GGRNA | NM_021570.3

LOCUS       NM_021570               1498 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens BARX homeobox 1 (BARX1), mRNA.
ACCESSION   NM_021570
VERSION     NM_021570.3  GI:153218469
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 1498)
  AUTHORS   Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
            Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
            Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS ONE 5 (7), E11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1498)
  AUTHORS   Vieira,A.R., McHenry,T.G., Daack-Hirsch,S., Murray,J.C. and
            Marazita,M.L.
  TITLE     Candidate gene/loci studies in cleft lip/palate and dental
            anomalies finds novel susceptibility genes for clefts
  JOURNAL   Genet. Med. 10 (9), 668-674 (2008)
   PUBMED   18978678
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1498)
  AUTHORS   Krivicka-Uzkurele,B., Pilmane,M. and Akota,I.
  TITLE     Barx1, growth factors and apoptosis in facial tissue of children
            with clefts
  JOURNAL   Stomatologija 10 (2), 62-66 (2008)
   PUBMED   18708738
  REMARK    GeneRIF: Regional expression of barx1 was observed in epithelium
            before mixed dentition, while during mixed dentition gene appeared
            in hyaline cartilage. Expression of barx1 appears in cleft lip
            palate affected structures mainly in mixed dentition.
REFERENCE   4  (bases 1 to 1498)
  AUTHORS   Lowry,R.B., Gould,D.B., Walter,M.A. and Savage,P.R.
  TITLE     Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome
            (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year
            follow up
  JOURNAL   Am. J. Med. Genet. A 143A (11), 1227-1230 (2007)
   PUBMED   17486624
  REMARK    GeneRIF: PITX2, BARX1, and FOXC1 mutations were absent in De
            Hauwere syndrome and suggest that De Hauwere syndrome is caused by
            a different gene.
REFERENCE   5  (bases 1 to 1498)
  AUTHORS   Gould,D.B. and Walter,M.A.
  TITLE     Cloning, characterization, localization, and mutational screening
            of the human BARX1 gene
  JOURNAL   Genomics 68 (3), 336-342 (2000)
   PUBMED   10995576
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC064363.1 and BC009458.1.
            On Jul 24, 2007 this sequence version replaced gi:13386501.
            
            Summary: This gene encodes a member of the Bar subclass of homeobox
            transcription factors. Studies of the mouse and chick homolog
            suggest the encoded protein may play a role in developing teeth and
            craniofacial mesenchyme of neural crest origin. The protein may
            also be associated with differentiation of stomach epithelia.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC064363.1, AL555424.3 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025084, ERS025085 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-878               BC064363.1         46-923
            879-1498            BC009458.1         726-1345
FEATURES             Location/Qualifiers
     source          1..1498
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q12"
     gene            1..1498
                     /gene="BARX1"
                     /note="BARX homeobox 1"
                     /db_xref="GeneID:56033"
                     /db_xref="HGNC:955"
                     /db_xref="MIM:603260"
     exon            1..403
                     /gene="BARX1"
                     /inference="alignment:Splign:1.39.8"
     CDS             181..945
                     /gene="BARX1"
                     /note="BarH-like homeobox 1"
                     /codon_start=1
                     /product="homeobox protein BarH-like 1"
                     /protein_id="NP_067545.3"
                     /db_xref="GI:153218470"
                     /db_xref="CCDS:CCDS35070.2"
                     /db_xref="GeneID:56033"
                     /db_xref="HGNC:955"
                     /db_xref="MIM:603260"
                     /translation="

MQRPGEPGAARFGPPEGCADHRPHRYRSFMIEEILTEPPGPKGAAPAAAAAAAGELLKFGVQALLAARPFHSHLAVLKAEQAAVFKFPLAPLGCSGLSSALLAAGPGLPGAAGAPHLPLELQLRGKLEAAGPGEPGTKAKKGRRSRTVFTELQLMGLEKRFEKQKYLSTPDRIDLAESLGLSQLQVKTWYQNRRMKWKKIVLQGGGLESPTKPKGRPKKNSIPTSEQLTEQERAKDAEKPAEVPGEPSDRSRED

"
     misc_feature    607..777
                     /gene="BARX1"
                     /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(607..621,625..627,676..678,694..696,733..735,
                     739..744,751..756,760..768,772..777)
                     /gene="BARX1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(613..615,622..624,742..744,751..756,763..765)
                     /gene="BARX1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     exon            404..695
                     /gene="BARX1"
                     /inference="alignment:Splign:1.39.8"
     exon            696..780
                     /gene="BARX1"
                     /inference="alignment:Splign:1.39.8"
     exon            781..1482
                     /gene="BARX1"
                     /inference="alignment:Splign:1.39.8"
     variation       879
                     /gene="BARX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11552443"
     variation       1230
                     /gene="BARX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1057713"
     variation       1272
                     /gene="BARX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1057715"
     polyA_signal    1461..1466
                     /gene="BARX1"
     polyA_site      1482
                     /gene="BARX1"
ORIGIN

gcgcgccccgcccgcgccctgcgcctccgcccggccggccggcgggggagggggcatgagccggcgcccgcgcgccgccccgagctgcgggccggcctagagccccgcgcgggccccgcgccggagccaagccgtcgccgccgccgccgccaaaccgcgggcgcagcagtgggcgccgcgatgcagcggccgggggagccgggcgccgcgcgcttcggcccgcccgagggctgcgcggaccaccggccgcaccgctatcgcagcttcatgattgaggagatcctcacggagccacccgggcccaagggcgccgcgcccgcagccgccgctgccgcggcgggcgagctgctgaagttcggcgtgcaggcgctgctggcggcgcggcccttccacagccacctggccgtgctgaaggccgagcaggcggcggtgttcaagttcccactggcgccgctgggctgttcagggctgagctctgcgttgctggcggcagggcccgggctgcccggcgccgcgggtgcgccacacctgccgctcgagttgcagctccgcgggaagctggaggcggcaggccctggggagccaggcaccaaagccaagaaggggcgtcggagccgcactgtgttcaccgagctgcagctgatgggcctggagaaacgcttcgagaagcagaagtacctttccacgccggacagaatagatcttgctgagtccctgggcctgagccagttgcaggtgaagacgtggtaccagaatcggaggatgaagtggaagaaaatagtgctgcagggcggcggcctggagtctcccaccaagcccaaggggcggcccaagaagaactcaattccaacgagcgagcagcttactgagcaggagcgcgccaaggatgcagagaaaccggcggaggtgccgggcgagcccagcgacaggagccgcgaggactgagggcggtatacggtgcggggcctgggatgcccgcgccacccgcagccccctcactcggcggaaacccgcgagccggcccttccgcgtccaagaagtttacttcctaagcctttttattatgatcttgaatgcggacaattggggccaaacgaggaaggacacagacccaaaagccagacccaggtcccagcgcgcttctgggctctaacctgggagactcgcatccagcccggcggaagctacagtctctaccctgagctccgtggcgcagagcgctccacgcgtattcacgccccgctcctcgcctgcacccccaccccgtctggggcctgccctcccggccggggagcctccaggcacacacccgcttctggacgtcggggacccagcggttgggctcaggccacaacggcctgagattgccccggggcaacccgtcggctcggcctggaggccgggtccccgatgtcgctggggcccctaccccctcttgcgaagacggtgactttttttccaataaaatattttatgacacaaaaaaaaaaaaaaaaaa

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