LOCUS HUMMEVKIN 1967 bp mRNA linear HUM 03-JUN-1993
DEFINITION Homo sapiens mevalonate kinase mRNA, complete cds.
ACCESSION M88468
VERSION M88468.1
KEYWORDS mevalonate kinase.
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 1967)
AUTHORS Schafer,B.L., Bishop,R.W., Kratunis,V.J., Kalinowski,S.S.,
Mosley,S.T., Gibson,K.M. and Tanaka,R.D.
TITLE Molecular cloning of human mevalonate kinase and identification of
a missense mutation in the genetic disease mevalonic aciduria
JOURNAL J. Biol. Chem. 267 (19), 13229-13238 (1992)
PUBMED 1377680
COMMENT On Jul 26, 1993 this sequence version replaced gi:187560.
Original source text: Homo sapiens young male skin cDNA to mRNA.
FEATURES Location/Qualifiers
source 1..1967
/db_xref="H-InvDB:HIT000196711"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/sex="young male"
/cell_type="fibroblast"
/tissue_type="skin"
5'UTR 1..91
CDS 92..1282
/EC_number="2.7.1.36"
/codon_start=1
/product="mevalonate kinase"
/protein_id="AAB59362.1"
/translation="MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPH
SNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCA
VTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV
CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQ
GKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECE
RVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGA
GGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQA
LDGL"
variation 993
/note="'mevalonic aciduria missense mutation'; 'C' in
mutation"
/replace=""
3'UTR 1283..1967
regulatory 1946
/regulatory_class="polyA_signal_sequence"
BASE COUNT 380 a 601 c 597 g 389 t
ORIGIN
1 caaaacaaaa ggtagtgggg agctgctccg gcttcggcgc ggaggggcgg cggccgggga
61 ggcggcggcg gcggcaggat tcccaggagc catgttgtca gaagtcctac tggtgtctgc
121 tccggggaaa gtcatccttc atggagaaca tgccgtggta catggcaagg tagcactggc
181 tgtatccttg aacttgagaa cattcctccg gcttcaaccc cacagcaatg ggaaagtgga
241 cctcagctta cccaacattg gtatcaagcg ggcctgggat gtggccaggc ttcagtcact
301 ggacacaagc tttctggagc aaggtgatgt cacaacaccc acctcagagc aagtggagaa
361 gctaaaggag gttgcaggct tgcctgacga ctgtgctgtc accgagcgcc tggctgtgct
421 ggcctttctt tacttatacc tgtccatctg ccggaagcag agggccctgc cgagcctgga
481 tatcgtagtg tggtcggagc tgccccccgg ggcgggcttg ggctccagcg ccgcctactc
541 ggtgtgtctg gcagcagccc tcctgactgt gtgcgaggag atcccaaacc cgctgaagga
601 cggggattgc gtcaacaggt ggaccaagga ggatttggag ctaattaaca agtgggcctt
661 ccaaggggag agaatgattc acgggaaccc ctccggagtg gacaatgctg tcagcacctg
721 gggaggagcc ctccgatacc atcaagggaa gatttcatcc ttaaagaggt cgccagctct
781 ccagatcctg ctgaccaaca ccaaagtccc tcgcaatacc agggcccttg tggctggcgt
841 cagaaacagg ctgctcaagt tcccagagat cgtggccccc ctcctgacct caatagatgc
901 catctccctg gagtgtgagc gcgtgctggg agagatgggg gaagccccag ccccggagca
961 gtacctcgtg ctggaagagc tcattgacat gaaccagcac catctgaatg ccctcggcgt
1021 gggccacgcc tctctggacc agctctgcca ggtgaccagg gcccgcggac ttcacagcaa
1081 gctgactggc gcaggcggtg gtggctgtgg catcacactc ctcaagccag ggctggagca
1141 gccagaagtg gaggccacga agcaggccct gaccagctgt ggctttgact gcttggaaac
1201 cagcatcggt gcccccggcg tctccatcca ctcagccacc tccctggaca gccgagtcca
1261 gcaagccctg gatggcctct gagaggagcc cacgacactg cagccccacc cagatgcccc
1321 tttctggatt attctggggg ctgcagttcg actctgtgct ggccagcgag cgcccagctc
1381 ctgacactgc tggagaggcc ccagccgctt ggcgatgcca gccaagctct gcagtcccag
1441 cggtgggacc tagggaggca tggtctgccc tctgcatcct ctggagccag ccgagcagga
1501 ggcctaggag ggtcctctga gactccagac ctgaggcgag aagggctgct tccctgaagc
1561 tcccacagtc ccatctgctt caggcccccg ccttggcctg tgttcttcct ggccgcctgg
1621 gtccaatgct caggtgctgg ggcctggttc ccggagaagt gtgccttctc tctccctttt
1681 cagggacggc cccctgtctc tcagggccag gcctctccct cctccaggaa gccttcccct
1741 accccttgtc gcccctccct cccagagcac ctgctgtctg ggtggctcac tcagcacttg
1801 gcccttctac ctagcgggat ggggctcccc caggggctgt cccggaggcg gtgggcctgg
1861 ttaaataagg cagtgtggcc ttggtttata tgcactttct tccgatctgt acctgagagg
1921 tttgtggaaa agatggcaaa tggggaataa aaagattttg tgtcaac
//