Home |
Help |
Advanced search
2024-04-24 08:46:57, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_181873 2368 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens myotubularin related protein 11 (MTMR11), transcript
variant 2, mRNA.
ACCESSION NM_181873
VERSION NM_181873.3 GI:224994249
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 2368)
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 2368)
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
DA492093.1, AK097000.1, AK296094.1 and BC064372.1.
On Mar 14, 2009 this sequence version replaced gi:89111940.
Transcript Variant: This variant (2) differs in the 5' and 3' UTRs,
and contains alternate 5' and 3' coding regions, compared to
variant 1. The resulting isoform (b) has distinct N- and C-termini
and is shorter than isoform a.
##Evidence-Data-START##
Transcript exon combination :: AK097000.1 [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
1-159 DA492093.1 299-457
160-780 AK097000.1 137-757
781-853 AK296094.1 878-950
854-2132 AK097000.1 831-2109
2133-2368 BC064372.1 2605-2840
FEATURES Location/Qualifiers
source 1..2368
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q12-q21"
gene 1..2368
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/note="myotubularin related protein 11"
/db_xref="GeneID:10903"
/db_xref="HGNC:24307"
exon 1..220
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
misc_feature 189..191
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/note="upstream in-frame stop codon"
CDS 210..2132
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/note="isoform b is encoded by transcript variant 2;
cisplatin resistance associated; myotubularin-related
protein 11; hCRA; cisplatin resistance-associated protein"
/codon_start=1
/product="myotubularin-related protein 11 isoform b"
/protein_id="NP_870988.2"
/db_xref="GI:89111941"
/db_xref="CCDS:CCDS942.1"
/db_xref="GeneID:10903"
/db_xref="HGNC:24307"
/translation="
MPPRVTFQPCGWQWNQDTPLNSEYDFALVNIGRLEAVSGLSRVQLLRPGSLHKFIPEEILIHGRDFRLLRVGFEAGGLEPQAFQVTMAIVQARAQSNQAQQYSGITLSKAGQGSGSRKPPIPLMETAEDWETERKKQAARGWRVSTVNERFDVATSLPRYFWVPNRILDSEVRRAFGHFHQGRGPRLSWHHPGGSDLLRCGGFYTASDPNKEDIRAVELMLQAGHSDVVLVDTMDELPSLADVQLAHLRLRALCLPDSSVAEDKWLSALEGTRWLDYVRACLRKASDISVLVTSRVRSVILQERGDRDLNGLLSSLVQLLSAPEARTLFGFQSLVQREWVAAGHPFLTRLGGTGASEEAPVFLLFLDCVWQLLQQFPADFEFSEFFLLALHDSVRVPDTLTFLRNTPWERGKQSGQLNSYTQVYTPGYSQPPAGNSFNLQLSVWDWDLRYSNAQILQFQNPGYDPEHCPDSWLPRPQPSFMVPGPPSSVWLFSRGALTPLNQLCPWRDSPSLLAVSSRWLPRPAISSESLADQEWGLPSHWGACPLPPGLLLPGYLGPQIRLWRRCYLRGRPEVQMGLSAPTISGLQDELSHLQELLRKWTPRISPEDHSKKRDPHTILNPTEIAGILKGQSHPFWITRC
"
misc_feature 660..>908
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/note="Myotubularin-related; Region: Myotub-related;
pfam06602"
/db_xref="CDD:203483"
misc_feature <1176..1262
/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 1764..2042
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/note="Myotubularin-associated protein; Region: 3-PAP;
pfam12578"
/db_xref="CDD:153012"
exon 221..257
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 258..318
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 319..461
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 462..540
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 541..676
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
STS 656..699
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/standard_name="ksks110"
/db_xref="UniSTS:514133"
exon 677..764
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 765..853
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 854..978
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 979..1045
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 1046..1116
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 1117..1283
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 1284..1457
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 1458..1640
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 1641..1934
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 1935..2097
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
exon 2098..2348
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/inference="alignment:Splign:1.39.8"
variation 2281
/gene="MTMR11"
/gene_synonym="CRA; RP11-212K13.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1804775"
ORIGIN
ccctgttaggtctggagctccccacagacactgatctcagtttcccccgagagtgtgagtgtaggcctctacaggcagctgcctctggggagttggggagcctaggggttaactctagacccccctcaaccctctggaccaaagtctgtccaggaaaataggatgccggagcccaggagtcgtcagcctagcagttgcctggcctccagatgcctcccagggtcaccttccagccctgtggatggcagtggaatcaggacactcccttgaacagtgaatacgattttgccctggtcaacattggacgattagaggctgtgagcggcttgtcccgagtccagctcctccgtccagggtccctgcataaatttatccctgaggagattctgattcatggccgagacttccggctgctcagagttggttttgaggctggaggcctagagcctcaggcttttcaggtgaccatggccattgtccaagccagagctcagagcaatcaagcccaacagtattcggggataaccctgagcaaggctggccagggttctggctccagaaaaccaccaattcctctcatggagacagcggaagactgggagactgagcggaagaagcaggcagccagaggctggagggtcagcacggtcaacgagaggttcgacgtagccaccagcctcccccgttacttctgggtccctaaccgaattctggacagtgaggtcaggagagcatttggccactttcatcagggccgtggaccgcgcttgtcctggcatcaccctgggggcagtgatcttctccgctgtggaggcttctatacagccagtgaccctaacaaggaggatatcagagcagtggagttgatgctccaggctgggcattcagatgttgtcctggtagacactatggatgagctgcccagccttgcagatgtccaacttgcccacctgaggctgagggccctctgcctgcctgattcatctgtagctgaggataaatggctttcagccctggaaggaacacgatggctggactatgtcagggcttgtcttcgaaaggccagtgacatttcagtattagtgacatccagggttcgttctgtaatacttcaagagcgcggtgatcgtgatctcaatggcctcctctcttcactcgtccagctgctttcagcccccgaagcccgaacactgtttggcttccaatcactagtacagcgagagtgggtggcagctggacatcccttcctgactcggcttgggggaactggggccagtgaagaggctccggtgtttctcctcttccttgattgtgtctggcagctcctccagcagtttccagctgattttgaattctctgagtttttccttcttgctcttcatgacagtgtcagggttcctgacacccttaccttcctgagaaataccccctgggagcgcggaaagcagagcggacagttaaactcctatacacaagtctacaccccaggatactcccagcctccagctgggaactcttttaacctgcagctgtctgtctgggactgggatttacgttatagcaatgcacagatactacaattccagaatcctggctatgacccagaacactgtccagattcctggctccctagaccacagccaagcttcatggttcctggaccccccagttctgtgtggctcttctctagaggagcattgacccccctgaatcagctctgtccttggcgggacagtccttccctgctggcagtctcttctcgttggctccctcgacctgctatctcctctgaaagcctggctgaccaggaatggggtctcccctcacattggggagcttgccctttacctccagggctgctgctgcctgggtatctgggaccccagatcaggctctggagacgctgctacctgaggggaaggcctgaggtccagatgggcctctcagctcccacaatctctggcctccaggatgagctatcccatcttcaggagttattacggaaatggacaccaagaatatctcctgaggatcactccaagaaaagagatccacataccattctcaatcccactgaaattgctggcattctcaaaggccaatcccatcccttctggataaccagatgttaaatcatgagatcagagatgctgttcatcagtcccaacaagatggcctagaaatcgcattctcacctcgccttgctgctgctttaattccaagttctatttcttcccttatagttttctatgggaatgaggcggatacaggaaacaccctatctcctctgtatttttgtagtggaatttctatttaaggggctcattaaagcatagtatttatacacaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10903 -> Molecular function: GO:0016791 [phosphatase activity] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.