LOCUS AF024711 1445 bp DNA linear HUM 08-DEC-1997 DEFINITION Homo sapiens cone rod homeobox protein (CRX) gene, complete cds. ACCESSION AF024711 VERSION AF024711.1 KEYWORDS . 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 1445) AUTHORS Freund,C.L., Gregory-Evans,C.Y., Furukawa,T., Papaioannou,M., Looser,J., Ploder,L., Bellingham,J., Ng,D., Herbrick,J.S., Duncan,A., Scherer,S.W., Tsui,L.-C., Loutradis-Anagnostou,A., Jacobson,S.G., Cepko,C.L., Bhattacharya,S.S. and McInnes,R.R. TITLE Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor JOURNAL Cell 91 (4), 543-553 (1997) PUBMED 9390563 REFERENCE 2 (bases 1 to 1445) AUTHORS Freund,C.L., Looser,J., Ploder,L., Ng,D. and McInnes,R.R. TITLE Direct Submission JOURNAL Submitted (12-SEP-1997) Genetics, The Hospital for Sick Children, 555 University Ave., Toronto, ON M5G 1X8, Canada FEATURES Location/Qualifiers source 1..1445 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="19" /map="19q13.3" gene 36..935 /gene="CRX" /note="homeobox gene; responsible for autosomal dominant cone-rod dystrophy human disease" CDS 36..935 /gene="CRX" /note="homeodomain protein" /codon_start=1 /product="cone rod homeobox protein" /protein_id="AAB88418.1" /translation="MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERT TFTRSQLEELEALFAKTQYPDVYAREEVALKINLPESRVQVWFKNRRAKCRQQRQQQK QQQQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISDSYSPPLPGPSGSPTTAVATV SIWSPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASAFCSSPSAYGSPSSYFSGL DPYLSPMVPQLGGPALSPLSGPSVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTW KFTYNPMDPLDYKDQSAWKFQIL" BASE COUNT 300 a 477 c 365 g 303 t ORIGIN 1 gccccctgac ttgggcctca gtgtccccga agatcatgat ggcgtatatg aacccggggc 61 cccactattc tgtcaacgcc ttggccctaa gtggccccag tgtggatctg atgcaccagg 121 ctgtgcccta cccaagcgcc cccaggaagc agcggcggga gcgcaccacc ttcacccgga 181 gccaactgga ggagctggag gcactgtttg ccaagaccca gtacccagac gtctatgccc 241 gtgaggaggt ggctctgaag atcaatctgc ctgagtccag ggttcaggtt tggttcaaga 301 accggagggc taaatgcagg cagcagcgac agcagcagaa acagcagcag cagcccccag 361 ggggccaggc caaggcccgg cctgccaaga ggaaggcggg cacgtcccca agaccctcca 421 cagatgtgtg tccagaccct ctgggcatct cagattccta cagtccccct ctgcccggcc 481 cctcaggctc cccaaccacg gcagtggcca ctgtgtccat ctggagccca gcctcagagt 541 cccctttgcc tgaggcgcag cgggctgggc tggtggcctc agggccgtct ctgacctccg 601 ccccctatgc catgacctac gccccggcct ccgctttctg ctcttccccc tccgcctatg 661 ggtctccgag ctcctatttc agcggcctag acccctacct ttctcccatg gtgccccagc 721 tagggggccc ggctcttagc cccctctctg gcccctccgt gggaccttcc ctggcccagt 781 cccccacctc cctatcaggc cagagctatg gcgcctacag ccccgtggat agcttggaat 841 tcaaggaccc cacgggcacc tggaaattca cctacaatcc catggaccct ctggactaca 901 aggatcagag tgcctggaag tttcagatct tgtagaggac gcagtctcca tctctctcca 961 tcgggcctcg ggaccctttc tcttctgaat ctgcttccct gcagtttaga tcccgggatg 1021 gcattcctga gaaagcaacc cgaaccagct gtccttctga cagctcggtg ttcagcttac 1081 agagaccacc cctttcctcc acagggagag gctcctccct ctcctgggac agctcacagg 1141 tcctagtgat tctctcaacc ctaacaccgt ctggcacgat tgtgaccgct gaagtacacc 1201 acgagctcca ggcttcagaa agtggtgctg agaacttgct ccaagaagaa gtcaaaccaa 1261 acttgcagtt gatttggggt catgtttagg tcagaatcac cgtgcccttg aacaagcagg 1321 taggggggct tgataactta actttccacg tggacagaat tttttttttt gttttgtttt 1381 tgttctgcac tccagcctgg gcaacaagag tgaaactctg tctcaaaaaa aaaaaaaaaa 1441 aaacg //