LOCUS       AF061192                1169 bp    mRNA    linear   HUM 14-NOV-1998
DEFINITION  Homo sapiens ectodysplasin-A isoform EDA-D (ED1) mRNA, complete
            cds.
ACCESSION   AF061192
VERSION     AF061192.1
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 1169)
  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 1169)
  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..1169
                     /db_xref="H-InvDB:HIT000064954"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13"
     gene            1..1169
                     /gene="ED1"
     CDS             243..671
                     /gene="ED1"
                     /note="anhidrotic ectodermal dysplasia protein;
                     alternatively spliced"
                     /codon_start=1
                     /product="ectodysplasin-A isoform EDA-D"
                     /protein_id="AAC77374.1"
                     /translation="MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFL
                     GFFGLSLALHLLTLCCYLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPI
                     TSHLGQPSPKQQPLEPGEAALHSDSQDGHQACFPQVLLSL"
BASE COUNT          255 a          349 c          335 g          230 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 ggcaccaggc ctgttttcct caggtcttgc
      661 taagcctgtg acctgtcagc tatgcttaga tggccctatt gaatttcttc ttccctgatg
      721 aaaagccata ctctgaagaa gaaagtaggc gtgttcgccg caataaaaga agcaaaagca
      781 atgaaggagc agatggtaag tctactcagt tgatccttta tcacttctga attatttgtt
      841 agtaaaagta tccttttaag aactaccttc ttggtagggc atggtggctc acgcctgtaa
      901 tcctagcact ttgggaggcc cacgcgggcg gatcacttga ggtgagggat tcgaaaccag
      961 cctggccaac atggtgaagc cctgtctcta ctaaaaatac aaaaaaaatt agccgggcct
     1021 agtcccagct gcttgggaga ctaaggcagg agaatcgctt gaaactggga ggtagaggtt
     1081 gcagtgagct gagactgtgc cactgcactc cagcctgggt gacagtgcga gactccatct
     1141 gaaaaaaaaa aaaaaaaaaa aaaaaaaaa
//