LOCUS       NM_018389               3429 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens solute carrier family 35 member C1 (SLC35C1),
            transcript variant 1, mRNA.
ACCESSION   NM_018389
VERSION     NM_018389.5
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 3429)
  AUTHORS   Skurska,E., Szulc,B., Kreczko,K. and Olczak,M.
  TITLE     Mutations in the SLC35C1 gene, contributing to significant
            differences in fucosylation patterns, may underlie the diverse
            phenotypic manifestations observed in leukocyte adhesion deficiency
            type II patients
  JOURNAL   Int J Biochem Cell Biol 173, 106602 (2024)
   PUBMED   38843991
  REMARK    GeneRIF: Mutations in the SLC35C1 gene, contributing to significant
            differences in fucosylation patterns, may underlie the diverse
            phenotypic manifestations observed in leukocyte adhesion deficiency
            type II patients.
REFERENCE   2  (bases 1 to 3429)
  AUTHORS   Lu,L., Varshney,S., Yuan,Y., Wei,H.X., Tanwar,A., Sundaram,S.,
            Nauman,M., Haltiwanger,R.S. and Stanley,P.
  TITLE     In vivo evidence for GDP-fucose transport in the absence of
            transporter SLC35C1 and putative transporter SLC35C2
  JOURNAL   J Biol Chem 299 (12), 105406 (2023)
   PUBMED   38270391
  REMARK    GeneRIF: In vivo evidence for GDP-fucose transport in the absence
            of transporter SLC35C1 and putative transporter SLC35C2.
REFERENCE   3  (bases 1 to 3429)
  AUTHORS   Hullen,A., Falkenstein,K., Weigel,C., Huidekoper,H.,
            Naumann-Bartsch,N., Spenger,J., Feichtinger,R.G., Schaefers,J.,
            Frenz,S., Kotlarz,D., Momen,T., Khoshnevisan,R., Riedhammer,K.M.,
            Santer,R., Herget,T., Rennings,A., Lefeber,D.J., Mayr,J.A.,
            Thiel,C. and Wortmann,S.B.
  TITLE     Congenital disorders of glycosylation with defective fucosylation
  JOURNAL   J Inherit Metab Dis 44 (6), 1441-1452 (2021)
   PUBMED   34389986
  REMARK    GeneRIF: Congenital disorders of glycosylation with defective
            fucosylation.
REFERENCE   4  (bases 1 to 3429)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3429)
  AUTHORS   Deng,M., Chen,Z., Tan,J. and Liu,H.
  TITLE     Down-regulation of SLC35C1 induces colon cancer through
            over-activating Wnt pathway
  JOURNAL   J Cell Mol Med 24 (5), 3079-3090 (2020)
   PUBMED   31961998
  REMARK    GeneRIF: Down-regulation of SLC35C1 induces colon cancer through
            over-activating Wnt pathway.
REFERENCE   6  (bases 1 to 3429)
  AUTHORS   Helmus,Y., Denecke,J., Yakubenia,S., Robinson,P., Luhn,K.,
            Watson,D.L., McGrogan,P.J., Vestweber,D., Marquardt,T. and
            Wild,M.K.
  TITLE     Leukocyte adhesion deficiency II patients with a dual defect of the
            GDP-fucose transporter
  JOURNAL   Blood 107 (10), 3959-3966 (2006)
   PUBMED   16455955
  REMARK    GeneRIF: Leukocyte adhesion deficiency II patients display dual
            defect in functoin ang Golgi expression of FUCT1.
REFERENCE   7  (bases 1 to 3429)
  AUTHORS   Hidalgo,A., Ma,S., Peired,A.J., Weiss,L.A., Cunningham-Rundles,C.
            and Frenette,P.S.
  TITLE     Insights into leukocyte adhesion deficiency type 2 from a novel
            mutation in the GDP-fucose transporter gene
  JOURNAL   Blood 101 (5), 1705-1712 (2003)
   PUBMED   12406889
  REMARK    GeneRIF: In the GDP-fucose transporter a new single nucleotide
            deletion produced an open-reading frame shift & polypeptide
            truncation. Overexpression of the mutant protein in fibroblasts did
            not rescue fucosylation. The deletion ablated transporter activity.
REFERENCE   8  (bases 1 to 3429)
  AUTHORS   Lubke,T., Marquardt,T., Etzioni,A., Hartmann,E., von Figura,K. and
            Korner,C.
  TITLE     Complementation cloning identifies CDG-IIc, a new type of
            congenital disorders of glycosylation, as a GDP-fucose transporter
            deficiency
  JOURNAL   Nat Genet 28 (1), 73-76 (2001)
   PUBMED   11326280
REFERENCE   9  (bases 1 to 3429)
  AUTHORS   Luhn,K., Wild,M.K., Eckhardt,M., Gerardy-Schahn,R. and Vestweber,D.
  TITLE     The gene defective in leukocyte adhesion deficiency II encodes a
            putative GDP-fucose transporter
  JOURNAL   Nat Genet 28 (1), 69-72 (2001)
   PUBMED   11326279
REFERENCE   10 (bases 1 to 3429)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK074929.1, AK315473.1 and
            BC001427.2.
            
            On Aug 31, 2019 this sequence version replaced NM_018389.4.
            
            Summary: This gene encodes a GDP-fucose transporter that is found
            in the Golgi apparatus. Mutations in this gene result in congenital
            disorder of glycosylation type IIc. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Feb 2009].
            
            Transcript Variant: This variant (1) represents the longest
            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 :: BC001427.2, AK074929.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314134.4/ ENSP00000313318.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-267               AK074929.1         61-327
            268-799             AK315473.1         29-560
            800-3429            BC001427.2         164-2793
FEATURES             Location/Qualifiers
     source          1..3429
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..3429
                     /gene="SLC35C1"
                     /gene_synonym="CDG2C; FUCT1"
                     /note="solute carrier family 35 member C1"
                     /db_xref="GeneID:55343"
                     /db_xref="HGNC:HGNC:20197"
                     /db_xref="MIM:605881"
     exon            1..1188
                     /gene="SLC35C1"
                     /gene_synonym="CDG2C; FUCT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             654..1748
                     /gene="SLC35C1"
                     /gene_synonym="CDG2C; FUCT1"
                     /note="isoform a is encoded by transcript variant 1;
                     GDP-fucose transporter 1; solute carrier family 35
                     (GDP-fucose transporter), member C1"
                     /codon_start=1
                     /product="GDP-fucose transporter 1 isoform a"
                     /protein_id="NP_060859.4"
                     /db_xref="CCDS:CCDS7914.1"
                     /db_xref="GeneID:55343"
                     /db_xref="HGNC:HGNC:20197"
                     /db_xref="MIM:605881"
                     /translation="MNRAPLKRSRILHMALTGASDPSAEAEANGEKPFLLRALQIALV
                     VSLYWVTSISMVFLNKYLLDSPSLRLDTPIFVTFYQCLVTTLLCKGLSALAACCPGAV
                     DFPSLRLDLRVARSVLPLSVVFIGMITFNNLCLKYVGVAFYNVGRSLTTVFNVLLSYL
                     LLKQTTSFYALLTCGIIIGGFWLGVDQEGAEGTLSWLGTVFGVLASLCVSLNAIYTTK
                     VLPAVDGSIWRLTFYNNVNACILFLPLLLLLGELQALRDFAQLGSAHFWGMMTLGGLF
                     GFAIGYVTGLQIKFTSPLTHNVSGTAKACAQTVLAVLYYEETKSFLWWTSNMMVLGGS
                     SAYTWVRGWEMKKTPEEPSPKDSEKSAMGV"
     exon            1189..3429
                     /gene="SLC35C1"
                     /gene_synonym="CDG2C; FUCT1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1984
                     /gene="SLC35C1"
                     /gene_synonym="CDG2C; FUCT1"
     regulatory      3412..3417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC35C1"
                     /gene_synonym="CDG2C; FUCT1"
                     /note="hexamer: AATAAA"
     polyA_site      3429
                     /gene="SLC35C1"
                     /gene_synonym="CDG2C; FUCT1"
                     /note="major polyA site"
ORIGIN      
        1 ctcggatgtc cggaggctcc tgggctgagc cggcgacaga gcccgggaag gcagcgagac
       61 gtgggcgccg gcccagcccc ctcccgcgtc cttcagcccc aagccccgag cccctctgac
      121 ccttccgcag ccctccctcc agccgcgccc ggcctccggc agctccctgt acgcctccct
      181 ccccctgccc gcccctccct cccacagccg cccatgacgc cctctcggca cctcttccca
      241 ctctgccacg cgtccttttc ctgcaccttc gccccgcgta cctactcctg ccccgccctg
      301 ccattcctct cccctccctt ctctctgcga cccctccctg ttaggcccca gcctcttctc
      361 ccctcacagg tcttctctgt cctggcctca ccgccttatc ctattcctct cccttgccct
      421 gtgtcttgtc tcagagcccc ctcggggtgg gagtaggttg tggagcagca caactgggct
      481 caccccaaag cagaacttct caatccatga ggacaatggg gaggccttta ggccagccca
      541 catgtgacaa tggagggctg cggcttcctt gcggagagca caagtgagct cactgccctg
      601 gactccaggg aatcagagtt ctggccgcgg ggtgacccag ctcctctgct accatgaata
      661 gggcccctct gaagcggtcc aggatcctgc acatggcgct gaccggggcc tcagacccct
      721 ctgcagaggc agaggccaac ggggagaagc cctttctgct gcgggcattg cagatcgcgc
      781 tggtggtctc cctctactgg gtcacctcca tctccatggt gttccttaat aagtacctgc
      841 tggacagccc ctccctgcgg ctggacaccc ccatcttcgt caccttctac cagtgcctgg
      901 tgaccacgct gctgtgcaaa ggcctcagcg ctctggccgc ctgctgccct ggtgccgtgg
      961 acttccccag cttgcgcctg gacctcaggg tggcccgcag cgtcctgccc ctgtcggtgg
     1021 tcttcatcgg catgatcacc ttcaataacc tctgcctcaa gtacgtcggt gtggccttct
     1081 acaatgtggg ccgctcactc accaccgtct tcaacgtgct gctctcctac ctgctgctca
     1141 agcagaccac ctccttctat gccctgctca cctgcggtat catcatcggg ggcttctggc
     1201 ttggtgtgga ccaggagggg gcagaaggca ccctgtcgtg gctgggcacc gtcttcggcg
     1261 tgctggctag cctctgtgtc tcgctcaacg ccatctacac cacgaaggtg ctcccggcgg
     1321 tggacggcag catctggcgc ctgactttct acaacaacgt caacgcctgc atcctcttcc
     1381 tgcccctgct cctgctgctc ggggagcttc aggccctgcg tgactttgcc cagctgggca
     1441 gtgcccactt ctgggggatg atgacgctgg gcggcctgtt tggctttgcc atcggctacg
     1501 tgacaggact gcagatcaag ttcaccagtc cgctgaccca caatgtgtcg ggcacggcca
     1561 aggcctgtgc ccagacagtg ctggccgtgc tctactacga ggagaccaag agcttcctct
     1621 ggtggacgag caacatgatg gtgctgggcg gctcctccgc ctacacctgg gtcaggggct
     1681 gggagatgaa gaagactccg gaggagccca gccccaaaga cagcgagaag agcgccatgg
     1741 gggtgtgagc accacaggca ccctggatgg cccggccccg gggcccgtac acaggcgggg
     1801 ccagcacagt agtgaaggcg gtctcctgga ccccagaagc gtgctgtggt gtggactggg
     1861 tgctacttat agacccaatc agaatacggt ggttgagaag gaaccagtgt ttacaagtaa
     1921 tatcagaaag ttgaaggaac cagtgtttac aagtaatacc agaaagttgc caaacccttc
     1981 tctatcctct cgtatttctg agtttttgtc cttcccgagg gagcacccta gtgagagttg
     2041 aaccccttcc ttctgcctcc agggcctgtc tgcctccaca tcactctgag gacagggaca
     2101 ggcaacaacc ttgaagggac agcaatggca aagccacaaa ggcttcactg tactcagggg
     2161 agatggccct accacagcca cctggagagg gttgggaagc cttccgtctg cggtgggcag
     2221 gcagcctcac cctgggccca cagaccggcc ttcctttgga ggaaagtgtg gcctggactg
     2281 agggaggaaa tgagcgagtt ccctctgaca ccagcagatc cccaggggct gctgggcagt
     2341 ggcctgggaa tggggtggat tgtgagaaag tgctcaccat ctatacaccc tgtatgtcca
     2401 gcttttgaac acaagggaac catgcttctc ttagaggtta agcagggtca ttaacatcct
     2461 cccccagtcc ctaacatcac attgtcctgc gtggctcctc tggccctgag tggcacctgt
     2521 ccctctggtc tcccagcacc tggcccaggt aacagccttc tgaaagcaga gccaaggagc
     2581 tgcttctctc ttctcccagt tctacctccc cagaagcctt cctccccagg tggggctgat
     2641 ggagcaaggg tccagactag gagccttcca ccccagctgt gtctggcgcc cctagatctc
     2701 tgcaagggag gtgttacagc tggttctgag ccgcttgcct tgtgatggta agacaccaac
     2761 ctttacattc ttccctgagg ttgtggctga cagagcctgc ttggccccac tgttagtcca
     2821 gcgagctcct atatcaaaat gccgtaggcc gggtggctta caaacaacag aaacgtattg
     2881 ctcacagtcc tggggggctg ggacgcccaa gatcaagagg ccagcagatt cggactccgc
     2941 tgagggctgt ttcccgatcc atagatggtg ccttctcgct gtatcctcaa tggtagaagc
     3001 acaaacaagc aagctccttc ctgcctcttt tataaggact ccaaccctgt tcatgagggt
     3061 tccgccccca tgacccaatc agctccaaag gccccacctc ctaatactgt caccttgggg
     3121 gtgagaattc caatgtgaat ttgcaggggg agtgggggac acacacaaat ttcggggcca
     3181 taccaccctt caccacaccc tcctgcgctc agggtggctt gcagtccctg gcccttctgg
     3241 tgggcatttg gtatgtcctt tctcttgggg tgatttctga tgtttttact ctatatagtg
     3301 aaaagctagg gagagcgggt cttctccccc ctccctctcc agtcccctca caatcccaga
     3361 tgggttctaa tgcagctgct ggggcctgat gccctgagtt gtttgtgatt caataaagaa
     3421 tccataaga
//
