LOCUS       NM_022821               1466 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript
            variant 1, mRNA.
ACCESSION   NM_022821 NM_016031
VERSION     NM_022821.4
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 1466)
  AUTHORS   Zhou,Y., Lv,R., Ye,R.D., Ren,R. and Yu,L.
  TITLE     The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with
            trans-2-enoyl-CoA reductase involved in substrates transfer in very
            long chain fatty acid elongation
  JOURNAL   Biochem Biophys Res Commun 704, 149588 (2024)
   PUBMED   38422897
REFERENCE   2  (bases 1 to 1466)
  AUTHORS   Mueller,N., Sassa,T., Morales-Gonzalez,S., Schneider,J.,
            Salchow,D.J., Seelow,D., Knierim,E., Stenzel,W., Kihara,A. and
            Schuelke,M.
  TITLE     De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans,
            hypomyelination, spastic paraplegia, high frequency deafness and
            optic atrophy
  JOURNAL   J Med Genet 56 (3), 164-175 (2019)
   PUBMED   30487246
  REMARK    GeneRIF: A dominant ELOVL1 mutation causes a neuro-ichthyotic
            disorder possibly amenable to treatment with PPAR-modulating drugs.
REFERENCE   3  (bases 1 to 1466)
  AUTHORS   Kutkowska-Kazmierczak,A., Rydzanicz,M., Chlebowski,A.,
            Klosowska-Kosicka,K., Mika,A., Gruchota,J., Jurkiewicz,E.,
            Kowalewski,C., Pollak,A., Stradomska,T.J., Kmiec,T., Jakubowski,R.,
            Gasperowicz,P., Walczak,A., Sladowski,D., Jankowska-Steifer,E.,
            Korniszewski,L., Kosinska,J., Obersztyn,E., Nowak,W.,
            Sledzinski,T., Dziembowski,A. and Ploski,R.
  TITLE     Dominant ELOVL1 mutation causes neurological disorder with
            ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic
            features
  JOURNAL   J Med Genet 55 (6), 408-414 (2018)
   PUBMED   29496980
  REMARK    GeneRIF: he ELOVL1 p.Ser165Phe mutation is a likely cause of
            ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI)
            and dysmorphic features (IKSHD).
REFERENCE   4  (bases 1 to 1466)
  AUTHORS   Schackmann,M.J., Ofman,R., Dijkstra,I.M., Wanders,R.J. and Kemp,S.
  TITLE     Enzymatic characterization of ELOVL1, a key enzyme in very
            long-chain fatty acid synthesis
  JOURNAL   Biochim Biophys Acta 1851 (2), 231-237 (2015)
   PUBMED   25499606
  REMARK    GeneRIF: ELOV1 promotes very long-chain fatty acid accumulation
            X-linked adrenoleukodystrophy and is inhibited by CoA esters of
            bezafibrate and gemfibrozil.
REFERENCE   5  (bases 1 to 1466)
  AUTHORS   Ohno,Y., Suto,S., Yamanaka,M., Mizutani,Y., Mitsutake,S.,
            Igarashi,Y., Sassa,T. and Kihara,A.
  TITLE     ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid
            synthesis
  JOURNAL   Proc Natl Acad Sci U S A 107 (43), 18439-18444 (2010)
   PUBMED   20937905
  REMARK    GeneRIF: ELOVL1 activity is regulated with the ceramide synthase
            CERS2, an enzyme essential for C24 sphingolipid synthesis.
REFERENCE   6  (bases 1 to 1466)
  AUTHORS   Ofman,R., Dijkstra,I.M., van Roermund,C.W., Burger,N.,
            Turkenburg,M., van Cruchten,A., van Engen,C.E., Wanders,R.J. and
            Kemp,S.
  TITLE     The role of ELOVL1 in very long-chain fatty acid homeostasis and
            X-linked adrenoleukodystrophy
  JOURNAL   EMBO Mol Med 2 (3), 90-97 (2010)
   PUBMED   20166112
  REMARK    GeneRIF: The authors identify ELOVL1 (elongation of
            very-long-chain-fatty acids) as the single elongase catalysing the
            synthesis of both saturated VLCFA (C26:0) and mono-unsaturated
            VLCFA (C26:1).
REFERENCE   7  (bases 1 to 1466)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   8  (bases 1 to 1466)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 1466)
  AUTHORS   Leonard,A.E., Bobik,E.G., Dorado,J., Kroeger,P.E., Chuang,L.T.,
            Thurmond,J.M., Parker-Barnes,J.M., Das,T., Huang,Y.S. and
            Mukerji,P.
  TITLE     Cloning of a human cDNA encoding a novel enzyme involved in the
            elongation of long-chain polyunsaturated fatty acids
  JOURNAL   Biochem J 350 Pt 3 (Pt 3), 765-770 (2000)
   PUBMED   10970790
REFERENCE   10 (bases 1 to 1466)
  AUTHORS   Lehner,R. and Kuksis,A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL537185.3, BC000618.2 and AA635780.1.
            
            On Nov 22, 2018 this sequence version replaced NM_022821.3.
            
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1). 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 :: AK222498.1, SRR3476690.108947.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372458.8/ ENSP00000361536.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-844               AL537185.3         18-861
            845-1465            BC000618.2         829-1449
            1466-1466           AA635780.1         10-10               c
FEATURES             Location/Qualifiers
     source          1..1466
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..1466
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /note="ELOVL fatty acid elongase 1"
                     /db_xref="GeneID:64834"
                     /db_xref="HGNC:HGNC:14418"
                     /db_xref="MIM:611813"
     exon            1..97
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /inference="alignment:Splign:2.1.0"
     exon            98..157
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..951
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /EC_number="2.3.1.199"
                     /note="isoform 1 is encoded by transcript variant 1;
                     elongation of very long chain fatty acids (FEN1/Elo2,
                     SUR4/Elo3, yeast)-like 1; elongation of very long chain
                     fatty acids protein 1; 3-keto acyl-CoA synthase ELOVL1;
                     ELOVL FA elongase 1; very long chain 3-oxoacyl-CoA
                     synthase 1; very long chain 3-ketoacyl-CoA synthase 1;
                     very long chain fatty acid elongase 1"
                     /codon_start=1
                     /product="very long chain fatty acid elongase 1 isoform 1"
                     /protein_id="NP_073732.1"
                     /db_xref="CCDS:CCDS485.1"
                     /db_xref="GeneID:64834"
                     /db_xref="HGNC:HGNC:14418"
                     /db_xref="MIM:611813"
                     /translation="MEAVVNLYQEVMKHADPRIQGYPLMGSPLLMTSILLTYVYFVLS
                     LGPRIMANRKPFQLRGFMIVYNFSLVALSLYIVYEFLMSGWLSTYTWRCDPVDYSNSP
                     EALRMVRVAWLFLFSKFIELMDTVIFILRKKDGQVTFLHVFHHSVLPWSWWWGVKIAP
                     GGMGSFHAMINSSVHVIMYLYYGLSAFGPVAQPYLWWKKHMTAIQLIQFVLVSLHISQ
                     YYFMSSCNYQYPVIIHLIWMYGTIFFMLFSNFWYHSYTKGKRLPRALQQNGAPGIAKV
                     KAN"
     exon            158..348
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /inference="alignment:Splign:2.1.0"
     exon            349..429
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /inference="alignment:Splign:2.1.0"
     exon            430..486
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /inference="alignment:Splign:2.1.0"
     exon            487..592
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /inference="alignment:Splign:2.1.0"
     exon            593..729
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /inference="alignment:Splign:2.1.0"
     exon            730..1466
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1444..1449
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /note="hexamer: ATTAAA"
     polyA_site      1466
                     /gene="ELOVL1"
                     /gene_synonym="CGI-88; IKSHD; Ssc1"
                     /note="major polyA site"
ORIGIN      
        1 agatgaggaa gtggcaggca ggcaggctgg ccccggggac ttctctctgg ccctgctccc
       61 tccgagcgct ccgccgttgc ccgcctggcc cctacggagt ccttagccag gatggaggct
      121 gttgtgaact tgtaccaaga ggtgatgaag cacgcagatc cccggatcca gggctaccct
      181 ctgatggggt cccccttgct aatgacctcc attctcctga cctacgtgta cttcgttctc
      241 tcacttgggc ctcgcatcat ggctaatcgg aagcccttcc agctccgtgg cttcatgatt
      301 gtctacaact tctcactggt ggcactctcc ctctacattg tctatgagtt cctgatgtcg
      361 ggctggctga gcacctatac ctggcgctgt gaccctgtgg actattccaa cagccctgag
      421 gcacttagga tggttcgggt ggcctggctc ttcctcttct ccaagttcat tgagctgatg
      481 gacacagtga tctttattct ccgaaagaaa gacgggcagg tgaccttcct acatgtcttc
      541 catcactctg tgcttccctg gagctggtgg tggggggtaa agattgcccc gggaggaatg
      601 ggctctttcc atgccatgat aaactcttcc gtgcatgtca taatgtacct gtactacgga
      661 ttatctgcct ttggccctgt ggcacaaccc tacctttggt ggaaaaagca catgacagcc
      721 attcagctga tccagtttgt cctggtctca ctgcacatct cccagtacta ctttatgtcc
      781 agctgtaact accagtaccc agtcattatt cacctcatct ggatgtatgg caccatcttc
      841 ttcatgctgt tctccaactt ctggtatcac tcttatacca agggcaagcg gctgccccgt
      901 gcacttcagc aaaatggagc tccaggtatt gccaaggtca aggccaactg agaagcatgg
      961 cctagatagg cgcccaccta agtgcctcag gactgcacct tagggcagtg tccgtcagtg
     1021 ccctctccac ctacacctgt gaccaaggct tatgtggtca ggactgagca ggggactggc
     1081 cctcccctcc ccacagctgc tctacaggga ccacggcttt ggttcctcac ccacttcccc
     1141 cgggcagctc cagggatgtg gcctcattgc tgtctgccac tccagagctg ggggctaaaa
     1201 gggctgtaca gttatttccc cctccctgcc ttaaaacttg ggagaggagc actcagggct
     1261 ggccccacaa agggtctcgt ggcctttttc ctcacacaga agaggtcagc aataatgtca
     1321 ctgtggaccc agtctcactc ctccacccca cacactgaag cagtagcttc tgggccaaag
     1381 gtcagggtgg gcgggggcct gggaatacag cctgtggagg ctgcttactc aacttgtgtc
     1441 ttaattaaaa gtgacagagg aaacca
//
