LOCUS AF061190 1118 bp mRNA linear HUM 14-NOV-1998 DEFINITION Homo sapiens ectodysplasin-A isoform EDA-B (ED1) mRNA, complete cds. ACCESSION AF061190 VERSION AF061190.1 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 1118) AUTHORS Bayes,M., Hartung,A.J., Ezer,S., Pispa,J., Thesleff,I., Srivastava,A.K. and Kere,J. TITLE The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats JOURNAL Hum. Mol. Genet. 7 (11), 1661-1669 (1998) PUBMED 9736768 REFERENCE 2 (bases 1 to 1118) AUTHORS Bayes,M., Hartung,A.J., Ezer,S., Pispa,J., Thesleff,I., Srivastava,A.K. and Kere,J. TITLE Direct Submission JOURNAL Submitted (24-APR-1998) Department of Medical Genetics, University of Helsinki, Haartmaninkatu 3, Helsinki 00014, Finland FEATURES Location/Qualifiers source 1..1118 /db_xref="H-InvDB:HIT000064952" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq13" gene 1..1118 /gene="ED1" CDS 243..779 /gene="ED1" /note="anhidrotic ectodermal dysplasia protein; alternatively spliced" /codon_start=1 /product="ectodysplasin-A isoform EDA-B" /protein_id="AAC77372.1" /translation="MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFL GFFGLSLALHLLTLCCYLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPI TSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS KSNEGADGKSTQLILYHF" repeat_region 819..1118 /gene="ED1" /rpt_family="Alu" BASE COUNT 248 a 335 c 323 g 212 t ORIGIN 1 attccctcgg cgggccgagc ctcccctctc tcccgcccct cctcctccct ttcccacccc 61 tcggagtaga gctgcacatg cggctgctcc ctgctccgtc ccgcccagcc actgtcgcgc 121 aggaacgggt ccctgcagcc cccagccgat ggcaggacag tagccgcctg tcagaggtcg 181 tgaacggctg aggcagacgc agcggctccc gggcctcaag agagtggatg tctccggagg 241 ccatgggcta cccggaggtg gagcgcaggg aactcctgcc tgcagcagcg ccgcgggagc 301 gagggagcca gggctgcggg tgtggcgggg cccctgcccg ggcgggcgaa gggaacagct 361 gcctgctctt cctgggtttc tttggcctct cgctggccct ccacctgctg acgttgtgct 421 gctacctaga gttgcgctcg gagttgcggc gggaacgtgg agccgagtcc cgccttggcg 481 gctcgggcac ccctggcacc tctggcaccc taagcagcct cggtggcctc gaccctgaca 541 gccccatcac cagtcacctt gggcagccgt cacctaagca gcagccattg gaaccgggag 601 aagccgcact ccactctgac tcccaggacg ggcaccagat ggccctattg aatttcttct 661 tccctgatga aaagccatac tctgaagaag aaagtaggcg tgttcgccgc aataaaagaa 721 gcaaaagcaa tgaaggagca gatggtaagt ctactcagtt gatcctttat cacttctgaa 781 ttatttgtta gtaaaagtat ccttttaaga actaccttct tggtagggca tggtggctca 841 cgcctgtaat cctagcactt tgggaggccc acgcgggcgg atcacttgag gtgagggatt 901 cgaaaccagc ctggccaaca tggtgaagcc ctgtctctac taaaaataca aaaaaaatta 961 gccgggccta gtcccagctg cttgggagac taaggcagga gaatcgcttg aaactgggag 1021 gtagaggttg cagtgagctg agactgtgcc actgcactcc agcctgggtg acagtgcgag 1081 actccatctg aaaaaaaaaa aaaaaaaaaa aaaaaaaa //