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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:

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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