LOCUS       NM_003358               3959 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.
ACCESSION   NM_003358
VERSION     NM_003358.3
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 3959)
  AUTHORS   Sato,Y., Osada,E., Ushiki,T., Maeda,T. and Manome,Y.
  TITLE     UDP-glucose ceramide glucosyltransferase specifically upregulated
            in plasmacytoid dendritic cells regulates type I interferon
            production upon CpG stimulation
  JOURNAL   Biochem Biophys Res Commun 733, 150703 (2024)
   PUBMED   39307111
  REMARK    GeneRIF: UDP-glucose ceramide glucosyltransferase specifically
            upregulated in plasmacytoid dendritic cells regulates type I
            interferon production upon CpG stimulation.
REFERENCE   2  (bases 1 to 3959)
  AUTHORS   La Monica,S., Vacondio,F., Eltayeb,K., Lodola,A., Volta,F.,
            Viglioli,M., Ferlenghi,F., Galvani,F., Galetti,M., Bonelli,M.,
            Fumarola,C., Cavazzoni,A., Flammini,L., Verze,M., Minari,R.,
            Petronini,P.G., Tiseo,M., Mor,M. and Alfieri,R.
  TITLE     Targeting glucosylceramide synthase induces antiproliferative and
            proapoptotic effects in osimertinib-resistant NSCLC cell models
  JOURNAL   Sci Rep 14 (1), 6491 (2024)
   PUBMED   38499619
  REMARK    GeneRIF: Targeting glucosylceramide synthase induces
            antiproliferative and proapoptotic effects in osimertinib-resistant
            NSCLC cell models.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3959)
  AUTHORS   Brazdis,R.M., von Zimmermann,C., Lenz,B., Kornhuber,J. and Muhle,C.
  TITLE     Peripheral Upregulation of Parkinson's Disease-Associated Genes
            Encoding alpha-Synuclein, beta-Glucocerebrosidase, and Ceramide
            Glucosyltransferase in Major Depression
  JOURNAL   Int J Mol Sci 25 (6), 3219 (2024)
   PUBMED   38542193
  REMARK    GeneRIF: Peripheral Upregulation of Parkinson's Disease-Associated
            Genes Encoding alpha-Synuclein, beta-Glucocerebrosidase, and
            Ceramide Glucosyltransferase in Major Depression.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3959)
  AUTHORS   Sutter,C.H., Azim,S., Wang,A., Bhuju,J., Simpson,A.S., Uberoi,A.,
            Grice,E.A. and Sutter,T.R.
  TITLE     Ligand Activation of the Aryl Hydrocarbon Receptor Upregulates
            Epidermal Uridine Diphosphate Glucose Ceramide Glucosyltransferase
            and Glucosylceramides
  JOURNAL   J Invest Dermatol 143 (10), 1964-1972 (2023)
   PUBMED   37004877
  REMARK    GeneRIF: Ligand Activation of the Aryl Hydrocarbon Receptor
            Upregulates Epidermal Uridine Diphosphate Glucose Ceramide
            Glucosyltransferase and Glucosylceramides.
REFERENCE   5  (bases 1 to 3959)
  AUTHORS   Komuro,M., Nagane,M., Endo,R., Nakamura,T., Miyamoto,T., Niwa,C.,
            Fukuyama,T., Harashima,H., Aihara,N., Kamiie,J., Suzuki,R. and
            Yamashita,T.
  TITLE     Glucosylceramide in T cells regulates the pathology of inflammatory
            bowel disease
  JOURNAL   Biochem Biophys Res Commun 599, 24-30 (2022)
   PUBMED   35168060
  REMARK    GeneRIF: Glucosylceramide in T cells regulates the pathology of
            inflammatory bowel disease.
REFERENCE   6  (bases 1 to 3959)
  AUTHORS   Watanabe,R., Wu,K., Paul,P., Marks,D.L., Kobayashi,T.,
            Pittelkow,M.R. and Pagano,R.E.
  TITLE     Up-regulation of glucosylceramide synthase expression and activity
            during human keratinocyte differentiation
  JOURNAL   J Biol Chem 273 (16), 9651-9655 (1998)
   PUBMED   9545298
REFERENCE   7  (bases 1 to 3959)
  AUTHORS   Ichikawa,S., Ozawa,K. and Hirabayashi,Y.
  TITLE     Assignment of a UDP-glucose:ceramide glucosyltransferase gene
            (UGCG) to human chromosome band 9q31 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 79 (3-4), 233-234 (1997)
   PUBMED   9605861
REFERENCE   8  (bases 1 to 3959)
  AUTHORS   Ichikawa,S., Sakiyama,H., Suzuki,G., Hidari,K.I. and Hirabayashi,Y.
  TITLE     Expression cloning of a cDNA for human ceramide glucosyltransferase
            that catalyzes the first glycosylation step of glycosphingolipid
            synthesis
  JOURNAL   Proc Natl Acad Sci U S A 93 (22), 12654 (1996)
   PUBMED   8901638
  REMARK    Correction to:[Proc Natl Acad Sci U S A. 1996 May
            14;93(10):4638-43. doi: 10.1073/pnas.93.10.4638.. PMID: 8643456]
REFERENCE   9  (bases 1 to 3959)
  AUTHORS   Ichikawa,S., Sakiyama,H., Suzuki,G., Hidari,K.I. and Hirabayashi,Y.
  TITLE     Expression cloning of a cDNA for human ceramide glucosyltransferase
            that catalyzes the first glycosylation step of glycosphingolipid
            synthesis
  JOURNAL   Proc Natl Acad Sci U S A 93 (10), 4638-4643 (1996)
   PUBMED   8643456
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 1996 Oct 29;93(22):12654. doi:
            10.1073/pnas.93.22.12654.. PMID: 8901638]
REFERENCE   10 (bases 1 to 3959)
  AUTHORS   Matsuo,N., Nomura,T. and Imokawa,G.
  TITLE     A rapid and simple assay method for UDP-glucose:ceramide
            glucosyltransferase
  JOURNAL   Biochim Biophys Acta 1116 (2), 97-103 (1992)
   PUBMED   1533793
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC038711.1, AL442066.11,
            D50840.1, AK314847.1 and BM052821.1.
            
            On Nov 22, 2018 this sequence version replaced NM_003358.2.
            
            Summary: This gene encodes an enzyme that catalyzes the first
            glycosylation step in the biosynthesis of glycosphingolipids, which
            are membrane components containing lipid and sugar moieties. The
            product of this reaction is glucosylceramide, which is the core
            structure of many glycosphingolipids. [provided by RefSeq, Dec
            2014].
            
            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 :: SRR1660803.161956.1,
                                           SRR1660807.159892.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374279.4/ ENSP00000363397.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-132               BC038711.1         49-180
            133-133             AL442066.11        7776-7776
            134-749             D50840.1           22-637
            750-1587            AK314847.1         403-1240
            1588-3453           AL442066.11        43828-45693
            3454-3959           BM052821.1         22-527              c
FEATURES             Location/Qualifiers
     source          1..3959
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.3"
     gene            1..3959
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /note="UDP-glucose ceramide glucosyltransferase"
                     /db_xref="GeneID:7357"
                     /db_xref="HGNC:HGNC:12524"
                     /db_xref="MIM:602874"
     exon            1..500
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             403..1587
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /EC_number="2.4.1.80"
                     /note="glucosylceramide synthase;
                     UDP-glucose:N-acylsphingosine D-glucosyltransferase;
                     glycosylceramide synthase"
                     /codon_start=1
                     /product="ceramide glucosyltransferase"
                     /protein_id="NP_003349.1"
                     /db_xref="CCDS:CCDS6782.1"
                     /db_xref="GeneID:7357"
                     /db_xref="HGNC:HGNC:12524"
                     /db_xref="MIM:602874"
                     /translation="MALLDLALEGMAVFGFVLFLVLWLMHFMAIIYTRLHLNKKATDK
                     QPYSKLPGVSLLKPLKGVDPNLINNLETFFELDYPKYEVLLCVQDHDDPAIDVCKKLL
                     GKYPNVDARLFIGGKKVGINPKINNLMPGYEVAKYDLIWICDSGIRVIPDTLTDMVNQ
                     MTEKVGLVHGLPYVADRQGFAATLEQVYFGTSHPRYYISANVTGFKCVTGMSCLMRKD
                     VLDQAGGLIAFAQYIAEDYFMAKAIADRGWRFAMSTQVAMQNSGSYSISQFQSRMIRW
                     TKLRINMLPATIICEPISECFVASLIIGWAAHHVFRWDIMVFFMCHCLAWFIFDYIQL
                     RGVQGGTLCFSKLDYAVAWFIRESMTIYIFLSALWDPTISWRTGRYRLRCGGTAEEIL
                     DV"
     exon            501..642
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            643..745
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            746..847
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            848..960
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1139
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1226
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..1416
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..3959
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3935..3940
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /note="hexamer: AATAAA"
     polyA_site      3959
                     /gene="UGCG"
                     /gene_synonym="GCS; GLCT1"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcgga gctgcggcgg tggagctgct cggccgggag cccggcggcg agacggagag
       61 gcggcggagg tgcccgcgcg cagggtctgg tgggcggccg cgaggctcgg gagaggcgaa
      121 ccggagcgcg ggaccgcggt cgccccgacc agagccggga gaccgcagca cccgcagccg
      181 cccgcgagcg cgccgaagac agcgcgcagg cgagagcgcg cgggcggggg cgcgcaggcc
      241 ctgcccgccc cttccgtccc cacccccctc cgccctttcc tctccccacc ttcctctcgc
      301 ctcccgcgcc cccgcaccgg gcgcccaccc tgtcctcctc ctgcgggagc gttgtccgtg
      361 ttggcggccg cagcgggccg ggccggtccg gcgggccggg ggatggcgct gctggacctg
      421 gccttggagg gaatggccgt cttcgggttc gtcctcttct tggtgctgtg gctgatgcat
      481 ttcatggcta tcatctacac ccgattacac ctcaacaaga aggcaactga caaacagcct
      541 tatagcaagc tcccaggtgt ctctcttctg aaaccactga aaggggtaga tcctaactta
      601 atcaacaacc tggaaacatt ctttgaattg gattatccca aatatgaagt gctcctttgt
      661 gtacaagatc atgatgatcc agccattgat gtatgtaaga agcttcttgg aaaatatcca
      721 aatgttgatg ctagattgtt tataggtggc aaaaaagttg gcattaatcc taaaattaat
      781 aatttaatgc caggatatga agttgcaaag tatgatctta tatggatttg tgatagtgga
      841 ataagagtaa ttccagatac gcttactgac atggtgaatc aaatgacaga aaaagtaggc
      901 ttggttcacg ggctgcctta cgtagcagac agacagggct ttgctgccac cttagagcag
      961 gtatattttg gaacttcaca tccaagatac tatatctctg ccaatgtaac tggtttcaaa
     1021 tgtgtgacag gaatgtcttg tttaatgaga aaagatgtgt tggatcaagc aggaggactt
     1081 atagcttttg ctcagtacat tgccgaagat tactttatgg ccaaagcgat agctgaccga
     1141 ggttggaggt ttgcaatgtc cactcaagtt gcaatgcaaa actctggctc atattcaatt
     1201 tctcagtttc aatccagaat gatcaggtgg accaaactac gaattaacat gcttcctgct
     1261 acaataattt gtgagccaat ttcagaatgc tttgttgcca gtttaattat tggatgggca
     1321 gcccaccatg tgttcagatg ggatattatg gtatttttca tgtgtcattg cctggcatgg
     1381 tttatatttg actacattca actcaggggt gtccagggtg gcacactgtg tttttcaaaa
     1441 cttgattatg cagtcgcctg gttcatccgc gaatccatga caatatacat ttttttgtct
     1501 gcattatggg acccaactat aagctggaga actggtcgct acagattacg ctgtgggggt
     1561 acagcagagg aaatcctaga tgtataacta cagctttgtg actgtatata aaggaaaaaa
     1621 gagaagtatt ataaattatg tttatataaa tgcttttaaa aatctacctt ctgtagtttt
     1681 atcacatgta tgttttggta tctgttcttt aatttatttt tgcatggcac ttgcatctgt
     1741 gaaaaaaaaa aaaaacacat ctgtagtctt ggccaaatga tacactttat tttgtggaag
     1801 tagagaatca agagaattgg ttctaggaac ctgggttcgt tcatcattgt tgtttatttt
     1861 tttaaaataa ataaataaat atatatatag atgctctgca acaaactctg tgacagtatc
     1921 cttcagtaga gaaagtttct tacttgtgag tacactcttt tagaacattt acgggtggca
     1981 gcagctttgc tttagagttt agaagataat agaaggaatg actattcatg tccaaagtga
     2041 atggttttgt gcagtgaaca acacatggcg aggtactaac tgagaaactt tttcatgctt
     2101 tatgcctacc tcttgtagtt gttgcagagc aaatataaat tgtaataaga tagctaggcc
     2161 ttgcagaaac aaacagaaaa acttaaaaaa aaatgatata agagctggag tctagtattt
     2221 atatgaatct gtgagagata atttttttgg tctcactgca atgaaccaaa agcggctgag
     2281 tttggttttt aattgtagcc atgtattgaa ggcatctttt tgaccaactc ttgttggttc
     2341 tgtcttgaac cattgttaat cactgtgctg taattagtat agctaaatct tttccttcct
     2401 tgctcctccc ccagcccacc ccgtcttccc ttaacatttt ttcagggggg gttgggagtg
     2461 gtttcatttt agtgtgagtg gatgttttga tagttgtaag gaaaaaatgc atttcagaca
     2521 catttcacac atgagctatt ttcttacaca gtatgtctta ttgttaataa gaatgtaatt
     2581 tcatgataca agtatttaat acctttttta agtcagtaaa tattctagcc atcaataaat
     2641 tgcagtagag tattaagagg ggacaggatg agtttactct taaaattaat cagtatcaaa
     2701 ctaagtctac tgtgtgtgtt tttttttttt gttttttgtt tttgtttgtt tactattata
     2761 gtaagtctag tcttatttaa attggatttt tgtattcaag tttatatgac aaaatagact
     2821 agatcagcgc tggttgtaaa tgcatgctgt acctcactgt tttctcccca tcatgccgct
     2881 aaacttgctc gccaggttgt gcttaacttg tggtgaactg gacttgattc tgttttgttt
     2941 tgttttttta aaaaaaaaaa acaaaaatgt aagggacagt gcataagcct tttctttgtt
     3001 aagtagtggt gttttgcttt ttcttcagga ttggatggca tgttgtccac aggaatgcct
     3061 actgcagggc taacactggc aatatggcag ctttaaattc tgagttacta cagtctccat
     3121 gtcaaagcat aatgtgtagc atatcagcaa taactacata tttatagaaa acactttttc
     3181 actttactga gccaattcat ttaattgtca aatgtctata tccatggttt aaatggcaac
     3241 atatctataa gtatgtatac acattatatt taagcttttc tctgggccaa actgcttcat
     3301 ccttttttct ttcttttttt ttttttttag ccttatgatg aatttgtttg aagggcattt
     3361 tctttatgaa caaaggcttg gatgcatatt cctttctttc tgtgaatggg tattattccc
     3421 tgaggaaagt tgcacagtga aaaccagtct ggttgtgacc cactacatgt tttgttttta
     3481 atcactatta cctgagttga actttgctca ccatgtttgt acttgttggt ctgtttaatg
     3541 aagtttggtt gatgccatcc tttgcactgc cgaagcgtaa tcttgtgtat tacttagctc
     3601 tctgctgatc tcagtatgga cagtgtaaca acaaaaccaa aatggctgga cagacttctt
     3661 gtgttttgta aatataaact aggacagttc tgtaggtttg ttcagtgtgc tagtggagta
     3721 tttccttaat gtaaaacttc acttaacaga gagattcttt gtttagcaag cttggagtga
     3781 tgataaaatg gtaagaaata atataaatgt tgaagaaagc atcacaacag aactatagga
     3841 gtctaaattt aataaatctt taaaaaaaac cagtgtctag aatatatacc atgttttatt
     3901 atttaaaatc attgtcttaa atttttgttc aaaaaataaa aatttgaata caatcaaaa
//
