LOCUS       NM_203463               6804 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2,
            mRNA.
ACCESSION   NM_203463 XM_371579
VERSION     NM_203463.3
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 6804)
  AUTHORS   Jeon,S., Scorletti,E., Dempsey,J., Buyco,D., Lin,C., Saiman,Y.,
            Bayen,S., Harkin,J., Martin,J., Hooks,R., Ogretmen,B., Argemi,J.,
            Melo,L., Bataller,R. and Carr,R.M.
  TITLE     Ceramide synthase 6 (CerS6) is upregulated in alcohol-associated
            liver disease and exhibits sex-based differences in the regulation
            of energy homeostasis and lipid droplet accumulation
  JOURNAL   Mol Metab 78, 101804 (2023)
   PUBMED   37714377
  REMARK    GeneRIF: Ceramide synthase 6 (CerS6) is upregulated in
            alcohol-associated liver disease and exhibits sex-based differences
            in the regulation of energy homeostasis and lipid droplet
            accumulation.
REFERENCE   2  (bases 1 to 6804)
  AUTHORS   Li,D., Tian,L., Nan,P., Zhang,J., Zheng,Y., Jia,X., Gong,Y. and
            Wu,Z.
  TITLE     CerS6 triggered by high glucose activating the TLR4/IKKbeta pathway
            regulates ferroptosis of LO2 cells through mitochondrial oxidative
            stress
  JOURNAL   Mol Cell Endocrinol 572, 111969 (2023)
   PUBMED   37230220
  REMARK    GeneRIF: CerS6 triggered by high glucose activating the
            TLR4/IKKbeta pathway regulates ferroptosis of LO2 cells through
            mitochondrial oxidative stress.
REFERENCE   3  (bases 1 to 6804)
  AUTHORS   Li,X., Jiang,X., Lu,J., Lin,Y., Jiang,L., Li,Y., Wan,F. and Wang,C.
  TITLE     CircCERS6 Suppresses the Development of Epithelial Ovarian Cancer
            Through Mediating miR-630/RASSF8
  JOURNAL   Biochem Genet 60 (6), 2611-2629 (2022)
   PUBMED   35676548
  REMARK    GeneRIF: CircCERS6 Suppresses the Development of Epithelial Ovarian
            Cancer Through Mediating miR-630/RASSF8.
REFERENCE   4  (bases 1 to 6804)
  AUTHORS   Lee,W.K., Maass,M., Quach,A., Poscic,N., Prangley,H., Pallott,E.C.,
            Kim,J.L., Pierce,J.S., Ogretmen,B., Futerman,A.H. and Thevenod,F.
  TITLE     Dependence of ABCB1 transporter expression and function on distinct
            sphingolipids generated by ceramide synthases-2 and -6 in
            chemoresistant renal cancer
  JOURNAL   J Biol Chem 298 (2), 101492 (2022)
   PUBMED   34915026
  REMARK    GeneRIF: Dependence of ABCB1 transporter expression and function on
            distinct sphingolipids generated by ceramide synthases-2 and -6 in
            chemoresistant renal cancer.
REFERENCE   5  (bases 1 to 6804)
  AUTHORS   Xing,J. and Yi,J.
  TITLE     Comprehensive analysis of LASS6 expression and prognostic value in
            ovarian cancer
  JOURNAL   J Ovarian Res 14 (1), 117 (2021)
   PUBMED   34488809
  REMARK    GeneRIF: Comprehensive analysis of LASS6 expression and prognostic
            value in ovarian cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6804)
  AUTHORS   Senkal,C.E., Ponnusamy,S., Bielawski,J., Hannun,Y.A. and
            Ogretmen,B.
  TITLE     Antiapoptotic roles of ceramide-synthase-6-generated C16-ceramide
            via selective regulation of the ATF6/CHOP arm of ER-stress-response
            pathways
  JOURNAL   FASEB J 24 (1), 296-308 (2010)
   PUBMED   19723703
  REMARK    GeneRIF: Mechanistically, regulation of ER-stress-induced apoptosis
            by CerS6/C(16)-ceramide was linked to the activation of a specific
            arm, ATF6/CHOP, of the unfolded protein response pathway.
REFERENCE   7  (bases 1 to 6804)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   8  (bases 1 to 6804)
  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
REFERENCE   9  (bases 1 to 6804)
  AUTHORS   Mesika,A., Ben-Dor,S., Laviad,E.L. and Futerman,A.H.
  TITLE     A new functional motif in Hox domain-containing ceramide synthases:
            identification of a novel region flanking the Hox and TLC domains
            essential for activity
  JOURNAL   J Biol Chem 282 (37), 27366-27373 (2007)
   PUBMED   17609214
REFERENCE   10 (bases 1 to 6804)
  AUTHORS   Weinmann,A., Galle,P.R. and Teufel,A.
  TITLE     LASS6, an additional member of the longevity assurance gene family
  JOURNAL   Int J Mol Med 16 (5), 905-910 (2005)
   PUBMED   16211262
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK172775.1, AC009475.5 and BM968545.1.
            
            On Jun 2, 2019 this sequence version replaced NM_203463.2.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 3' coding region, compared to variant 1, resulting in
            an isoform (2) that is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR7346977.2820222.1,
                                           SRR7346977.2742039.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305747.11/ ENSP00000306579.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1931              AK172775.1         24-1954
            1932-6222           AC009475.5         128263-132553
            6223-6804           BM968545.1         18-599              c
FEATURES             Location/Qualifiers
     source          1..6804
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     gene            1..6804
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /note="ceramide synthase 6"
                     /db_xref="GeneID:253782"
                     /db_xref="HGNC:HGNC:23826"
                     /db_xref="MIM:615336"
     exon            1..347
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..1332
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /EC_number="2.3.1.291"
                     /note="isoform 2 is encoded by transcript variant 2; LAG1
                     homolog, ceramide synthase 6; longevity assurance homolog
                     6; sphingoid base N-palmitoyltransferase CERS6"
                     /codon_start=1
                     /product="ceramide synthase 6 isoform 2"
                     /protein_id="NP_982288.1"
                     /db_xref="CCDS:CCDS2228.1"
                     /db_xref="GeneID:253782"
                     /db_xref="HGNC:HGNC:23826"
                     /db_xref="MIM:615336"
                     /translation="MAGILAWFWNERFWLPHNVTWADLKNTEEATFPQAEDLYLAFPL
                     AFCIFMVRLIFERFVAKPCAIALNIQANGPQIAPPNAILEKVFTAITKHPDEKRLEGL
                     SKQLDWDVRSIQRWFRQRRNQEKPSTLTRFCESMWRFSFYLYVFTYGVRFLKKTPWLW
                     NTRHCWYNYPYQPLTTDLHYYYILELSFYWSLMFSQFTDIKRKDFGIMFLHHLVSIFL
                     ITFSYVNNMARVGTLVLCLHDSADALLEAAKMANYAKFQKMCDLLFVMFAVVFITTRL
                     GIFPLWVLNTTLFESWEIVGPYPSWWVFNLLLLLVQGLNCFWSYLIVKIACKAVSRGK
                     VSKDDRSDIESSSDEEDSEPPGKNPHTATTTNGTSGTNGYLLTGSCSMDD"
     exon            348..453
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     exon            454..584
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     exon            585..642
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     exon            643..693
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     exon            694..786
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     exon            787..915
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1022
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1179
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..6804
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6780..6785
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /note="hexamer: AATAAA"
     polyA_site      6804
                     /gene="CERS6"
                     /gene_synonym="CERS5; LASS6"
                     /note="major polyA site"
ORIGIN      
        1 ggggctcgcc gcgagccttc gagagcagcg gccgcggagg aggcggcggc ggcgggcggg
       61 agcagcggcg gcggcggcac aggctcgggg ccagccgggc gcgcatcccc gggcgccctg
      121 cgcggtggag agcttggcgg gctgcgggtg ccgcaggaca ggagtggaca aagcaagatg
      181 gcagggatct tagcctggtt ctggaacgag aggttttggc tcccgcacaa tgtcacctgg
      241 gcggacctga agaacacgga ggaggccacc ttcccgcagg ctgaggacct ctatctcgct
      301 tttcccctgg ccttctgtat cttcatggtg cggctcatct tcgagagatt tgtagccaaa
      361 ccgtgcgcca tagccctcaa cattcaggcc aatggaccac aaattgctcc gcccaatgcc
      421 attctggaaa aggtcttcac tgcaattaca aagcatcctg atgaaaagag attggaaggc
      481 ctctccaagc aactggactg ggatgttcga agcattcagc gctggtttcg acaaagacgc
      541 aatcaggaga agccaagcac gctgacgagg ttctgtgaga gcatgtggag attttcattt
      601 tacctttatg tatttaccta cggagtcaga ttcctgaaaa agaccccctg gttgtggaat
      661 acgaggcatt gctggtacaa ctacccctat cagccactca caactgacct tcactactat
      721 tacatcctgg agctgtcgtt ttattggtct ttgatgtttt ctcagttcac tgatatcaaa
      781 agaaaggact ttggcattat gttcctgcac caccttgtat ctattttctt gattaccttt
      841 tcatatgtca acaatatggc ccgagtagga acgctggtcc tttgtcttca tgattcagct
      901 gatgctcttc tggaggctgc caaaatggca aattatgcca agtttcagaa aatgtgtgat
      961 ctcctgtttg ttatgtttgc cgtggttttt atcaccacac gactgggtat atttcctctc
     1021 tgggtgttaa ataccacatt atttgaaagc tgggagatcg ttggacctta cccttcctgg
     1081 tgggttttta acctactgct attgctagta caagggttga actgcttctg gtcttacttg
     1141 attgtgaaaa tagcttgcaa agctgtttca agaggcaagg tgtccaagga tgatcgaagt
     1201 gatattgagt ctagctcaga tgaggaggac tcagaacctc cgggaaagaa tccccacact
     1261 gcgacaacca ccaatgggac cagtggtacc aacgggtatc tcctgactgg ctcctgctcc
     1321 atggatgatt aattactcaa aactacaagt cccaagcaaa gtgaactatt tgttcctgga
     1381 agtatttaat aagttgcaaa tgcagttcct ttcataatat ctcagcacca gaaacaaaaa
     1441 ttaagattat caaagcattt tgaatagtgc actgccatgt gtcctgtctg tgaatgaaga
     1501 agaattacca ttctctcttt gtaggcatgc tgtatgtaat tgacacaagg gaacagtatt
     1561 tgcatttgta ctgtcttaga atattattta tttttttgta tttgtaaatc tgtggacaaa
     1621 agagggtttc ctcactcctt ttactcactg ggctcatgac agtgaaggag atgctccatc
     1681 tgcttctccc cctttctctt gctgtagtcc aatgtgctat gagcatcagc ttactttgtc
     1741 acttagagca agcaaaaccc agtgcaagag tctcgttcag ctctaaatag gtttgctttc
     1801 ttttagttac agtgcccatt ttgaaattgc ctatacagtc ttagtgacca tttaaaccgg
     1861 acgaactagg tgtttaattt tcactcttca tgttcaatta gcagttcaaa ttaaagaaga
     1921 tggttattgg agaacttttt tgaatggttt tgtattaaat tgctttgaaa tagatttcat
     1981 ttcttgtgca cacagccaag atttcttcaa tgggtgtgag ctagttgagg gttaaccttg
     2041 taggttgcag agtgtatttg tttgtttgtt tgtttttctc tgtgatgagg tcagtgctct
     2101 gattttgaag gaggatattc actgaagctc atagttataa acaaggaaat cactgttaag
     2161 aatgggaatt tgtcctgtgt tctgggaata acataaagag agcaactgat ttcagccagg
     2221 ttttgccact accctataat tagtgcagtc ttatgttata aaagaaagaa gttaactata
     2281 tttggggaca aaaaaatatt tcaagagttg ataaagatta cctgtgcagt gcagagcact
     2341 ttaatgcaac cagctttcaa gaaaaagccc tatctagtac ttgatgttga tgtttttatt
     2401 ttgctgagca aaataaagcc aatgggagaa agactatttt accctttgct tttctcctta
     2461 aacgtaatcc agatgacttt cctgttacta aacactgagc agcattacac tacaatgctt
     2521 ctttggtttc caggaatttt tttcaaatgg ggctgtttct ggaaaaatga aaaattctat
     2581 tggacaatgg caatatcaac aatgaggaaa attactgaag aataagtttc cataagtctc
     2641 ctacatagca gtgttattta tgtacagata agaaaaccat atgtcagcca aagattttat
     2701 ctcttcttct aacttttagt aagaggaaaa agggattata aaacccttca taaatcaaga
     2761 aggccatcac ttagaacgaa ccccaaacaa aaatgccata atataaatgt gtgaatcagg
     2821 gctgtgaaga caacagcaga aatgctaaca agcgtgcaga aacaccagag agtgcgtatc
     2881 ctgctcagaa ccattcacat ttaattcaat tcttggaaaa aattaaagct ttttgcccac
     2941 aatttgcaat ctgtgggtta atagttaaaa gaatgttccc aaccaaaaaa ttcttaccgt
     3001 aatattatat cttgccctac ttatttacaa aataatatgt ttctgttatg gtccttagta
     3061 ataattgaag aggcttagaa atacatctgc ttgtttattg agaaaacgat gcaaataatt
     3121 ctgcttttag agccttgtta ttttatttca caaaacaggc atatgtctag gagtgtaatt
     3181 tgtggatggt tgagtttgta agaacaatca taaaaggact tgttagtctc cagaacatct
     3241 gctaaaatgc aagtatatgt ataaggtaat agcatattac agctgaaaat tttgagaagg
     3301 taaaagtttc ttaattaaaa tatgaacata tttagcttgc tttagtgtct ggggcaagtc
     3361 ctctcaatgg ctaaaattaa ctttagagat ccatgtgttc aggtttagat catatgacac
     3421 tcgagcacag aagaataatt tcaaggaggt catcttgtaa attaaaggtt tagaagaatt
     3481 gcataaaacg tagtaaatgg ggtctgtcat tagcaaaggc aaatctaagc aatcattttt
     3541 ccccccagaa gttacttaga aggagaactg ggaacacttg gggtctctct aactgatggc
     3601 attcacttca cacagtcgtc tatgttatcc agagattttt atttcatttt acattttagg
     3661 gcacagttct ttggggctaa ttaaaatggg gtttgcaggc tttttatggt gaagaataat
     3721 atatctctgt ctatagcttt cccatggtag cctgataagg ctgagagaga aaaatatgtg
     3781 cagtatctca tcctccccct gtaccaggcc atagctttga agtgtatttt gtaaattcaa
     3841 ctataggtta gtcagaatgc tgtttttcgt taattaactt agcctgtgtt gatatctcct
     3901 ccttcctggt cacattcaaa ccttcccaga gtacaaaggg gtatgtagaa aggattccag
     3961 aagaagtaat actttattct ctaatgttaa tagcttttct ggatctctta gtagggggaa
     4021 agtagaaaat cgagtagaat ttggcctcag gtcaataaat gatataaaaa catgtgttct
     4081 atttatgtat atatatgtat gtttctccaa aaagtgataa aaccaaaata tcactgactc
     4141 atccctaccc atattctttt cataaaaccc actcaccagg tacaatagaa acttccctcc
     4201 ttgtttgtca gcctcctgtt catgttcccc acacacctga aggtggtaga atcttttcag
     4261 cctcttagcc agtgagctaa atatggctaa gcacaggtca taagagcacc taaggccagc
     4321 atataagcca actacagttc acctttccaa atttggtcct atggatgttg agcataggga
     4381 agcaactctc agtattttgg attattcaag tgtatgtggt aaaaatgcag atgattgctg
     4441 ctttacccca gggtttatta gcatcctact tctgctgggc tgcatcatta tataatgcca
     4501 caggcatcta gtcaaggtaa agaagccaga aaggttaggc aagaagtgag ataaaatcag
     4561 atcacctttg atcaaaatgg ttggtgaacc tccacatgtc cagttctgtt gccaaacttt
     4621 ccattcagag tatttggtgg agtttgaatt tgagcaaact aaatgccttc atcttaggta
     4681 gaaagggcct gaatcttcca ttttatattc aaacctcatt gttatttggc ctaagtaaaa
     4741 agtcagattt catttccatt tacctgagtt cgctttaaag agcttttcaa agagagcttt
     4801 atagacaccc acaattgtcc ccaatctctt catgatgttg cattaatagt tgtttttgtc
     4861 cctttcttgg aaatgttaat gccaaagttg cctgaacatt gggcggtttt cttaatttga
     4921 agtataaaaa ttataaagag taattccaaa ggtattaaaa gattgtttaa cagtatgtgt
     4981 ggtgatgtca ttatctccag agaggcttca agaaatcctt tggaaataaa aagttaaatg
     5041 tttacatttc atgtggtatt tcaggtcttc aggttctgat tagcttactt ttttcctttg
     5101 tctttggctg atttctgctt tgtagataaa taataatagc cctgagatgt ttctaacatt
     5161 taaataagaa aaaaatcaaa tcgaagtcag cctgctggaa aagtgatcac atggcagttg
     5221 cagtaacttg tatggaaaga gaaaatgcaa tgagcccagt tactgcactt gccactacca
     5281 tgctgtccat ggaaggaata atcagcagtt cagttgtcac aagccgccct tgaagaaaac
     5341 gcagcaaaat attttaaaat gaagatattg cagtccccag agccagtgaa ggtttctttt
     5401 ggtaaaatga aattgtgcca ttgtcaaagt accccgtagt gatgagcact gactggttca
     5461 ctggccacat tttagttctt cataataata ggccacaaaa gggctctgtg gtttgcctcc
     5521 atgtgcactg gcccctcccc acccctaggg ggcactcagt agctgctgag aaggcctgtc
     5581 cacgaggctg ttggaacccc tccaataaat acttagaggt agtgtatctg atgcttgttt
     5641 tcgtggagaa aattgtattg gagaacttaa aacatcacga atatttttaa taggatccgc
     5701 agacacccaa aggagaagct tggtcttttc caggtatttc caacttgagt tcaacccaaa
     5761 gcctttgaaa ggaatgcatt accacatgac cacatgctga gaccccatgg ggtctaacac
     5821 gggacctaag aaagtctctg cagccagata gtacatggtg tctccacaaa actaggcatt
     5881 ctggagattg cccagaaagg gatgtgaggg gaccgttaag atctgtcttg cttatctcat
     5941 gcactcacat tccttcagcc tcctggagtt cctgataaaa ggaagccagg gtgtggacat
     6001 tttttagcta ttgatttccc aatagcttgt ggatcagttg tacacccaca cttccttctc
     6061 tgcctaattc cgtttttctg gaaaaagtag tatgcccatg tatgtgtgtt tttcttaaca
     6121 caggtccatg aaagtttggc ttcctggttt gatgtctgtt gcgtggcctg gaaaccaggg
     6181 agcagcaact attgagatgg tttctgtgtt cagtgaaaaa ttctatttca ttgagacaat
     6241 tttttcttta tccacagtaa ttttttgaca ctgtcatcat gaaactaccc ttaggaaaat
     6301 aagattacct gcaaaaaaaa aaaagaaatg agttatggaa taggaacagt tatgtgatga
     6361 ttctgaaact ttaacttaga gcttcattac tttaagaatg gaaaacaacc tctgagtttg
     6421 atttcccaaa gtttcataaa gcccctaagc tcatgatttt catcaactct ttgcccacat
     6481 agtcatttac ctccacagcc gtttgttgtc atagaagggg tggtggtgtt tggatttgat
     6541 ttttttcaac ttgcagtgag aaataggata ggtgacaaaa ccttacttgt tttcttaaga
     6601 caattcagtg cttgagcatc tctgtcagaa atggaatgaa atactgttag ccaattagaa
     6661 ttattttatg tattgttatt gtgttttgct gatttttata tgaaaatata attattcatt
     6721 cttgatctct ggaagcaatc attattatga ggatcatttt actttggaaa cactttcata
     6781 ataaagataa gtattaagag tgca
//
