LOCUS AF061194 1491 bp mRNA linear HUM 14-NOV-1998
DEFINITION Homo sapiens ectodysplasin-A isoform EDA-F (ED1) mRNA, complete
cds.
ACCESSION AF061194
VERSION AF061194.1
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 1491)
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 1491)
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..1491
/db_xref="H-InvDB:HIT000064956"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq13"
gene 1..1491
/gene="ED1"
CDS 243..686
/gene="ED1"
/note="anhidrotic ectodermal dysplasia protein;
alternatively spliced"
/codon_start=1
/product="ectodysplasin-A isoform EDA-F"
/protein_id="AAC77376.1"
/translation="MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFL
GFFGLSLALHLLTLCCYLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPI
TSHLGQPSPKQQPLEPGEAALHSDSQDGHQLHVSFSLRKKKAGHQ"
BASE COUNT 378 a 413 c 390 g 310 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 ggcaccagct ccatgtttct ttttcactga
661 gaaaaaagaa agcaggacac caatgagttg tgtcttccct ctgtccactc tcagcacctt
721 cactctgaag atctgttaaa agcacacgag tcgtctcagt ccctcagtgg gagctgtttc
781 acctggcgtc atctagtcag ccatcttcaa taataactgt taaatgaaca tttatatcca
841 ctgaaaccac taagtgaaat aaagatgtgt ttaggcaaag aactgagttt atgacttata
901 gatcctcacc aaggaaactt ccaaaagatg tacttcacag aagaagaaaa tgatcccaga
961 aggaaaattt gagatgtaag acagaagaac aagcaaagat tgtttaaaca tatggcccta
1021 ttgaatttct tcttccctga tgaaaagcca tactctgaag aagaaagtag gcgtgttcgc
1081 cgcaataaaa gaagcaaaag caatgaagga gcagatggta agtctactca gttgatcctt
1141 tatcacttct gaattatttg ttagtaaaag tatcctttta agaactacct tcttggtagg
1201 gcatggtggc tcacgcctgt aatcctagca ctttgggagg cccacgcggg cggatcactt
1261 gaggtgaggg attcgaaacc agcctggcca acatggtgaa gccctgtctc tactaaaaat
1321 acaaaaaaaa ttagccgggc ctagtcccag ctgcttggga gactaaggca ggagaatcgc
1381 ttgaaactgg gaggtagagg ttgcagtgag ctgagactgt gccactgcac tccagcctgg
1441 gtgacagtgc gagactccat ctgaaaaaaa aaaaaaaaaa aaaaaaaaaa a
//