LOCUS       NM_024552               1780 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens ceramide synthase 4 (CERS4), mRNA.
ACCESSION   NM_024552
VERSION     NM_024552.3
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 1780)
  AUTHORS   Shao,C., Ye,J., Dong,Z., Liao,B., Feng,S., Hu,S. and Zhong,B.
  TITLE     Phospholipid metabolism-related genotypes of PLA2R1 and CERS4
            contribute to nonobese MASLD
  JOURNAL   Hepatol Commun 8 (6), e0388 (2024)
   PUBMED   38836837
  REMARK    GeneRIF: Phospholipid metabolism-related genotypes of PLA2R1 and
            CERS4 contribute to nonobese MASLD.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1780)
  AUTHORS   Kim,S.J., Seo,I., Kim,M.H., Park,J.W., Kim,S. and Park,W.J.
  TITLE     Ceramide synthase 4 overexpression exerts oncogenic properties in
            breast cancer
  JOURNAL   Lipids Health Dis 22 (1), 183 (2023)
   PUBMED   37885013
  REMARK    GeneRIF: Ceramide synthase 4 overexpression exerts oncogenic
            properties in breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1780)
  AUTHORS   Hayama,T., Hama,K., Ozawa,T., Fujiwara,Y., Nozawa,K., Matsuda,K.,
            Yokoyama,K., Hashiguchi,Y., Ochiai,H., Misawa,T. and Fukagawa,T.
  TITLE     Ceramide synthase CERS4 gene downregulation is associated with KRAS
            mutation in colorectal cancer
  JOURNAL   Sci Rep 13 (1), 16249 (2023)
   PUBMED   37758931
  REMARK    GeneRIF: Ceramide synthase CERS4 gene downregulation is associated
            with KRAS mutation in colorectal cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1780)
  AUTHORS   Matsuzaka,T., Kuba,M., Koyasu,S., Yamamoto,Y., Motomura,K.,
            Arulmozhiraja,S., Ohno,H., Sharma,R., Shimura,T., Okajima,Y.,
            Han,S.I., Aita,Y., Mizunoe,Y., Osaki,Y., Iwasaki,H., Yatoh,S.,
            Suzuki,H., Sone,H., Takeuchi,Y., Yahagi,N., Miyamoto,T., Sekiya,M.,
            Nakagawa,Y., Ema,M., Takahashi,S., Tokiwa,H. and Shimano,H.
  TITLE     Hepatocyte ELOVL Fatty Acid Elongase 6 Determines Ceramide
            Acyl-Chain Length and Hepatic Insulin Sensitivity in Mice
  JOURNAL   Hepatology 71 (5), 1609-1625 (2020)
   PUBMED   31529722
REFERENCE   5  (bases 1 to 1780)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1780)
  AUTHORS   Ebel,P., Imgrund,S., Vom Dorp,K., Hofmann,K., Maier,H., Drake,H.,
            Degen,J., Dormann,P., Eckhardt,M., Franz,T. and Willecke,K.
  TITLE     Ceramide synthase 4 deficiency in mice causes lipid alterations in
            sebum and results in alopecia
  JOURNAL   Biochem J 461 (1), 147-158 (2014)
   PUBMED   24738593
REFERENCE   7  (bases 1 to 1780)
  AUTHORS   Hartmann,D., Wegner,M.S., Wanger,R.A., Ferreiros,N., Schreiber,Y.,
            Lucks,J., Schiffmann,S., Geisslinger,G. and Grosch,S.
  TITLE     The equilibrium between long and very long chain ceramides is
            important for the fate of the cell and can be influenced by
            co-expression of CerS
  JOURNAL   Int J Biochem Cell Biol 45 (7), 1195-1203 (2013)
   PUBMED   23538298
  REMARK    GeneRIF: Co-expression of CerS2 with CerS4/CerS6 reversed the
            inhibitory effect of long chain ceramides on cell proliferation and
            the induction of apoptosis. we detected no effect on cell
            proliferation.
REFERENCE   8  (bases 1 to 1780)
  AUTHORS   Rosenthal,E.A., Ronald,J., Rothstein,J., Rajagopalan,R.,
            Ranchalis,J., Wolfbauer,G., Albers,J.J., Brunzell,J.D.,
            Motulsky,A.G., Rieder,M.J., Nickerson,D.A., Wijsman,E.M. and
            Jarvik,G.P.
  TITLE     Linkage and association of phospholipid transfer protein activity
            to LASS4
  JOURNAL   J Lipid Res 52 (10), 1837-1846 (2011)
   PUBMED   21757428
  REMARK    GeneRIF: The linkage and association of phospholipid transfer
            protein activity to LASS4 were studied.
REFERENCE   9  (bases 1 to 1780)
  AUTHORS   Xu,J., Zheng,S.L., Isaacs,S.D., Wiley,K.E., Wiklund,F., Sun,J.,
            Kader,A.K., Li,G., Purcell,L.D., Kim,S.T., Hsu,F.C., Stattin,P.,
            Hugosson,J., Adolfsson,J., Walsh,P.C., Trent,J.M., Duggan,D.,
            Carpten,J., Gronberg,H. and Isaacs,W.B.
  TITLE     Inherited genetic variant predisposes to aggressive but not
            indolent prostate cancer
  JOURNAL   Proc Natl Acad Sci U S A 107 (5), 2136-2140 (2010)
   PUBMED   20080650
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 1780)
  AUTHORS   Lahiri,S., Lee,H., Mesicek,J., Fuks,Z., Haimovitz-Friedman,A.,
            Kolesnick,R.N. and Futerman,A.H.
  TITLE     Kinetic characterization of mammalian ceramide synthases:
            determination of K(m) values towards sphinganine
  JOURNAL   FEBS Lett 581 (27), 5289-5294 (2007)
   PUBMED   17977534
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA381485.1, BC009828.2, AK222621.1 and AC022146.8.
            
            On Nov 22, 2018 this sequence version replaced NM_024552.2.
            
            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 :: AK222621.1, SRR1660803.175441.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000251363.10/ ENSP00000251363.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               DA381485.1         42-201
            161-999             BC009828.2         1-839
            1000-1008           AK222621.1         1004-1012
            1009-1340           BC009828.2         849-1180
            1341-1780           AC022146.8         203760-204199
FEATURES             Location/Qualifiers
     source          1..1780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1780
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /note="ceramide synthase 4"
                     /db_xref="GeneID:79603"
                     /db_xref="HGNC:HGNC:23747"
                     /db_xref="MIM:615334"
     exon            1..125
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            126..282
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            283..456
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     CDS             284..1468
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /EC_number="2.3.1.24"
                     /note="LAG1 homolog, ceramide synthase 4; LAG1 longevity
                     assurance homolog 4; sphingosine N-acyltransferase CERS4"
                     /codon_start=1
                     /product="ceramide synthase 4"
                     /protein_id="NP_078828.2"
                     /db_xref="CCDS:CCDS12197.1"
                     /db_xref="GeneID:79603"
                     /db_xref="HGNC:HGNC:23747"
                     /db_xref="MIM:615334"
                     /translation="MLSSFNEWFWQDRFWLPPNVTWTELEDRDGRVYPHPQDLLAALP
                     LALVLLAMRLAFERFIGLPLSRWLGVRDQTRRQVKPNATLEKHFLTEGHRPKEPQLSL
                     LAAQCGLTLQQTQRWFRRRRNQDRPQLTKKFCEASWRFLFYLSSFVGGLSVLYHESWL
                     WAPVMCWDRYPNQTLKPSLYWWYLLELGFYLSLLIRLPFDVKRKDFKEQVIHHFVAVI
                     LMTFSYSANLLRIGSLVLLLHDSSDYLLEACKMVNYMQYQQVCDALFLIFSFVFFYTR
                     LVLFPTQILYTTYYESISNRGPFFGYYFFNGLLMLLQLLHVFWSCLILRMLYSFMKKG
                     QMEKDIRSDVEESDSSEEAAAAQEPLQLKNGAAGGPRPAPTDGPRSRVAGRLTNRHTT
                     AT"
     exon            457..574
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            575..693
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            694..751
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            752..802
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            803..895
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1024
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1131
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1288
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1780
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1760..1765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /note="hexamer: ATTAAA"
     polyA_site      1780
                     /gene="CERS4"
                     /gene_synonym="LASS4; Trh1"
                     /note="major polyA site"
ORIGIN      
        1 aggagcagag tccggctgcc tggggcgggc ggcgcgtgtc tgcagctgct ccgggtagcc
       61 cgctaggcgc gccgtcccca gccccgccgc cggccctcgg tgcgcccggc cgcctgcacc
      121 cccaggagca gctgctgtga ataaacacag aagtggagct gggggactga ttagaagcct
      181 cattcagtgc acctgggccc cagcaggccc agccaggcgt ggaggaagag gcattgagga
      241 ctttccttac ctgtttttcc agctcaccca ctgccagcag agaatgctgt ccagtttcaa
      301 cgagtggttt tggcaggaca ggttctggtt accacccaat gtcacgtgga cagagctaga
      361 agaccgggat ggccgtgtct acccccaccc ccaggacttg ttggcagccc tgcccctggc
      421 gctggtcctc ctggccatgc gccttgcctt tgagagattc attggcctgc ccctgagccg
      481 gtggctgggt gtgagggatc agaccaggag gcaagtgaag cccaacgcca cgctggagaa
      541 acacttcctc acggaagggc acaggcccaa ggagccccag ctgtctctcc tggccgccca
      601 gtgtggcctc acgctgcagc agacccagcg atggttccgg agacgccgga accaggatcg
      661 accccagctg accaagaagt tctgtgaggc cagctggagg tttctcttct acctgtcctc
      721 cttcgtgggc ggcctctcgg tcctgtacca cgagtcatgg ctgtgggcac cagtaatgtg
      781 ctgggacagg tacccaaacc agactctgaa gccatccctg tactggtggt acctcttgga
      841 gctgggtttc tacctctcac tgctaatcag gctgcccttt gatgtcaagc gcaaggattt
      901 caaggagcag gtgatacacc acttcgtggc ggtcatcctg atgaccttct cctacagtgc
      961 caacctgctg cgcattggct ctctggtgct gctgttacac gattcctctg actacctgct
     1021 ggaggcctgt aagatggtca actacatgca gtatcagcaa gtgtgcgacg ctctcttcct
     1081 catcttctcc tttgtcttct tctacacccg actggtcctc tttcccaccc agatcctcta
     1141 caccacatac tacgagtcca tcagcaacag gggccccttc ttcggctact acttcttcaa
     1201 cgggcttctg atgttgctgc agctgctgca cgtgttctgg tcttgcctca ttctgcgcat
     1261 gctctatagc ttcatgaaga agggccagat ggagaaggac attcgtagtg atgtagaaga
     1321 atcagactcc agtgaggagg cggcggcggc ccaggaacct ctgcagctaa agaacggggc
     1381 agctggaggg cccaggccag cccccactga tggccctcgg agccgggtgg ccgggcgtct
     1441 gaccaacagg cacacaacag ccacatagcc gggcggggct ggctgtaagg ggttgccccc
     1501 ccgccagtgc cttggatatt tctggggtga ctggactggc gcccctgggc cacctttctg
     1561 gagacaggga gggccccacc cggggtgggt gggaaggctg atgatctgtc tccagcccct
     1621 tccttctgcc cacccaccct tcttccctct gggcaactgg acagatctgg gagccagcag
     1681 ctggatgctg tggctggcca gagacacctc caggctgtgg cctgggggct ggggggagcc
     1741 ccaggctgaa aagggtccaa ttaaaacaaa tggagccaaa
//
