GGRNA | NM_006562.4

LOCUS       NM_006562               1287 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens ladybird homeobox 1 (LBX1), mRNA.
ACCESSION   NM_006562
VERSION     NM_006562.4  GI:63054871
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 1287)
  AUTHORS   Gao,W., Peng,Y., Liang,G., Liang,A., Ye,W., Zhang,L., Sharma,S.,
            Su,P. and Huang,D.
  TITLE     Association between common variants near LBX1 and adolescent
            idiopathic scoliosis replicated in the Chinese Han population
  JOURNAL   PLoS ONE 8 (1), E53234 (2013)
   PUBMED   23308168
  REMARK    GeneRIF: This study shows that the genetic variants near the LBX1
            gene are associated with adolescent idiopathic scoliosis
            susceptibility in Chinese Han population.
REFERENCE   2  (bases 1 to 1287)
  AUTHORS   Fan,Y.H., Song,Y.Q., Chan,D., Takahashi,Y., Ikegawa,S.,
            Matsumoto,M., Kou,I., Cheah,K.S., Sham,P., Cheung,K.M. and Luk,K.D.
  TITLE     SNP rs11190870 near LBX1 is associated with adolescent idiopathic
            scoliosis in southern Chinese
  JOURNAL   J. Hum. Genet. 57 (4), 244-246 (2012)
   PUBMED   22301463
  REMARK    GeneRIF: Single nucleotide polymorphism near LBX1 is significantly
            associated with adolescent idiopathic scoliosis in southern
            Chinese.
REFERENCE   3  (bases 1 to 1287)
  AUTHORS   Takahashi,Y., Kou,I., Takahashi,A., Johnson,T.A., Kono,K.,
            Kawakami,N., Uno,K., Ito,M., Minami,S., Yanagida,H., Taneichi,H.,
            Tsuji,T., Suzuki,T., Sudo,H., Kotani,T., Watanabe,K., Chiba,K.,
            Hosono,N., Kamatani,N., Tsunoda,T., Toyama,Y., Kubo,M.,
            Matsumoto,M. and Ikegawa,S.
  TITLE     A genome-wide association study identifies common variants near
            LBX1 associated with adolescent idiopathic scoliosis
  JOURNAL   Nat. Genet. 43 (12), 1237-1240 (2011)
   PUBMED   22019779
  REMARK    GeneRIF: A genome-wide association study identifies common variants
            near LBX1 associated with adolescent idiopathic scoliosis
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1287)
  AUTHORS   Yu,M., Smolen,G.A., Zhang,J., Wittner,B., Schott,B.J., Brachtel,E.,
            Ramaswamy,S., Maheswaran,S. and Haber,D.A.
  TITLE     A developmentally regulated inducer of EMT, LBX1, contributes to
            breast cancer progression
  JOURNAL   Genes Dev. 23 (15), 1737-1742 (2009)
   PUBMED   19651985
  REMARK    GeneRIF: Ladybird homeobox 1 (LBX1), a developmentally regulated
            homeobox gene, directs expression of the known EMT inducers ZEB1,
            ZEB2, Snail1, and transforming growth factor beta2 (TGFB2).
REFERENCE   5  (bases 1 to 1287)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   6  (bases 1 to 1287)
  AUTHORS   de Mollerat,X.J., Gurrieri,F., Morgan,C.T., Sangiorgi,E.,
            Everman,D.B., Gaspari,P., Amiel,J., Bamshad,M.J., Lyle,R.,
            Blouin,J.L., Allanson,J.E., Le Marec,B., Wilson,M., Braverman,N.E.,
            Radhakrishna,U., Delozier-Blanchet,C., Abbott,A., Elghouzzi,V.,
            Antonarakis,S., Stevenson,R.E., Munnich,A., Neri,G. and
            Schwartz,C.E.
  TITLE     A genomic rearrangement resulting in a tandem duplication is
            associated with split hand-split foot malformation 3 (SHFM3) at
            10q24
  JOURNAL   Hum. Mol. Genet. 12 (16), 1959-1971 (2003)
   PUBMED   12913067
REFERENCE   7  (bases 1 to 1287)
  AUTHORS   Kozmik,Z., Holland,L.Z., Schubert,M., Lacalli,T.C., Kreslova,J.,
            Vlcek,C. and Holland,N.D.
  TITLE     Characterization of Amphioxus AmphiVent, an evolutionarily
            conserved marker for chordate ventral mesoderm
  JOURNAL   Genesis 29 (4), 172-179 (2001)
   PUBMED   11309850
REFERENCE   8  (bases 1 to 1287)
  AUTHORS   Jagla,K., Dolle,P., Mattei,M.G., Jagla,T., Schuhbaur,B.,
            Dretzen,G., Bellard,F. and Bellard,M.
  TITLE     Mouse Lbx1 and human LBX1 define a novel mammalian homeobox gene
            family related to the Drosophila lady bird genes
  JOURNAL   Mech. Dev. 53 (3), 345-356 (1995)
   PUBMED   8645601
REFERENCE   9  (bases 1 to 1287)
  AUTHORS   Moretti,P., Simmons,P., Thomas,P., Haylock,D., Rathjen,P., Vadas,M.
            and D'Andrea,R.
  TITLE     Identification of homeobox genes expressed in human haemopoietic
            progenitor cells
  JOURNAL   Gene 144 (2), 213-219 (1994)
   PUBMED   7518789
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL135794.19 and BC069156.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 5, 2005 this sequence version replaced gi:11184237.
            
            Summary: This gene and the orthologous mouse gene were found by
            their homology to the Drosophila lady bird early and late homeobox
            genes. In the mouse, this gene is a key regulator of muscle
            precursor cell migration and is required for the acquisition of
            dorsal identities of forelimb muscles. [provided by RefSeq, Jul
            2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC069156.1, BC136321.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025099 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-409               AL135794.19        83191-83599         c
            410-1287            BC069156.1         411-1288
FEATURES             Location/Qualifiers
     source          1..1287
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24"
     gene            1..1287
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /note="ladybird homeobox 1"
                     /db_xref="GeneID:10660"
                     /db_xref="HGNC:16960"
                     /db_xref="MIM:604255"
     exon            1..470
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /inference="alignment:Splign:1.39.8"
     STS             29..1176
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /db_xref="UniSTS:491162"
     STS             128..1038
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /db_xref="UniSTS:482114"
     CDS             146..991
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /note="lady bird-like homeobox; transcription factor
                     similar to D. melanogaster homeodomain protein lady bird
                     late; ladybird homeobox protein homolog 1; ladybird
                     homeobox homolog 1"
                     /codon_start=1
                     /product="transcription factor LBX1"
                     /protein_id="NP_006553.2"
                     /db_xref="GI:63054872"
                     /db_xref="CCDS:CCDS31270.1"
                     /db_xref="GeneID:10660"
                     /db_xref="HGNC:16960"
                     /db_xref="MIM:604255"
                     /translation="

MTSKEDGKAAPGEERRRSPLDHLPPPANSNKPLTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLPLAGRALLSQTSPLCALEELASKTFKGLEVSVLQAAEGRDGMTIFGQRQTPKKRRKSRTAFTNHQIYELEKRFLYQKYLSPADRDQIAQQLGLTNAQVITWFQNRRAKLKRDLEEMKADVESAKKLGPSGQMDIVALAELEQNSEATAGGGGGCGRAKSRPGSPVLPPGAPKAPGAGALQLSPASPLTDQPASSQDCSEDEEDEEIDVDD

"
     misc_feature    521..691
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(521..535,539..541,590..592,608..610,647..649,
                     653..658,665..670,674..682,686..691)
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(527..529,536..538,656..658,665..670,677..679)
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       373
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:941909"
     exon            471..1285
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /inference="alignment:Splign:1.39.8"
     polyA_site      1285
                     /gene="LBX1"
                     /gene_synonym="homeobox; HPX-6; HPX6; LBX1H"
                     /experiment="experimental evidence, no additional details
                     recorded"
ORIGIN

ggccccgcgcccggcccgcgccctgcccagtgcggcctcctttccacccgccgctgcctgcccgcgccgtccggcgcccgagctgcccgcgggctgggtccccgcggcccgagccgccccggccgggaccccgaacaaggccgagatgacttccaaggaggacggcaaggcggcgccgggggaggagcggcggcgcagcccgctggaccacctgcctccgcctgccaactccaacaagccactgacgccgttcagcatcgaggacatcctcaacaagccgtctgtgcggagaagttactcgctgtgcggggcggcgcacctgctggccgccgcggacaagcacgcgcagggcggcttgcccctggcgggccgcgcgctgctctcgcagacctcgccgctgtgcgcgctggaggagctcgccagcaagacgtttaaggggctggaggtcagcgttctgcaggcagccgaaggccgcgacggtatgaccatctttgggcagcggcagacccctaagaagcggcgaaagtcgcgcacggccttcaccaaccaccagatctatgaattggaaaagcgctttctataccagaagtacctgtcccccgccgatcgcgaccaaatcgcgcagcagctgggcctcaccaacgcgcaagtcatcacctggttccagaatcggcgcgctaagctcaagcgggacctggaggagatgaaggccgacgtagagtccgccaagaaactgggccccagcgggcagatggacatcgtggcgctggccgaactcgagcagaactcggaggccacagccggcggtggcggcggctgcggcagggccaagtcgaggcccggctctccggtcctccccccaggcgccccgaaggccccgggcgctggcgccctgcagctctcgcctgcctctccgctcacggaccagccggccagcagccaggactgctcggaggacgaggaagacgaagagatcgacgtggacgattgagcggcgccccgggtcttccgccgccctgggctcctagcgctcgaaagcccaacgcctcccggaccggaccgccgaggggagctgggacctcctctgccaactcccgcctcctcccctgtccccggccccggactcggctcctggcagccgcctcttccctctcgaagcaataaacccaggctggccggccgggccggccgccaccagcggcctccgccgccccggaagccctcgccgtgcaattctgtatggcttctatataaatatttaaacctatatagcgggttcttcccaaa

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