LOCUS       NM_001378789            3699 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ceramide synthase 3 (CERS3), transcript variant 5,
            mRNA.
ACCESSION   NM_001378789
VERSION     NM_001378789.1
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 3699)
  AUTHORS   Jan,H., Wasif,N., Naqvi,S.K., Ullah,I. and Ahmad,W.
  TITLE     A novel homozygous splice site variant in CERS3 causes autosomal
            recessive congenital ichthyosis
  JOURNAL   Congenit Anom (Kyoto) 63 (4), 127-128 (2023)
   PUBMED   37128664
  REMARK    GeneRIF: A novel homozygous splice site variant in CERS3 causes
            autosomal recessive congenital ichthyosis.
REFERENCE   2  (bases 1 to 3699)
  AUTHORS   Cai,J., Liu,Y., Li,Q., Wen,Z., Li,Y. and Chen,X.
  TITLE     Ceramide synthase 3 affects invasion and metastasis of
            hepatocellular carcinoma via the SMAD6 gene
  JOURNAL   Zhong Nan Da Xue Xue Bao Yi Xue Ban 47 (5), 588-599 (2022)
   PUBMED   35753729
  REMARK    GeneRIF: Ceramide synthase 3 affects invasion and metastasis of
            hepatocellular carcinoma via the SMAD6 gene.', trans '3SMAD6.
REFERENCE   3  (bases 1 to 3699)
  AUTHORS   Takeda,S., Terazawa,S., Shimoda,H. and Imokawa,G.
  TITLE     beta-Sitosterol 3-O-D-glucoside increases ceramide levels in the
            stratum corneum via the up-regulated expression of ceramide
            synthase-3 and glucosylceramide synthase in a reconstructed human
            epidermal keratinization model
  JOURNAL   PLoS One 16 (3), e0248150 (2021)
   PUBMED   33684145
  REMARK    GeneRIF: beta-Sitosterol 3-O-D-glucoside increases ceramide levels
            in the stratum corneum via the up-regulated expression of ceramide
            synthase-3 and glucosylceramide synthase in a reconstructed human
            epidermal keratinization model.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3699)
  AUTHORS   Muthusamy,K., Macke,E.L., Klee,E.W., Tebben,P.J., Hand,J.L.,
            Hasadsri,L., Marcou,C.A. and Schimmenti,L.A.
  TITLE     Congenital ichthyosis in Prader-Willi syndrome associated with
            maternal chromosome 15 uniparental disomy: Case report and review
            of autosomal recessive conditions unmasked by UPD
  JOURNAL   Am J Med Genet A 182 (10), 2442-2449 (2020)
   PUBMED   32815268
  REMARK    GeneRIF: Congenital ichthyosis in Prader-Willi syndrome associated
            with maternal chromosome 15 uniparental disomy: Case report and
            review of autosomal recessive conditions unmasked by UPD.
REFERENCE   5  (bases 1 to 3699)
  AUTHORS   Rabionet,M., Bayerle,A., Jennemann,R., Heid,H., Fuchser,J.,
            Marsching,C., Porubsky,S., Bolenz,C., Guillou,F., Grone,H.J.,
            Gorgas,K. and Sandhoff,R.
  TITLE     Male meiotic cytokinesis requires ceramide synthase 3-dependent
            sphingolipids with unique membrane anchors
  JOURNAL   Hum Mol Genet 24 (17), 4792-4808 (2015)
   PUBMED   26045466
  REMARK    GeneRIF: testis-specific SLs, which we also link to CerS3 in human
            testis, are quintessential for male fertility.
REFERENCE   6  (bases 1 to 3699)
  AUTHORS   Radner,F.P., Marrakchi,S., Kirchmeier,P., Kim,G.J., Ribierre,F.,
            Kamoun,B., Abid,L., Leipoldt,M., Turki,H., Schempp,W., Heilig,R.,
            Lathrop,M. and Fischer,J.
  TITLE     Mutations in CERS3 cause autosomal recessive congenital ichthyosis
            in humans
  JOURNAL   PLoS Genet 9 (6), e1003536 (2013)
   PUBMED   23754960
  REMARK    GeneRIF: these data present a novel pathway involved in ARCI
            development and, moreover, provide the first evidence that CERS3
            plays an essential role in human sphingolipid metabolism for the
            maintenance of epidermal lipid homeostasis.
            Erratum:[PLoS Genet. 2013 Jun;9(6):
            doi/10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe]
REFERENCE   7  (bases 1 to 3699)
  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 3699)
  AUTHORS   Rabionet,M., van der Spoel,A.C., Chuang,C.C., von
            Tumpling-Radosta,B., Litjens,M., Bouwmeester,D., Hellbusch,C.C.,
            Korner,C., Wiegandt,H., Gorgas,K., Platt,F.M., Grone,H.J. and
            Sandhoff,R.
  TITLE     Male germ cells require polyenoic sphingolipids with complex
            glycosylation for completion of meiosis: a link to ceramide
            synthase-3
  JOURNAL   J Biol Chem 283 (19), 13357-13369 (2008)
   PUBMED   18308723
REFERENCE   9  (bases 1 to 3699)
  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   10 (bases 1 to 3699)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301593
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC027020.12 and AC015723.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene is a member of the ceramide synthase family of
            genes. The ceramide synthase enzymes regulate sphingolipid
            synthesis by catalyzing the formation of ceramides from sphingoid
            base and acyl-coA substrates. This family member is involved in the
            synthesis of ceramides with ultra-long-chain acyl moieties
            (ULC-Cers), important to the epidermis in its role in creating a
            protective barrier from the environment. The protein encoded by
            this gene has also been implicated in modification of the lipid
            structures required for spermatogenesis. Mutations in this gene
            have been associated with male fertility defects, and epidermal
            defects, including ichthyosis. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Aug 2015].
            
            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 :: BC034970.1, ERR279869.415.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000679737.1/ ENSP00000506641.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-138               AC027020.12        46705-46842
            139-228             AC027020.12        53899-53988
            229-402             AC027020.12        73805-73978
            403-517             AC027020.12        84724-84838
            518-636             AC027020.12        90987-91105
            637-694             AC027020.12        95609-95666
            695-745             AC027020.12        96177-96227
            746-838             AC027020.12        99477-99569
            839-967             AC027020.12        102603-102731
            968-1074            AC027020.12        106171-106277
            1075-1228           AC015723.8         434-587
            1229-3699           AC015723.8         53615-56085
FEATURES             Location/Qualifiers
     source          1..3699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     gene            1..3699
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /note="ceramide synthase 3"
                     /db_xref="GeneID:204219"
                     /db_xref="HGNC:HGNC:23752"
                     /db_xref="MIM:615276"
     exon            1..138
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            139..228
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            229..402
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             230..1381
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /EC_number="2.3.1.24"
                     /EC_number="2.3.1.297"
                     /EC_number="2.3.1.298"
                     /note="isoform 2 is encoded by transcript variant 5; LAG1
                     homolog, ceramide synthase 3; LAG1 longevity assurance
                     homolog 3; dihydroceramide synthase 3; sphingosine
                     N-acyltransferase CERS3; very-long-chain ceramide synthase
                     CERS3; ultra-long-chain ceramide synthase CERS3"
                     /codon_start=1
                     /product="ceramide synthase 3 isoform 2"
                     /protein_id="NP_001365718.1"
                     /db_xref="CCDS:CCDS10384.1"
                     /db_xref="GeneID:204219"
                     /db_xref="HGNC:HGNC:23752"
                     /db_xref="MIM:615276"
                     /translation="MFWTFKEWFWLERFWLPPTIKWSDLEDHDGLVFVKPSHLYVTIP
                     YAFLLLIIRRVFEKFVASPLAKSFGIKETVRKVTPNTVLENFFKHSTRQPLQTDIYGL
                     AKKCNLTERQVERWFRSRRNQERPSRLKKFQEACWRFAFYLMITVAGIAFLYDKPWLY
                     DLWEVWNGYPKQPLLPSQYWYYILEMSFYWSLLFRLGFDVKRKDFLAHIIHHLAAISL
                     MSFSWCANYIRSGTLVMIVHDVADIWLESAKMFSYAGWTQTCNTLFFIFSTIFFISRL
                     IVFPFWILYCTLILPMYHLEPFFSYIFLNLQLMILQVLHLYWGYYILKMLNRCIFMKS
                     IQDVRSDDEDYEEEEEEEEEEATKGKEMDCLKNGLRAERHLIPNGQHGH"
     exon            403..517
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            518..636
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            637..694
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            695..745
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            746..838
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            839..967
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1074
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1075..1228
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..3699
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1553..1558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /note="hexamer: AATATA"
     polyA_site      1583
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /note="major polyA site"
     regulatory      3677..3682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /note="hexamer: AATAAA"
     polyA_site      3699
                     /gene="CERS3"
                     /gene_synonym="ARCI9; LASS3"
                     /note="major polyA site"
ORIGIN      
        1 gaaggaattt caggtcttac acagagatga gttgtgctgc tctctgagga gaacgaagct
       61 ggttggaacg ttggaagctg ctctctgact acacttcaca agcaaggggc accttttgtg
      121 gactgacatt tcagaaaggg atgttgtgaa acaaaagctg acatttatat atatatacat
      181 atatacagta tttgagttcc tcagtagaaa gctatcatat atactcagaa tgttttggac
      241 gtttaaagaa tggttctggt tggaaagatt ctggcttcct ccaacaataa agtggtcaga
      301 tcttgaggat cacgatggac tcgtctttgt aaaaccttct catttatacg tgacaattcc
      361 atatgctttt ctcttgctga ttatcagacg tgtatttgaa aaatttgttg cttcacctct
      421 agcaaaatca tttggcatta aagagacagt tcgaaaggtt acaccaaata ctgtcttaga
      481 gaattttttc aaacattcca caaggcaacc attgcaaact gatatttatg gactggcaaa
      541 gaagtgtaac ttgacggagc gccaggtgga aagatggttt aggagtcggc ggaatcaaga
      601 gaggccttcc aggctgaaga aattccagga agcttgctgg agatttgcat tttacttaat
      661 gatcactgtt gctggaattg cgtttcttta tgataaacct tggctatatg acttatggga
      721 ggtttggaat ggctatccca aacagcccct gctgccatcc cagtactggt actacatttt
      781 agaaatgagt ttttattggt ctctgttatt tagacttggc tttgatgtca agagaaagga
      841 ttttctagct catatcatcc accacctggc tgctattagt ctgatgagct tctcttggtg
      901 tgctaattat attcgcagtg ggaccctcgt gatgattgta cacgatgtgg ctgacatttg
      961 gctggagtct gctaagatgt tttcttatgc tggatggacg cagacctgta acaccctgtt
     1021 tttcatcttc tccaccatat ttttcatcag ccgcctcatt gtttttcctt tctggatttt
     1081 atattgcacg ctgatcttgc ctatgtatca cctcgagcct ttcttttcat acatcttcct
     1141 caacctacag ctcatgatct tgcaggtcct tcacctttac tggggttatt acatcttgaa
     1201 gatgctcaac agatgtatat tcatgaagag catccaggat gtgaggagtg atgacgagga
     1261 ttatgaagag gaagaggaag aggaagaaga agaggctacc aaaggcaaag agatggattg
     1321 tttaaagaac ggcctcaggg ctgagaggca cctcattccc aatggccagc atggccatta
     1381 gctggaagcc tacaggactc ccatggcaca gcatgctgca agtactgttg gcagcctggc
     1441 ttccaggccc cacaccgacc ccacattctg cccttccctc tttctcacca ccgccttccc
     1501 tcccacctaa gatgtgttta ccaaaatgtt gttaacttgt gttaaaatgt taaatataag
     1561 catgcccatg gatttttact gcagttagga ctcagactgg tcaaagattt caaagatttc
     1621 tccacagaac cgtctcagtt ctaattgcac tccctcatgc atgtcacttt ctcaggggct
     1681 cgctttgtta tagacccttt cgcctcgcca ccttgcctgt cctcaggacg ctttcacagg
     1741 tgctaagtga tctcattttt cccaggtgtg tttggccaca aagagcagct tctttctcaa
     1801 aatgagttag aagtggcagt gggacaggag cggaaggacc acaccaggag acacttccat
     1861 cctgaagctt aggtgcctca tctccacagg gcggtggcag tccctgcctg ccaccccaca
     1921 gggttacagc aaggattaag tgagatcaca gaagtttaag tacacactgt caaccgtggg
     1981 gtcatcgtga accaacccac tttgcactgt ttgggagaca gaaacctggc taaacatggc
     2041 actgcaatgg gcctgaacaa aaggcagaat ctttaaaaat tcctcttaaa tgactctgga
     2101 gatacctgga aatgaaagtg ccaagaaagg tgttccattt tatttgctaa ctatttatgc
     2161 attagctccc caagggtcat tctcagattc tcctggaatt cttctccctc aggacccatg
     2221 gttcaaggaa ggaagcttag gccctgttcc ttcctgtcct ttgctggtct ttcccttttt
     2281 tcctttctag gagggaagct tctgtgctgc tgccctgagc ccttccttca ggccagcaca
     2341 gtacctgggg acctccacgg gggaatggga tccaggccag gttgcttgct gagcctcatc
     2401 acccaggagg cctgagcctc tggggagggc acgcatgtac actgccagac ccaggggaga
     2461 tcttgggaac agaggatgct acgtgatttc ctctggcttc caacccaatc agcctgcatc
     2521 acagtgaaac acaacacaaa aggccataaa aggcataccc ctgagaaatg tttaagggca
     2581 ggtgctagag tcagtgccag ctccctggga ggagggatag ggacgggcag atcagtagcc
     2641 agcttgtcct caccctccgg aagggagcac cggagaagac ttgcacacgt ccctgcctcc
     2701 cttgcggcct tgtcaccaga gggacacatc tcctgggcac aatgtgcagg gctgacctgg
     2761 gagacttctc aggtggctgc tggctgagga gaggccaggc cttcccaagg aagaccctga
     2821 gtaaaatctg catctgtcct caccacctgg cacagtctct cataacggtc agattttgta
     2881 tgttcatcct atttattcag gggctcgtac tagaaagcca caggagaggt cggcttgtag
     2941 ggactggaaa atcagcccca agcagagcag ctgcagggcc cctggagccg gaaggacact
     3001 gcacagaaca gactgcgtta ttgttatttt taaataaaaa tatacatttg aaaccttaag
     3061 gctaaacaaa aataaacaaa aaatccttta gaattctttc cacaacaata tctctttctg
     3121 agaaattgtt acaaacaagg tcagattttc tctgtataac atttgctttt atgaggacaa
     3181 tatcatatgc attatatgca taatatgata ttataaatca aaatgcctgc acccacttta
     3241 gggtatagct attgacttat tattaatatt atattattat tattttgctg gaagaaggtc
     3301 acactaagat ataatttttt atgttttcag ttaacggtat gctttcttct ttgcttattt
     3361 ggtttttgtc tctgtaccaa atatcttctt gcttaaggta gaaaagtatt tgtttacctc
     3421 tatctccagt tttttttctt atttgaatgt tgaaggtaaa attgatatac caattttaac
     3481 tatttctgat acagctgaaa gcactaaact acttcataag aagtagatac tcatttttgt
     3541 aacactattt agggcttttg tggttaattt taaaggaaac cactctttct acaggaaaca
     3601 agggctcagg attcttcaga tgaccttata aaaatgcagt ccacagtgct atcaatattg
     3661 taacagtaat gactacaata aagccaaaag tccagtgta
//
