LOCUS HSU59227 7451 bp DNA linear HUM 06-SEP-1996
DEFINITION Human ectodermal dysplasia protein (EDA) gene, partial cds.
ACCESSION U59227
VERSION U59227.1
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 7451)
AUTHORS Kere,J., Srivastava,A.K., Montonen,O., Zonana,J., Thomas,N.,
Ferguson,B., Munoz,F., Morgan,D., Clarke,A., Baybayan,P.,
Chen,E.Y., Ezer,S., Saarialho-Kere,U., de la Chapelle,A. and
Schlessinger,D.
TITLE X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused
by mutation in a novel transmembrane protein
JOURNAL Nat. Genet. 13 (4), 409-416 (1996)
PUBMED 8696334
REFERENCE 2 (bases 1 to 7451)
AUTHORS Srivastava,A.K., Montonen,O., Saarialho-Kere,U., Chen,E.,
Baybayan,P., Pispa,J., Limon,J., Schlessinger,D. and Kere,J.
TITLE Fine mapping of the EDA gene: a translocation breakpoint is
associated with a CpG island that is transcribed
JOURNAL Am. J. Hum. Genet. 58 (1), 126-132 (1996)
PUBMED 8554048
REFERENCE 3 (bases 1 to 7451)
AUTHORS Srivastava,A.K., Kere,J. and Schlessinger,D.
TITLE Direct Submission
JOURNAL Submitted (23-MAY-1996) Anand K. Srivastava, J.C. Self Research
Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor
Mendel Circle, Greenwood, SC 29646, USA
FEATURES Location/Qualifiers
source 1..7451
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq13.1"
misc_feature 3361..4504
/note="CpG island"
gene 3501..4138
/gene="EDA"
exon 3501..4138
/gene="EDA"
CDS 3743..>4138
/gene="EDA"
/codon_start=1
/product="ectodermal dysplasia protein"
/protein_id="AAC50678.1"
/translation="MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFL
GFFGLSLALHLLTLCCYLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPI
TSHLGQPSPKQQPLEPGEAALHSDSQDGHQ"
BASE COUNT 1964 a 1653 c 1758 g 2075 t
ORIGIN
1 gatctgccca tctcagcctc ccaaagtgtt gagattacag gcatgagcca ccacgcccag
61 ctatattatt ttttagggcc agacaaacaa aagtaggaag ggaaacttga tgagacagac
121 aggtcagtga aatattacaa accaactata ttttaatttc tggattattt atttttctgg
181 attactcaca acttccatag cagcacaagt aagaggataa tttcacaatt ttcatttggt
241 tctatttcct ttgtaacttt ccataatgta tcatgtagct cttcacccag gaaatgtttc
301 ataagtggta cggacaggca tcccttggac aagttccctt tttggaattc taggtagtct
361 aagttaccgt gagtgacttc atgtcttatt catttgacaa acaatattgg tgcctactat
421 gtggtaggtg ccatgctagg tattagaaat atcaaaataa aacaatattg gtgcctacta
481 tgtggtaggt gctatgctag agattagaaa tagcaaaata gaaaggacac aattcttacc
541 atcaaggagc tcatagttta gtggtaagaa atccatgtga aacattcaaa atgcagtgtg
601 gtaagtgata tcatcaaagt atgctcaggg tgcaatgaaa gcacaaagga agtctggttg
661 gagtgagttg tggggccata ccagacagaa catgtgaatt gattcttgaa gaatttatca
721 ggtttctaag gtaggggcaa tcttgacaaa gaaactagtt tgttcaaagg cacggtggtg
781 tgagaagtgt cagcaaattt agtagtgtgc aagcatgact tccttgtaaa atggtggaag
841 ataatgttgg agagacagac tagagggcat gttaaggagc ttatatcttg tctcccgtag
901 tacctgggat caaagaggta aggtgaatga gtgacaagga cagtaatgaa ggatagaaga
961 aagaggtggt gatggctgtg gaacttgatt gttcatgctt atttcaagga gacagttcta
1021 gctgagtgta gccacatggg aatgtgaatc cagagttata gggtcttctg gttttttaac
1081 agaaaagcag gaaatctgga ttttttaaaa atgtgaaatc tccagagttc caatagctga
1141 caattgcttt tttttttttt ttaattcaaa ggtttagttg atactgcacc gaacacaaca
1201 catctgtttg ctggatgtgg cctgcaggct gtcattgaga cctgtgcttt aggggacagg
1261 atacgtatgg aagcatagaa gctaactgaa acaaaacttt aaaacactta aaaaataacc
1321 acatacattc ctctctggat tgccccattc caacatttct actgcatatg atgacacatg
1381 ttctttctct ggggaagcaa agagaggtcc caggtcaaat gcaaccctca gggcttctga
1441 gggcaatggt gtaatccaga gtctcagtca agcctggtag aacatggtaa ggtgagacca
1501 gtgtggcccc tgagcatcac catcaccacc aggagatggc tgtcatttgt ttccttttca
1561 ttttagagga agaaagggca gcctgtttaa actgtgtatg caagaaagtc aacatggcca
1621 gtgacaacac agacaaaaca cagtgtaaag gctgttaaag ttcaaactcc tcattttact
1681 gccggagaaa ctaaggccct gaaaaagcac agtgacttgc tcagagggac ccagcaacct
1741 agtggcagga tgaagtctcc tgactcctgg tctagcattc tttccaataa tcccgggctg
1801 tgataattaa agtaaatcag cctggcagtt ttcctagcat ctagaattcc tggactggac
1861 aagcaggact tgagagcagc tgttaaacac cttttttccc cttagctcta ggatgatgat
1921 attctttgtg aactttatat ttcatgggta ggggttaaag agacgacaca aagatgtttt
1981 tgaagcactg agaccattca caaagtgtac agagaaaagt tgtctgtggc taatatattt
2041 aaggcttatg acctctgtgc tctctggact gacctgccag cagatgcttt tggttttgtg
2101 ttttatttct cttattttgt cttcttttct atttctatct atgtttttct tctcttccac
2161 cagcctaggt cttaggccta cacataagtg cccccggcat tgctgagcct ccatgatgac
2221 actcaagatg cctgctgcaa gtcaataaaa ttgttaatta ttcattactc aataacacgg
2281 aatgagagtg cgtagtgact atgaagcata catggttccc ctgctatggt catttcgctt
2341 tctataatct cagactagta actcttgtca attgtgactc ttgatttaat cctttccatc
2401 cttcatttca gggtctattg ttctgccttt tgccactttt ttttttttta tctgaacccg
2461 tttctgattg gtgcagctgt tgaagatgct gcagttgcag cagtgtacat ctggaacatt
2521 tggctgactt gttgaacttc ccccagggag tactccagga gaaggatggg aggggtggag
2581 aggccagaac agttgcctgt aaataaagat gccagtagtg tctggccatt ctgtggacca
2641 cacttgtaca aatccacttc attctggccc tcggtttccc tgtctactca ctgaagacat
2701 acgttctcca atcaaaactg ctgcagtgga agaaatctat tctggctgtg gatgctctca
2761 tacagcattt tttgcattgt acagggatcg atagatattt gttgaattaa ttaatatatc
2821 aagaaatcct aggagactgt tttacccttc aagggacaac atcatttcag ttccgcttgg
2881 catggggcgg cttctctgtt acttagattg agccttcaga gtcactccag gagtgaggct
2941 gcttgagtcc cacccattcc catagttccc aggctcctgg gtctcctttt cttcgggcga
3001 gccattgaat tgcaaacaca gcaggcatgg tttcattcca aacccagagc tgttttaatt
3061 agtttaacgt ctgttaaacg ctttgaagat tggaagcaac agataagtac tggatgatgt
3121 tattaacaac tgcagttaat tgcaaacatt tctattaatg ctagtttctg cctccttttc
3181 tttgctctac tttctttcca aggttcccaa attcttagcc tccccctcct ttcctccccg
3241 tactggcgct atagggttaa actggggcgg agcccaggga tgaacgacag cgccagtcac
3301 caactggtac ggggcaagcg ggaagagctg ggtggggcgg ccaggcagag gcgaaccctc
3361 acgcccccag gccccgcccc gcggctggag gcccggctgg aacggcacgg ggcggggcgc
3421 caaggcttgg cggccccgtg gttgggcgtc ccggcagccg cttgagggat ggggcggggt
3481 cggccgggac ctcctccttc attccctcgg cgggccgagc ctcccctctc tcccgcccct
3541 cctcctccct ttcccacccc tcggagtaga gctgcacatg cggctgctcc ctgctccgtc
3601 ccgcccagcc actgtcgcgc aggaacgggt ccctgcagcc cccagccgat ggcaggacag
3661 tagccgcctg tcagaggtcg tgaacggctg aggcagacgc agcggctccc gggcctcaag
3721 agagtgggtg tctccggagg ccatgggcta cccggaggtg gagcgcaggg aactcctgcc
3781 tgcagcagcg ccgcgggagc gagggagcca gggctgcggg tgtggcgggg cccctgcccg
3841 ggcgggcgaa gggaacagct gcctgctctt cctgggtttc tttggcctct cgctggccct
3901 ccacctgctg acgttgtgct gctacctaga gttgcgctcg gagttgcggc gggaacgtgg
3961 agccgagtcc cgccttggcg gctcgggcac ccctggcacc tctggcaccc taagcagcct
4021 cggtggcctc gaccctgaca gccccatcac cagtcacctt gggcagccgt cacctaagca
4081 gcagccattg gaaccgggag aagccgcact ccactctgac tcccaggacg ggcaccaggt
4141 gagtcaccta gtaggggcgg cggcggcccc ctcccctcgc gggtagggcg agggccctcc
4201 gccacagggg cctgggagca ctcagcaacc tcgagccaat ttagagggca ggaccaggga
4261 gggaccaggc gagcaaggga gaagttgccc agggcaggtt gtcttcggtc cctggcccag
4321 ctaatccaga ctccctgggg accccttgac ttggaaagtc tcgcgcgcgc ccgcggcccc
4381 tggctgcggg ctgcctcgag aaaagttggc gacgctcccg tcgaggaggt gcctgcgctg
4441 cccccccggc cgactaacgg cttggccctt ctgctcgtga tgaggttctc tgcccgcggt
4501 gcttgttttt tcgtgtctag agctgatgcc agaaccagca ggctcccctt tggagttgga
4561 gctgtaaaca gctgtaataa ctgttccacg cccgcccgtt gaaacaactt ttaaccgcat
4621 tttcagcgcg ggtccttgtg cgctgaccag aacgtgggct tgttcacact tacctgcaat
4681 ttgagactga ttgtcctcgg cgttctagtg aggatcagcg cccctgagga attctggtag
4741 aaatatgccg tcttgctaga caacttctga acagcaattt aaaaaatcta tggaaataaa
4801 actcaccctt tgcatgccgg ttctgattct taagcggggt aggtgtgcgg tgggaagggt
4861 gggtgggaag cgcttttact actgttagct tgagaacggg aatctgccaa tggaataatt
4921 actcaggact cgtcccccaa gagcagtttt gtttgttttt gcaatcttta tggtgtttgt
4981 gccctaataa gcaaactatt agcttgggtg ttggggtttc tattctattc tncctagctt
5041 tttattcaag taaatttcgt tcacttaacg taaatactgt cttggttgcc atatgtgaaa
5101 cttaggagaa gcatccaagg atcctttcga ggtggctaaa gaataataat aaaattgtac
5161 ctcttaggga agagagcaag ttgtacaaat aagttccttg aggtgaggga cccaagcctt
5221 ctatatttac tgccacatcc agagtcattg tcacaactct gtaaacatta tttgtgccac
5281 tttgacctcc catctaaagt ggtacgcttg atagagacat catattcatg ataatagtgt
5341 aatgttagga ctgatactta aaaaaaaaaa aaagatgtgc attgtaaagt tgccctgagc
5401 cttaaaatgt cttactagca cactccaatt tatataacag cttatcaaag aagagaatca
5461 gcagacatgc ttctcatact tgaaacttta aacattgtag ctaaacgata attaactagg
5521 attctgactc ctttatttat ctactgccac tccccccaca ccccaatgcc cagcagaagt
5581 atttagcagc tgaacattga tattctgtga aaagatgaaa gaattaaact tctttaatca
5641 aatgttggcc aatacttttt ggcattcagg atggacagag ccatttttat agactgagga
5701 ttagcagaac agctgtactg taaggtttct gtgatggcat gaaactctta caggtgtata
5761 atggcattta gttacctacc ctttgtgtgg cactaaaata gttctgtcta gatttaaaca
5821 cagcttccta tcttctgtct tttattcttt ctgttttaat atttttgagc aatagaagca
5881 aggatactag ctctttacat ttgttgacat caattggaat cagtttccta gagttatgaa
5941 gggcttatat gagtccattt cgtttgattc ccttgggaaa cataggccct aaagggaaag
6001 tgacttgccc aaggtcacat aactagagtc aaaactggga tgatagttgc tctaactcct
6061 agttgggtgc ccattccccc aactacctcc tgggaccttt tgcgagggag caagatggag
6121 ctccacatta gaacttttgc aaagtagagg gctcagatct gcatcatttt gttctactct
6181 gcctgtattt tgaccacagt aagtttaacc gtgtgttcct tattcttcct gaacttcact
6241 ttcagatttg gagtatactt tgaaggaatt ttagcccaaa ttcaacttgt ttattttaag
6301 ttgttcaact taagtttatc ttatcttgta tattagtttt agtatacaaa aataactttt
6361 taaaaaagtt gattgggtat taaattaata ctgctacaag cttggttaaa atttctagtg
6421 ccctggtgca ccctctgctg gctttacagt gacatttaat tttcagtatc tgctgacact
6481 cagaattcta cattgtgctg acagattctg attcagtaaa taaggaagta aacagccttg
6541 tgggatttgg ccacgtaggt catattttta tattttagtt tttaaacaca aacaactgct
6601 gttacagcaa atcttggatg gagaggaaga aagataaaaa tatacaccct tcaacgggca
6661 gtacattcag gtttcttacc agtttatctg taaggagtga aggcaagctg atgagagtaa
6721 actgcaggaa gctctcatga gaccaagtgg gcagaacagt cagagacact tcatgcaggt
6781 aggcaaaagt aaacctatcc atacttatga gatgatgggc tctgggctct cagttatgac
6841 tcaagaaagg gacctggaaa tcactgtaga tgtatgtata tcatctgtca atttaaaaac
6901 tttttaagca gggcacacaa ggaagttagg gcaggtagga tacagagcag agagatcagc
6961 acagttctcc atgtgaaatg ttagaaaagt ctccctggtg gggacacact tgctgatgat
7021 gaagtgagag agtcacatca gaccttccgt aatcaatcat ctccttcagc tggagcaacc
7081 aagtagctga gatttgtctg gatagttggt ggagattatc tcaagagcaa gggatatctc
7141 atttgtgtct gaattaggac aatatacagt aatatgatcg tcagagtaaa aaactaaaaa
7201 tcactgttgt tcattctgtg gagatgttgc gccggttgtg attgtggtcc tcaaaggcca
7261 agaatgtagt gggtatcatc aggaagggtg tcaaaaacaa caaaacaaac cacttacaaa
7321 acacttattt tttccatgta caagatcaaa agcagattgg cttctacaat cagacaggaa
7381 attctggtgg ctgctcctca agaaaagcct aacagctgat aaaagtcctc aaaaacccca
7441 ttaaattgat c
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