LOCUS       NM_005660               1456 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 35 member A2 (SLC35A2),
            transcript variant 1, mRNA.
ACCESSION   NM_005660
VERSION     NM_005660.3
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 1456)
  AUTHORS   Yang,X., Tao,Y., Xu,Y., Cai,W. and Shao,Q.
  TITLE     SLC35A2 expression drives breast cancer progression via ERK pathway
            activation
  JOURNAL   FEBS J 291 (7), 1483-1505 (2024)
   PUBMED   38143314
  REMARK    GeneRIF: SLC35A2 expression drives breast cancer progression via
            ERK pathway activation.
REFERENCE   2  (bases 1 to 1456)
  AUTHORS   Elziny,S., Crino,P.B. and Winawer,M.
  TITLE     SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE
  JOURNAL   Neurobiol Dis 187, 106299 (2023)
   PUBMED   37739137
  REMARK    GeneRIF: SLC35A2 somatic variants in drug resistant epilepsy: FCD
            and MOGHE.
            Review article
REFERENCE   3  (bases 1 to 1456)
  AUTHORS   Wiertelak,W., Chabowska,K., Szulc,B., Zadorozhna,Y., Olczak,M. and
            Maszczak-Seneczko,D.
  TITLE     SLC35A2 deficiency reduces protein levels of core 1
            beta-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc
            and affects their subcellular localization
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1870 (5), 119462 (2023)
   PUBMED   36933771
  REMARK    GeneRIF: SLC35A2 deficiency reduces protein levels of core 1
            beta-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc
            and affects their subcellular localization.
REFERENCE   4  (bases 1 to 1456)
  AUTHORS   Cheng,H., Wang,S., Gao,D., Yu,K., Chen,H., Huang,Y., Li,M.,
            Zhang,J. and Guo,K.
  TITLE     Nucleotide sugar transporter SLC35A2 is involved in promoting
            hepatocellular carcinoma metastasis by regulating cellular
            glycosylation
  JOURNAL   Cell Oncol (Dordr) 46 (2), 283-297 (2023)
   PUBMED   36454514
  REMARK    GeneRIF: Nucleotide sugar transporter SLC35A2 is involved in
            promoting hepatocellular carcinoma metastasis by regulating
            cellular glycosylation.
REFERENCE   5  (bases 1 to 1456)
  AUTHORS   Barba,C., Blumcke,I., Winawer,M.R., Hartlieb,T., Kang,H.C.,
            Grisotto,L., Chipaux,M., Bien,C.G., Hermanovska,B., Porter,B.E.,
            Lidov,H.G.W., Cetica,V., Woermann,F.G., Lopez-Rivera,J.A.,
            Canoll,P.D., Mader,I., D'Incerti,L., Baldassari,S., Yang,E.,
            Gaballa,A., Vogel,H., Straka,B., Macconi,L., Polster,T.,
            Grant,G.A., Krskova,L., Shin,H.J., Ko,A., Crino,P.B., Krsek,P.,
            Lee,J.H., Lal,D., Baulac,S., Poduri,A. and Guerrini,R.
  CONSRTM   SLC35A2 Study Group
  TITLE     Clinical Features, Neuropathology, and Surgical Outcome in Patients
            With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2
            Gene
  JOURNAL   Neurology 100 (5), e528-e542 (2023)
   PUBMED   36307217
  REMARK    GeneRIF: Clinical Features, Neuropathology, and Surgical Outcome in
            Patients With Refractory Epilepsy and Brain Somatic Variants in the
            SLC35A2 Gene.
REFERENCE   6  (bases 1 to 1456)
  AUTHORS   Ishida,N., Miura,N., Yoshioka,S. and Kawakita,M.
  TITLE     Molecular cloning and characterization of a novel isoform of the
            human UDP-galactose transporter, and of related complementary DNAs
            belonging to the nucleotide-sugar transporter gene family
  JOURNAL   J Biochem 120 (6), 1074-1078 (1996)
   PUBMED   9010752
REFERENCE   7  (bases 1 to 1456)
  AUTHORS   Miura,N., Ishida,N., Hoshino,M., Yamauchi,M., Hara,T., Ayusawa,D.
            and Kawakita,M.
  TITLE     Human UDP-galactose translocator: molecular cloning of a
            complementary DNA that complements the genetic defect of a mutant
            cell line deficient in UDP-galactose translocator
  JOURNAL   J Biochem 120 (2), 236-241 (1996)
   PUBMED   8889805
REFERENCE   8  (bases 1 to 1456)
  AUTHORS   Hara,T., Yamauchi,M., Takahashi,E., Hoshino,M., Aoki,K., Ayusawa,D.
            and Kawakita,M.
  TITLE     The UDP-galactose translocator gene is mapped to band
            Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus
  JOURNAL   Somat Cell Mol Genet 19 (6), 571-575 (1993)
   PUBMED   8128316
REFERENCE   9  (bases 1 to 1456)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
REFERENCE   10 (bases 1 to 1456)
  AUTHORS   Di Gesu,G.
  TITLE     [Hypocalcemia after thyroidectomy. Pathogenetic and clinical
            aspects]
  JOURNAL   Minerva Med 78 (6), 393-398 (1987)
   PUBMED   3561849
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D84454.1 and D88146.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005660.2.
            
            Summary: This gene encodes a member of the nucleotide-sugar
            transporter family. The encoded protein is a multi-pass membrane
            protein. It transports UDP-galactose from the cytosol into Golgi
            vesicles, where it serves as a glycosyl donor for the generation of
            glycans. Mutations in this gene cause congenital disorder of
            glycosylation type IIm (CDG2M). Multiple alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene. [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (1, also known as UGT2) encodes
            isoform a.
            
            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 :: SRR1163655.66269.1,
                                           SRR3476690.277081.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000247138.11/ ENSP00000247138.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 D84454.1           314-319
            7-1456              D88146.1           1-1450
FEATURES             Location/Qualifiers
     source          1..1456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1456
                     /gene="SLC35A2"
                     /gene_synonym="CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT;
                     UGT1; UGT2; UGTL"
                     /note="solute carrier family 35 member A2"
                     /db_xref="GeneID:7355"
                     /db_xref="HGNC:HGNC:11022"
                     /db_xref="MIM:314375"
     exon            1..101
                     /gene="SLC35A2"
                     /gene_synonym="CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT;
                     UGT1; UGT2; UGTL"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..1201
                     /gene="SLC35A2"
                     /gene_synonym="CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT;
                     UGT1; UGT2; UGTL"
                     /note="isoform a is encoded by transcript variant 1;
                     solute carrier family 35 (UDP-galactose transporter),
                     member 2; UDP-galactose translocator; solute carrier
                     family 35 (UDP-galactose transporter), member A2"
                     /codon_start=1
                     /product="UDP-galactose translocator isoform a"
                     /protein_id="NP_005651.1"
                     /db_xref="CCDS:CCDS14311.1"
                     /db_xref="GeneID:7355"
                     /db_xref="HGNC:HGNC:11022"
                     /db_xref="MIM:314375"
                     /translation="MAAVGAGGSTAAPGPGAVSAGALEPGTASAAHRRLKYISLAVLV
                     VQNASLILSIRYARTLPGDRFFATTAVVMAEVLKGLTCLLLLFAQKRGNVKHLVLFLH
                     EAVLVQYVDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKILTTALFSVLML
                     NRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGV
                     YFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVL
                     NQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGA
                     VYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKLLTK
                     VKGS"
     exon            102..284
                     /gene="SLC35A2"
                     /gene_synonym="CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT;
                     UGT1; UGT2; UGTL"
                     /inference="alignment:Splign:2.1.0"
     exon            285..436
                     /gene="SLC35A2"
                     /gene_synonym="CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT;
                     UGT1; UGT2; UGTL"
                     /inference="alignment:Splign:2.1.0"
     exon            437..1173
                     /gene="SLC35A2"
                     /gene_synonym="CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT;
                     UGT1; UGT2; UGTL"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1456
                     /gene="SLC35A2"
                     /gene_synonym="CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT;
                     UGT1; UGT2; UGTL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1433..1438
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC35A2"
                     /gene_synonym="CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT;
                     UGT1; UGT2; UGTL"
                     /note="hexamer: AATAAA"
     polyA_site      1456
                     /gene="SLC35A2"
                     /gene_synonym="CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT;
                     UGT1; UGT2; UGTL"
                     /note="major polyA site"
ORIGIN      
        1 agatgccaac atggcagcgg ttggggctgg tggttccacc gcggcgcccg ggccaggggc
       61 ggtttccgcg ggtgcattgg agccggggac cgccagtgcg gctcacaggc gcctgaagta
      121 catatcccta gctgtgctgg tggtccagaa tgcctccctc atcctcagca tccgctacgc
      181 ccgcacgttg ccaggggacc gcttctttgc caccactgct gtggtcatgg cggaagtgct
      241 caaaggtctc acctgcctgc tgctgctctt cgcacagaag aggggtaacg tgaagcacct
      301 ggttctcttc ctccatgagg ctgtcctggt gcagtatgtg gacacgctca agctcgcagt
      361 gccctctctc atctacacct tgcagaataa cctccagtat gttgccatct ctaacctacc
      421 agctgccact ttccaggtga cataccagct gaagatcctg accacagcgc tgttctccgt
      481 gctcatgctg aatcgcagcc tttcccggct gcagtgggcc tccctgctgc tcctcttcac
      541 tggcgtcgcc attgtccagg cacagcaagc cggtggggga ggcccacggc cactggatca
      601 gaaccctggg gcaggcctgg cagccgtcgt ggcctcctgt ctctcctccg gcttcgcagg
      661 tgtctacttt gagaagatcc tcaaaggcag ctcaggctcc gtgtggctgc gcaacctgca
      721 actgggcctc ttcggcacag cactgggcct ggtggggctc tggtgggctg agggtaccgc
      781 cgtggccacc cgtggtttct tttttgggta cacacctgct gtctggggcg tggtgctcaa
      841 ccaggccttc ggcgggctac tggtggctgt ggttgtcaag tacgctgaca atatcctcaa
      901 gggctttgcc acctccctgt ccattgtgct gtccactgtt gcctccattc gcctctttgg
      961 cttccacgtg gacccattat ttgcccttgg cgctggactc gtcattggtg ctgtctacct
     1021 ctacagcctt ccccgaggtg cagccaaagc catagcctct gcctctgcct ccgcctccgg
     1081 gccctgcgtt caccagcagc ctcccgggca gccaccacca ccgcagctgt cttcccaccg
     1141 tggagacctc atcacggagc cctttctgcc aaagttgctc accaaggtga agggttccta
     1201 gccgctggga ttgaagacat tggcctggcc tcgttctctc ttcttgccct tggcccagct
     1261 gggaccaaac tctgatcagt attaggggta gagtgaggta gacactggac tccctgtccc
     1321 caccacccct gccccaccca gggccaacat gactaagctc tctcatgacc cacctcagct
     1381 cagcccccca gcccctgcca gctccacact atctcttagc tgagtttttg caaataaaat
     1441 gtgttgtgta tcttgc
//
