LOCUS AF216184 7064 bp mRNA linear HUM 14-MAR-2000
DEFINITION Homo sapiens tissue-type heart Ellis-van Creveld syndrome protein
(EVC) mRNA, complete cds.
ACCESSION AF216184
VERSION AF216184.1
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 7064)
AUTHORS Ruiz-Perez,V.L., Ide,S.E., Strom,T.M., Lorenz,B., Wilson,D.,
Woods,K., King,L., Francomano,C., Freisinger,P., Spranger,S.,
Marino,B., Dallapiccola,B., Wright,M., Meitinger,T.,
Polymeropoulos,M.H. and Goodship,J.
TITLE Mutations in a new gene in Ellis-van Creveld syndrome and Weyers
acrodental dysostosis
JOURNAL Nat. Genet. 24 (3), 283-286 (2000)
PUBMED 10700184
REFERENCE 2 (bases 1 to 7064)
AUTHORS Goodship,J., Ruiz-Perez,V.L., Strom,T., Meitinger,T., Ide,S. and
Polymeropoulos,M.
TITLE Direct Submission
JOURNAL Submitted (09-DEC-1999) Biochemistry and Genetics, University of
Newcastle, 19 Claremont Place, Newcastle upon Tyne NE2 4AA, UK
FEATURES Location/Qualifiers
source 1..7064
/db_xref="H-InvDB:HIT000074133"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4p16"
/tissue_type="heart"
/dev_stage="fetal"
gene 1..7064
/gene="EVC"
CDS 185..3163
/gene="EVC"
/codon_start=1
/product="Ellis-van Creveld syndrome protein"
/protein_id="AAF37216.1"
/translation="MARGGAACKSDARLLLGRDALRPAPALLAPAVLLGAALGLGLGL
WLGCRAGRQRTRHQKDDTQNLLKNLESNAQTPSETGSPSRRRKREVQMSKDKEAVDEC
EPPSNSNITAFALKAKVIYPINQKFRPLADGSSNPSLHENLKQAVLPHQPVEASPSSS
LGSLSQGEKDDCSSSSSVHSATSDDRFLSRTFLRVNAFPEVLACESVDVDLCIYSLHL
KDLLHLDTALRQEKHMMFIQIFKMCLLDLLPKKKSDDELYQKILSKQEKDLEELEKGL
QVKLSNTEMSGAGDSEYITLADVEKKEREYSEQLIDNMEAFWKQMANIQHFLVDQFKC
SSSKARQLMMTLTERMIAAEGLLCDSQELQALDALERTMGRAHMAKVIEFLKLQVQEE
TRCRLAAISHGLELLAGEGKLSGRQKEELLTQQHKAFWQEAERFSREFVQRGKDLVTA
SLAHQVEGTAKLTLAQEEEQRSFLAEAQPTADPEKFLEAFHEVLERQRLMQCDLEEEE
NVRATEAVVALCQELYFSTVDTFQKFVDALFLQTLPGMTGLPPEECDYLRQEVQENAA
WQLGKSNRFRRQQWKLFQELLEQDQQVWMEECALSSVLQTHLREDHEGTIRGVLGRLG
GLTEESTRCVLQGHDLLLRSALRRLALRGNALATLTQMRLSGKKHLLQELREQRALEQ
GSSQCLDEHQWQLLRALEARVLEEASRLEEEAQQTRLQLQQRLLAEAQEVGQLLQQHM
ECAIGQALLVHARNAATKSRAKDRDDFKRTLMEAAVESVYVTSAGVSRLVQAYYQQIG
RIMEDHEERKLQHLKTLQGERMENYKLRKKQELSNPSSGSRTAGGAHETSQAVHQRML
SQQKRFLAQFPVHQQMRLHAQQQQAGVMDLLEAQLETQLQEAEQNFISELAALARVPL
AESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQTSGSLSSKRLSQQ
ESEAGDSGNSKKMLKRRSNL"
BASE COUNT 1664 a 2050 c 1965 g 1384 t
ORIGIN
1 ccctccggct cggcgaagca gggaagggga gagaagcagg agtcgggaga ctgcacaggc
61 cagaaagtct gcggagcggg ccgcgcccct ggcccgcccg ggctccaagt cccgcgtcgc
121 cgccctggcg gggacggtgc agcaggcggc gggatgcggc ggggcggcag cctgagcgcc
181 ccggatggcc cgcggcgggg cggcctgcaa gagcgacgcg cggctgctgc tggggcggga
241 cgcgctgcgg ccggcgcccg ccctgctggc ccccgccgtg ctgctgggcg ccgcgctcgg
301 cctcggcctc ggcctttggc ttggctgccg cgcgggccgc cagcgcacgc gacaccagaa
361 agacgacact caaaatctgc tcaagaattt ggagtctaat gcgcagaccc cctcggaaac
421 tggctcccca tcaaggagga ggaagagaga agtgcagatg tcgaaggaca aggaagctgt
481 tgatgaatgt gagccgcctt ccaacagcaa tatcacagca ttcgccctga aggccaaagt
541 catctacccc atcaatcaga agttccggcc tctggccgat ggctcctcca acccgtctct
601 gcatgaaaac ttaaagcagg ctgttttgcc acaccagccg gtagaggcct ctccttccag
661 cagtctgggg agcctgagcc agggtgagaa ggacgactgc agctcctcat ccagcgtcca
721 ctcggccacc agcgatgaca ggtttctcag ccgcaccttc ctccgggtga acgccttccc
781 tgaagtgctg gcctgcgaga gtgtagacgt tgacctgtgt atctacagcc ttcacttaaa
841 agacctgctg catttggaca cggcactgag gcaggaaaag catatgatgt ttattcagat
901 ttttaaaatg tgcctccttg accttcttcc taaaaagaag tcagatgatg aattatacca
961 gaagatcctt tcaaaacaag aaaaagattt ggaggaacta gaaaagggac ttcaggtcaa
1021 actgtcaaac acagaaatgt cgggggctgg tgactctgag tacatcaccc tggctgatgt
1081 ggaaaagaag gagagagaat actctgaaca gctaatcgat aatatggaag ctttctggaa
1141 acagatggca aatatccagc actttcttgt ggaccagttt aagtgttcca gctccaaagc
1201 ccgacagctg atgatgactc tgacggaaag aatgattgca gccgaagggc tattgtgcga
1261 ttctcaggag ctgcaggctc tggacgccct ggagaggacg atggggcggg cgcacatggc
1321 aaaagtgatt gagtttctga agctgcaagt ccaggaggag accaggtgcc ggctggctgc
1381 catctcccac ggcctggagc tgctggctgg tgaggggaag ctgtccgggc ggcagaagga
1441 ggagctgctc acgcagcagc acaaggcctt ctggcaggag gcagagcgct tcagccggga
1501 gtttgtccag cgaggcaaag acctggtcac ggcgtctctg gctcaccagg tggagggaac
1561 ggcaaaactc acgctggccc aagaggagga acagagaagc ttcctggctg aggcccagcc
1621 gactgctgac ccggaaaagt ttctcgaggc ttttcatgag gtcctggaga ggcagaggct
1681 gatgcagtgt gacctggagg aagaggagaa tgtcagagcc accgaggctg tggttgcact
1741 ctgccaggag ctgtacttca gcaccgtgga cactttccag aagttcgtgg atgccctgtt
1801 ccttcagacg ctccctggca tgactggcct ccccccggaa gagtgtgact acttgaggca
1861 ggaagtccag gagaacgctg cctggcagct ggggaagtca aatcgcttcc ggaggcagca
1921 gtggaaactc ttccaggagc tcctagagca agaccagcag gtgtggatgg aggagtgtgc
1981 gctgtccagc gtgctgcaga cacacctgcg ggaggaccac gagggcacca tccgcggcgt
2041 cttgggccga ctgggcggcc tcactgaaga gtccacgcgg tgtgtcctgc aggggcatga
2101 cctgctgttg cgctcagccc tccggaggct ggcactccgc ggcaacgccc tggccaccct
2161 gacgcagatg cggctatcgg ggaagaagca cctcctgcag gagctgcggg aacagcgtgc
2221 actggagcag gggtcctccc agtgcctgga cgagcatcag tggcagctgc tcagggccct
2281 ggaggcgcgt gtgctggagg aggccagccg gctagaggag gaagcacagc agacacggct
2341 gcagctccag cagcggctcc tggccgaggc ccaggaggtg gggcagcttc tgcagcagca
2401 catggagtgc gccattgggc aggcgctgct ggtgcatgca cggaatgcag ccaccaagag
2461 ccgggccaag gacagggatg acttcaagag gacactgatg gaggcggcag tggagagcgt
2521 ctacgtgacc agcgctggtg tcagccgcct ggtgcaggcg tattaccagc aaatcggaag
2581 gatcatggag gaccacgagg agagaaaact gcagcacctg aagaccctgc agggtgagag
2641 gatggaaaat tacaaactgc ggaaaaagca agaactcagc aacccttcgt cgggcagcag
2701 gacggcaggt ggcgctcatg agacctccca ggcggtccac cagaggatgc tgtcccagca
2761 gaagaggttc ctggcccagt tcccagtgca ccagcagatg cgtctgcacg cccagcagca
2821 gcaggcagga gtcatggacc ttctggaagc ccagctggag acccagctac aggaagctga
2881 acagaacttc atctccgagc tggcagcctt ggcccgagtg ccccttgctg aaagcaaact
2941 gttgcctgct aagcgtgggc tgctagagaa gcccctaagg actaaaagga agaagcccct
3001 gccccaggaa agaggggacc tgggggtgcc caacaatgag gaccttgcct ccggggacca
3061 gacctcaggc tcactcagca gcaaaaggct gagtcagcaa gaaagtgaag ctggggacag
3121 tgggaactca aagaagatgc taaagagaag aagcaacttg tagtttaaga ccagtcggtg
3181 ggacaagacc tgaagccctg ggtctgggtg tgaattccac cttccctcct gcagtgctga
3241 gaggcagcga ggacggagag gacagcggca tctctaggct cttctgagag ggacagagaa
3301 agaatagaaa tgtgccctaa aagcataaat gagtatcacc tgagaaaatt aggcattccc
3361 gtcttggaaa cacgtctctg tgagtttgca tttcatttgg cttggagccc tggctcgatg
3421 cctcatggat ctttctcccc aaggagggac gtcttgaggg gtccgagcct caggccaagg
3481 acccctgatg cagactctgg aatccctggc ccaaaggcct gtctgggccc atctggggct
3541 gaggacacac agatacataa tgacacctgc agaaatgtat tctctgagga cacttagaat
3601 atgaggaaga gggtgtggcc caaccctcac ttcacctggg gaggggcttc ttccggacag
3661 tagacaccct gcccgtgcag agagatgtca tgggggcacc tgctctccct gatagatgct
3721 gagagcatcc agaaacttcc agaccagccc tctcaccaca cccagaagag gcctttccca
3781 tctggagaga agcttccaga ccagcccttc acacaccaca gccaggaggg gcctttccca
3841 cctggagaga aacttccaga ccagcccctc ataccacagc caagaggggc ctttctcacc
3901 tggagagaaa tttccagacc atcccctctc accacagcca ggagaggcct ttcccaccgg
3961 tagagaaact tccagaccag cccctcacac cacagccaag agaagccttt ccagcctgga
4021 gagaaacttc cagaccagcc ctctcactac agccaggaga ggcctttccc gcctggaaac
4081 ttccggacaa gcctctcaca caccacagcc aggagaggcc tttcccacct ggacagaaac
4141 ttccagacca gcccctctca ccacagccag gagaggcctt taccacctgg agagaagctt
4201 ccagaccagc ccctcacacc acagccagga gaggcctttc ccacctggag agaaacttcc
4261 agaccagccc ctcataccac agccaagagg ggcctttctc acctggagag aaacttccag
4321 accagcccct cacaccaccg ccaggagagg cctttcccac cgggagagaa acttccagac
4381 cagcccctca caccacagcc aggagaggcc tttcccaccg ggagagaaac ttccagacca
4441 gccctctcac tacagccaga agaggccttt cccaccggga gaggaacttc cagaccagcc
4501 cctcacacca cagccaggag aggcctttcc cgcctggaga gaagcttcag gccagctcct
4561 cacaccacag ccaggagaga ccttttctgc ctggagagaa actttcagac cagccccaca
4621 caccacagcc aggagaggcc gttcctgcct ggagagaagc ttccagacca gcccttcaca
4681 ccacagccag gagaggcctt tcccacctgg agagaaactt ccagaccagc ccctctcacc
4741 acagccagga gaggccgttc ccacctggag ggaaaattgc tcctttgatg gaggttaggg
4801 actgtcaccc tcagcactgt gaacataccg ggcgagatca ttcttcaggg gaaggagctg
4861 cccagagcat cacaggatgt tccagtgtcc ctggtctctg cccaccagat gccagcactc
4921 ccaccattcg tggcaaccaa ggatgtctcc agacactgcc ccgtgtccat ggggttatca
4981 cccactgtgc tgagtcaaag ggtgccttgc cctggtctaa tccaggacat agccgtggat
5041 acgtccaaaa atccccagaa cctagtgagc cctctggctc tgggagcccc tatctcagga
5101 attttcaggg tcatttgtga cttttcattt cttaaaacct gaaatagact ctcttagaaa
5161 caagtgactc cttcccagtg gccaaaactt aatcatcaga gcgcttcctt cagttcctca
5221 cccatcagcc agtgggctct ccaaagttaa ccaacagctc cctcttgtgg ttcactaaaa
5281 aacttggtta ttccatggag ttgtgcaaag ctatggcttc cttggtgcaa tattcttaaa
5341 acctgctttg catagaaatc acttttgccc aggctggagt gcagtggcgt gatctcggct
5401 catggcaatc tccatctccc gggttcaagc gattttcctg cctcagcctc cccagtagct
5461 gggactacag acgtgtgcca ccacgcctgg ctaaatcttt tttgtatttt attttagtag
5521 agacggggtt tcaccatact ggccaggctg ctctcgaact cctgacctca tcgtccacct
5581 gcctcggcct ccccaaagtg ctgagattag gcgttagcca ccgcgcccgg ccagaaatca
5641 cttttatatt gtcacatggg ccctctgcac agagtccgat ggctcctccc ggggaagcct
5701 gattttgtga cgtgtgtata gtaaatgcag gccctctggc agcaccataa ttggtcggtt
5761 accctgagcc cagagctctg aaagcatctg tggaatgatc acgggaccct tctcctctga
5821 gaaggctccc ggctgcctcc ccgccaccga gcttgtagcc tgaatgcctg gctgtcgcat
5881 ggagcatttt gcttctgggg tgtcttcctt agccaaaggg aacgtgtcat ttgctcgacc
5941 ctggcccacc cttgccgccc agctgttgtg ctgggcacag tctggggcac aggcctccat
6001 gatgaagacg cgtgggctgt cggtgctttc atccgtcaca aactggcacc tgtacctgcc
6061 agcaggagca tgatggggac ttccatgctg gaattgctcc ctgattaaaa tgagatatgg
6121 ctatttggaa gacactgcat tttagccagt gtacctgggc acagactcgg ggctgccctg
6181 aagctgatga aggcttgaag gacggaaggg ctgagccaca tgaaggcagc actcagggcc
6241 aggggagaga gaagaggatc agcagtgcag ccccaggatg cctcgcagac gtgccttctg
6301 ccatgattgt gaagttctag ccacgtggaa ctctctcgga agaactggtt gttaaagagc
6361 acctctgcct tcttcctctg ttgccatgtg atctctgcac acgctagctc tccttcgcct
6421 tctgccatgc tggaagtagc ctgaggccct caccagaagc agacgctggc accgtgctgc
6481 ttgtacagcc tgcagagccg tgagccaagt aaacctcttt aattacccag cctcaggtgc
6541 tccgggaacg ccttccgcgg aatgaagcgg cccatgccct tgttgacgtt gatgtttccg
6601 tcttcaaaga cgatcttgcc ctggctgatg accactagtg gggagccgtg gcactccata
6661 ccctcgaaga tgttgtactc caccgcctgc accaacagcc tcagcgttac ttcccaggat
6721 ttgctctgcc ccaaacgagc tgttcataac agcgattttg cctaacatta tatcataagc
6781 gtgttccaat gttttttttt ctctctaaaa atacctttta ttgactgtaa tattccactg
6841 tatggtccac agtgtatata accaacaact caccgttgcg catgtaggct gccggtggct
6901 ttctataatc aaatcaatat tgttctgggg catcacaaag aggaaggggg tcccccnggg
6961 gttatgcaat gtggctgctt tgactgtact ggacataaaa ataagtaaaa tgttcttcat
7021 tttacttaaa atgtgtcttt aaataaaatt tttttctcta ggtt
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