LOCUS       NM_000229               1496 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.
ACCESSION   NM_000229
VERSION     NM_000229.2
KEYWORDS    RefSeq; MANE Select.
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 1496)
  AUTHORS   Stadler,J.T., Barnthaler,T., Borenich,A., Emrich,I.E., Habisch,H.,
            Rani,A., Holzer,M., Madl,T., Heine,G.H. and Marsche,G.
  TITLE     Low LCAT activity is linked to acute decompensated heart failure
            and mortality in patients with CKD
  JOURNAL   J Lipid Res 65 (9), 100624 (2024)
   PUBMED   39154733
  REMARK    GeneRIF: Low LCAT activity is linked to acute decompensated heart
            failure and mortality in patients with CKD.
REFERENCE   2  (bases 1 to 1496)
  AUTHORS   Khellaf,G., Benziane,A., Kaci,L., Missoum,S., Lahmar,M. and
            Benabadji,M.
  TITLE     Rapidly progressive renal failure to reveal LCAT deficiency in an
            Algerian family
  JOURNAL   Clin Nephrol 99 (2), 92-97 (2023)
   PUBMED   36420900
  REMARK    GeneRIF: Rapidly progressive renal failure to reveal LCAT
            deficiency in an Algerian family.
REFERENCE   3  (bases 1 to 1496)
  AUTHORS   Pavanello,C., Ossoli,A., Strazzella,A., Rise,P., Veglia,F.,
            Lhomme,M., Parini,P. and Calabresi,L.
  TITLE     Plasma FA composition in familial LCAT deficiency indicates
            SOAT2-derived cholesteryl ester formation in humans
  JOURNAL   J Lipid Res 63 (7), 100232 (2022)
   PUBMED   35598637
  REMARK    GeneRIF: Plasma FA composition in familial LCAT deficiency
            indicates SOAT2-derived cholesteryl ester formation in humans.
REFERENCE   4  (bases 1 to 1496)
  AUTHORS   Mehta,R., Elias-Lopez,D., Martagon,A.J., Perez-Mendez,O.A.,
            Sanchez,M.L.O., Segura,Y., Tusie,M.T. and Aguilar-Salinas,C.A.
  TITLE     LCAT deficiency: a systematic review with the clinical and genetic
            description of Mexican kindred
  JOURNAL   Lipids Health Dis 20 (1), 70 (2021)
   PUBMED   34256778
  REMARK    GeneRIF: LCAT deficiency: a systematic review with the clinical and
            genetic description of Mexican kindred.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1496)
  AUTHORS   Shao,B., Mathew,A.V., Thornock,C. and Pennathur,S.
  CONSRTM   Michigan Kidney Translational Core CPROBE Investigator Group
  TITLE     Altered HDL proteome predicts incident CVD in chronic kidney
            disease patients
  JOURNAL   J Lipid Res 62, 100135 (2021)
   PUBMED   34634315
  REMARK    GeneRIF: Altered HDL proteome predicts incident CVD in chronic
            kidney disease patients.
REFERENCE   6  (bases 1 to 1496)
  AUTHORS   Cogan,D.G., Kruth,H.S., Datilis,M.B. and Martin,N.
  TITLE     Corneal opacity in LCAT disease
  JOURNAL   Cornea 11 (6), 595-599 (1992)
   PUBMED   1468226
REFERENCE   7  (bases 1 to 1496)
  AUTHORS   Skretting,G., Blomhoff,J.P., Solheim,J. and Prydz,H.
  TITLE     The genetic defect of the original Norwegian lecithin:cholesterol
            acyltransferase deficiency families
  JOURNAL   FEBS Lett 309 (3), 307-310 (1992)
   PUBMED   1516702
REFERENCE   8  (bases 1 to 1496)
  AUTHORS   Furukawa,Y., Urano,T., Hida,Y., Itoh,H., Takahashi,C. and Kimura,S.
  TITLE     Interaction of rat lecithin-cholesterol acyltransferase with rat
            apolipoprotein A-I and with lecithin-cholesterol vesicles
  JOURNAL   J Biochem 111 (3), 413-418 (1992)
   PUBMED   1587806
REFERENCE   9  (bases 1 to 1496)
  AUTHORS   Skretting,G. and Prydz,H.
  TITLE     An amino acid exchange in exon I of the human lecithin: cholesterol
            acyltransferase (LCAT) gene is associated with fish eye disease
  JOURNAL   Biochem Biophys Res Commun 182 (2), 583-587 (1992)
   PUBMED   1571050
  REMARK    Erratum:[Biochem Biophys Res Commun 1992 Apr 15;184(1):549]
REFERENCE   10 (bases 1 to 1496)
  AUTHORS   Teisberg,P., Gjone,E. and Olaisen,B.
  TITLE     Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency
  JOURNAL   Ann Hum Genet 38 (3), 327-331 (1975)
   PUBMED   806250
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC040162.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000229.1.
            
            Summary: This gene 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. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M12625.1, SRR1803612.27646.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2155371
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264005.10/ ENSP00000264005.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-173               AC040162.5         71757-71929
            174-330             AC040162.5         72665-72821
            331-446             AC040162.5         72901-73016
            447-542             AC040162.5         73111-73206
            543-767             AC040162.5         73290-73514
            768-1496            AC040162.5         75399-76127
FEATURES             Location/Qualifiers
     source          1..1496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..1496
                     /gene="LCAT"
                     /note="lecithin-cholesterol acyltransferase"
                     /db_xref="GeneID:3931"
                     /db_xref="HGNC:HGNC:6522"
                     /db_xref="MIM:606967"
     exon            1..173
                     /gene="LCAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1342
                     /gene="LCAT"
                     /EC_number="2.3.1.43"
                     /EC_number="3.1.1.47"
                     /note="phosphatidylcholine-sterol acyltransferase;
                     phospholipid-cholesterol acyltransferase;
                     phosphatidylcholine--sterol O-acyltransferase; testicular
                     secretory protein Li 24; PAF acetylhydrolase;
                     platelet-activating factor acetylhydrolase;
                     1-alkyl-2-acetylglycerophosphocholine esterase"
                     /codon_start=1
                     /product="phosphatidylcholine-sterol acyltransferase
                     precursor"
                     /protein_id="NP_000220.1"
                     /db_xref="CCDS:CCDS10854.1"
                     /db_xref="GeneID:3931"
                     /db_xref="HGNC:HGNC:6522"
                     /db_xref="MIM:606967"
                     /translation="MGPPGSPWQWVTLLLGLLLPPAAPFWLLNVLFPPHTTPKAELSN
                     HTRPVILVPGCLGNQLEAKLDKPDVVNWMCYRKTEDFFTIWLDLNMFLPLGVDCWIDN
                     TRVVYNRSSGLVSNAPGVQIRVPGFGKTYSVEYLDSSKLAGYLHTLVQNLVNNGYVRD
                     ETVRAAPYDWRLEPGQQEEYYRKLAGLVEEMHAAYGKPVFLIGHSLGCLHLLYFLLRQ
                     PQAWKDRFIDGFISLGAPWGGSIKPMLVLASGDNQGIPIMSSIKLKEEQRITTTSPWM
                     FPSRMAWPEDHVFISTPSFNYTGRDFQRFFADLHFEEGWYMWLQSRDLLAGLPAPGVE
                     VYCLYGVGLPTPRTYIYDHGFPYTDPVGVLYEDGDDTVATRSTELCGLWQGRQPQPVH
                     LLPLHGIQHLNMVFSNLTLEHINAILLGAYRQGPPASPTASPEPPPPE"
     exon            174..330
                     /gene="LCAT"
                     /inference="alignment:Splign:2.1.0"
     exon            331..446
                     /gene="LCAT"
                     /inference="alignment:Splign:2.1.0"
     exon            447..542
                     /gene="LCAT"
                     /inference="alignment:Splign:2.1.0"
     exon            543..767
                     /gene="LCAT"
                     /inference="alignment:Splign:2.1.0"
     exon            768..1496
                     /gene="LCAT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1338..1343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LCAT"
                     /note="hexamer: AATAAA"
     polyA_site      1364
                     /gene="LCAT"
                     /note="major polyA site"
ORIGIN      
        1 agtaggcacc agggctggaa tggggccgcc cggctcccca tggcagtggg tgacgctgct
       61 gctggggctg ctgctccctc ctgccgcccc cttctggctc ctcaatgtgc tcttcccccc
      121 gcacaccacg cccaaggctg agctcagtaa ccacacacgg cccgtcatcc tcgtgcccgg
      181 ctgcctgggg aatcagctag aagccaagct ggacaaacca gatgtggtga actggatgtg
      241 ctaccgcaag acagaggact tcttcaccat ctggctggat ctcaacatgt tcctacccct
      301 tggggtagac tgctggatcg ataacaccag ggttgtctac aaccggagct ctgggctcgt
      361 gtccaacgcc cctggtgtcc agatccgcgt ccctggcttt ggcaagacct actctgtgga
      421 gtacctggac agcagcaagc tggcagggta cctgcacaca ctggtgcaga acctggtcaa
      481 caatggctac gtgcgggacg agactgtgcg cgccgccccc tatgactggc ggctggagcc
      541 cggccagcag gaggagtact accgcaagct cgcagggctg gtggaggaga tgcacgctgc
      601 ctatgggaag cctgtcttcc tcattggcca cagcctcggc tgtctacact tgctctattt
      661 cctgctgcgc cagccccagg cctggaagga ccgctttatt gatggcttca tctctcttgg
      721 ggctccctgg ggtggctcca tcaagcccat gctggtcttg gcctcaggtg acaaccaggg
      781 catccccatc atgtccagca tcaagctgaa agaggagcag cgcataacca ccacctcccc
      841 ctggatgttt ccctctcgca tggcgtggcc tgaggaccac gtgttcattt ccacacccag
      901 cttcaactac acaggccgtg acttccaacg cttctttgca gacctgcact ttgaggaagg
      961 ctggtacatg tggctgcagt cacgtgacct cctggcagga ctcccagcac ctggtgtgga
     1021 agtatactgt ctttacggcg tgggcctgcc cacgccccgc acctacatct acgaccacgg
     1081 cttcccctac acggaccctg tgggtgtgct ctatgaggat ggtgatgaca cggtggcgac
     1141 ccgcagcacc gagctctgtg gcctgtggca gggccgccag ccacagcctg tgcacctgct
     1201 gcccctgcac gggatacagc atctcaacat ggtcttcagc aacctgaccc tggagcacat
     1261 caatgccatc ctgctgggtg cctaccgcca gggtccccct gcatccccga ctgccagccc
     1321 agagcccccg cctcctgaat aaagaccttc ctttgctacc gtaagccctg atggctatgt
     1381 ttcaggttga agggaggcac tagagtccca cactaggttt cactcctcac cagccacagg
     1441 ctcagtgctg tgtgcagtga ggcaagatgg gctctgctga ggcctgggac tgagct
//
