LOCUS       NM_147190               2507 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens ceramide synthase 5 (CERS5), transcript variant 1,
            mRNA.
ACCESSION   NM_147190
VERSION     NM_147190.5
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 2507)
  AUTHORS   Liu,J., Koutalos,Y. and Fan,J.
  TITLE     Lack of ceramide synthase 5 protects retinal ganglion cells from
            ocular hypertensive injury
  JOURNAL   Exp Eye Res 247, 110061 (2024)
   PUBMED   39182597
  REMARK    GeneRIF: Lack of ceramide synthase 5 protects retinal ganglion
            cells from ocular hypertensive injury.
REFERENCE   2  (bases 1 to 2507)
  AUTHORS   Wang,S., Yang,J., Huang,W., Yu,Z., Mao,Y., Feng,Y. and Chen,J.
  TITLE     Identification of CERS5 as a molecular biomarker in pan-cancer
            through multiple omics integrative analysis
  JOURNAL   Cell Signal 116, 111054 (2024)
   PUBMED   38244710
  REMARK    GeneRIF: Identification of CERS5 as a molecular biomarker in
            pan-cancer through multiple omics integrative analysis.
REFERENCE   3  (bases 1 to 2507)
  AUTHORS   Chen,J., Hao,Y., Xu,P., Bian,D., Han,L., Wu,X., Zhuang,Z., Wang,J.
            and Luo,Y.
  TITLE     CerS5 deficiency promotes liver fibrosis development in
            non-alcoholic fatty liver disease
  JOURNAL   Biochem Biophys Res Commun 667, 120-126 (2023)
   PUBMED   37216827
REFERENCE   4  (bases 1 to 2507)
  AUTHORS   Brachtendorf,S., Wanger,R.A., Birod,K., Thomas,D., Trautmann,S.,
            Wegner,M.S., Fuhrmann,D.C., Brune,B., Geisslinger,G. and Grosch,S.
  TITLE     Chemosensitivity of human colon cancer cells is influenced by a
            p53-dependent enhancement of ceramide synthase 5 and induction of
            autophagy
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1863 (10), 1214-1227
            (2018)
   PUBMED   30059758
  REMARK    GeneRIF: in p53(wt) colon cancer cells chemosensitivity against
            oxaliplatin or 5-fluorouracil could be enhanced by downregulation
            of CerS5 expression leading to reduced autophagy and mitochondrial
            respiration.
REFERENCE   5  (bases 1 to 2507)
  AUTHORS   Tidhar,R., Zelnik,I.D., Volpert,G., Ben-Dor,S., Kelly,S.,
            Merrill,A.H. Jr. and Futerman,A.H.
  TITLE     Eleven residues determine the acyl chain specificity of ceramide
            synthases
  JOURNAL   J Biol Chem 293 (25), 9912-9921 (2018)
   PUBMED   29632068
REFERENCE   6  (bases 1 to 2507)
  AUTHORS   Kitatani,K., Idkowiak-Baldys,J., Bielawski,J., Taha,T.A.,
            Jenkins,R.W., Senkal,C.E., Ogretmen,B., Obeid,L.M. and Hannun,Y.A.
  TITLE     Protein kinase C-induced activation of a ceramide/protein
            phosphatase 1 pathway leading to dephosphorylation of p38 MAPK
  JOURNAL   J Biol Chem 281 (48), 36793-36802 (2006)
   PUBMED   17030510
  REMARK    GeneRIF: accumulation of C(16)-ceramide in mitochondria formed from
            the protein kinase C-dependent salvage pathway results at least in
            part from the action of longevity-assurance homologue 5, and the
            generated ceramide modulates the p38 cascade via PP1
REFERENCE   7  (bases 1 to 2507)
  AUTHORS   Spassieva,S., Seo,J.G., Jiang,J.C., Bielawski,J.,
            Alvarez-Vasquez,F., Jazwinski,S.M., Hannun,Y.A. and Obeid,L.M.
  TITLE     Necessary role for the Lag1p motif in (dihydro)ceramide synthase
            activity
  JOURNAL   J Biol Chem 281 (45), 33931-33938 (2006)
   PUBMED   16951403
REFERENCE   8  (bases 1 to 2507)
  AUTHORS   Lahiri,S. and Futerman,A.H.
  TITLE     LASS5 is a bona fide dihydroceramide synthase that selectively
            utilizes palmitoyl-CoA as acyl donor
  JOURNAL   J Biol Chem 280 (40), 33735-33738 (2005)
   PUBMED   16100120
  REMARK    GeneRIF: study identifies LASS5 as a genuine dihydroceramide
            synthase and demonstrates that mammalian dihydroceramide synthases
            do not require additional subunits for their activity
REFERENCE   9  (bases 1 to 2507)
  AUTHORS   Riebeling,C., Allegood,J.C., Wang,E., Merrill,A.H. Jr. and
            Futerman,A.H.
  TITLE     Two mammalian longevity assurance gene (LAG1) family members, trh1
            and trh4, regulate dihydroceramide synthesis using different fatty
            acyl-CoA donors
  JOURNAL   J Biol Chem 278 (44), 43452-43459 (2003)
   PUBMED   12912983
REFERENCE   10 (bases 1 to 2507)
  AUTHORS   Winter,E. and Ponting,C.P.
  TITLE     TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing
            domains?
  JOURNAL   Trends Biochem Sci 27 (8), 381-383 (2002)
   PUBMED   12151215
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139016.12, AK026014.1,
            AK300937.1 and AC074032.24.
            
            On Aug 31, 2019 this sequence version replaced NM_147190.4.
            
            Summary: This gene encodes a protein that belongs to the TLC (TRAM,
            LAG1 and CLN8 homology domains) family of proteins. The encoded
            protein functions in the synthesis of ceramide, a lipid molecule
            that is involved in a several cellular signaling pathways.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: AK026014.1, SRR14038196.1492654.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317551.12/ ENSP00000325485.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                AC139016.12        9579-9608
            31-294              AK026014.1         1-264
            295-1381            AK300937.1         435-1521
            1382-2507           AC074032.24        18870-19995         c
FEATURES             Location/Qualifiers
     source          1..2507
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..2507
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /note="ceramide synthase 5"
                     /db_xref="GeneID:91012"
                     /db_xref="HGNC:HGNC:23749"
                     /db_xref="MIM:615335"
     exon            1..269
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1251
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /EC_number="2.3.1.24"
                     /EC_number="2.3.1.291"
                     /note="isoform 1 is encoded by transcript variant 1; LAG1
                     homolog, ceramide synthase 5; sphingoid base
                     N-palmitoyltransferase CERS5; LAG1 longevity assurance
                     homolog 5; TRAM homolog 4; sphingosine N-acyltransferase
                     CERS5"
                     /codon_start=1
                     /product="ceramide synthase 5 isoform 1"
                     /protein_id="NP_671723.1"
                     /db_xref="CCDS:CCDS8801.1"
                     /db_xref="GeneID:91012"
                     /db_xref="HGNC:HGNC:23749"
                     /db_xref="MIM:615335"
                     /translation="MATAAQGPLSLLWGWLWSERFWLPENVSWADLEGPADGYGYPRG
                     RHILSVFPLAAGIFFVRLLFERFIAKPCALCIGIEDSGPYQAQPNAILEKVFISITKY
                     PDKKRLEGLSKQLDWNVRKIQCWFRHRRNQDKPPTLTKFCESMWRFTFYLCIFCYGIR
                     FLWSSPWFWDIRQCWHNYPFQPLSSGLYHYYIMELAFYWSLMFSQFTDIKRKDFLIMF
                     VHHLVTIGLISFSYINNMVRVGTLIMCLHDVSDFLLEAAKLANYAKYQRLCDTLFVIF
                     SAVFMVTRLGIYPFWILNTTLFESWEIIGPYASWWLLNGLLLTLQLLHVIWSYLIARI
                     ALKALIRGKVSKDDRSDVESSSEEEDVTTCTKSPCDSSSSNGANRVNGHMGGSYWAEE
                     "
     exon            270..375
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     exon            376..506
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     exon            507..564
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     exon            565..615
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     exon            616..708
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     exon            709..837
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     exon            838..944
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     exon            945..1101
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..2507
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1979..1984
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /note="hexamer: ATTAAA"
     polyA_site      1998
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /note="major polyA site"
     regulatory      2490..2495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
                     /note="hexamer: AATAAA"
     polyA_site      2507
                     /gene="CERS5"
                     /gene_synonym="LASS5; Trh4"
ORIGIN      
        1 ctccccgcgg gttccgttgg ctgtggcggc agctgacgct tgtggcggcg gtggcttcgg
       61 ggtgggcgta agatggcgac agcagcgcag ggacccctaa gcttgctgtg gggctggctg
      121 tggagcgagc gcttctggct acccgagaac gtgagctggg ctgatctgga ggggccggcc
      181 gacggctacg gttacccccg cggccggcac atcctctcgg tgttcccgct ggcggcgggc
      241 atcttcttcg tgaggctgct cttcgagcga tttattgcca aaccctgtgc actctgtatt
      301 ggcatcgagg acagtggtcc ttatcaggcc caacccaatg ccatccttga aaaggtgttc
      361 atatctatta ccaagtatcc tgataagaaa aggctggagg gcctgtcaaa gcagctggat
      421 tggaatgtcc gaaaaatcca atgctggttt cgccatcgga ggaatcagga caagccccca
      481 acgcttacta aattctgtga aagcatgtgg agattcacat tttatttatg tatattctgc
      541 tatggaatta gatttctctg gtcgtcacct tggttctggg acatccgaca gtgctggcat
      601 aactatccat ttcagcctct ttcaagtggg ctttatcact attatatcat ggaattggcc
      661 ttctattggt cccttatgtt ttctcagttt acagacatta aaagaaagga cttcctgatc
      721 atgtttgtgc atcacttggt caccattggg cttatctcct tctcctacat caacaatatg
      781 gttcgagtgg gaactctgat catgtgtcta catgatgtct cagacttctt gctggaggca
      841 gccaaactgg ccaattatgc caagtatcag cggctctgtg acaccctttt tgtgatcttc
      901 agtgctgttt ttatggttac acgactagga atctatccat tctggattct gaacacgacc
      961 ctctttgaga gttgggagat aatcgggcct tatgcttcat ggtggctcct caatggcctg
     1021 ctgctgaccc tacagcttct gcatgtcatc tggtcctacc taattgcacg gattgctttg
     1081 aaagccttga tcaggggaaa ggtatcgaag gatgatcgca gtgatgtgga gagcagctca
     1141 gaggaagaag atgtgaccac ctgcacaaaa agtccctgtg acagtagctc cagcaatggt
     1201 gccaatcggg tgaatggtca catgggaggc agctactggg ctgaagagta aggtggttgc
     1261 tatagggact tcagcacaca tggacttgta gggccactgg caacatactc ctcttggccc
     1321 ttcccatatc tactcttctg tgattgggag actgcaaggc actgaggagt atcaaagaag
     1381 caaatatttt cactttgaaa gaaaactgcc attttgtatt taatagcctc caggttcttt
     1441 cagtaatgtt atttgctctg tgtgtttttg tgtgtttgtt gatgtgcgtt tgtgcatatg
     1501 cgtgagtttc attgccgggg ttggggcaca attgtggact ggggccatga ggccttccct
     1561 ggtccccact gaacccacct tagttccaca tttggctgca tcttgaatta tgccaactcc
     1621 agacttctcc ttcttttttg cccttggctc ttgacactct aaacccctgg accatctgaa
     1681 tggagcagcc aagttcagtc ccacatttct gtactgttcc tctttcacag ctggaatatg
     1741 tcacatgatg aagttgtata gaaacagaac catggatgga tggccaggat tgccgtggtc
     1801 cctagctaga tccccttcct atcaatcacc tgatagcaac agggacagct gccaataccc
     1861 tgctctttac tcaatggtac ccagggaggg agcatgggaa gagggtgagc tgagggctgg
     1921 aggagggcaa cagccactgg gtgagctgtt cacggtctta tactattgtt tgtttgtgat
     1981 taaaagtgct tcaacccacc tctactgtct caacctcttc agtgactcta tccgcagttt
     2041 cctgaatcca taagctaatt aagagctttt ccaggtctga ttcagaaggc cctggacacc
     2101 aaatttttcc tttctgtgca tggtaggaag agtcagccag ggtgcttaca ttttagagct
     2161 ttatgttttt taagaaaaag aagaatcact tgaacctggg aggcagaggt tgcagcgagc
     2221 caagatcgtg ccactgcact ccagcctggg cgacagaccg agactctgtc taaaaaaaaa
     2281 aaaaaaaaaa aaaattaggt catactttta gttcctcaac ttgctatatt gaatagacta
     2341 atattgttgt gaaatatgaa tgaatatgct tttgaaagtc agatgagaaa tgtattttgc
     2401 cttctgaaat ttgaacaatt gccttgttaa tacaaactgg attggttggt gtagctaatc
     2461 tgacaaaaga tgcaattgga taaaacaata ataaaaataa taactaa
//
