GGRNA | NM_001040002.1

LOCUS       NM_001040002            2184 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 3,
            mRNA.
ACCESSION   NM_001040002
VERSION     NM_001040002.1  GI:91208414
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 2184)
  AUTHORS   Mohamed,J.Y., Faqeih,E., Alsiddiky,A., Alshammari,M.J.,
            Ibrahim,N.A. and Alkuraya,F.S.
  TITLE     Mutations in MEOX1, encoding mesenchyme homeobox 1, cause
            Klippel-Feil anomaly
  JOURNAL   Am. J. Hum. Genet. 92 (1), 157-161 (2013)
   PUBMED   23290072
  REMARK    GeneRIF: We describe a multiplex consanguineous family in which
            isolated KFS maps to a single 17q21.31 locus that harbors a
            homozygous frameshift deletion in MEOX1; this deletion results in
            complete instability of the transcript
REFERENCE   2  (bases 1 to 2184)
  AUTHORS   Thiaville,M.M., Stoeck,A., Chen,L., Wu,R.C., Magnani,L.,
            Oidtman,J., Shih,Ie.M., Lupien,M. and Wang,T.L.
  TITLE     Identification of PBX1 target genes in cancer cells by global
            mapping of PBX1 binding sites
  JOURNAL   PLoS ONE 7 (5), E36054 (2012)
   PUBMED   22567123
  REMARK    GeneRIF: The results demonstrate that MEOX1 is a critical target
            gene and cofactor of PBX1 in ovarian cancers.
REFERENCE   3  (bases 1 to 2184)
  AUTHORS   Vatanavicharn,N., Graham,J.M. Jr., Curry,C.J., Pepkowitz,S.,
            Lachman,R.S., Rimoin,D.L. and Wilcox,W.R.
  TITLE     Diaphanospondylodysostosis: six new cases and exclusion of the
            candidate genes, PAX1 and MEOX1
  JOURNAL   Am. J. Med. Genet. A 143A (19), 2292-2302 (2007)
   PUBMED   17764081
  REMARK    GeneRIF: No mutations were identified in the PAX1 and MEOX1 exons
            or flanking intronic sequences, excluding them as likely causative
            genes for diaphanospondylodysostosis
REFERENCE   4  (bases 1 to 2184)
  AUTHORS   Wissmuller,S., Kosian,T., Wolf,M., Finzsch,M. and Wegner,M.
  TITLE     The high-mobility-group domain of Sox proteins interacts with
            DNA-binding domains of many transcription factors
  JOURNAL   Nucleic Acids Res. 34 (6), 1735-1744 (2006)
   PUBMED   16582099
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2184)
  AUTHORS   Gianakopoulos,P.J. and Skerjanc,I.S.
  TITLE     Hedgehog signaling induces cardiomyogenesis in P19 cells
  JOURNAL   J. Biol. Chem. 280 (22), 21022-21028 (2005)
   PUBMED   15793308
REFERENCE   6  (bases 1 to 2184)
  AUTHORS   Petropoulos,H., Gianakopoulos,P.J., Ridgeway,A.G. and Skerjanc,I.S.
  TITLE     Disruption of Meox or Gli activity ablates skeletal myogenesis in
            P19 cells
  JOURNAL   J. Biol. Chem. 279 (23), 23874-23881 (2004)
   PUBMED   15039437
REFERENCE   7  (bases 1 to 2184)
  AUTHORS   Stamataki,D., Kastrinaki,M., Mankoo,B.S., Pachnis,V. and
            Karagogeos,D.
  TITLE     Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3
            transcription factors
  JOURNAL   FEBS Lett. 499 (3), 274-278 (2001)
   PUBMED   11423130
REFERENCE   8  (bases 1 to 2184)
  AUTHORS   Stelnicki,E.J., Komuves,L.G., Holmes,D., Clavin,W., Harrison,M.R.,
            Adzick,N.S. and Largman,C.
  TITLE     The human homeobox genes MSX-1, MSX-2, and MOX-1 are differentially
            expressed in the dermis and epidermis in fetal and adult skin
  JOURNAL   Differentiation 62 (1), 33-41 (1997)
   PUBMED   9373945
REFERENCE   9  (bases 1 to 2184)
  AUTHORS   Jones,K.A., Black,D.M., Brown,M.A., Griffiths,B.L., Nicolai,H.M.,
            Chambers,J.A., Bonjardim,M., Xu,C.F., Boyd,M., McFarlane,R. et al.
  TITLE     The detailed characterisation of a 400 kb cosmid walk in the BRCA1
            region: identification and localisation of 10 genes including a
            dual-specificity phosphatase
  JOURNAL   Hum. Mol. Genet. 3 (11), 1927-1934 (1994)
   PUBMED   7874108
REFERENCE   10 (bases 1 to 2184)
  AUTHORS   Futreal,P.A., Cochran,C., Rosenthal,J., Miki,Y., Swenson,J.,
            Hobbs,M., Bennett,L.M., Haugen-Strano,A., Marks,J., Barrett,J.C. et
            al.
  TITLE     Isolation of a diverged homeobox gene, MOX1, from the BRCA1 region
            on 17q21 by solution hybrid capture
  JOURNAL   Hum. Mol. Genet. 3 (8), 1359-1364 (1994)
   PUBMED   7987315
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE898972.1, AW410297.1,
            U10492.1, BX284090.1, BQ003431.1 and BQ028272.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of a subfamily of
            non-clustered, diverged, antennapedia-like homeobox-containing
            genes. The encoded protein may play a role in the molecular
            signaling network regulating somite development. Alternatively
            spliced transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding region (compared to variant 1), resulting in a protein that
            maintains the reading frame but is shorter at the N- terminus,
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AW410297.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025083 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 BE898972.1         1-4
            5-533               AW410297.1         23-551
            534-1304            U10492.1           680-1450
            1305-1547           BX284090.1         262-504
            1548-2061           BQ003431.1         113-626             c
            2062-2184           BQ028272.1         1-123               c
FEATURES             Location/Qualifiers
     source          1..2184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21"
     gene            1..2184
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /note="mesenchyme homeobox 1"
                     /db_xref="GeneID:4222"
                     /db_xref="HGNC:7013"
                     /db_xref="MIM:600147"
     exon            1..24
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /inference="alignment:Splign:1.39.8"
     exon            25..352
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /inference="alignment:Splign:1.39.8"
     STS             157..350
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /standard_name="GDB:438132"
                     /db_xref="UniSTS:157271"
     CDS             229..648
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     homeobox protein MOX-1"
                     /codon_start=1
                     /product="homeobox protein MOX-1 isoform 3"
                     /protein_id="NP_001035091.1"
                     /db_xref="GI:91208415"
                     /db_xref="CCDS:CCDS42343.1"
                     /db_xref="GeneID:4222"
                     /db_xref="HGNC:7013"
                     /db_xref="MIM:600147"
                     /translation="

MGTSSLGLVDTTGGPGDDYGVLGSTANETEKKSSRRRKESSDNQENRGKPEGSSKARKERTAFTKEQLRELEAEFAHHNYLTRLRRYEIAVNLDLSERQVKVWFQNRRMKWKRVKGGQPISPNGQDPEDGDSTASPSSE

"
     misc_feature    397..573
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /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(397..411,415..417,466..468,484..486,523..525,
                     529..534,541..546,550..558,562..567)
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(403..405,412..414,532..534,541..546,553..555)
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     exon            353..525
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /inference="alignment:Splign:1.39.8"
     STS             354..521
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /standard_name="GDB:438137"
                     /db_xref="UniSTS:157272"
     exon            526..2169
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /inference="alignment:Splign:1.39.8"
     STS             619..832
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /standard_name="SGC35253"
                     /db_xref="UniSTS:43593"
     variation       1684
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1042080"
     variation       1694
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1042082"
     variation       1696
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1042084"
     STS             1697..1940
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /standard_name="GDB:438128"
                     /db_xref="UniSTS:157269"
     variation       1863
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11422"
     polyA_signal    2148..2153
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
     polyA_site      2170
                     /gene="MEOX1"
                     /gene_synonym="KFS2; MOX1"
ORIGIN

ccaggacgaactcctcgtcagctgaaaccagacttcctggcgacagcgacggcagcgtaccctgacttctcagcctcctgcctggcagccaccccacacagcctgccccaggaggagcacatcttcactgagcagcaccccgctttcccacagtcccccaactggcacttccctgtctcagacgcccggcgcaggcccaactcaggcccggcagggggttccaaggaaatggggaccagcagcctgggcctggtggacaccacaggaggcccaggcgatgactacggggtgcttgggagcactgccaatgagacagagaagaaatcatccaggcggagaaaggagagttcagacaaccaggagaacagagggaagccggagggcagcagcaaagcccgcaaggagaggacggccttcaccaaggagcagctgcgagagctggaggcagagtttgcccatcataactacctgactcggctccgcagatatgagattgcggtaaacctggacctctctgagcgccaggtcaaagtgtggttccagaaccgaaggatgaagtggaagcgtgtgaagggaggtcagcccatctcccccaatgggcaggaccctgaggatggggactccacagcctctccaagttcagagtgagattctgcatggaggaaaaatgactaaggactgagccccctacccaactacccccaccccaatcccaccttcaccctcttccttccccagccagggcagcctctccacatctttccctgactcttggatatgaaactgcccagcattcctgggagtcttaggattttctaggaagttctgtccagcctcttagcagcctcttccctagggcctttgctcccacactctcatggaatcagacagagatcctaccgggccggatgaatctggaaacagcttcagagatactgcttctcagcgtctcttggctgccacccatgcctcctcctaccgctgttctcctaggtcagccaggcctcctcctggtctggacaccacctggcctggtgggagaggagctttggaaccagctggcgactcggaaagtaaatgcttcaaaaggaaggaaatgacagagacacacgcccttgcccaccttcctctgtaggctgcacatctgaggctttggggccccttagttgtcccgaaaccccaagaaaaatcagaatgaggagagtcaaggacagcaactcagctgctgcaagccagaaacacatccctgtctccaaatttgttggctaagtggagacacttctgagaactgactagagaagacagaaaaatagcccgatgtaggtttcggtgtccccatataggcccgtccacacaggcttgactgggtggacaagaatgaacccatgacagcacctgctgcttcaaaatcaaaatcaatttagggatacagcaggggctgttgggctgtgctccagagaaaaggagcagctactccttttaaatccacgatttctggattgaaaacctgtccagatgctgagttgttgggctgaacaactaggagctgaaaacaacgtagaggctggaaagtgtcccctgcattctggaggggaggggagataataaggagggctgctgggtgagggcctggagatgtggaaccctggagtggaaggttctccagtgacagtgtcctgtgactgcaaaaggggacaagaaaatccctcttcctccatgggatggatttaagctcttgctgtgtgttctacaaatgctgttattgtgggaggaaatgctaggtttttgtgtgtggactgcccagacctcagccaggtcttctggagatgacatttgaggactgatggccaaagagcatgggggactgaagccctggctgcctcagcgctctgtctcccaacaccagctggtgttgcagagggaggtcaacgtgagtttggatctcttgtacgcagatgtaatcattcacatgtaaaaataaccccacctccccaccccaaaaagggcaagagctgtggaaaatgattgccaaatgagatggctggttagagcatgattttttctaaagcatacttcatatattttcttaagattacatcaagctaattgtgcgagctcaattcactttgtaagaaaactctcggagaaataaaatcaataaaaagcaaaaaaaaaaaaaaaaaa

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