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
//