GGRNA | NM_013435.2

LOCUS       NM_013435               3197 bp    mRNA    linear   PRI 18-APR-2013
DEFINITION  Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.
ACCESSION   NM_013435
VERSION     NM_013435.2  GI:126116580
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 3197)
  AUTHORS   Abouzeid,H., Youssef,M.A., Bayoumi,N., ElShakankiri,N., Marzouk,I.,
            Hauser,P. and Schorderet,D.F.
  TITLE     RAX and anophthalmia in humans: evidence of brain anomalies
  JOURNAL   Mol. Vis. 18, 1449-1456 (2012)
   PUBMED   22736936
  REMARK    GeneRIF: The three consanguineous Egyptian anophthalmia patients
            carry a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX.
REFERENCE   2  (bases 1 to 3197)
  AUTHORS   Seko,Y., Azuma,N., Kaneda,M., Nakatani,K., Miyagawa,Y., Noshiro,Y.,
            Kurokawa,R., Okano,H. and Umezawa,A.
  TITLE     Derivation of human differential photoreceptor-like cells from the
            iris by defined combinations of CRX, RX and NEUROD
  JOURNAL   PLoS ONE 7 (4), E35611 (2012)
   PUBMED   22558175
  REMARK    GeneRIF: Photosensitive photoreceptor cells can be generated by
            combinations of transcription factors. The combination of CRX and
            RX generate immature photoreceptors: and additional NEUROD promotes
            maturation.
REFERENCE   3  (bases 1 to 3197)
  AUTHORS   Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M.,
            Toyama,S., Usami,R., Ohtoko,K. and Kato,S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest. Ophthalmol. Vis. Sci. 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3197)
  AUTHORS   Gonzalez-Rodriguez,J., Pelcastre,E.L., Tovilla-Canales,J.L.,
            Garcia-Ortiz,J.E., Amato-Almanza,M., Villanueva-Mendoza,C.,
            Espinosa-Mattar,Z. and Zenteno,J.C.
  TITLE     Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50
            unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases
  JOURNAL   Br J Ophthalmol 94 (8), 1100-1104 (2010)
   PUBMED   20494911
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3197)
  AUTHORS   Zhang,X., Li,S., Xiao,X., Jia,X., Wang,P., Shen,H., Guo,X. and
            Zhang,Q.
  TITLE     Mutational screening of 10 genes in Chinese patients with
            microphthalmia and/or coloboma
  JOURNAL   Mol. Vis. 15, 2911-2918 (2009)
   PUBMED   20057906
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3197)
  AUTHORS   Voronina,V.A., Kozhemyakina,E.A., O'Kernick,C.M., Kahn,N.D.,
            Wenger,S.L., Linberg,J.V., Schneider,A.S. and Mathers,P.H.
  TITLE     Mutations in the human RAX homeobox gene in a patient with
            anophthalmia and sclerocornea
  JOURNAL   Hum. Mol. Genet. 13 (3), 315-322 (2004)
   PUBMED   14662654
  REMARK    GeneRIF: Mutations associated with recessive anophthalmos and
            sclerocornea.
REFERENCE   7  (bases 1 to 3197)
  AUTHORS   Mikkola,I., Bruun,J.A., Holm,T. and Johansen,T.
  TITLE     Superactivation of Pax6-mediated transactivation from paired
            domain-binding sites by dna-independent recruitment of different
            homeodomain proteins
  JOURNAL   J. Biol. Chem. 276 (6), 4109-4118 (2001)
   PUBMED   11069920
REFERENCE   8  (bases 1 to 3197)
  AUTHORS   Mathers,P.H. and Jamrich,M.
  TITLE     Regulation of eye formation by the Rx and pax6 homeobox genes
  JOURNAL   Cell. Mol. Life Sci. 57 (2), 186-194 (2000)
   PUBMED   10766016
  REMARK    Review article
REFERENCE   9  (bases 1 to 3197)
  AUTHORS   Kimura,A., Singh,D., Wawrousek,E.F., Kikuchi,M., Nakamura,M. and
            Shinohara,T.
  TITLE     Both PCE-1/RX and OTX/CRX interactions are necessary for
            photoreceptor-specific gene expression
  JOURNAL   J. Biol. Chem. 275 (2), 1152-1160 (2000)
   PUBMED   10625658
REFERENCE   10 (bases 1 to 3197)
  AUTHORS   Mathers,P.H., Grinberg,A., Mahon,K.A. and Jamrich,M.
  TITLE     The Rx homeobox gene is essential for vertebrate eye development
  JOURNAL   Nature 387 (6633), 603-607 (1997)
   PUBMED   9177348
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF115392.1 and AC067859.7.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 23, 2007 this sequence version replaced gi:7305450.
            
            Summary: This gene encodes a homeobox-containing transcription
            factor that functions in eye development. The gene is expressed
            early in the eye primordia, and is required for retinal cell fate
            determination and also regulates stem cell proliferation. Mutations
            in this gene have been reported in patients with defects in ocular
            development, including microphthalmia, anophthalmia, and
            coloboma.[provided by RefSeq, Oct 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF115392.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-476               AF115392.1         4-479
            477-544             AC067859.7         138344-138411       c
            545-1712            AF115392.1         548-1715
            1713-3197           AC067859.7         132832-134316       c
FEATURES             Location/Qualifiers
     source          1..3197
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.32"
     gene            1..3197
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /note="retina and anterior neural fold homeobox"
                     /db_xref="GeneID:30062"
                     /db_xref="HGNC:18662"
                     /db_xref="MIM:601881"
     exon            1..476
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    80..82
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /note="upstream in-frame stop codon"
     STS             133..1253
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /db_xref="UniSTS:486124"
     variation       152
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2271732"
     CDS             188..1228
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /note="retina and anterior neural fold homeobox protein"
                     /codon_start=1
                     /product="retinal homeobox protein Rx"
                     /protein_id="NP_038463.2"
                     /db_xref="GI:126116581"
                     /db_xref="CCDS:CCDS11972.1"
                     /db_xref="GeneID:30062"
                     /db_xref="HGNC:18662"
                     /db_xref="MIM:601881"
                     /translation="

MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGAKERDRRLGARPACPKAPEEGSEPSPPPAPAPAPEYEAPRPYCPKEPGEARPSPGLPVGPATGEAKLSEEEQPKKKHRRNRTTFTTYQLHELERAFEKSHYPDVYSREELAGKVNLPEVRVQVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPSATLSPLGAGPGSGGGPAGGALPLESWLGPPLPGGGATALQSLPGFGPPAQSLPASYTPPPPPPPFLNSPPLGPGLQPLAPPPPSYPCGPGFGDKFPLDEADPRNSSIAALRLKAKEHIQAIGKPWQAL

"
     misc_feature    284..307
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2V3.2);
                     Region: Octapeptide motif"
     misc_feature    596..772
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /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(596..610,614..616,665..667,683..685,722..724,
                     728..733,740..745,749..757,761..766)
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(602..604,611..613,731..733,740..745,752..754)
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    1139..1201
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /note="OAR domain; Region: OAR; pfam03826"
                     /db_xref="CDD:146451"
     misc_feature    1154..1195
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2V3.2);
                     Region: OAR"
     misc_feature    1172..1186
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2V3.2);
                     Region: Nuclear localization signal (Potential)"
     variation       319
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2271733"
     exon            477..730
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /inference="alignment:Splign:1.39.8"
     exon            731..3197
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /inference="alignment:Splign:1.39.8"
     variation       1519
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3744892"
     variation       1604
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3744893"
     polyA_signal    1686..1691
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
     polyA_site      1712
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
     variation       2970
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:376858040"
     polyA_site      3197
                     /gene="RAX"
                     /gene_synonym="MCOP3; RX"
ORIGIN

ctgggactaaggcggcagcgggctgagcgctcggccacccccagcgtgcgcagcccgggcgggcttcgcccgcggagcttgacctagggtcgggacccgtcgggttgcaccgccgcactcgggaagacccggcttcgagcctctcctctccgtctccaaagcgccctcccgcctcccggcgctccccatgcacctgccgggctgcgcgccagccatggccgacgggagcttctcgcttgccggccacctgctccgcagcccgggcgggagcacctcgcgacttcacagcatcgaggccatcctggggtttaccaaggacgacgggatcctcggcaccttcccggcggagcggggcgcccggggcgcgaaggagcgggataggaggctgggcgcgcggcccgcctgccccaaggcgcccgaggaaggctccgagccctccccgccgccagccccggcgcccgcccccgagtacgaagcccctcgaccctactgccccaaggagcccggggaggcacggccgagcccagggctgcccgtcgggccagccaccggcgaagcgaaactgtcagaggaggaacagcccaagaaaaagcatcggcggaaccgcacgactttcaccacgtaccagctgcatgagctggagcgcgcgttcgagaagtcccactacccggacgtgtacagccgcgaggagctggccggcaaggtcaacctaccagaggtccgggtccaggtgtggttccagaaccgacgggctaagtggcggcggcaggagaagctggaagtgtcctccatgaagctgcaggactcgcccctcctctccttcagccgctccccgccctccgcgacgctgtcgcccctcggggcgggcccgggcagcggtggcgggccggctgggggcgcgctgccgctggagtcctggctcgggccgccgctgccgggcgggggcgccacggcgctgcagagcctgccgggcttcgggccgccggcgcagagcctgcctgccagctacacgccaccgccgccgcctccgcccttcctgaactccccgccgttgggccccggcctgcaacctctcgcgccgccgccgccctcctacccgtgcgggcccggcttcggggacaagttcccgctggacgaggcggacccgcgcaacagcagcatcgcggcgctgcgtctgaaagccaaggagcacatccaggccatcgggaagccgtggcaggccctctaggggcactggggaacgtcttgggatccgaccccgggccgaccgcaccgtacccgcatcctctctcccagggacaacccccctccccagctcggcccctctttccctgtcgcctgcagccacccgccaagcatagttcagggccacgcgcctgctcccgatgcacggggagaagggcgactttcaggcctgaggagaggccctctggccgcctcaacgcacttcgcggacctcagccctgcagctggagggcaacaggctgccgggccccgctggccacgccgctcccatcaccgcaggcgctggagcctccaggcccaaacaggctgaagctcctaaacttggccattcccaggaggcttggagacccccagataaccataacagggaagcaggggaggcggaaaaatagagtttgagaaacttttgtataagtagtttcaaactatttgagaggagaattaaagacatgcttgttttgtttcgactctgtttaagcacgctcaggacttggggagaggagtgaatattggggtacgggaggagggtgcgttgacggacagggtgggtcagggaaagaggaggactgagaagaagctcagggtttccttgtgaaaattctagggacacttcgctgcagcagagaatcgtccccattccgaacgcttcggcggcctagaccagaggcgcccttccctggagccggcgtgcgcgcttggggtccggagtggatggggctaaggctcagatgctagcgcgctcccagttcccccgctagccccatagtccagcggcagctgatattttcaagtttgacttcaatagaaagcgtcaagaccaccttccctagggcgagagcgaagtgtcccccggcccctggcgtccccgctctcctaaggactcctctcagttcaccaagcagatctccggttcggtgccagtccctaacacccaaggttgatcaccagcggtacaagaactgaggcaaagagatgcttttccttttcggagccgcgagactctctaacctccccaactcgctccacactcgccaacccagagttcggtaaaaggcgcgtctggtgaggtgccgcgctcggagagtgtcctggagcgccctacgccaccgccccgagagctagttcttgcgggcgtgccctggacagtatctgcagttctttggcgccggctctagggcgaggaaggaatctcgaaatctcagcccgcttcacaatctcctgagactctctgaagaaggagagtcccggactcccgcctgagcgtgctcgatatccaccgttgacactggaagctgggcgaccgccagcagaacctggatgcccgccaacaggtcctggcacggggggggggggggcgtccaccccacaacccccgtccctaagcgtgctttcaggatgatgcccccagagccttaattagcatcaactggctactgtctgtcggtcctgagcaaattagtgaagctcccagtcccctttcctcgtctaaataaactctgtctctctggaaggtgggaaagatggaataagatcacctgtaaaggctttgtggaaagtaccaagaccctggcatgacgcaatatggattgtaatcatcgtccccatttccccgaaattccctggctgttctccggttcctgaaaccgacttgggaaaaggatgaccacgctggagctgggaatatgggaagcctcatcatagtttccagtcctttctctgcgggtctaagaggctattgcataaccagggctgtgtacccctagacctccagatggtgccttgcacacagtaggctgatcagtaaaaatgtactgaataaattattcccccccaagaggtagggagtaatatctgcacttttcctcacaaggatgtctccttgggggaggaggatggagcagcccgtgtgttatcaccttttagcaagaaaacaaaacaaaacaaaaccagaa

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