LOCUS       NM_001128174            3733 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant
            1, mRNA.
ACCESSION   NM_001128174
VERSION     NM_001128174.3
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 3733)
  AUTHORS   Ji,J., Xie,M., Qian,Q., Xu,Y., Shi,W., Chen,Z., Ren,D., Liu,W.,
            He,X., Lv,M., Ma,J., Liu,W., Li,A. and Liu,B.
  TITLE     SOX9-mediated UGT8 expression promotes glycolysis and maintains the
            malignancy of non-small cell lung cancer
  JOURNAL   Biochem Biophys Res Commun 587, 139-145 (2022)
   PUBMED   34872002
  REMARK    GeneRIF: SOX9-mediated UGT8 expression promotes glycolysis and
            maintains the malignancy of non-small cell lung cancer.
REFERENCE   2  (bases 1 to 3733)
  AUTHORS   Lemay,A.M., Courtemanche,O., Couttas,T.A., Jamsari,G., Gagne,A.,
            Bosse,Y., Joubert,P., Don,A.S. and Marsolais,D.
  TITLE     High FA2H and UGT8 transcript levels predict hydroxylated
            hexosylceramide accumulation in lung adenocarcinoma
  JOURNAL   J Lipid Res 60 (10), 1776-1786 (2019)
   PUBMED   31409741
  REMARK    GeneRIF: High FA2H and UGT8 transcript levels predict hydroxylated
            hexosylceramide accumulation in lung adenocarcinoma
REFERENCE   3  (bases 1 to 3733)
  AUTHORS   Cao,Q., Chen,X., Wu,X., Liao,R., Huang,P., Tan,Y., Wang,L., Ren,G.,
            Huang,J. and Dong,C.
  TITLE     Inhibition of UGT8 suppresses basal-like breast cancer progression
            by attenuating sulfatide-alphaVbeta5 axis
  JOURNAL   J Exp Med 215 (6), 1679-1692 (2018)
   PUBMED   29728441
  REMARK    GeneRIF: UGT8 is a potential prognostic indicator and druggable
            target of basal-like breast cancer.
REFERENCE   4  (bases 1 to 3733)
  AUTHORS   Al-Mahrouki,A., Giles,A., Hashim,A., Kim,H.C., El-Falou,A.,
            Rowe-Magnus,D., Farhat,G. and Czarnota,G.J.
  TITLE     Microbubble-based enhancement of radiation effect: Role of cell
            membrane ceramide metabolism
  JOURNAL   PLoS One 12 (7), e0181951 (2017)
   PUBMED   28746357
  REMARK    GeneRIF: An increase in the immunolabelling of ceramide was
            observed in cells where UDP glycosyltransferase 8 (UGT8) was
            down-regulated as opposed to cells where UGT8 was either not
            regulated or was up-regulated.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3733)
  AUTHORS   Tencomnao,T., Kapitonov,D., Bieberich,E. and Yu,R.K.
  TITLE     Transcriptional regulation of the human UDP-galactose:ceramide
            galactosyltransferase (hCGT) gene expression: functional role of
            GC-box and CRE
  JOURNAL   Glycoconj J 20 (5), 339-351 (2004)
   PUBMED   15229398
  REMARK    GeneRIF: the GC-box and CRE function cooperatively, and that the
            CRE regulates the cell-specific expression of the hCGT gene
REFERENCE   6  (bases 1 to 3733)
  AUTHORS   Sprong,H., Degroote,S., Nilsson,T., Kawakita,M., Ishida,N., van der
            Sluijs,P. and van Meer,G.
  TITLE     Association of the Golgi UDP-galactose transporter with
            UDP-galactose:ceramide galactosyltransferase allows UDP-galactose
            import in the endoplasmic reticulum
  JOURNAL   Mol Biol Cell 14 (8), 3482-3493 (2003)
   PUBMED   12925779
  REMARK    Erratum:[Mol Biol Cell. 2003 Sep;14(9):preceding table of contents]
REFERENCE   7  (bases 1 to 3733)
  AUTHORS   Iida,A., Saito,S., Sekine,A., Mishima,C., Kitamura,Y., Kondo,K.,
            Harigae,S., Osawa,S. and Nakamura,Y.
  TITLE     Catalog of 86 single-nucleotide polymorphisms (SNPs) in three
            uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and
            UGT8
  JOURNAL   J Hum Genet 47 (10), 505-510 (2002)
   PUBMED   12376738
  REMARK    GeneRIF: Single-nucleotide polymorphisms (SNPs) were found in UGT8
            gene
REFERENCE   8  (bases 1 to 3733)
  AUTHORS   Sprong,H., Kruithof,B., Leijendekker,R., Slot,J.W., van Meer,G. and
            van der Sluijs,P.
  TITLE     UDP-galactose:ceramide galactosyltransferase is a class I integral
            membrane protein of the endoplasmic reticulum
  JOURNAL   J Biol Chem 273 (40), 25880-25888 (1998)
   PUBMED   9748263
REFERENCE   9  (bases 1 to 3733)
  AUTHORS   Kapitonov,D. and Yu,R.K.
  TITLE     Cloning, characterization, and expression of human ceramide
            galactosyltransferase cDNA
  JOURNAL   Biochem Biophys Res Commun 232 (2), 449-453 (1997)
   PUBMED   9125199
REFERENCE   10 (bases 1 to 3733)
  AUTHORS   Bosio,A., Binczek,E., Le Beau,M.M., Fernald,A.A. and Stoffel,W.
  TITLE     The human gene CGT encoding the UDP-galactose ceramide galactosyl
            transferase (cerebroside synthase): cloning, characterization, and
            assignment to human chromosome 4, band q26
  JOURNAL   Genomics 34 (1), 69-75 (1996)
   PUBMED   8661025
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC127386.5 and AC122938.3.
            
            On Nov 23, 2018 this sequence version replaced NM_001128174.2.
            
            Summary: The protein encoded by this gene belongs to the
            UDP-glycosyltransferase family. It catalyzes the transfer of
            galactose to ceramide, a key enzymatic step in the biosynthesis of
            galactocerebrosides, which are abundant sphingolipids of the myelin
            membrane of the central and peripheral nervous systems.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1-5 encode the same protein.
            
            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 :: SRR1660803.141647.1,
                                           SRR1660807.248741.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310836.11/ ENSP00000311648.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-168               AC127386.5         6348-6515
            169-992             AC122938.3         13867-14690
            993-1135            AC122938.3         54983-55125
            1136-1212           AC122938.3         56668-56744
            1213-1432           AC122938.3         59073-59292
            1433-3733           AC122938.3         66913-69213
FEATURES             Location/Qualifiers
     source          1..3733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q26"
     gene            1..3733
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /note="UDP glycosyltransferase 8"
                     /db_xref="GeneID:7368"
                     /db_xref="HGNC:HGNC:12555"
                     /db_xref="MIM:601291"
     exon            1..168
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /inference="alignment:Splign:2.1.0"
     exon            169..992
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /inference="alignment:Splign:2.1.0"
     CDS             171..1796
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /EC_number="2.4.1.47"
                     /note="cerebroside synthase; 2-hydroxyacylsphingosine
                     1-beta-galactosyltransferase; uridine diphosphate
                     glycosyltransferase 8; ceramide UDP-galactosyltransferase;
                     UDP-galactose-ceramide galactosyltransferase"
                     /codon_start=1
                     /product="2-hydroxyacylsphingosine
                     1-beta-galactosyltransferase precursor"
                     /protein_id="NP_001121646.2"
                     /db_xref="CCDS:CCDS3705.1"
                     /db_xref="GeneID:7368"
                     /db_xref="HGNC:HGNC:12555"
                     /db_xref="MIM:601291"
                     /translation="MKSYTPYFILLWSAVGIAKAAKIIIVPPIMFESHMYIFKTLASA
                     LHERGHHTVFLLSEGRDIAPSNHYSLQRYPGIFNSTTSDAFLQSKMRNIFSGRLTAIE
                     LFDILDHYTKNCDLMVGNHALIQGLKKEKFDLLLVDPNDMCGFVIAHLLGVKYAVFST
                     GLWYPAEVGAPAPLAYVPEFNSLLTDRMNLLQRMKNTGVYLISRLGVSFLVLPKYERI
                     MQKYNLLPEKSMYDLVHGSSLWMLCTDVALEFPRPTLPNVVYVGGILTKPASPLPEDL
                     QRWVNGANEHGFVLVSFGAGVKYLSEDIANKLAGALGRLPQKVIWRFSGPKPKNLGNN
                     TKLIEWLPQNDLLGHSKIKAFLSHGGLNSIFETIYHGVPVVGIPLFGDHYDTMTRVQA
                     KGMGILLEWKTVTEKELYEALVKVINNPSYRQRAQKLSEIHKDQPGHPVNRTIYWIDY
                     IIRHNGAHHLRAAVHQISFCQYFLLDIAFVLLLGAALLYFLLSWVTKFIYRKIKSLWS
                     RNKHSTVNGHYHNGILNGKYKRNGHIKHEKKVK"
     exon            993..1135
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1212
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1432
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..3733
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3712..3717
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /note="hexamer: AATAAA"
     polyA_site      3733
                     /gene="UGT8"
                     /gene_synonym="CGT; UGT4"
                     /note="major polyA site"
ORIGIN      
        1 agagagccct ccttagccaa cacgctaact ccgaagcctc ccttacgccc ccgaaccacc
       61 gaaggcggcg acacctgatt cagcgcacaa acacaggtcc cttctgtccc ggatacaatt
      121 acgcggcaga cacacactca aactcgcgcg gggcagccaa gagacgagct atgaagtctt
      181 acactccata tttcattctc ctgtggagtg ctgttgggat agcgaaggct gccaaaatca
      241 tcatcgtgcc gccaattatg tttgaaagcc atatgtacat tttcaagacg ctagcctcag
      301 ccttgcacga gagaggccac catacagtgt tcctcctctc tgaaggcaga gacatcgccc
      361 catctaatca ttacagcctc cagcgctacc cagggatctt taacagtacc acctcagatg
      421 ctttcctaca gtccaagatg cggaatattt tctctgggag attgacagca atcgaactgt
      481 ttgacatact ggatcactat actaagaact gtgacctgat ggttggcaac catgccctga
      541 tccagggtct gaagaaagaa aaatttgacc tgctgctggt ggaccctaat gatatgtgtg
      601 gatttgtgat agctcatctt ttaggggtta aatatgctgt attttcaact ggcctttggt
      661 atcctgctga agtgggtgct cctgctccat tagcatacgt cccagagttt aactcactcc
      721 tcacagaccg catgaacttg ctgcaaagga tgaaaaatac cggtgtttac ctcatttcca
      781 gattaggggt cagctttctg gttcttccca aatatgaaag gataatgcag aagtacaacc
      841 tgctgccaga gaagtccatg tatgatttgg ttcatgggtc cagcctgtgg atgctgtgta
      901 ctgacgtagc actggaattc ccaagaccca ctctgcctaa tgttgtttat gtaggaggaa
      961 tcctaaccaa accagccagc ccactaccag aagatctcca aagatgggta aatggtgcta
     1021 atgaacatgg ctttgtcttg gtgtcttttg gagctggtgt caagtatctg tcagaagaca
     1081 ttgctaacaa actggcagga gctctgggga gattgcctca aaaagtgatt tggaggtttt
     1141 ctggacccaa accaaagaat ctaggaaaca acactaaact catagaatgg ttaccacaaa
     1201 atgacctgct tgggcattca aagattaaag ccttcctgag ccatggtggt ttgaacagta
     1261 tttttgaaac tatatatcat ggtgtgcctg tagtgggaat tccactcttt ggagaccatt
     1321 atgatactat gaccagagta caggcaaaag gcatggggat attgctagaa tggaagacag
     1381 ttactgaaaa agagctctat gaagcactag tgaaggttat caataatccc agctaccgtc
     1441 agagggctca gaagctttcg gaaattcaca aggatcaacc tggtcaccct gtcaatcgaa
     1501 ctatctattg gatagattat attattcgtc acaatggagc ccatcaccta cgtgccgctg
     1561 tccatcagat ctccttttgt cagtattttt tactggatat tgcctttgtg cttttgcttg
     1621 gtgctgcctt gttatacttt ctcttgtctt gggtgacaaa atttatctac agaaaaatca
     1681 aaagtctgtg gtctagaaat aagcatagca cagttaatgg acattaccac aatggaatcc
     1741 tcaatggcaa gtacaaaaga aatggccata ttaaacatga aaagaaagtg aaatgagcca
     1801 acagcccagg tgatagaaat aaattggttc actcattgaa tttttattgc tattatttag
     1861 tctaacagct actaaaagta aaacatcagt aaacaattct aacatgccct tatgagatct
     1921 actaatgaaa ttctgtggaa ttaagatggc tgtaaaaagc acaaacctaa aatgcagaaa
     1981 tgtattttat tcaaatactg atgtagagag ttttggcact gaacctttta gaagccttaa
     2041 ttatttaaat caattcagtg actgtgtcag accttagttt taaatcttga tatgtgcgtg
     2101 tcccggatca ggaatggttt catttttctt aataatgtgt gtgtgtgtat gtgtgtgtgt
     2161 gtgtgtgtgt gtttgtgtgt gtgtgtgtgt gtcctaatta agagaatttt tactggctgc
     2221 ttgttacatt tgttgagggt acaacacact caagaataaa gtaaaaggat agtcaggatc
     2281 cagatgtttc ttttctagca tttaatgtgt gtgaactcag aacactacca tgaaagaaca
     2341 cttcccccca aaactggatg cagaggaaga aaaaaaaaaa agaaatggca cagttttttg
     2401 tatttttttt tttagttatt ttttgttgtt gttgtttgta ttgtttttct tttctgatag
     2461 agtatggcca cttctggggg aaaaacatgt aattaagtaa atgtatacat tggttttcac
     2521 gttttacttt tgttttccca ctaccaataa ttttcctctg gaagaatttt atagtttttt
     2581 ctatttcatt ttaatgagta acaatatgtt aaatgcataa ttaagacaaa gcaatgaaat
     2641 tctgacttta ttcaaagtac tgaagattat tgcttctagg gcatttttaa acagcaccat
     2701 tgtattgttg aatgtttatg taactgatgg cttttctata atgtaatttt tgaatgttca
     2761 ggtgttacat ttccaaagtt taacttttaa aaaaccatct tctgatccct tttattgtct
     2821 gggccataca atctatatta cataggtgcc aacatttaat tcttttaaat ggaacatttg
     2881 cagttttcca tattggtacc tgctttttct ggagaggttt gagatcttgt taacaaatca
     2941 gactttacac tatatacaga tgtgacagat aaattgaacc acttgtttgt gaaaatgagt
     3001 tcctgtcatc ttcctcattc actcagccct caccccagca gccttttccg gtcattgtag
     3061 ctgacatgga gcagtgacag tattcatttg agaacaggga tgcaagtcac agacatcata
     3121 aaatcagggt ctccctgctg aagcattcac tagttggcaa ctatgaattt attccatgtc
     3181 attctgttta cttagcactt gcactaccct tgttggttga gtgtatgctt tatttgtttc
     3241 tagtttgaaa tcccacatct gatagctgag agtaggcaaa tacaacattt acctaatgtc
     3301 attcactaac atggaagagt tgtgaaaatt ctagagtgct gtaaatcctt ggcatacact
     3361 atgacaaaca acttcattac tctcccacca ggagctgctc tcctgcactt agaaataatg
     3421 tcacaagtag ttttctaatg tacaatgcag acaaatgtac tgctctctga atacttgaag
     3481 aaatggtatt atacatacat agaaacttat tagttatacc ttttcacaat cttattacga
     3541 tgttgccgtt aaaagggaaa aaagacacag gcaatgaatg gtgggatagt aagaggactt
     3601 agagtgtatg aatgagttga ttttactttt ttggaatttg attaagttga cagtaggcac
     3661 tgattggatg attaaacata agttaatctc cactgtgata aaaacttaaa taataaacat
     3721 gatttaaaat aga
//
