LOCUS       NM_022726               3013 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.
ACCESSION   NM_022726
VERSION     NM_022726.4
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 3013)
  AUTHORS   Nishide,M., Le Marquand,K., Davis,M.R., Halmagyi,G.M., Fellner,A.,
            Narayanan,R.K., Kennerson,M.L., Reddel,S.W., Worgan,L.,
            Panegyres,P.K. and Kumar,K.R.
  TITLE     Two New Families and a Literature Review of ELOVL4-Associated
            Spinocerebellar Ataxia Type 34
  JOURNAL   Cerebellum 23 (1), 268-277 (2024)
   PUBMED   36696030
  REMARK    GeneRIF: Two New Families and a Literature Review of
            ELOVL4-Associated Spinocerebellar Ataxia Type 34.
            Review article
REFERENCE   2  (bases 1 to 3013)
  AUTHORS   Alabdulrazzaq,F., Alanzi,T., Al-Balool,H.H., Gardham,A.,
            Wakeling,E., Leitch,H.G., AlSayed,M., Abdulrahim,M., Aladwani,A.,
            Romito,A., Kampe,K., Ferdinandusse,S., Aboelanine,A.H.,
            Abdullah,A., Alwadani,A., Bastaki,L., Vaz,F.M., Bertoli-Avella,A.M.
            and Marafi,D.
  TITLE     Expanding the allelic spectrum of ELOVL4-related autosomal
            recessive neuro-ichthyosis
  JOURNAL   Mol Genet Genomic Med 11 (12), e2256 (2023)
   PUBMED   37592902
  REMARK    GeneRIF: Expanding the allelic spectrum of ELOVL4-related autosomal
            recessive neuro-ichthyosis.
REFERENCE   3  (bases 1 to 3013)
  AUTHORS   Gyening,Y.K., Chauhan,N.K., Tytanic,M., Ea,V., Brush,R.S. and
            Agbaga,M.P.
  TITLE     ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34
            Differentially Alter Very Long Chain Fatty Acid Biosynthesis
  JOURNAL   J Lipid Res 64 (1), 100317 (2023)
   PUBMED   36464075
  REMARK    GeneRIF: ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34
            Differentially Alter Very Long Chain Fatty Acid Biosynthesis.
REFERENCE   4  (bases 1 to 3013)
  AUTHORS   He,Y., Phan,K., Bhatia,S., Pickford,R., Fu,Y., Yang,Y.,
            Hodges,J.R., Piguet,O., Halliday,G.M. and Kim,W.S.
  TITLE     Increased VLCFA-lipids and ELOVL4 underlie neurodegeneration in
            frontotemporal dementia
  JOURNAL   Sci Rep 11 (1), 21348 (2021)
   PUBMED   34725421
  REMARK    GeneRIF: Increased VLCFA-lipids and ELOVL4 underlie
            neurodegeneration in frontotemporal dementia.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3013)
  AUTHORS   Wang,Z., Lin,Z. and Wang,H.
  TITLE     Progressive symmetric erythrokeratodermia with spinocerebellar
            ataxia due to ELOVL4 mutation in a Chinese family
  JOURNAL   Indian J Dermatol Venereol Leprol 88 (1), 132 (2021)
   PUBMED   34623043
  REMARK    GeneRIF: Progressive symmetric erythrokeratodermia with
            spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.
REFERENCE   6  (bases 1 to 3013)
  AUTHORS   Edwards,A.O., Miedziak,A., Vrabec,T., Verhoeven,J., Acott,T.S.,
            Weleber,R.G. and Donoso,L.A.
  TITLE     Autosomal dominant Stargardt-like macular dystrophy: I. Clinical
            characterization, longitudinal follow-up, and evidence for a common
            ancestry in families linked to chromosome 6q14
  JOURNAL   Am J Ophthalmol 127 (4), 426-435 (1999)
   PUBMED   10218695
REFERENCE   7  (bases 1 to 3013)
  AUTHORS   Lehner,R. and Kuksis,A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
REFERENCE   8  (bases 1 to 3013)
  AUTHORS   Stone,E.M., Nichols,B.E., Kimura,A.E., Weingeist,T.A., Drack,A. and
            Sheffield,V.C.
  TITLE     Clinical features of a Stargardt-like dominant progressive macular
            dystrophy with genetic linkage to chromosome 6q
  JOURNAL   Arch Ophthalmol 112 (6), 765-772 (1994)
   PUBMED   8002834
REFERENCE   9  (bases 1 to 3013)
  AUTHORS   Zhang,K., Bither,P.P., Park,R., Donoso,L.A., Seidman,J.G. and
            Seidman,C.E.
  TITLE     A dominant Stargardt's macular dystrophy locus maps to chromosome
            13q34
  JOURNAL   Arch Ophthalmol 112 (6), 759-764 (1994)
   PUBMED   8002833
REFERENCE   10 (bases 1 to 3013)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA122864.1 and AY037298.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022726.3.
            
            Summary: This gene encodes a membrane-bound protein which is a
            member of the ELO family, proteins which participate in the
            biosynthesis of fatty acids. Consistent with the expression of the
            encoded protein in photoreceptor cells of the retina, mutations and
            small deletions in this gene are associated with Stargardt-like
            macular dystrophy (STGD3) and autosomal dominant Stargardt-like
            macular dystrophy (ADMD), also referred to as autosomal dominant
            atrophic macular degeneration. [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 :: BC038506.1, AF277094.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369816.5/ ENSP00000358831.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                DA122864.1         46-93
            49-3013             AY037298.1         1-2965
FEATURES             Location/Qualifiers
     source          1..3013
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..3013
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /note="ELOVL fatty acid elongase 4"
                     /db_xref="GeneID:6785"
                     /db_xref="HGNC:HGNC:14415"
                     /db_xref="MIM:605512"
     exon            1..374
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..1219
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /EC_number="2.3.1.199"
                     /note="elongation of very long chain fatty acids
                     (FEN1/Elo2, SUR4/Elo3, yeast)-like 4; cancer/testis
                     antigen 118; elongation of very long chain fatty acids
                     protein 4; 3-keto acyl-CoA synthase ELOVL4; ELOVL FA
                     elongase 4; very long chain 3-oxoacyl-CoA synthase 4; very
                     long chain 3-ketoacyl-CoA synthase 4"
                     /codon_start=1
                     /product="very long chain fatty acid elongase 4"
                     /protein_id="NP_073563.1"
                     /db_xref="CCDS:CCDS4992.1"
                     /db_xref="GeneID:6785"
                     /db_xref="HGNC:HGNC:14415"
                     /db_xref="MIM:605512"
                     /translation="MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQ
                     SPWPTLSISTLYLLFVWLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSY
                     NAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVY
                     HHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYL
                     TMLQLIQFHVTIGHTALSLYTDCPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKP
                     KAGKTAMNGISANGVSKSEKQLMIENGKKQKNGKAKGD"
     exon            375..562
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /inference="alignment:Splign:2.1.0"
     exon            563..643
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /inference="alignment:Splign:2.1.0"
     exon            644..815
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /inference="alignment:Splign:2.1.0"
     exon            816..943
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /inference="alignment:Splign:2.1.0"
     exon            944..3013
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2171..2176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /note="hexamer: AATAAA"
     polyA_site      2190
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /note="major polyA site"
     regulatory      2990..2995
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /note="hexamer: AATATA"
     polyA_site      3013
                     /gene="ELOVL4"
                     /gene_synonym="ADMD; CT118; ISQMR; SCA34; STGD2; STGD3"
                     /note="major polyA site"
ORIGIN      
        1 gcagactggt gcagcgcact gtgctggcgg ctgggcctcc tccacctcct cgtctttctc
       61 ccgggaacct tgacgacgcc ttccgcttgg ccctgccttc tgccgcatcc ccgccgccgc
      121 ggcgccttga ggagcaggag aagacgcagc cgggccgccg ccgttagagg ggttcccggc
      181 cgccgctcgc cccgtcggcc gccaccgcct ccggggtcag ccctctctct gggtctccgc
      241 tttctcctgc cgccagcgcc cgctcatcgc cgcgatgggg ctcctggact cggagccggg
      301 tagtgtccta aacgtagtgt ccacggcact caacgacacg gtagagttct accgctggac
      361 ctggtccatc gcagataagc gtgtggaaaa ttggcctctg atgcagtctc cttggcctac
      421 actaagtata agcactcttt atctcctgtt tgtgtggctg ggtccaaaat ggatgaagga
      481 ccgagaacct tttcagatgc gtctagtgct cattatctat aattttggga tggttttgct
      541 taacctcttt atcttcagag agttattcat gggatcatat aatgcgggat atagctatat
      601 ttgccagagt gtggattatt ctaataatgt tcatgaagtc aggatagctg ctgctctgtg
      661 gtggtacttt gtatctaaag gagttgagta tttggacaca gtgtttttta ttctgagaaa
      721 gaaaaacaac caagtttctt tccttcatgt gtatcatcac tgtacgatgt ttaccttgtg
      781 gtggattgga attaagtggg ttgcaggagg acaagcattt tttggagccc agttgaattc
      841 ctttatccat gtgattatgt actcatacta tgggttaact gcatttggcc catggattca
      901 gaaatatctt tggtggaaac gatacctgac tatgttgcaa ctgattcaat tccatgtgac
      961 cattgggcac acggcactgt ctctttacac tgactgcccc ttccccaaat ggatgcactg
     1021 ggctctaatt gcctatgcaa tcagcttcat atttctcttt cttaacttct acattcggac
     1081 atacaaagag cctaagaaac caaaagctgg aaaaacagcc atgaatggta tttcagcaaa
     1141 tggtgtgagc aaatcagaaa aacaactcat gatagaaaat ggaaaaaagc agaaaaatgg
     1201 aaaagcaaaa ggagattaaa ttgaactggg ccttaactgt tgttgacagt gaggaaaaac
     1261 tcccatatca tataaaattt cagggaaaac agaagcaaag gagagcttgg gggtggggag
     1321 aaaagacaaa tgtgctctat gtcctagtaa ctcttagact gagtaaagtg ttaataccat
     1381 acccagatgt tttatttatg aagtttttat tttaaacatt ttttttaaaa attagccttg
     1441 atattctcca gaccaaagca atcattaagt gactttgggg attctccccc tgttcacatc
     1501 cagttgtcta aaggatgaga tttttcatgt atcttatagt cactcattct tcggtctgaa
     1561 ttttagacga tcacagaaac ggtctttatg aattattttg ataaattact aattatctta
     1621 tctactgact gaaatcagtg gtgttacatt ttcttgtcca aagctgaaaa tgtgtataca
     1681 cttaaacttg cacatttgaa ttcatttgct gaccggaatg gtcaaatctc tccacctcta
     1741 gtcagagtat aattttggtt gtaattaaat ttttaaaatc tgctgatctc tgtagaatct
     1801 tagaggcttg atgatgatgg tgttggtgaa aataagaaag aattgcagta aagtcttgtc
     1861 tggtgaccca gagatcacca tgacttgagg cacaaatcac tgtggggaaa caattttttg
     1921 tgatgaaaag gcagcatttg aatactcctg ttagtagcag aaatatatta tgaaaattaa
     1981 gattattgtc tgattgaaac atgaaacaac tcatgtcttt attagtaaca tcataagata
     2041 gttacattta tgtgctgtta gaatatgttg atttttatca ggctttcctt gttttgattt
     2101 atggctgttc ctgatttttc atatgtggaa atatacctac ctcttccgtt ggaaagaaca
     2161 tttaaaatta aataaatttt aattaaaaaa tcaaggagtc ttctaatgta aattttaatg
     2221 ttaactttca aatccactag tatttttttt gcttttatga caaatagcat acaccaaaca
     2281 tttctgtgaa actatccttc tctttcaatg tgtttaattt tggagtaacg ttttccttgt
     2341 gactaagttg caagatctta tttattaact aggtatgaag tataaaccca ttttggtgca
     2401 atattcttga ctccttggtg ctaaagattg ttaaattcaa tgcttgatgt tacaaggtgt
     2461 tgttaaaaca caaaatgaat aaaagtgaga gtagtcagaa ctataacatt caatttgcta
     2521 tttacaaatg aagtatttca tgtaatataa gtgaacaact ggaaataaag taggaaagaa
     2581 tttgtatcat gttttactac ataggttaat tttttaaggg atgttgcaaa gggattacta
     2641 gagaaagaca aaatgtgacc aaaaaaaagc atgaatattt cttaagtatc tcaacaacat
     2701 gtcaaagctg catgtgtagg atgtatgctg tttgtacaaa ctatttcaga atattttgta
     2761 agctataaca tatttattgt gcattaaaat taaatacttt ttccccaaag gcatgcagtc
     2821 atgagaatta cagaaaattt gcaacatata aagtagtttg atctaagagg attcaacacc
     2881 tttgttttgt tgctcagtgt gtaatgactg agatttgtaa atctttgtga acattctgta
     2941 ctggttccca agagctattc attccctgct acctgatttc agcacaataa atatacttct
     3001 gctgtgggaa aaa
//
