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2024-04-20 13:04:29, GGRNA : RefSeq release 60 (20130726)
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
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:30062 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:30062 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:30062 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:30062 -> Biological process: GO:0007389 [pattern specification process] evidence: IEA
GeneID:30062 -> Biological process: GO:0007601 [visual perception] evidence: TAS
GeneID:30062 -> Biological process: GO:0021854 [hypothalamus development] evidence: IEA
GeneID:30062 -> Biological process: GO:0043010 [camera-type eye development] evidence: IEA
GeneID:30062 -> Biological process: GO:0060173 [limb development] evidence: IEA
GeneID:30062 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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