2024-03-29 15:05:42, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001145862 2879 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. ACCESSION NM_001145862 VERSION NM_001145862.1 GI:224994250 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2879) AUTHORS Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H., Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S., Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A., Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H., Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T., Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M., Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C., Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A., Thorsteinsdottir,U. and Stefansson,K. TITLE Many sequence variants affecting diversity of adult human height JOURNAL Nat. Genet. 40 (5), 609-615 (2008) PUBMED 18391951 REFERENCE 2 (bases 1 to 2879) AUTHORS Wishart,M.J. and Dixon,J.E. TITLE PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease JOURNAL Trends Cell Biol. 12 (12), 579-585 (2002) PUBMED 12495846 REMARK Review article COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DB474756.2, AK298775.1, BC100819.2 and BC064372.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). ##Evidence-Data-START## Transcript exon combination :: AK298775.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-31 DB474756.2 5-35 32-506 AK298775.1 1-475 507-2415 BC100819.2 167-2075 2416-2879 BC064372.1 2377-2840 FEATURES Location/Qualifiers source 1..2879 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q12-q21" gene 1..2879 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /note="myotubularin related protein 11" /db_xref="GeneID:10903" /db_xref="HGNC:24307" exon 1..317 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" variation 178 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /replace="c" /replace="t" /db_xref="dbSNP:3738321" misc_feature 204..206 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /note="upstream in-frame stop codon" CDS 252..2381 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /note="isoform a is encoded by transcript variant 1; cisplatin resistance associated; myotubularin-related protein 11; hCRA; cisplatin resistance-associated protein" /codon_start=1 /product="myotubularin-related protein 11 isoform a" /protein_id="NP_001139334.1" /db_xref="GI:224994251" /db_xref="CCDS:CCDS53360.1" /db_xref="GeneID:10903" /db_xref="HGNC:24307" /translation="
MWWGGRGQSFNIAPQKEEPEMGSVQENRMPEPRSRQPSSCLASRCLPGEQILAWAPGVRKGLEPELSGTLICTNFRVTFQPCGWQWNQDTPLNSEYDFALVNIGRLEAVSGLSRVQLLRPGSLHKFIPEEILIHGRDFRLLRVGFEAGGLEPQAFQVTMAIVQARAQSNQAQQYSGITLSKAGQGSGSRKPPIPLMETAEDWETERKKQAARGWRVSTVNERFDVATSLPRYFWVPNRILDSEVRRAFGHFHQGRGPRLSWHHPGGSDLLRCGGFYTASDPNKEDIRAVELMLQAGHSDVVLVDTMDELPSLADVQLAHLRLRALCLPDSSVAEDKWLSALEGTRWLDYVRACLRKASDISVLVTSRVRSVILQERGDRDLNGLLSSLVQLLSAPEARTLFGFQSLVQREWVAAGHPFLTRLGGTGASEEAPVFLLFLDCVWQLLQQFPADFEFSEFFLLALHDSVRVPDTLTFLRNTPWERGKQSGQLNSYTQVYTPGYSQPPAGNSFNLQLSVWDWDLRYSNAQILQFQNPGYDPEHCPDSWLPRPQPSFMVPGPPSSVWLFSRGALTPLNQLCPWRDSPSLLAVSSRWLPRPAISSESLADQEWGLPSHWGACPLPPGLLLPGYLGPQIRLWRRCYLRGRPEVQMGLSAPTISGLQDELSHLQELLRKWTPRISPEDHSKKRDPHTILNPTEIAGILKGRAEGDLG
" misc_feature 918..>1166 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /note="Myotubularin-related; Region: Myotub-related; pfam06602" /db_xref="CDD:203483" misc_feature <1434..1520 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /note="Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr; Region: PTPc; cl00053" /db_xref="CDD:213076" misc_feature 2022..2300 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /note="Myotubularin-associated protein; Region: 3-PAP; pfam12578" /db_xref="CDD:153012" exon 318..393 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 394..515 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 516..576 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 577..719 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 720..798 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 799..934 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" STS 914..957 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /standard_name="ksks110" /db_xref="UniSTS:514133" exon 935..1022 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 1023..1111 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 1112..1236 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 1237..1303 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 1304..1374 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 1375..1541 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 1542..1715 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 1716..1898 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 1899..2192 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" exon 2193..2859 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /inference="alignment:Splign:1.39.8" variation 2412 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /replace="c" /replace="t" /db_xref="dbSNP:1057742" variation 2445 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /replace="c" /replace="t" /db_xref="dbSNP:1057743" variation 2792 /gene="MTMR11" /gene_synonym="CRA; RP11-212K13.1" /replace="a" /replace="g" /db_xref="dbSNP:1804775" ORIGIN
catctctcccgccctctccagagtcgactgaagtttccgaggagacttctcaggctgggctggacacacctttccaaggacccccaaactctgctccgtgcacgtcaaatgctcctttcccttgtgtccaaccccctacccctctccctaacacccctcttctcaacaagactcagcctctccccgaggtgggtgagcatccttgaggtttcccacccttaactgctgtgtccccggatggagccagagaaatgtggtgggggggccggggccagagtttcaacattgccccccagaaggaggagccagagatggggtctgtccaggaaaataggatgccggagcccaggagtcgtcagcctagcagttgcctggcctccagatgcctcccaggggagcagatcctagcatgggccccaggggtgaggaagggcctggaaccagaattgtctggaaccctgatctgtaccaactttagggtcaccttccagccctgtggatggcagtggaatcaggacactcccttgaacagtgaatacgattttgccctggtcaacattggacgattagaggctgtgagcggcttgtcccgagtccagctcctccgtccagggtccctgcataaatttatccctgaggagattctgattcatggccgagacttccggctgctcagagttggttttgaggctggaggcctagagcctcaggcttttcaggtgaccatggccattgtccaagccagagctcagagcaatcaagcccaacagtattcggggataaccctgagcaaggctggccagggttctggctccagaaaaccaccaattcctctcatggagacagcggaagactgggagactgagcggaagaagcaggcagccagaggctggagggtcagcacggtcaacgagaggttcgacgtagccaccagcctcccccgttacttctgggtccctaaccgaattctggacagtgaggtcaggagagcatttggccactttcatcagggccgtggaccgcgcttgtcctggcatcaccctgggggcagtgatcttctccgctgtggaggcttctatacagccagtgaccctaacaaggaggatatcagagcagtggagttgatgctccaggctgggcattcagatgttgtcctggtagacactatggatgagctgcccagccttgcagatgtccaacttgcccacctgaggctgagggccctctgcctgcctgattcatctgtagctgaggataaatggctttcagccctggaaggaacacgatggctggactatgtcagggcttgtcttcgaaaggccagtgacatttcagtattagtgacatccagggttcgttctgtaatacttcaagagcgcggtgatcgtgatctcaatggcctcctctcttcactcgtccagctgctttcagcccccgaagcccgaacactgtttggcttccaatcactagtacagcgagagtgggtggcagctggacatcccttcctgactcggcttgggggaactggggccagtgaagaggctccggtgtttctcctcttccttgattgtgtctggcagctcctccagcagtttccagctgattttgaattctctgagtttttccttcttgctcttcatgacagtgtcagggttcctgacacccttaccttcctgagaaataccccctgggagcgcggaaagcagagcggacagttaaactcctatacacaagtctacaccccaggatactcccagcctccagctgggaactcttttaacctgcagctgtctgtctgggactgggatttacgttatagcaatgcacagatactacaattccagaatcctggctatgacccagaacactgtccagattcctggctccctagaccacagccaagcttcatggttcctggaccccccagttctgtgtggctcttctctagaggagcattgacccccctgaatcagctctgtccttggcgggacagtccttccctgctggcagtctcttctcgttggctccctcgacctgctatctcctctgaaagcctggctgaccaggaatggggtctcccctcacattggggagcttgccctttacctccagggctgctgctgcctgggtatctgggaccccagatcaggctctggagacgctgctacctgaggggaaggcctgaggtccagatgggcctctcagctcccacaatctctggcctccaggatgagctatcccatcttcaggagttattacggaaatggacaccaagaatatctcctgaggatcactccaagaaaagagatccacataccattctcaatcccactgaaattgctggcattctcaaaggcagggcagagggggatctggggtagaggagggttctgtctaatcttttttttttttttttgtatctgcacttgcagcctcagctttcacacttcagcccttaagttcactaagaaggtctgagtttctgctgcagatagtggtgttaactgctccaactcttgtcttgcttagtttctacaaatatttttgcttcttgtcatttgaaggattaagaaacaaaaacaatccagaaattgatcggtttttttaggccaatcccatcccttctggataaccagatgttaaatcatgagatcagagatgctgttcatcagtcccaacaagatggcctagaaatcgcattctcacctcgccttgctgctgctttaattccaagttctatttcttcccttatagttttctatgggaatgaggcggatacaggaaacaccctatctcctctgtatttttgtagtggaatttctatttaaggggctcattaaagcatagtatttatacacaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10903 -> Molecular function: GO:0016791 [phosphatase activity] evidence: IEA
by
@meso_cacase at
DBCLS
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