LOCUS       NM_021267               2579 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1,
            mRNA.
ACCESSION   NM_021267
VERSION     NM_021267.5
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 2579)
  AUTHORS   Wohlwend,M., Laurila,P.P., Goeminne,L.J.E., Lima,T., Daskalaki,I.,
            Li,X., von Alvensleben,G., Crisol,B., Mangione,R.,
            Gallart-Ayala,H., Lalou,A., Burri,O., Butler,S., Morris,J.,
            Turner,N., Ivanisevic,J. and Auwerx,J.
  TITLE     Inhibition of CERS1 in skeletal muscle exacerbates age-related
            muscle dysfunction
  JOURNAL   Elife 12, 90522 (2024)
   PUBMED   38506902
  REMARK    GeneRIF: Inhibition of CERS1 in skeletal muscle exacerbates
            age-related muscle dysfunction.
            Erratum:[Elife. 2024 May 20;13:e99846. doi: 10.7554/eLife.99846..
            PMID: 38767943]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2579)
  AUTHORS   Wang,J., Zhang,J., Ma,D. and Li,X.
  TITLE     The Potential Role of CERS1 in Autophagy Through PI3K/AKT Signaling
            Pathway in Hypophysoma
  JOURNAL   Technol Cancer Res Treat 19, 1533033820977536 (2020)
   PUBMED   33267708
  REMARK    GeneRIF: The Potential Role of CERS1 in Autophagy Through PI3K/AKT
            Signaling Pathway in Hypophysoma.
REFERENCE   3  (bases 1 to 2579)
  AUTHORS   Kim,S., Simon,E., Myers,L., Hamm,L.L. and Jazwinski,S.M.
  TITLE     Programmed Cell Death Genes Are Linked to Elevated Creatine Kinase
            Levels in Unhealthy Male Nonagenarians
  JOURNAL   Gerontology 62 (5), 519-529 (2016)
   PUBMED   26913518
  REMARK    GeneRIF: Single nucleotide polymorphisms in the gene LASS1
            associated with programmed cell death, providing a potential
            cellular mechanism for the effects on tissue damage and circulating
            Creatine kinase.
REFERENCE   4  (bases 1 to 2579)
  AUTHORS   Vanni,N., Fruscione,F., Ferlazzo,E., Striano,P., Robbiano,A.,
            Traverso,M., Sander,T., Falace,A., Gazzerro,E., Bramanti,P.,
            Bielawski,J., Fassio,A., Minetti,C., Genton,P. and Zara,F.
  TITLE     Impairment of ceramide synthesis causes a novel progressive
            myoclonus epilepsy
  JOURNAL   Ann Neurol 76 (2), 206-212 (2014)
   PUBMED   24782409
REFERENCE   5  (bases 1 to 2579)
  AUTHORS   Haddad,S.E., Khoury,M., Daoud,M., Kantar,R., Harati,H.,
            Mousallem,T., Alzate,O., Meyer,B. and Boustany,R.M.
  TITLE     CLN5 and CLN8 protein association with ceramide synthase:
            biochemical and proteomic approaches
  JOURNAL   Electrophoresis 33 (24), 3798-3809 (2012)
   PUBMED   23160995
  REMARK    GeneRIF: This study highlights a close interaction between
            CLN5/CLN8 proteins, and their role in sphingolipid metabolism. Our
            findings suggest that CLN5p/CLN8p most likely are positive
            modulators of CerS1 and/or CerS2.
REFERENCE   6  (bases 1 to 2579)
  AUTHORS   Koybasi,S., Senkal,C.E., Sundararaj,K., Spassieva,S., Bielawski,J.,
            Osta,W., Day,T.A., Jiang,J.C., Jazwinski,S.M., Hannun,Y.A.,
            Obeid,L.M. and Ogretmen,B.
  TITLE     Defects in cell growth regulation by C18:0-ceramide and longevity
            assurance gene 1 in human head and neck squamous cell carcinomas
  JOURNAL   J Biol Chem 279 (43), 44311-44319 (2004)
   PUBMED   15317812
  REMARK    GeneRIF: LAG1 and C18-ceramide have roles in the regulation of
            growth of HNSCC
REFERENCE   7  (bases 1 to 2579)
  AUTHORS   Guillas,I., Jiang,J.C., Vionnet,C., Roubaty,C., Uldry,D.,
            Chuard,R., Wang,J., Jazwinski,S.M. and Conzelmann,A.
  TITLE     Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide
            synthesis in yeast
  JOURNAL   J Biol Chem 278 (39), 37083-37091 (2003)
   PUBMED   12869556
REFERENCE   8  (bases 1 to 2579)
  AUTHORS   Venkataraman,K., Riebeling,C., Bodennec,J., Riezman,H.,
            Allegood,J.C., Sullards,M.C., Merrill,A.H. Jr. and Futerman,A.H.
  TITLE     Upstream of growth and differentiation factor 1 (uog1), a mammalian
            homolog of the yeast longevity assurance gene 1 (LAG1), regulates
            N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a
            fumonisin B1-independent manner in mammalian cells
  JOURNAL   J Biol Chem 277 (38), 35642-35649 (2002)
   PUBMED   12105227
  REMARK    GeneRIF: regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide)
            synthesis in a fumonisin B1-independent manner in mammalian cel
REFERENCE   9  (bases 1 to 2579)
  AUTHORS   Jiang,J.C., Kirchman,P.A., Zagulski,M., Hunt,J. and Jazwinski,S.M.
  TITLE     Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans
            and human
  JOURNAL   Genome Res 8 (12), 1259-1272 (1998)
   PUBMED   9872981
REFERENCE   10 (bases 1 to 2579)
  AUTHORS   Lee,S.J.
  TITLE     Expression of growth/differentiation factor 1 in the nervous
            system: conservation of a bicistronic structure
  JOURNAL   Proc Natl Acad Sci U S A 88 (10), 4250-4254 (1991)
   PUBMED   2034669
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005197.1, AL120193.1,
            M62302.1, AC003972.1 and AI671814.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_021267.4.
            
            Summary: This gene encodes a ceramide synthase enzyme, which
            catalyzes the synthesis of ceramide, the hydrophobic moiety of
            sphingolipids. The encoded enzyme synthesizes 18-carbon (C18)
            ceramide in brain neurons. Elevated expression of this gene may be
            associated with increased longevity, while decreased expression of
            this gene may be associated with myoclonus epilepsy with dementia
            in human patients. This protein is transcribed from a monocistronic
            mRNA as well as a bicistronic mRNA, which also encodes growth
            differentiation factor 1. [provided by RefSeq, Jul 2016].
            
            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 :: M62302.1, SRR14038191.3848394.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            bicistronic transcript :: PMID: 2034669
            MANE Ensembl match     :: ENST00000623882.4/ ENSP00000485308.1
            NMD candidate          :: PMID: 2034669
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AC005197.1         24330-24343         c
            15-65               AL120193.1         1-51
            66-301              M62302.1           4-239
            302-302             AC005197.1         24042-24042         c
            303-1289            M62302.1           241-1227
            1290-1290           AC003972.1         39107-39107         c
            1291-1760           M62302.1           1229-1698
            1761-1761           AC003972.1         38044-38044         c
            1762-2572           M62302.1           1700-2510
            2573-2578           AI671814.1         114-119
            2579-2579           AC003972.1         37226-37226         c
FEATURES             Location/Qualifiers
     source          1..2579
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..2579
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /note="ceramide synthase 1"
                     /db_xref="GeneID:10715"
                     /db_xref="HGNC:HGNC:14253"
                     /db_xref="MIM:606919"
     exon            1..335
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1139
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /EC_number="2.3.1.299"
                     /note="isoform 1 is encoded by transcript variant 1;
                     longevity assurance (LAG1, S. cerevisiae) homolog 1;
                     upstream of GDF1; protein UOG-1; sphingoid base
                     N-stearoyltransferase CERS1; longevity assurance gene 1
                     protein homolog 1; Embryonic growth/differentiation factor
                     1"
                     /codon_start=1
                     /product="ceramide synthase 1 isoform 1"
                     /protein_id="NP_067090.1"
                     /db_xref="CCDS:CCDS46020.1"
                     /db_xref="GeneID:10715"
                     /db_xref="HGNC:HGNC:14253"
                     /db_xref="MIM:606919"
                     /translation="MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGL
                     ARRGLAEHAHLAPPELLLLALGALGWTALRSAATARLFRPLAKRCCLQPRDAAKMPES
                     AWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYG
                     HSIYATLYMDTWRKDSVVMLLHHVVTLILIVSSYAFRYHNVGILVLFLHDISDVQLEF
                     TKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYWFPLKVLYATSHCSLRTVP
                     DIPFYFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPS
                     KAEKPLRNGLVKDKRF"
     exon            336..495
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            496..676
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            677..838
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            839..986
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1096
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1733
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..2579
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2557..2562
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /note="hexamer: AATAAA"
     polyA_site      2579
                     /gene="CERS1"
                     /gene_synonym="EPM8; GDF-1; GDF1; LAG1; LASS1; UOG1"
                     /note="major polyA site"
ORIGIN      
        1 agctgcggcg cgtgacgcgg ggcgcgcggc tccgtcggct accgcgggcg ggcgcaggcg
       61 acgggcacgg cgggcgagcg ggcggtatgg cggcggcggg gcccgcggcg gggccgacgg
      121 ggcccgagcc catgccgagc tacgcgcagc tagtgcagcg cggctggggc agcgcgctgg
      181 cggcggcgcg gggctgcacg gactgcggct gggggctggc gcgtcgcggc ctggctgagc
      241 acgcgcacct ggcgccgccc gagctgctgc tgctggcgct cggcgcgctg ggctggaccg
      301 ccctgcgctc cgcggccact gcgcgcctct ttcggcccct ggcgaagcgg tgctgcctcc
      361 agcccagaga tgccgccaag atgcccgaga gcgcttggaa gtttctcttc tacctgggca
      421 gctggagcta cagtgcctac ctgctgtttg gcaccgacta ccccttcttc catgacccac
      481 catctgtctt ctacgactgg acgccgggca tggcagtgcc acgggacatt gcagccgcct
      541 acctgctcca gggaagcttc tatggccact ccatctacgc tacgctatac atggacacct
      601 ggcgcaagga ctcggtggtc atgctgctcc accacgtggt cactctcatc ctcatcgtct
      661 cctcctacgc cttccggtac cacaatgtgg gcatccttgt gctcttcctg cacgatatca
      721 gtgacgtgca gcttgagttc accaagctca acatttactt caagtcccgc ggcggctcct
      781 accatcggct gcatgccttg gcagcagact tgggctgcct cagcttcggc ttcagctggt
      841 tctggttccg cctctactgg ttcccgctca aggtcctgta tgccaccagt cactgcagtc
      901 tgcgcacggt gcctgacatc cccttctact tcttcttcaa tgcgctcctg ctgctgctca
      961 cccttatgaa cctctactgg ttcctgtaca tcgtggcgtt tgcagccaag gtgttgacag
     1021 gccaggtgca cgagctgaag gacctgcggg agtatgacac agccgaggcc cagagcctga
     1081 agcccagcaa agccgagaag ccactgagga acggcctggt gaaggacaag cgcttctgaa
     1141 cccctcggcc ccgcccccgt ggacccggcc ccaccccgaa taccccggcc acgctccccg
     1201 tccttggccg cccctccacc ccctccaact ctgctcctct agggccgccg ccacctcccc
     1261 tgggaccccg ccccctcatc ctgcctccag ttcccggcca cgccccccag gacccctgcc
     1321 cctccgggga caccggcccc gccctcagcc cactggtccc gggccgccgc ggaccctgcg
     1381 cactctctgg tcatcgcctg ggaggaagat gccaccgccg cagcaaggtc cctgcggcca
     1441 ccacctcctc ctcctcctgg ccctgctgct gccctcgctg cccctgaccc gcgcccccgt
     1501 gcccccaggc ccagccgccg ccctgctcca ggctctagga ctgcgcgatg agccccaggg
     1561 tgcccccagg ctccggccgg ttcccccggt catgtggcgc ctgtttcgac gccgggaccc
     1621 ccaggagacc aggtctggct cgcggcggac gtccccaggg gtcaccctgc aaccgtgcca
     1681 cgtggaggag ctgggggtcg ccggaaacat cgtgcgccac atcccggacc gcggtgcgcc
     1741 cacccgggcc tcggagcctg cctcggccgc ggggcattgc cctgagtgga cagtcgtctt
     1801 cgacctgtcg gctgtggaac ccgctgagcg cccgagccgg gcccgcctgg agctgcgttt
     1861 cgcggcggcg gcggcggcag ccccggaggg cggctgggag ctgagcgtgg cgcaagcggg
     1921 ccagggcgcg ggcgcggacc ccgggccggt gctgctccgc cagttggtgc ccgccctggg
     1981 gccgccagtg cgcgcggagc tgctgggcgc cgcttgggct cgcaacgcct catggccgcg
     2041 cagcctccgc ctggcgctgg cgctacgccc ccgggcccct gccgcctgcg cgcgcctggc
     2101 cgaggcctcg ctgctgctgg tgaccctcga cccgcgcctg tgccaccccc tggcccggcc
     2161 gcggcgcgac gccgaacccg tgttgggcgg cggccccggg ggcgcttgtc gcgcgcggcg
     2221 gctgtacgtg agcttccgcg aggtgggctg gcaccgctgg gtcatcgcgc cgcgcggctt
     2281 cctggccaac tactgccagg gtcagtgcgc gctgcccgtc gcgctgtcgg ggtccggggg
     2341 gccgccggcg ctcaaccacg ctgtgctgcg cgcgctcatg cacgcggccg ccccgggagc
     2401 cgccgacctg ccctgctgcg tgcccgcgcg cctgtcgccc atctccgtgc tcttctttga
     2461 caacagcgac aacgtggtgc tgcggcagta tgaggacatg gtggtggacg agtgcggctg
     2521 ccgctaaccc ggggcgggca gggacgcggg cccaacaata aatgccgcgt ggtctgctc
//
