LOCUS       NM_000229               1354 bp    mRNA    linear   PRI 30-MAY-2002
DEFINITION  Homo sapiens lecithin-cholesterol acyltransferase (LCAT), nuclear
            gene encoding mitochondrial protein, mRNA.
ACCESSION   NM_000229
VERSION     NM_000229.1  GI:4557891
KEYWORDS    .
SOURCE      human.
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1354)
  AUTHORS   McLean J, Fielding C, Drayna D, Dieplinger H, Baer B, Kohr W,
            Henzel W and Lawn R.
  TITLE     Cloning and expression of human lecithin-cholesterol
            acyltransferase cDNA
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 83 (8), 2335-2339 (1986)
  MEDLINE   86205950
   PUBMED   3458198
REFERENCE   2  (bases 1 to 1354)
  AUTHORS   McLean,J., Wion,K., Drayna,D., Fielding,C. and Lawn,R.
  TITLE     Human lecithin-cholesterol acyltransferase gene: complete gene
            sequence and sites of expression
  JOURNAL   Nucleic Acids Res. 14 (23), 9397-9406 (1986)
  MEDLINE   87091568
   PUBMED   3797244
REFERENCE   3  (bases 1 to 1354)
  AUTHORS   Azoulay,M., Henry,I., Tata,F., Weil,D., Grzeschik,K.H.,
            Chaves,M.E., McIntyre,N., Williamson,R., Humphries,S.E. and
            Junien,C.
  TITLE     The structural gene for lecithin:cholesterol acyl transferase
            (LCAT) maps to 16q22
  JOURNAL   Ann. Hum. Genet. 51 (Pt 2), 129-136 (1987)
  MEDLINE   88048015
   PUBMED   3674753
REFERENCE   4  (bases 1 to 1354)
  AUTHORS   Rogne S, Skretting G, Larsen F, Myklebost O, Mevag B, Carlson LA,
            Holmquist L, Gjone E and Prydz H.
  TITLE     The isolation and characterisation of a cDNA clone for human
            lecithin:cholesterol acyl transferase and its use to analyse the
            genes in patients with LCAT deficiency and fish eye disease
  JOURNAL   Biochem. Biophys. Res. Commun. 148 (1), 161-169 (1987)
  MEDLINE   88049652
   PUBMED   2823801
REFERENCE   5  (bases 1 to 1354)
  AUTHORS   Tata F, Chaves ME, Markham AF, Scrace GD, Waterfield MD, McIntyre
            N, Williamson R and Humphries SE.
  TITLE     The isolation and characterisation of cDNA and genomic clones for
            human lecithin: cholesterol acyltransferase
  JOURNAL   Biochim. Biophys. Acta 910 (2), 142-148 (1987)
  MEDLINE   88050946
   PUBMED   2823898
REFERENCE   6  (bases 1 to 1354)
  AUTHORS   Maeda,E., Naka,Y., Matozaki,T., Sakuma,M., Akanuma,Y., Yoshino,G.
            and Kasuga,M.
  TITLE     Lecithin-cholesterol acyltransferase (LCAT) deficiency with a
            missense mutation in exon 6 of the LCAT gene
  JOURNAL   Biochem. Biophys. Res. Commun. 178 (2), 460-466 (1991)
  MEDLINE   91315467
   PUBMED   1859405
REFERENCE   7  (bases 1 to 1354)
  AUTHORS   Bujo H, Kusunoki J, Ogasawara M, Yamamoto T, Ohta Y, Shimada T,
            Saito Y and Yoshida S.
  TITLE     Molecular defect in familial lecithin:cholesterol acyltransferase
            (LCAT) deficiency: a single nucleotide insertion in LCAT gene
            causes a complete deficient type of the disease
  JOURNAL   Biochem. Biophys. Res. Commun. 181 (3), 933-940 (1991)
  MEDLINE   92109783
   PUBMED   1662503
REFERENCE   8  (bases 1 to 1354)
  AUTHORS   Kuivenhoven,J.A., Pritchard,H., Hill,J., Frohlich,J., Assmann,G.
            and Kastelein,J.
  TITLE     The molecular pathology of lecithin:cholesterol acyltransferase
            (LCAT) deficiency syndromes
  JOURNAL   J. Lipid Res. 38 (2), 191-205 (1997)
  MEDLINE   97218327
   PUBMED   9162740
REFERENCE   9  (bases 1 to 1354)
  AUTHORS   Cho,K.H. and Jonas,A.
  TITLE     A key point mutation (V156E) affects the structure and functions of
            human apolipoprotein A-I
  JOURNAL   J. Biol. Chem. 275 (35), 26821-26827 (2000)
  MEDLINE   20418048
   PUBMED   10858436
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M12625.1.
            Summary: LCAT encodes the extracellular cholesterol esterifying
            enzyme, lecithin-cholesterol acyltransferase.  The esterification
            of cholesterol is required for cholesterol transport. Mutations in
            this gene have been found to cause fish-eye disease as well as LCAT
            deficiency.
FEATURES             Location/Qualifiers
     source          1..1354
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..1354
                     /gene="LCAT"
                     /db_xref="LocusID:3931"
                     /db_xref="MIM:245900"
     CDS             12..1334
                     /gene="LCAT"
                     /EC_number="2.3.1.43"
                     /codon_start=1
                     /product="lecithin-cholesterol acyltransferase precursor"
                     /protein_id="NP_000220.1"
                     /db_xref="GI:4557892"
                     /db_xref="LocusID:3931"
                     /db_xref="MIM:245900"
                     /translation="MGPPGSPWQWVTLLLGLLLPPAAPFWLLNVLFPPHTTPKAELSN
                     HTRPVILVPGCLGNQLEAKLDKPDVVNWMCYRKTEDFFTIWLDLNMFLPLGVDCWIDN
                     TRVVYNRSSGLVSNAPGVQIRVPGFGKTYSVEYLDSSKLAGYLHTLVQNLVNNGYVRD
                     ETVRAAPYDWRLEPGQQEEYYRKLAGLVEEMHAAYGKPVFLIGHSLGCLHLLYFLLRQ
                     PQAWKDRFIDGFISLGAPWGGSIKPMLVLASGDNQGIPIMSSIKLKEEQRITTTSPWM
                     FPSRMAWPEDHVFISTPSFNYTGRDFQRFFADLHFEEGWYMWLQSRDLLAGLPAPGVE
                     VYCLYGVGLPTPRTYIYDHGFPYTDPVGVLYEDGDDTVATRSTELCGLWQGRQPQPVH
                     LLPLHGIQHLNMVFSNLTLEHINAILLGAYRQGPPASPTASPEPPPPE"
     sig_peptide     12..83
                     /gene="LCAT"
     mat_peptide     84..1331
                     /gene="LCAT"
                     /product="lecithin-cholesterol acyltransferase"
     misc_feature    252..1235
                     /gene="LCAT"
                     /note="LACT; Region: Lecithin:cholesterol acyltransferase"
                     /db_xref="CDD:pfam02450"
     variation       608
                     /gene="LCAT"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:5922"
     variation       911
                     /gene="LCAT"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:5924"
     variation       1188
                     /gene="LCAT"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:5923"
BASE COUNT      249 a    459 c    370 g    276 t
ORIGIN      
        1 ccagggctgg aatggggccg cccggctccc catggcagtg ggtgacgctg ctgctggggc
       61 tgctgctccc tcctgccgcc cccttctggc tcctcaatgt gctcttcccc ccgcacacca
      121 cgcccaaggc tgagctcagt aaccacacac ggcccgtcat cctcgtgccc ggctgcctgg
      181 ggaatcagct agaagccaag ctggacaaac cagatgtggt gaactggatg tgctaccgca
      241 agacagagga cttcttcacc atctggctgg atctcaacat gttcctaccc cttggggtag
      301 actgctggat cgataacacc agggttgtct acaaccggag ctctgggctc gtgtccaacg
      361 cccctggtgt ccagatccgc gtccctggct ttggcaagac ctactctgtg gagtacctgg
      421 acagcagcaa gctggcaggg tacctgcaca cactggtgca gaacctggtc aacaatggct
      481 acgtgcggga cgagactgtg cgcgccgccc cctatgactg gcggctggag cccggccagc
      541 aggaggagta ctaccgcaag ctcgcagggc tggtggagga gatgcacgct gcctatggga
      601 agcctgtctt cctcattggc cacagcctcg gctgtctaca cttgctctat ttcctgctgc
      661 gccagcccca ggcctggaag gaccgcttta ttgatggctt catctctctt ggggctccct
      721 ggggtggctc catcaagccc atgctggtct tggcctcagg tgacaaccag ggcatcccca
      781 tcatgtccag catcaagctg aaagaggagc agcgcataac caccacctcc ccctggatgt
      841 ttccctctcg catggcgtgg cctgaggacc acgtgttcat ttccacaccc agcttcaact
      901 acacaggccg tgacttccaa cgcttctttg cagacctgca ctttgaggaa ggctggtaca
      961 tgtggctgca gtcacgtgac ctcctggcag gactcccagc acctggtgtg gaagtatact
     1021 gtctttacgg cgtgggcctg cccacgcccc gcacctacat ctacgaccac ggcttcccct
     1081 acacggaccc tgtgggtgtg ctctatgagg atggtgatga cacggtggcg acccgcagca
     1141 ccgagctctg tggcctgtgg cagggccgcc agccacagcc tgtgcacctg ctgcccctgc
     1201 acgggataca gcatctcaac atggtcttca gcaacctgac cctggagcac atcaatgcca
     1261 tcctgctggg tgcctaccgc cagggtcccc ctgcatcccc gactgccagc ccagagcccc
     1321 cgcctcctga ataaagacct tcctttgcta ccgt
//
