LOCUS AF040628 5307 bp mRNA linear HUM 13-NOV-1998 DEFINITION Homo sapiens ectodysplasin-A (EDA) mRNA, complete cds. ACCESSION AF040628 VERSION AF040628.1 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 5307) 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 5307) AUTHORS Srivastava,A.K. TITLE Direct Submission JOURNAL Submitted (31-DEC-1997) J.C.Self Research Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA FEATURES Location/Qualifiers source 1..5307 /db_xref="H-InvDB:HIT000063612" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" gene 1..5307 /gene="EDA" CDS 243..1418 /gene="EDA" /note="transmembrane protein with collagenous domains" /codon_start=1 /product="ectodysplasin-A" /protein_id="AAC77363.1" /translation="MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFL GFFGLSLALHLLTLCCYLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPI TSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPG PPGPPGPQGPPGLQGPSGAADKAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSR ITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTR SIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS" BASE COUNT 1294 a 1396 c 1380 g 1229 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 gatggcccag ttaaaaacaa gaaaaaggga aagaaagcag 781 gacctcctgg acccaatggc cctccaggac ccccaggacc tccaggaccc cagggacccc 841 caggaattcc agggattcct ggaattccag gaacaactgt tatgggacca cctggtcctc 901 caggtcctcc tggtcctcaa ggaccccctg gcctccaggg accttctggt gctgctgata 961 aagctggaac tcgagaaaac cagccagctg tggtgcatct acagggccaa gggtcagcaa 1021 ttcaagtcaa gaatgatctt tcaggtggag tgctcaatga ctggtctcgc atcactatga 1081 accccaaggt gtttaagcta catccccgca gcggggagct ggaggtactg gtggacggca 1141 cctacttcat ctatagtcag gtagaagtat actacatcaa cttcactgac tttgccagct 1201 atgaggtggt ggtggatgag aagcccttcc tgcagtgcac acgcagcatc gagacgggca 1261 agaccaacta caacacttgc tataccgcag gcgtctgcct cctcaaggcc cggcagaaga 1321 tcgccgtcaa gatggtgcac gctgacatct ccatcaacat gagcaagcac accacgttct 1381 ttggggccat caggctgggt gaagcccctg catcctagat tccccccatt ttgcctctgt 1441 ccgtgcccct tccctgggtt tgggagccag gactcccaga acctctaagt gctgctgtgg 1501 agtgaggtgt attggtgttg cagccgcaga gaaatgcccc agtgttattt attccccagt 1561 gactccaggg tgacaaggcc tgcttgactt tccagaatga ccttgagtta acaggacagt 1621 tgatggagcc ccagggttta catgaagcag aaccttcttt ggttccatgt tgactgactt 1681 atggcatgac tcttcaaccc cgaggtccct gttgtcagat ctattgtttg ttgcactaaa 1741 atgaggatcc agggcagcag gccagagaaa gcaaaggtgc actccagact ctgggggtgg 1801 acatctgacc ccaagggggc tgctgctcct ctcttgggta gggtagtggc tggggtggag 1861 tgggaagkga gcattgcagc ctaagaagaa ggccagagag ggaaaaggca ggtgcttttg 1921 gcagagacca taagagaaac ctgccaagga gcatccttgg cagtgggaat gttctttctg 1981 ctctatactg tggcctgcag gagggttgga gtgctcttcc cactccagct gacagccaca 2041 ccgtggcagc ttgctgggct ttgggaagtt tgctgtgctt tggaacaatc acagggaatg 2101 gccacaaacc tgcccgccta agaccctgaa tccgtacttg ggtcacatga ctctcatttt 2161 atttacagct gtgctccaca ctcagaaaat tccctggggt caccttctag ttgcccccat 2221 tcccagcctg actagaactc ctgtcttctt tctccatgga gcctacctct gtctgagaca 2281 ggtgcctaac ctgggacctg tggtcatgtg agtctgggat attctttagc ttacctgggc 2341 acagacagaa ttttccattt attaagcagt acagatgttt ttcatccatt cctaatcaaa 2401 ttctgtctgg ggacgaaggg ttggacggga tgacctccag aagtcccttc aatttctagt 2461 acctgtgact cttagccctc accacagcct tctaaattcc caaatcctag actgctcctg 2521 ggcattagca aggcagagcc tttttacctg gcctagaaag ggcaaggggt gaggatagga 2581 cagagggatt ttgttcaagt ttgctgcaac ccaagtggac gttaggccag gccttatctg 2641 aaaggccagc agctgatgct gtactaaccc agtctttctt cactctggct tcaaaaagcc 2701 acagcagagc attgtcaccg caggtcccca tgctgctccc ctaaagccag gctcaggaga 2761 agccagtgtc taggcactga gcagggatct gccccctagt tcaggtccaa attcaccttc 2821 ccctaaaccc caagcttccc aacagatcat atggtaggac cctcgagagc cttacttcaa 2881 agtgcctggg ctcagcctgg tttctgggtg ctagatccag cccaaacctg ggaaggccag 2941 ccttgtacag tctgctcctc ttgttcctga aatgtgtttc cttttcagga gatggggaat 3001 aatttccttc aggcagctga aattcaccaa gaacagcggg tacttatttc tcaagctgtg 3061 ccttcccttt ctaagcaacc acactgcttg gcccttcaag ggtcagggtg agacgtgatg 3121 ggctaggcct ccgttgtctg gttgctaatg acagccttgc aacccaaggt gaggtgaact 3181 ccaggcatgt gtctggccct aactcctata aagtgcctcg gacagtccgc agttgtagca 3241 gaaaccaaca agaaccactc cttcatgttt ggaaaataat ttctcttgta ttatctcctt 3301 tgaagaaggc aaggctgata atatgacaaa catcattgtt tagatgaggc tcagagaggt 3361 agcactctca gagtgttttg accagtttaa gccgcagacc tggagcttca gccaggtctg 3421 actccaaagc tgttccatta caccacagca ttgtgtggaa tttgaggtct agagagaacc 3481 aataaaagtg gtaattggga actgaaatcc ttgagagttc cggggagaaa cccagagatg 3541 cctgatttca ttcctcgatg gtaatacccg tcctctcggc tgccaggggc tctgtggcaa 3601 aaagagtcag acatttcttt ggaaaacagc gaacagcctt agagctcttg tgttcagaag 3661 aatcttcctg gcacaatgtt ggagcagcag gcctctggga cccacagaac ttgtggcctt 3721 tatgttcttt cacccatcct aggaaccagc caaccatcat gtgtagagcc cctactgtgg 3781 gcaaagtcct cctttcatta ccctacagac agcttacagg agccagcctg cttcccacaa 3841 ctactagtgt gactccttat ctctttccac cataccttag agactttgat actaccaggg 3901 tctctcaggg atggagggaa gacctgaaag agaggactgg ttctgaggcc agaaaggtgt 3961 gaggagagag gaggaaaagt cttcctaatt gtgcccctaa agagcatcct gataccattc 4021 tattctccag acatggaggg gatgataaag gaaataggat ctccactgga cccttgattc 4081 attctgaacc ctccaaagga actctaagag ggcgagggat gatgagggaa gcaataggta 4141 gctggggagc cctattgctg ctaagtcatt ggcaaagtgc aaagcaattt actgatgaga 4201 gaatgtggaa atagatgtgc agtttggaat tatgttggtg tnaatttgcc agaggaccaa 4261 tgcttgcatg gagaatggac gaggacattt gtgggcaagc agatgacaga ggtttgaagg 4321 agaatggcat ggcaggagtc tctgccagtt acttgggctt caacagccaa gctggcacaa 4381 aagacagctg gcggaggctg ctcggctact ggttacctgg agaagtagta tttgcctatt 4441 tcccccttca tccatcctga gccaaatttc ntttgctgaa caggaaagag cyaggaaccc 4501 tggaggtaaa caaagacttt gancctgtnt nagtgtatgt gtttntgtaa cttcctgtgg 4561 agtgcaaata gattcagaga aatttagagc taaaaaggcc cttagaggga atctagccca 4621 acctacattc caccctgtta cttatgtaga aactgaggcc cagagaggga agatgacctg 4681 ccccaagtgg tgagcaagca ccaacctcca gactcagcag agtgaggggg taaagcagtt 4741 cctgtcccac atggccatct tctttcttcc acccacaaac tccaggctgg aagtacttgg 4801 cccccttcag gagcctggcc aggcagggag agagtagctg cagccttcat cagaactctt 4861 cctcctccca aggcattctc ccagctctag cctctggact ggaaagcaca agactggccc 4921 agtgccagca agtccttagg ctactgtaat gctgcctcag gacccatccc tgcctggagg 4981 ctcctctagg ccctgtgagc acaaagaaga aagctgattt ttgtctttta atccatttca 5041 ggactctctc caggagggct cggggtgtgt catttctata ttcctccagc tgggattggg 5101 gggtgggctt tgttgtgaga atggcctgga gcaggcccaa tgctgctttt gggggtcagc 5161 atccagtgtg agatactgtg tatataaact atatataatg tatataaact gggatgtaag 5221 tttgtgtaaa ttaatgtttt attctttgca aataaaacgc tttccccgtc aaaaaaaaaa 5281 aaaaaaaaaa aaaaaaaaaa aaaaaaa //