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2019-03-25 15:14:44, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_006382               2780 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens CMT1A duplicated region transcript 1 (CDRT1), mRNA.
ACCESSION   NM_006382 XM_940241
VERSION     NM_006382.3  GI:157694486
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 2780)
  AUTHORS   Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and
            Harper,J.W.
  TITLE     Systematic analysis and nomenclature of mammalian F-box proteins
  JOURNAL   Genes Dev. 18 (21), 2573-2580 (2004)
   PUBMED   15520277
REFERENCE   2  (bases 1 to 2780)
  AUTHORS   Inoue,K., Dewar,K., Katsanis,N., Reiter,L.T., Lander,E.S.,
            Devon,K.L., Wyman,D.W., Lupski,J.R. and Birren,B.
  TITLE     The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals
            unique genome architectural features and provides insights into the
            recent evolution of new genes
  JOURNAL   Genome Res. 11 (6), 1018-1033 (2001)
   PUBMED   11381029
REFERENCE   3  (bases 1 to 2780)
  AUTHORS   Kennerson,M.L., Nassif,N.T. and Nicholson,G.A.
  TITLE     Genomic structure and physical mapping of C17orf1: a gene
            associated with the proximal element of the CMT1A-REP binary repeat
  JOURNAL   Genomics 53 (1), 110-112 (1998)
   PUBMED   9787083
REFERENCE   4  (bases 1 to 2780)
  AUTHORS   Kennerson,M.L., Nassif,N.T., Dawkins,J.L., DeKroon,R.M., Yang,J.G.
            and Nicholson,G.A.
  TITLE     The Charcot-Marie-Tooth binary repeat contains a gene transcribed
            from the opposite strand of a partially duplicated region of the
            COX10 gene
  JOURNAL   Genomics 46 (1), 61-69 (1997)
   PUBMED   9403059
REFERENCE   5  (bases 1 to 2780)
  AUTHORS   Kennerson,M.L., Gordon,M.J., Blair,I.P. and Nicholson,G.A.
  TITLE     Single test for two hereditary neuropathies, CMT1A and HNPP
  JOURNAL   Clin. Chem. 41 (10), 1534-1535 (1995)
   PUBMED   7586531
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AK057407.1,
            AC005324.1, AB209899.1, U65652.1, AC005838.2 and BU738380.1.
            On Sep 27, 2007 this sequence version replaced gi:142370828.
            
            Summary: Members of the F-box protein family, such as FBXW10, are
            characterized by an approximately 40-amino acid F-box motif. SCF
            complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM
            603034), and F-box proteins, act as protein-ubiquitin ligases.
            F-box proteins interact with SKP1 through the F box, and they
            interact with ubiquitination targets through other protein
            interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied
            by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed/partial sample support ERS025081, ERS025083
                              [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-359               AK057407.1         1-359
            360-360             AC005324.1         145680-145680
            361-925             AK057407.1         361-925
            926-2039            AB209899.1         1708-2821
            2040-2118           AK057407.1         1804-1882
            2119-2119           AC005324.1         171609-171609
            2120-2163           AK057407.1         1884-1927
            2164-2330           U65652.1           693-859
            2331-2331           AC005838.2         2397-2397
            2332-2629           BU738380.1         152-449             c
            2630-2630           AC005838.2         2696-2696
            2631-2780           BU738380.1         1-150               c
FEATURES             Location/Qualifiers
     source          1..2780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
     gene            1..2780
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /note="CMT1A duplicated region transcript 1"
                     /db_xref="GeneID:374286"
                     /db_xref="HGNC:14379"
                     /db_xref="MIM:604596"
     exon            1..697
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    172..174
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /note="upstream in-frame stop codon"
     CDS             193..2451
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /note="Charcot-Marie-Tooth duplicated region transcript 1;
                     F-box and WD-40 domain protein 10 pseudogene 1; F-box and
                     WD repeat domain containing 10 pseudogene 1"
                     /codon_start=1
                     /product="CMT1A duplicated region transcript 1 protein"
                     /protein_id="NP_006373.2"
                     /db_xref="GI:157694487"
                     /db_xref="CCDS:CCDS45619.1"
                     /db_xref="GeneID:374286"
                     /db_xref="HGNC:14379"
                     /db_xref="MIM:604596"
                     /translation="
MENLESRLKNAPYFRCEKGTDSIPLCRKCETRVLAWKIFSTKEWFCRINDISQRRFLVGILKQLNSLYLLHYFQNILQTTQGKDFIYNRSRIDLSKKEGKVVKSSLNQMLDKTVEQKMKEILYWFANSTQWTKANYTLLLLQMCNPKLLLTAANVIRVLFLREENNISGLNQDITDVCFSPEKDHSSKSATSQVYWTAKTQHTSLPLSKAPENEHFLGAASNPEEPWRNSLRCISEMNRLFSGKADITKPGYDPCNLLVDLDDIRDLSSGFSKYRDFIRYLPIHLSKYILRMLDRHTLNKCASVSQHWAAMAQQVKMDLSAHGFIQNQITFLQGSYTRGIDPNYANKVSIPVPKMVDDGKSMRVKHPKWKLRTKNEYNLWTAYQNEETQQVLMEERNVFCGTYNVRILSDTWDQNRVIHYSGGDLIAVSSNRKIHLLDIIQVKAIPVEFRGHAGSVRALFLCEEENFLLSGSYDLSIRYWDLKSGVCTRIFGGHQGTITCMDLCKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYIVSSCERGLVKVWHIAMAQLVKTLSGHEGAVKCLFFDQWHLLSGSTDGLVMAWSMVGKYERCLMAFKHPKEVLDVSLLFLRVISACADGKIRIYNFFNGNCMKVIKANGRGDPVLSFFIQGNRISVCHISTFAKRINVGWNGIEPSATAQGGNASLTECAHVRLHIAGHLPASRLPVAAVQPMTGGMAPTTAPTHVLAMLILFSGV
"
     misc_feature    697..810
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95170.3);
                     Region: WD 1"
     misc_feature    1417..1533
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95170.3);
                     Region: WD 2"
     misc_feature    1444..2151
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /note="WD40 domain, found in a number of eukaryotic
                     proteins that cover a wide variety of functions including
                     adaptor/regulatory modules in signal transduction,
                     pre-mRNA processing and cytoskeleton assembly; typically
                     contains a GH dipeptide 11-24 residues from...; Region:
                     WD40; cd00200"
                     /db_xref="CDD:29257"
     misc_feature    <1465..2244
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /note="FOG: WD40 repeat [General function prediction
                     only]; Region: COG2319"
                     /db_xref="CDD:32473"
     misc_feature    order(1471..1473,1483..1485,1501..1506,1543..1548,
                     1600..1602,1612..1614,1630..1635,1669..1674,1717..1719,
                     1732..1734,1750..1755,1789..1791,1834..1836,1849..1851,
                     1867..1872,1906..1911,1957..1959,1969..1971,1987..1992,
                     2029..2034,2077..2079,2092..2094,2110..2115,2149..2151)
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /note="structural tetrad; other site"
                     /db_xref="CDD:29257"
     misc_feature    1543..1662
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95170.3);
                     Region: WD 3"
     misc_feature    1669..1788
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95170.3);
                     Region: WD 4"
     misc_feature    1792..1899
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95170.3);
                     Region: WD 5"
     misc_feature    1906..2019
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95170.3);
                     Region: WD 6"
     misc_feature    2023..2148
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (O95170.3);
                     Region: WD 7"
     exon            698..862
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     exon            863..1063
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     exon            1064..1191
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     exon            1192..1314
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     exon            1315..1424
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     exon            1425..1625
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     exon            1626..1747
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     STS             1661..2526
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /db_xref="UniSTS:494637"
     exon            1748..1896
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     exon            1897..2039
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     exon            2040..2198
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     exon            2199..2763
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /inference="alignment:Splign:1.39.8"
     variation       2331
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151442"
     variation       2630
                     /gene="CDRT1"
                     /gene_synonym="C170RF1; C17ORF1; C17ORF1A; FBXW10B;
                     FBXW10P1; HREP; SM25H2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151443"
ORIGIN      
agacttctgctggcagttactgagagagataggctttccatccatggcagccatttacttttgctctgggagacgtttgtaatagaaaaggcacaactggggtatttattcatttccccccgttcctctagtgtttggtggcgttgccgttgcaagtgcgcagggctaaaatgaactggttatcttaggatcatggaaaacctggaatcaaggctcaagaatgccccctattttcgttgtgagaagggaaccgattccatccctctatgccggaagtgtgagacgcgtgtcttagcctggaagatcttctctaccaaagagtggttctgcaggatcaatgacatatcacagaggaggtttctagttggcattctgaagcagttaaatagcttatatttgttacactatttccaaaatatccttcagaccacacagggaaaggatttcatctataacaggtcccggatcgacctcagcaagaaagaggggaaagttgtgaagtcctccttgaaccaaatgttggataaaacagtagaacagaagatgaaagagatcttgtattggtttgcgaacagcacccagtggaccaaggcgaattatactctcttactgctgcagatgtgcaaccccaaattactgctcactgctgccaatgtgatcagagtcctgtttctgagagaggagaacaatatctcagggctcaatcaagacatcacagatgtgtgtttttcccctgagaaagaccacagctccaagtctgcgacctcacaagtctattggacagccaaaactcagcacacatcccttcctttgtccaaagccccagaaaatgaacacttccttggggcagcatctaaccctgaggaaccatggaggaattcactccggtgtatatccgaaatgaataggctgttttctggaaaagcagacataaccaagccagggtacgatccctgcaatctattggttgacctggatgacatcagagacctgtcttctgggttcagcaaataccgagacttcatccgttacctgcccatccacctctccaagtacattctaagaatgctggatagacacaccctgaacaagtgcgcctctgtgagccagcactgggccgccatggctcaacaggtcaagatggacttgtcagcgcacggcttcattcagaaccagattaccttcttgcaggggtcctatacaagaggaattgatcctaattatgccaataaggtttctatcccagttcctaaaatggtagatgacgggaagagcatgcgtgtgaaacatccgaagtggaagttgagaacgaagaatgagtacaacctgtggactgcataccagaacgaggaaacgcagcaggtcctgatggaggagagaaatgttttctgtgggacctacaatgttcgcattctctctgacacgtgggatcaaaaccgagtcatccactattccgggggagatctgatagctgtgtcatctaatcgaaagatccatcttctggacatcatacaagtgaaagcgatacccgttgaattccgaggccatgctgggagtgtccgggccctcttcctgtgtgaggaggaaaactttctcctaagcgggagctatgacctaagtatcagatactgggatctgaaaagtggggtttgcacacgaatcttcggtggtcaccaggggactatcacttgcatggacttgtgtaagaacaggctcgtatctggaggaagagattgccaggtaaaagtatgggatgtagacacagggaagtgcctgaagacgtttagacacaaagaccccatcttggccaccaggatcaatgatacctacattgtgagcagctgtgagcgagggctggtgaaagtgtggcacattgccatggcccagttggtaaagactctcagtggccacgagggagctgtgaaatgcctgttctttgaccagtggcatctcctctcaggaagcactgatggcctggtcatggcctggagcatggtggggaagtacgagcgctgcctgatggccttcaagcatcccaaagaggtgctcgacgtgtcccttctcttcctccgggtcatcagcgcctgtgcagatggcaagatccgaatttacaatttcttcaatgggaactgtatgaaggtgataaaagccaatggcagaggcgatcctgtgctgtccttctttattcagggcaacagaatttcagtctgccacatcagcacatttgctaaaagaattaacgtgggatggaatggaatcgaaccaagtgctacagctcagggaggaaatgcctccttgaccgagtgtgctcatgtgagactccacatcgcaggacacttaccagcatcgaggctgcccgtggccgctgtccagcccatgacaggcgggatggccccaaccacagctccgacccatgtgttggcaatgctgatccttttcagtggtgtgtagcagcaggtatacaggaaaatgttgaagagccccagggctcctgtgagtggattcacccccaaggtcagaatggcaactcctggaacagcacaacaagtggcaaaggacacagctagcaacgggctggaaaaaggcagagaacgtggagtgatcatctccaactcaactcaatcacactgcctaaaatcggcactgacaaagtacaaataatccacctatccagtagaggcagcactgatctggctgattcctggatatggggaatcctctttatgaaacaaacttacaataagaaagaatatgtttgtgggaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:374286 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
            GeneID:374286 -> Biological process: GO:0008150 [biological_process] evidence: ND
            GeneID:374286 -> Cellular component: GO:0005575 [cellular_component] evidence: ND

by @meso_cacase at DBCLS
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