LOCUS AF060999 1574 bp mRNA linear HUM 19-SEP-1998
DEFINITION Homo sapiens ectodysplasin-A EDA isoform II (ED1) mRNA, complete
cds.
ACCESSION AF060999
VERSION AF060999.1
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 1574)
AUTHORS Monreal,A.W., Zonana,J. and Ferguson,B.
TITLE Identification of a new splice form of the EDA1 gene permits
detection of nearly all X-linked hypohidrotic ectodermal dysplasia
mutations
JOURNAL Am. J. Hum. Genet. 63 (2), 380-389 (1998)
PUBMED 9683615
REFERENCE 2 (bases 1 to 1574)
AUTHORS Monreal,A.W., Zonana,J. and Ferguson,B.
TITLE Direct Submission
JOURNAL Submitted (21-APR-1998) Molecular and Medical Genetics, Oregon
Health Sciences University, 3181 S.W. Sam Jackson Park Rd., L103,
Portland, OR 97201, USA
FEATURES Location/Qualifiers
source 1..1574
/db_xref="H-InvDB:HIT000064942"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq12-q13.1"
/tissue_type="liver"
/dev_stage="fetus"
gene 1..1574
/gene="ED1"
5'UTR 1..241
/gene="ED1"
CDS 242..1417
/gene="ED1"
/note="alternative splice product; X-linked hypohidrotic
ectodermal dysplasia region"
/codon_start=1
/product="ectodysplasin-A EDA isoform II"
/protein_id="AAC36302.1"
/translation="MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFL
GFFGLSLALHLLTLCCYLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPI
TSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPG
PPGPPGPQGPPGLQGPSGAADKAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSR
ITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTR
SIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS"
3'UTR 1418..1574
/gene="ED1"
BASE COUNT 333 a 497 c 445 g 299 t
ORIGIN
1 attccctcgg cgggccagcc tcccctctct cccgcccctc ctcctccctt tcccacccct
61 cggagtagag ctgcacatgc ggctgctccc tgctccgtcc cgcccagcca ctgtcgcgca
121 ggaacgggtc cctgcagccc ccagccgatg gcaggacagt agccgcctgt cagaggtcgt
181 gaacggctga ggcagacgca gcggctcccg ggcctcaaga gagtgggtgt ctccggaggc
241 catgggctac ccggaggtgg agcgcaggga actcctgcct gcagcagcgc cgcgggagcg
301 agggagccag ggctgcgggt gtggcggggc ccctgcccgg gcgggcgaag ggaacagctg
361 cctgctcttc ctgggtttct ttggcctctc gctggccctc cacctgctga cgttgtgctg
421 ctacctagag ttgcgctcgg agttgcggcg ggaacgtgga gccgagtccc gccttggcgg
481 ctcgggcacc cctggcacct ctggcaccct aagcagcctc ggtggcctcg accctgacag
541 ccccatcacc agtcaccttg ggcagccgtc acctaagcag cagccattgg aaccgggaga
601 agccgcactc cactctgact cccaggacgg gcaccagatg gccctattga atttcttctt
661 ccctgatgaa aagccatact ctgaagaaga aagtaggcgt gttcgccgca ataaaagaag
721 caaaagcaat gaaggagcag atggcccagt taaaaacaag aaaaagggaa agaaagcagg
781 acctcctgga cccaatggcc ctccaggacc cccaggacct ccaggacccc agggaccccc
841 aggaattcca gggattcctg gaattccagg aacaactgtt atgggaccac ctggtcctcc
901 aggtcctcct ggtcctcaag gaccccctgg cctccaggga ccttctggtg ctgctgataa
961 agctggaact cgagaaaacc agccagctgt ggtgcatcta cagggccaag ggtcagcaat
1021 tcaagtcaag aatgatcttt caggtggagt gctcaatgac tggtctcgca tcactatgaa
1081 ccccaaggtg tttaagctac atccccgcag cggggagctg gaggtactgg tggacggcac
1141 ctacttcatc tatagtcagg tagaagtata ctacatcaac ttcactgact ttgccagcta
1201 tgaggtggtg gtggatgaga agcccttcct gcagtgcaca cgcagcatcg agacgggcaa
1261 gaccaactac aacacttgct ataccgcagg cgtctgcctc ctcaaggccc ggcagaagat
1321 cgccgtcaag atggtgcacg ctgacatctc catcaacatg agcaagcaca ccacgttctt
1381 tggggccatc aggctgggtg aagcccctgc atcctagatt cccccatttt gcctctgtcc
1441 gtgccccttc cctgggtttg ggagccagga ctcccaaaac ctctaagtgc tgctgtggag
1501 tgaggtgtat tggtgttgca gccgcagaga aatgccccat tgttatttat tccccagtga
1561 ctccagggtg acaa
//