LOCUS       NM_006416               1854 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens solute carrier family 35 member A1 (SLC35A1),
            transcript variant 1, mRNA.
ACCESSION   NM_006416
VERSION     NM_006416.5
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 1854)
  AUTHORS   Li,D. and Mukhopadhyay,S.
  TITLE     A three-pocket model for substrate coordination and selectivity by
            the nucleotide sugar transporters SLC35A1 and SLC35A2
  JOURNAL   J Biol Chem 297 (3), 101069 (2021)
   PUBMED   34384782
  REMARK    GeneRIF: A three-pocket model for substrate coordination and
            selectivity by the nucleotide sugar transporters SLC35A1 and
            SLC35A2.
REFERENCE   2  (bases 1 to 1854)
  AUTHORS   Banning,A., Zakrzewicz,A., Chen,X., Gray,S.J. and Tikkanen,R.
  TITLE     Knockout of the CMP-Sialic Acid Transporter SLC35A1 in Human Cell
            Lines Increases Transduction Efficiency of Adeno-Associated Virus
            9: Implications for Gene Therapy Potency Assays
  JOURNAL   Cells 10 (5), 1259 (2021)
   PUBMED   34069698
  REMARK    GeneRIF: Knockout of the CMP-Sialic Acid Transporter SLC35A1 in
            Human Cell Lines Increases Transduction Efficiency of
            Adeno-Associated Virus 9: Implications for Gene Therapy Potency
            Assays.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1854)
  AUTHORS   Ma,X., Li,Y., Kondo,Y., Shi,H., Han,J., Jiang,Y., Bai,X.,
            Archer-Hartmann,S.A., Azadi,P., Ruan,C., Fu,J. and Xia,L.
  TITLE     Slc35a1 deficiency causes thrombocytopenia due to impaired
            megakaryocytopoiesis and excessive platelet clearance in the liver
  JOURNAL   Haematologica 106 (3), 759-769 (2021)
   PUBMED   32303557
  REMARK    GeneRIF: Slc35a1 deficiency causes thrombocytopenia due to impaired
            megakaryocytopoiesis and excessive platelet clearance in the liver.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1854)
  AUTHORS   Ury,B., Potelle,S., Caligiore,F., Whorton,M.R. and Bommer,G.T.
  TITLE     The promiscuous binding pocket of SLC35A1 ensures redundant
            transport of CDP-ribitol to the Golgi
  JOURNAL   J Biol Chem 296, 100789 (2021)
   PUBMED   34015330
  REMARK    GeneRIF: The promiscuous binding pocket of SLC35A1 ensures
            redundant transport of CDP-ribitol to the Golgi.
REFERENCE   5  (bases 1 to 1854)
  AUTHORS   Szulc,B., Zadorozhna,Y., Olczak,M., Wiertelak,W. and
            Maszczak-Seneczko,D.
  TITLE     Novel Insights into Selected Disease-Causing Mutations within the
            SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter
  JOURNAL   Int J Mol Sci 22 (1), 304 (2020)
   PUBMED   33396746
  REMARK    GeneRIF: Novel Insights into Selected Disease-Causing Mutations
            within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1854)
  AUTHORS   Eckhardt,M., Muhlenhoff,M., Bethe,A. and Gerardy-Schahn,R.
  TITLE     Expression cloning of the Golgi CMP-sialic acid transporter
  JOURNAL   Proc Natl Acad Sci U S A 93 (15), 7572-7576 (1996)
   PUBMED   8755516
REFERENCE   7  (bases 1 to 1854)
  AUTHORS   Lennon,G., Auffray,C., Polymeropoulos,M. and Soares,M.B.
  TITLE     The I.M.A.G.E. Consortium: an integrated molecular analysis of
            genomes and their expression
  JOURNAL   Genomics 33 (1), 151-152 (1996)
   PUBMED   8617505
REFERENCE   8  (bases 1 to 1854)
  AUTHORS   Harvey,B.E. and Thomas,P.
  TITLE     Inhibition of CMP-sialic acid transport in human liver and
            colorectal cancer cell lines by a sialic acid nucleoside conjugate
            (KI-8110)
  JOURNAL   Biochem Biophys Res Commun 190 (2), 571-575 (1993)
   PUBMED   8427599
REFERENCE   9  (bases 1 to 1854)
  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 1854)
  AUTHORS   Wahlberg,J.E.
  TITLE     Sensitization and testing of guinea pigs with nickel sulfate
  JOURNAL   Dermatologica 152 (6), 321-330 (1976)
   PUBMED   964426
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB095595.1, BG699364.1,
            BC017807.1 and CB242593.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006416.4.
            
            Summary: The protein encoded by this gene is found in the membrane
            of the Golgi apparatus, where it transports nucleotide sugars into
            the Golgi. One such nucleotide sugar is CMP-sialic acid, which is
            imported into the Golgi by the encoded protein and subsequently
            glycosylated. Defects in this gene are a cause of congenital
            disorder of glycosylation type 2F (CDG2F). Two transcript variants
            encoding different isoforms have been found for this gene.[provided
            by RefSeq, Dec 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR5189664.59231.1, BC017807.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369552.9/ ENSP00000358565.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DB095595.1         50-61
            13-46               BG699364.1         67-100
            47-1345             BC017807.1         44-1342
            1346-1854           CB242593.1         16-524              c
FEATURES             Location/Qualifiers
     source          1..1854
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     gene            1..1854
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /note="solute carrier family 35 member A1"
                     /db_xref="GeneID:10559"
                     /db_xref="HGNC:HGNC:11021"
                     /db_xref="MIM:605634"
     exon            1..46
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1044
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /note="isoform a is encoded by transcript variant 1;
                     solute carrier family 35 (UDP-galactose transporter),
                     member 1; solute carrier family 35 (CMP-sialic acid
                     transporter), member 1; mutated CMP-sialic acid
                     transporter A1; CMP-SA-Tr; CMP-Sia-Tr; solute carrier
                     family 35 (CMP-sialic acid transporter), member A1"
                     /codon_start=1
                     /product="CMP-sialic acid transporter isoform a"
                     /protein_id="NP_006407.1"
                     /db_xref="CCDS:CCDS5010.1"
                     /db_xref="GeneID:10559"
                     /db_xref="HGNC:HGNC:11021"
                     /db_xref="MIM:605634"
                     /translation="MAAPRDNVTLLFKLYCLAVMTLMAAVYTIALRYTRTSDKELYFS
                     TTAVCITEVIKLLLSVGILAKETGSLGRFKASLRENVLGSPKELLKLSVPSLVYAVQN
                     NMAFLALSNLDAAVYQVTYQLKIPCTALCTVLMLNRTLSKLQWVSVFMLCAGVTLVQW
                     KPAQATKVVVEQNPLLGFGAIAIAVLCSGFAGVYFEKVLKSSDTSLWVRNIQMYLSGI
                     IVTLAGVYLSDGAEIKEKGFFYGYTYYVWFVIFLASVGGLYTSVVVKYTDNIMKGFSA
                     AAAIVLSTIASVMLFGLQITLTFALGTLLVCVSIYLYGLPRQDTTSIQQGETASKERV
                     IGV"
     exon            47..224
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /inference="alignment:Splign:2.1.0"
     exon            225..384
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /inference="alignment:Splign:2.1.0"
     exon            385..537
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /inference="alignment:Splign:2.1.0"
     exon            538..604
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /inference="alignment:Splign:2.1.0"
     exon            605..781
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /inference="alignment:Splign:2.1.0"
     exon            782..916
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1854
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1752..1757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /note="hexamer: AATAAA"
     polyA_site      1782
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /note="major polyA site"
     regulatory      1833..1838
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /note="hexamer: AATAAA"
     polyA_site      1854
                     /gene="SLC35A1"
                     /gene_synonym="CDG2F; CMPST; CST; hCST"
                     /note="major polyA site"
ORIGIN      
        1 gtcagttccg cggggggctg tcggggaacc atggctgccc cgagagacaa tgtcacttta
       61 ttattcaagt tatactgctt ggcagtgatg accctgatgg ctgcagtcta taccatagct
      121 ttaagataca caaggacatc agacaaagaa ctctactttt caaccacagc cgtgtgtatc
      181 acagaagtta taaagttatt gctaagtgtg ggaattttag ctaaagaaac tggtagtctg
      241 ggtagattca aagcatcttt aagagaaaat gtcttgggga gccccaagga actgttgaag
      301 ttaagtgtgc catcgttagt gtatgctgtt cagaacaaca tggctttcct agctcttagc
      361 aatctggatg cagcagtgta ccaggtgacc taccagttga agattccgtg tactgcttta
      421 tgcactgttt taatgttaaa ccggacactc agcaaattac agtgggtttc agtttttatg
      481 ctgtgtgctg gagttacgct tgtacagtgg aaaccagccc aagctacaaa agtggtggtg
      541 gaacaaaatc cattattagg gtttggcgct atagctattg ctgtattgtg ctcaggattt
      601 gcaggagtat attttgaaaa agttttaaag agttcagata cttctctttg ggtgagaaac
      661 attcaaatgt atctatcagg gattattgtg acattagctg gcgtctactt gtcagatgga
      721 gctgaaatta aagaaaaagg atttttctat ggttacacat attatgtctg gtttgtcatc
      781 tttcttgcaa gtgttggtgg cctctacact tctgttgtgg ttaagtacac agacaacatc
      841 atgaaaggct tttctgcagc agcggccatt gtcctttcca ccattgcttc agtaatgctg
      901 tttggattac agataacact cacctttgcc ctgggtactc ttcttgtatg tgtttccata
      961 tatctctatg gattacccag acaagacact acatccatcc aacaaggaga aacagcttca
     1021 aaggagagag ttattggtgt gtgattttag cctcacgtga gactcctttt aagactaaac
     1081 catttgcatt aaactagagc cttaagtcaa tctcagaagg tagcataaac aaataaaaat
     1141 taactgtatg gcatgatcag tgcggttatg tggaaacaac aacaaacaaa cgaagctatc
     1201 tgagtgaact gctaatacag aaacttaatg tagacctgtt tggggtctac tattgtttta
     1261 gaatgaagga attgtattat tgtgtgtata tataatttgt aaataaaaag tatggagatg
     1321 atacggtgtt aaaaaaaatc atggtaaggc tacaatactc aagtaacaag gtttgggaca
     1381 atgtctaagg gttaaagtgc caaagccatt tctgtactaa ctgttctctt gttccggtac
     1441 cggggagaag gatgacccct ccttattctc caattcatgt acagtatttt gtcctagcag
     1501 cataaagacc tagctctttt cttacaagag gcagaaacaa gacaggctag ttcataaaca
     1561 aactgtgtaa cttctcaaaa tgaatctatt tcataactcg gacaatttct gggtggtgac
     1621 tgagtacccc tttagtgagt acccctttag tgctatattt gtgccattca ttatctggtt
     1681 catatttctt ttctgttaga tgatacacat ttcttcaaaa aaatttctaa tgtcactttt
     1741 gtactttttt aaataaagta tgtttaactg ttgggctctc aataatttgt gaaatttcag
     1801 tgttttctat aatgttaatg gggaaattca gcaataaact ttatttgtaa gaaa
//
