LOCUS       NM_004744               4901 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens lecithin retinol acyltransferase (LRAT), transcript
            variant 1, mRNA.
ACCESSION   NM_004744
VERSION     NM_004744.5
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 4901)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 4901)
  AUTHORS   Senechal,A., Humbert,G., Surget,M.O., Bazalgette,C., Bazalgette,C.,
            Arnaud,B., Arndt,C., Laurent,E., Brabet,P. and Hamel,C.P.
  TITLE     Screening genes of the retinoid metabolism: novel LRAT mutation in
            leber congenital amaurosis
  JOURNAL   Am J Ophthalmol 142 (4), 702-704 (2006)
   PUBMED   17011878
  REMARK    GeneRIF: The phenotype of patients with mutations in LRAT is
            similar to that of patients with mutations in RPE65, suggesting the
            need to systematically screen both genes in case of typical
            phenotype.
REFERENCE   3  (bases 1 to 4901)
  AUTHORS   Zolfaghari,R. and Ross,A.C.
  TITLE     Cloning, gene organization and identification of an alternative
            splicing process in lecithin:retinol acyltransferase cDNA from
            human liver
  JOURNAL   Gene 341, 181-188 (2004)
   PUBMED   15474300
  REMARK    GeneRIF: Results provide evidence that multiple LRAT mRNA
            transcripts, which are expressed in a tissue-specific manner, may
            result from differential splicing of the 5'UTR region and the use
            of multiple polyadenylation signals in the 3'UTR.
REFERENCE   4  (bases 1 to 4901)
  AUTHORS   Thompson,D.A., Li,Y., McHenry,C.L., Carlson,T.J., Ding,X.,
            Sieving,P.A., Apfelstedt-Sylla,E. and Gal,A.
  TITLE     Mutations in the gene encoding lecithin retinol acyltransferase are
            associated with early-onset severe retinal dystrophy
  JOURNAL   Nat Genet 28 (2), 123-124 (2001)
   PUBMED   11381255
REFERENCE   5  (bases 1 to 4901)
  AUTHORS   Ruiz,A., Kuehn,M.H., Andorf,J.L., Stone,E., Hageman,G.S. and Bok,D.
  TITLE     Genomic organization and mutation analysis of the gene encoding
            lecithin retinol acyltransferase in human retinal pigment
            epithelium
  JOURNAL   Invest Ophthalmol Vis Sci 42 (1), 31-37 (2001)
   PUBMED   11133845
REFERENCE   6  (bases 1 to 4901)
  AUTHORS   Ruiz,A., Winston,A., Lim,Y.H., Gilbert,B.A., Rando,R.R. and Bok,D.
  TITLE     Molecular and biochemical characterization of lecithin retinol
            acyltransferase
  JOURNAL   J Biol Chem 274 (6), 3834-3841 (1999)
   PUBMED   9920938
REFERENCE   7  (bases 1 to 4901)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   8  (bases 1 to 4901)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   9  (bases 1 to 4901)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
REFERENCE   10 (bases 1 to 4901)
  AUTHORS   Herr,F.M. and Ong,D.E.
  TITLE     Differential interaction of lecithin-retinol acyltransferase with
            cellular retinol binding proteins
  JOURNAL   Biochemistry 31 (29), 6748-6755 (1992)
   PUBMED   1322170
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292598.1, AY546086.1,
            DB364008.1 and AC009567.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_004744.4.
            
            Summary: The protein encoded by this gene localizes to the
            endoplasmic reticulum, where it catalyzes the esterification of
            all-trans-retinol into all-trans-retinyl ester. This reaction is an
            important step in vitamin A metabolism in the visual system.
            Mutations in this gene have been associated with early-onset severe
            retinal dystrophy and Leber congenital amaurosis 14. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Aug 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: AY546086.1, AF071510.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145313, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336356.4/ ENSP00000337224.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AK292598.1         30-40
            12-4893             AY546086.1         12-4893
            4894-4900           DB364008.1         1-7                 c
            4901-4901           AC009567.8         134874-134874       c
FEATURES             Location/Qualifiers
     source          1..4901
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..4901
                     /gene="LRAT"
                     /gene_synonym="LCA14"
                     /note="lecithin retinol acyltransferase"
                     /db_xref="GeneID:9227"
                     /db_xref="HGNC:HGNC:6685"
                     /db_xref="MIM:604863"
     exon            1..223
                     /gene="LRAT"
                     /gene_synonym="LCA14"
                     /inference="alignment:Splign:2.1.0"
     exon            224..764
                     /gene="LRAT"
                     /gene_synonym="LCA14"
                     /inference="alignment:Splign:2.1.0"
     CDS             225..917
                     /gene="LRAT"
                     /gene_synonym="LCA14"
                     /EC_number="2.3.1.135"
                     /note="lecithin retinol acyltransferase
                     (phosphatidylcholine--retinol O-acyltransferase)"
                     /codon_start=1
                     /product="lecithin retinol acyltransferase precursor"
                     /protein_id="NP_004735.2"
                     /db_xref="CCDS:CCDS3789.1"
                     /db_xref="GeneID:9227"
                     /db_xref="HGNC:HGNC:6685"
                     /db_xref="MIM:604863"
                     /translation="MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSS
                     FHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLALTDDMGRTQKVVSNKRLILGVI
                     VKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
                     CEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLP
                     AIFIPFFLWMAG"
     exon            765..4901
                     /gene="LRAT"
                     /gene_synonym="LCA14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2060..2065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRAT"
                     /gene_synonym="LCA14"
                     /note="hexamer: AATAAA"
     polyA_site      2079
                     /gene="LRAT"
                     /gene_synonym="LCA14"
     regulatory      4879..4884
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRAT"
                     /gene_synonym="LCA14"
                     /note="hexamer: AATAAA"
     polyA_site      4901
                     /gene="LRAT"
                     /gene_synonym="LCA14"
                     /note="major polyA site"
ORIGIN      
        1 gagcaccgcg cgcggccctg cccccggcac ggcccccagg tgcgctcctt ctccggctgc
       61 ttgtagcact ggtctcactg tccccgccgt cagccaccgg ttccttatcc gtctcattcc
      121 ccattgtggc ttggctgagc cggtcgccag gcctcgctgt cctcctttgc cttcctctct
      181 cctcagcggc cgtactttgc gccgtacctc acctggcctg caggatgaag aaccccatgc
      241 tggaggtggt gtctttacta ctggagaagc tgctcctcat ctccaacttc acgctcttta
      301 gttcgggcgc cgcgggcgaa gacaaaggga ggaacagttt ttatgaaacc agctctttcc
      361 accgaggcga cgtgctggag gtgccccgga cccacctgac ccactatggc atctacctag
      421 gagacaaccg tgttgcccac atgatgcccg acatcctgtt ggccctgaca gacgacatgg
      481 ggcgcacgca gaaggtggtc tccaacaagc gtctcatcct gggcgttatt gtcaaagtgg
      541 ccagcatccg cgtggacaca gtggaggact tcgcctacgg agctaacatc ctggtcaatc
      601 acctggacga gtccctccag aaaaaggcac tgctcaacga ggaggtggcg cggagggctg
      661 aaaagctgct gggctttacc ccctacagcc tgctgtggaa caactgcgag cacttcgtga
      721 cctactgcag atatggcacc ccgatcagtc cccagtccga caagttttgt gagactgtga
      781 agataattat tcgtgatcag agaagtgttc ttgcttcagc agtcttggga ttggcgtcta
      841 tagtctgtac gggcttggta tcatacacta cccttcctgc aatttttatt ccattcttcc
      901 tatggatggc tggctaactt cataccccca tgtcagtgtg tgtattctgt atgtaaatat
      961 gtttatattt atagagcatc aatcaatata agcattattg agaaaaatgt gacccgtaac
     1021 actgtgttct ggataaaaat gtgattagga atcacgcaaa gtgcttactg tgtaagccca
     1081 agaacaaagg ctttctgaat cttctcaggc agttcagatt taaagcacca tccaaacctt
     1141 ggaaatacga cagggtgtgg tagaattcag caatatgaga aaaccagccc ctaaaatgat
     1201 agccacaaga gattaattgt gttttttttt ctcctgtaat ccttgtactg ttcggctgaa
     1261 tttgaagatt ggaagactta tattgagacc agtaacttta ctgtaaattt actttgtttc
     1321 attgaaaaaa caaattgata aacatattaa actggaagaa ttttctttat tcaaatgaaa
     1381 acatgtttga tgactggtca aaaaataagc tcataatcta tttttttcat gtagtatata
     1441 agtcaagaat gttttattgt cattatgtga aaccaatatt ggcaaatagt actttaatga
     1501 tgaagtaaat gaccagaaat tatagaaatc tgtgttttcc tgtaaaaata gcactatagt
     1561 atcacttgaa caatttgatt tggctttact tactaggaag cctggaattc attatttttt
     1621 tccttttatg tgccactgtg gctactttaa atcactctga gaggtaaatg gatataggat
     1681 tgaagttatg tgggtatttg gcatgtgtgt gtgaaataaa tatgtagata gtcacatata
     1741 cacagactga gagataaatt gttcttgatt gctttattat catcatacta gtgtgttcat
     1801 tatagagtat ctgtagaggt gaatgtaaaa gtaagtccaa tctattttct tatgtcattg
     1861 aatttgtagt gttaacttgc atatatgtta ttggatgggt tgtcttttaa agcatttact
     1921 aatgtactct gaaattttta aaagccttca gatttgtttt ctagtcactt ttttccatat
     1981 catttctaat tatagtttat atccttaaaa gaaggatgcc acagtagtat gtaaaaccca
     2041 aacaagtaga acccaagcaa ataaaattat ttaaaataat tttaaagtgg cttagtactg
     2101 ccagtcatgt aaattgattc tgctgagggt cttataagaa ttgagatata acaatggtaa
     2161 aacaagcatt caagcacttt tacaaaatta ccaaattctt aaaatgaagc cacagctaga
     2221 cttgcatttc aggtattaaa attgctttct taactgtcaa gaatcacaaa ataacaaatc
     2281 atattatgag tgaatatggg gagggcgggg ccaatcagtc aatgataatc tgaacaaatt
     2341 ttaagagcag attttagatt aataatgttt tatcaccact aatttgccca caacaaactc
     2401 agtatttaat ttttcaaatt aaatattaaa ttatttaagt attttaaata attaaaacat
     2461 taaatggcaa caccatagaa tataggtgtt ctctggacct attctaacca cttaaaatta
     2521 tcttaagtat gcatacataa aagcaaccac tatgagaact accgtgttag tggtttttca
     2581 cttactgtat attacccttg taggaatagt ttaaggaaat tcatttctta aaaatatagt
     2641 gtcctcaaat aattaatttt tttgcaaact ttagttatta caggcagcaa aaaccactgt
     2701 ctgaaactaa atctgtgttc aaagatgaag acccctcatt aaaagccaag gacgttctta
     2761 agattggaac tgacataatt agtcttgact tacttcatta aagcaagatt caattccttg
     2821 ttcatttgag tgttcattat atgccaggca ttgaccagtt gcaattttat ggtccagaat
     2881 taatattatt attcgtaaac tagctataat agagtatata cagtgctgtg ggaatacagg
     2941 ggaagaagca attaaatctg ctagaagggt aagagaaatc tgtatgcagg aggcaatgct
     3001 agcattaagc caagaaatag tgtgaggtga tcttatcaca ctgatgtgtt caactgttta
     3061 tgggaaaagg aaactaggat ggttttattt gtgaaatgtt ctacaacgct agaactgttg
     3121 aacttcttgg gagaaaagga gaatctttgt tttgttgtgc tgagtttgat tagttgctta
     3181 accaagtaga aagaaaagca catcttcctg atcacagtta taaaagaaac cctgaggccg
     3241 ggcgcggtgg ctcaagcctg taaccccagc actttgggag gccaaggagg gaggatcaca
     3301 aggtcaggag atcgagacca tcctggctaa cacggtgaaa ccccatctct actaaaaata
     3361 caaaattagc tgggcgtggt ggccggcgcc tgtagtccca gctactcatg aggttgaggc
     3421 aggagaatgg cgtgaaccga ggaggcggag cttgcagtga gtggaaattg cgccactgca
     3481 ctccagcctg ggcaacaaag tgagactcca tctcaaaaaa aaaaaaaaaa aaaaaaaaaa
     3541 aaaaagaaga agaaaccctg agccattaat gtgtctcgta acttgaggaa gttcatgaat
     3601 tctctgggct tcatccatta agattcatcc ttatgctcct gcaagtttct tatatttatg
     3661 tatttctatt ctgatttctg aaatgataac ctagtagtgt ctgatgaagt tttttcatgc
     3721 ttattttatt ctttgtcaca gatgaaagaa gaataggact aattggggct aagatgaatt
     3781 aatgtaagtg tcagatacta ggcaggtgtt agggatgaaa tgatgaatga ggcatggacc
     3841 tgttcctcag agtttatggc ccagtagaca taattgtatt aggactttct gcagttgaca
     3901 tttgcataaa gctgactgac tgaaggaaca gaaagtgaga cagacagata tgaccaaatt
     3961 tatacaaacc atgtaccaac acttgaaaga tgggtggata ttttccagga aacagatttt
     4021 gggcaggaca ttccatgcac tggaaatagc atgaacaaat gcatgaaaat tgcctacaac
     4081 atgcctggca catagctgtg aggtacccta tgagttgttg acttgaaaac atggaactgc
     4141 acagggcatt caggcaagtg caagtggttc aggggccagc gcagagcaga gtgctgagta
     4201 aagatgtcag aaaaggaaag caatggtctg gtacaagtct tgtatagaac aagaagttta
     4261 gacttttgaa caggcaatcg agatttgggg ttcagaaaga taaatcccaa aagtatggag
     4321 aacaaaggaa ctcattttaa aggactagct aagatgctca atctctaaaa aaaaaaggat
     4381 ctgtattcgt gagagtagag agaaaggttg tttaggaaga gtcaacagac tttagcaaaa
     4441 tccttttatt tgattcatgc ataactcctg atggagtgtc aaggaagact cattcacttt
     4501 tctttcctgc cagaaagttg gttcttgcaa aatagattaa cttgatgact atgtgtatat
     4561 tggatactcc taattttagc tctgttagat atgtttcttt ctaaggacaa gcaactatgt
     4621 atagacttgt tgtttgaatt ttttttcagt atatatatgt ttcttgtttt tctatttttc
     4681 tacttcatac tgttaatgtc aaatatcaaa aatgttttcc agcaatatca agttatggca
     4741 atggcaaaag tccttgttgt agatgagaag catataagaa atggttgcca atctttgttt
     4801 tgtatgatct atttagagtt ttaaccaacc tagatctgtc agctaagcta attttatatt
     4861 tggtatacat gcatgtcaaa taaagttaat tttacatact a
//
