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
//