCPWRDSPSLLAVSSRWLPRPAISSESLADQEWGLPSHWGACPLPPGLLLPGYLGPQIRLWRRCYLRGRPEVQMGLSAPTISGLQDELSHLQELLRKWTPRISPEDHSKKRDPHTILNPTEIAGILKGRAEGDLG" } }, { "url": "https://www.uniprot.org/uniprot/A4FU01#A4FU01-2", "isoform_ac": "A4FU01-2", "locus": {}, "sequence": { "header": "sp|A4FU01-2|MTMRB_HUMAN Isoform 2 of Myotubularin-related protein 11 OS=Homo sapiens OX=9606 GN=MTMR11 PE=2 SV=2 CANONICAL=A4FU01-1", "length": 268, "sequence": "MWWGGRGQSFNIAPQKEEPEMGSVQENRMPEPRSRQPSSCLASRCLPGEQILAWAPGVRKGLEPELSGTLICTNFRVTFQPCGWQWNQDTPLNSEYDFALVNIGRLEAVSGLSRVQLLRPGSLHKFIPEEILIHGRDFRLLRVGFEAGGLEPQAFQVTMAIVQARAQSNQAQQYSGITLSKAGQGSGSRKPPIPLMETAEDWETERKKQAARGWRVSTVNERFDVATSLPRYFWVPNRILDSEVRRAFGHFHQGRGPVSVMVRVMAVD" } }, { "url": "https://www.uniprot.org/uniprot/A4FU01#A4FU01-3", "isoform_ac": "A4FU01-3", "locus": {}, "sequence": { "header": "sp|A4FU01-3|MTMRB_HUMAN Isoform 3 of Myotubularin-related protein 11 OS=Homo sapiens OX=9606 GN=MTMR11 PE=2 SV=2 CANONICAL=A4FU01-1", "length": 240, "sequence": "MPEPRSRQPSSCLASRCLPGEQILAWAPGVRKGLEPELSGTLICTNFRVTFQPCGWQWNQDTPLNSEYDFALVNIGRLEAVSGLSRVQLLRPGSLHKFIPEEILIHGRDFRLLRVGFEAGGLEPQAFQVTMAIVQARAQSNQAQQYSGITLSKAGQGSGSRKPPIPLMETAEDWETERKKQAARGWRVSTVNERFDVATSLPRYFWVPNRILDSEVRRAFGHFHQGRGPVSVMVRVMAVD" } }, { "url": "https://www.uniprot.org/uniprot/A4FU01#A4FU01-4", "isoform_ac": "A4FU01-4", "locus": { "end_pos": 149928870, "strand": "+", "start_pos": 149936164, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000369140", "id": "ENST00000369140", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000358136", "id": "ENSP00000358136", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4FU01-4|MTMRB_HUMAN Isoform 4 of Myotubularin-related protein 11 OS=Homo sapiens OX=9606 GN=MTMR11 PE=2 SV=2 CANONICAL=A4FU01-1", "length": 640, "sequence": "MPPRVTFQPCGWQWNQDTPLNSEYDFALVNIGRLEAVSGLSRVQLLRPGSLHKFIPEEILIHGRDFRLLRVGFEAGGLEPQAFQVTMAIVQARAQSNQAQQYSGITLSKAGQGSGSRKPPIPLMETAEDWETERKKQAARGWRVSTVNERFDVATSLPRYFWVPNRILDSEVRRAFGHFHQGRGPRLSWHHPGGSDLLRCGGFYTASDPNKEDIRAVELMLQAGHSDVVLVDTMDELPSLADVQLAHLRLRALCLPDSSVAEDKWLSALEGTRWLDYVRACLRKASDISVLVTSRVRSVILQERGDRDLNGLLSSLVQLLSAPEARTLFGFQSLVQREWVAAGHPFLTRLGGTGASEEAPVFLLFLDCVWQLLQQFPADFEFSEFFLLALHDSVRVPDTLTFLRNTPWERGKQSGQLNSYTQVYTPGYSQPPAGNSFNLQLSVWDWDLRYSNAQILQFQNPGYDPEHCPDSWLPRPQPSFMVPGPPSSVWLFSRGALTPLNQLCPWRDSPSLLAVSSRWLPRPAISSESLADQEWGLPSHWGACPLPPGLLLPGYLGPQIRLWRRCYLRGRPEVQMGLSAPTISGLQDELSHLQELLRKWTPRISPEDHSKKRDPHTILNPTEIAGILKGQSHPFWITRC" } }, { "url": "https://www.uniprot.org/uniprot/A4FU01#A4FU01-5", "isoform_ac": "A4FU01-5", "locus": {}, "sequence": { "header": "sp|A4FU01-5|MTMRB_HUMAN Isoform 5 of Myotubularin-related protein 11 OS=Homo sapiens OX=9606 GN=MTMR11 PE=2 SV=2 CANONICAL=A4FU01-1", "length": 272, "sequence": "MWWGGRGQSFNIAPQKEEPEMGSVQENRMPEPRSRQPSSCLASRCLPGEQILAWAPGVRKGLEPELSGTLICTNFRVTFQPCGWQWNQDTPLNSEYDFALVNIGRLEAVSGLSRVQLLRPGSLHKFIPEEILIHGRDFRLLRVGFEAGGLEPQAFQVTMAIVQARAQSNQAQQYSGITLSKAGQGSGSRKPPIPLMETAEDWETERKKQAARGWRVSTVNERFDVATRLRCFSSSLIVSGSSSSSFQLILNSLSFSFLLFMTVSGFLTPLPS" } }, { "url": "https://www.uniprot.org/uniprot/A4FU01#A4FU01-6", "isoform_ac": "A4FU01-6", "locus": {}, "sequence": { "header": "sp|A4FU01-6|MTMRB_HUMAN Isoform 6 of Myotubularin-related protein 11 OS=Homo sapiens OX=9606 GN=MTMR11 PE=2 SV=2 CANONICAL=A4FU01-1", "length": 354, "sequence": "MPEPRSRQPSSCLASRCLPGEQILAWAPGVRKGLEPELSGTLICTNFRVTFQPCGWQWNQDTPLNSEYDFALVNIGRLEAVSGLSRVQLLRPGSLHKFIPEEILIHGRDFRLLRVGFEAGGLEPQAFQVTMAIVQARAQSNQAQQYSGITLSKAGQGSGSRKPPIPLMETAEDWETERKKQAARGWRVSTVNERFDVATSLPRYFWVPNRILDSEVRRAFGHFHQGRGPRLSWHHPGGSDLLRCGGFYTASDPNKEDIRAVELMLQAGHSDVVLVDTMDELPSLADVQLAHLRLRALCLPDSSVAEDKWLSALEGTRWLDYVRACLRKASDISVLVTSRVRSVILQGSGVSPLP" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10903", "resource": "KEGG Pathway", "id": "hsa:10903", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139334.1", "annotation": "Genome wide association study shows evidence of association between mammographic density and SNPs in high linkage disequilibrium with rs11205277, rs11205303 in gene MTMR11 and rs67807996 in gene OTUD7B.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139334.1", "id": "NP_001139334.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZQH5-1", "protein_name": "Myotubularin-related protein 11", "sequence": { "length": 700, "sequence": "MWWGGRGQSFNIAPQKEEPELGFSGPKSDPGNRMPEPSSHQLGSCLASGCLPGEHILAWAPGRRKGPGLELPGTLICTNFRVTFQPCGWQRNQDTPLSSEYDFALINIGRLEAVSGLSRVQLLRPGSQLKFIPEEVLIHGRDFRLLRIGFEAGGLAPQAFQVTMAIIQARAQSSQVQQYRGITLSKAGKVSGSRKPPIPLLETLEDWETERKKQGARGWRVSMVNERFDVATSLSGYFWVPNRILDSEVRRAFAHFHQGRGPRLSWHHPGGSDLLRCAGFYIASDPNKEDIRAVELMLQAGHSDVVLVDTMDEMPSLADVQLAHLKLRALCLPDSSVAEDKWLSALEGTRWLDYVRSCLRKASDISVLVTSRVRSVVLQERGDRDFNGLLSSLVQLLLAPEARTLFGFQSLVQREWVAAGHPFLTRLGETGASEEAPVLPLFLDCAWQLLQQFPAEFEFSEFFLLALHDSIRVPDTLTFLRNTPWERGKKSGQFNSYTQVYTPEYSQPLAGSPANLHLSVWDWDLRYSKEQISQFLNPGYDPEHCPDSGLPRQQPSLMVPGSPSSMWLFSRGALTPLNQLCPWQDSTSLLTVSSHWLPRPARSSESLADQEWGLPSHWGACPLPPGLLLPGYLGPQIRFWKRCYLRGRPEVQIGSSALTISGLQDELSHLQELLRKWTPRISPEDHSKKRDPNTILSQIC" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4FU01/", "id": "A4FU01", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/82382", "id": "82382", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Mtmr11", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q3V1L6-1", "protein_name": "Myotubularin-related protein 11", "sequence": { "length": 700, "sequence": "MWWGGRGQSFNIAPQKEEPEMGLSGPKSNPGNRMPEPSSHQLGSCLASGCLPGEHILAWAPGRRKGPGLDLPGTLICTNFRVTFQPCGWQRKQDTPLSSENDFALINIGRLEAVSGLSRVQLLRPGSQLKFIPEELLLHGRDFRLLRVGFEAGGLAPQAFQVTMAIIQARAQSSQVQQYRGITLSKVGKVSGSRKPPIPLLETLEDWETECKKQGARGWRVSTVNERFDVATSLSGYFWVPNRILDSEVRRAFAHFHQGRGPRLSWHHPGGSDLLRCGGFYIASDPNKEDIRAVESMLQAGHSDVVLVETMDEMPSLADIQLAHLKLRALCLPDSSVAEDKWLSALEGTRWLDYVRSCLRKASDISVLVTSRVRSVVLQELGDRDFNGLLSSLVQLLLAPEARTLFGFQSLVQREWVAAGHPFLTRLGDTGASEEAPVFPLFLDCAWQLLQQFPAEFEFSEFFLLALHDSIRVPDTLTFLRNTPWERGKKSGQFNSYTQVYTPEYSQPLAGSSANLHLSVWDWDLRYSKEQISQFLNPGYDPEHCPDSRFSRQQQSLMVPGPPSSMWLFSRGTLTPLNQLCPWQDSSSLLAVSSHWLPRPARSSESLADQEWGLPSHWGACPLPPGLLLPGYLGPQIRFWKRCYLRGRPEVQMGSSALTVSALQDELSHLQELLRQWTPRISPEDQSKKRDPNTILSQIC" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4FU01/", "id": "A4FU01", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/82382", "id": "82382", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Mtmr11", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "Q", "start_pos": 153, "alt_nt": "A", "chr_id": "1", "subjects_positive": "1", "chr_pos": "149906888", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "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": "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": "Thyroid gland neoplasm", "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" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU01", "id": "A4FU01", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "H", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 153, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%).", "sequence_org": "D", "start_pos": 224, "alt_nt": "T", "chr_id": "1", "subjects_positive": "1", "chr_pos": "149906097", "disease": [ { "disease_id": "DOID:2531", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "malignant hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematological tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic malignancy", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic and lymphoid system tumor", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "blood cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic neoplasm", "id": "DOID:2531" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "name": "hematologic cancer", "id": "DOID:2531" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU01", "id": "A4FU01", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.1", "sequence_mut": "N", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 224, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs782132670.", "sequence_org": "R", "start_pos": 238, "alt_nt": "T", "chr_id": "1", "subjects_positive": "1", "chr_pos": "149905806", "disease": [ { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - 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"id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of 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"UniProtKB", "name": "Cisplatin resistance-associated protein" }, { "url": "https://www.uniprot.org/uniprot/A4FU01#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Inactive phosphatidylinositol 3-phosphatase 11" }, { "url": "https://www.uniprot.org/uniprot/A4FU01#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Myotubularin-related protein 11" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4FU01", "type": "synonym", "resource": "RefSeq", "name": "hCRA; cisplatin resistance associated; cisplatin resistance-associated protein; inactive phosphatidylinositol 3-phosphatase 11" }, { "url": "https://www.uniprot.org/uniprot/A4FU01#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "hCRA" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4FU01", "type": "synonym", "resource": "RefSeq", "name": "myotubularin-related protein 11 isoform a" } ] }