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2024-03-28 20:20:46, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001040701            3009 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase)
            (FUT6), transcript variant 2, mRNA.
ACCESSION   NM_001040701
VERSION     NM_001040701.1  GI:103472032
KEYWORDS    RefSeq.
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 3009)
  AUTHORS   He,M., Wu,C., Xu,J., Guo,H., Yang,H., Zhang,X., Sun,J., Yu,D.,
            Zhou,L., Peng,T., He,Y., Gao,Y., Yuan,J., Deng,Q., Dai,X., Tan,A.,
            Feng,Y., Zhang,H., Min,X., Yang,X., Zhu,J., Zhai,K., Chang,J.,
            Qin,X., Tan,W., Hu,Y., Lang,M., Tao,S., Li,Y., Li,Y., Feng,J.,
            Li,D., Kim,S.T., Zhang,S., Zhang,H., Zheng,S.L., Gui,L., Wang,Y.,
            Wei,S., Wang,F., Fang,W., Liang,Y., Zhai,Y., Chen,W., Miao,X.,
            Zhou,G., Hu,F.B., Lin,D., Mo,Z. and Wu,T.
  TITLE     A genome wide association study of genetic loci that influence
            tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and
            alpha fetoprotein and their associations with cancer risk
  JOURNAL   Gut (2013) In press
   PUBMED   23300138
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 3009)
  AUTHORS   Lin,X., Lu,D., Gao,Y., Tao,S., Yang,X., Feng,J., Tan,A., Zhang,H.,
            Hu,Y., Qin,X., Kim,S.T., Peng,T., Li,L., Mo,L., Zhang,S.,
            Trent,J.M., Mo,Z., Zheng,S.L., Xu,J. and Sun,J.
  TITLE     Genome-wide association study identifies novel loci associated with
            serum level of vitamin B12 in Chinese men
  JOURNAL   Hum. Mol. Genet. 21 (11), 2610-2617 (2012)
   PUBMED   22367966
REFERENCE   3  (bases 1 to 3009)
  AUTHORS   Guo,Q., Guo,B., Wang,Y., Wu,J., Jiang,W., Zhao,S., Qiao,S. and
            Wu,Y.
  TITLE     Functional analysis of alpha1,3/4-fucosyltransferase VI in human
            hepatocellular carcinoma cells
  JOURNAL   Biochem. Biophys. Res. Commun. 417 (1), 311-317 (2012)
   PUBMED   22155250
  REMARK    GeneRIF: these results suggest that FUT6 plays an important role in
            hepatocellular carcinoma growth by regulating the PI3K/Akt
            signaling pathway.
REFERENCE   4  (bases 1 to 3009)
  AUTHORS   Trinchera,M., Malagolini,N., Chiricolo,M., Santini,D., Minni,F.,
            Caretti,A. and Dall'olio,F.
  TITLE     The biosynthesis of the selectin-ligand sialyl Lewis x in
            colorectal cancer tissues is regulated by fucosyltransferase VI and
            can be inhibited by an RNA interference-based approach
  JOURNAL   Int. J. Biochem. Cell Biol. 43 (1), 130-139 (2011)
   PUBMED   20965272
  REMARK    GeneRIF: The biosynthesis of the selectin-ligand sialyl Lewis x in
            colorectal cancer tissues is regulated by fucosyltransferase VI and
            can be inhibited by an RNA interference-based approach.
            Erratum:[Int J Biochem Cell Biol. 2011 Nov;43(11):1649-50]
REFERENCE   5  (bases 1 to 3009)
  AUTHORS   Lauc,G., Essafi,A., Huffman,J.E., Hayward,C., Knezevic,A.,
            Kattla,J.J., Polasek,O., Gornik,O., Vitart,V., Abrahams,J.L.,
            Pucic,M., Novokmet,M., Redzic,I., Campbell,S., Wild,S.H.,
            Borovecki,F., Wang,W., Kolcic,I., Zgaga,L., Gyllensten,U.,
            Wilson,J.F., Wright,A.F., Hastie,N.D., Campbell,H., Rudd,P.M. and
            Rudan,I.
  TITLE     Genomics meets glycomics-the first GWAS study of human N-Glycome
            identifies HNF1alpha as a master regulator of plasma protein
            fucosylation
  JOURNAL   PLoS Genet. 6 (12), E1001256 (2010)
   PUBMED   21203500
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3009)
  AUTHORS   Cameron,H.S., Szczepaniak,D. and Weston,B.W.
  TITLE     Expression of human chromosome 19p alpha(1,3)-fucosyltransferase
            genes in normal tissues. Alternative splicing, polyadenylation, and
            isoforms
  JOURNAL   J. Biol. Chem. 270 (34), 20112-20122 (1995)
   PUBMED   7650030
REFERENCE   7  (bases 1 to 3009)
  AUTHORS   McCurley,R.S., Recinos,A. III, Olsen,A.S., Gingrich,J.C.,
            Szczepaniak,D., Cameron,H.S., Krauss,R. and Weston,B.W.
  TITLE     Physical maps of human alpha (1,3)fucosyltransferase genes
            FUT3-FUT6 on chromosomes 19p13.3 and 11q21
  JOURNAL   Genomics 26 (1), 142-146 (1995)
   PUBMED   7782074
REFERENCE   8  (bases 1 to 3009)
  AUTHORS   Reguigne-Arnould,I., Couillin,P., Mollicone,R., Faure,S.,
            Fletcher,A., Kelly,R.J., Lowe,J.B. and Oriol,R.
  TITLE     Relative positions of two clusters of human
            alpha-L-fucosyltransferases in 19q (FUT1-FUT2) and 19p
            (FUT6-FUT3-FUT5) within the microsatellite genetic map of
            chromosome 19
  JOURNAL   Cytogenet. Cell Genet. 71 (2), 158-162 (1995)
   PUBMED   7656588
REFERENCE   9  (bases 1 to 3009)
  AUTHORS   Weston,B.W., Smith,P.L., Kelly,R.J. and Lowe,J.B.
  TITLE     Molecular cloning of a fourth member of a human alpha
            (1,3)fucosyltransferase gene family. Multiple homologous sequences
            that determine expression of the Lewis x, sialyl Lewis x, and
            difucosyl sialyl Lewis x epitopes
  JOURNAL   J. Biol. Chem. 267 (34), 24575-24584 (1992)
   PUBMED   1339443
  REMARK    Erratum:[J Biol Chem 1993 Aug 25;268(24):18398]
REFERENCE   10 (bases 1 to 3009)
  AUTHORS   Koszdin,K.L. and Bowen,B.R.
  TITLE     The cloning and expression of a human alpha-1,3 fucosyltransferase
            capable of forming the E-selectin ligand
  JOURNAL   Biochem. Biophys. Res. Commun. 187 (1), 152-157 (1992)
   PUBMED   1520296
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA622182.1, DA628976.1,
            BC061700.1 and AC024592.5.
            
            Summary: The protein encoded by this gene is a Golgi stack membrane
            protein that is involved in the creation of sialyl-Lewis X, an
            E-selectin ligand. Mutations in this gene are a cause of
            fucosyltransferase-6 deficiency. Two transcript variants encoding
            the same protein have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both 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 :: BC061700.1, U27336.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-91                DA622182.1         2-92
            92-130              DA628976.1         87-125
            131-1135            BC061700.1         121-1125
            1136-3009           AC024592.5         10240-12113         c
FEATURES             Location/Qualifiers
     source          1..3009
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..3009
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="fucosyltransferase 6 (alpha (1,3)
                     fucosyltransferase)"
                     /db_xref="GeneID:2528"
                     /db_xref="HGNC:4017"
                     /db_xref="MIM:136836"
     exon            1..1055
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /inference="alignment:Splign:1.39.8"
     STS             944..2237
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /db_xref="UniSTS:481220"
     exon            1056..3009
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    1062..1064
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="upstream in-frame stop codon"
     CDS             1068..2147
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /EC_number="2.4.1.65"
                     /note="galactoside 3-L-fucosyltransferase;
                     fucosyltransferase VI"
                     /codon_start=1
                     /product="alpha-(1,3)-fucosyltransferase"
                     /protein_id="NP_001035791.1"
                     /db_xref="GI:103472033"
                     /db_xref="CCDS:CCDS12152.1"
                     /db_xref="GeneID:2528"
                     /db_xref="HGNC:4017"
                     /db_xref="MIM:136836"
                     /translation="
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRCSEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRSDSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRYKFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFRWRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT
"
     misc_feature    1104..2141
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /note="Glycosyltransferase family 10 (fucosyltransferase);
                     Region: Glyco_transf_10; pfam00852"
                     /db_xref="CDD:144445"
     misc_feature    1110..1169
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P51993.1);
                     transmembrane region"
     variation       1437
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:778805"
     STS             1517..2234
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /standard_name="FUT6_V46"
                     /db_xref="UniSTS:277258"
     variation       1666
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2879401"
     variation       1670
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4041473"
     variation       1671
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3964631"
     variation       1709
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:364587"
     variation       1755
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:364637"
     variation       1760
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:443907"
     STS             2174..2404
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /standard_name="RH80293"
                     /db_xref="UniSTS:85240"
     STS             2178..2401
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /standard_name="SGC35572"
                     /db_xref="UniSTS:9344"
     variation       2717
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:778806"
     STS             2754..2856
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /standard_name="D11S3114"
                     /db_xref="UniSTS:152207"
     STS             2837..2925
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     variation       2867
                     /gene="FUT6"
                     /gene_synonym="FCT3A; FT1A; Fuc-TVI; FucT-VI"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:778807"
ORIGIN      
aaaaccagtattccagatcatttctctccattccaggaagtttgcatagctccctggacttctgctttgcactgccctgcaggagtgggtggggaaaggaagtggctttgaggcacacagaggggcttgttgaggccaccggaggaagcttctgccaccaatatgggacctgtgcccagcctaccagaagagagcatctgaaaacatgtatcgacatggtaacccctctgcttgaagcctcacatggctccctattgccttggtgctgaacaccctatggctgaccgtggcccagcctctgcaacagctctgcctcctctccagtggtgaagacccagcctgctgagactcctcctgcagttcctcaacatgcctgcatttctgctgcctcagggcctttgcgaaggttgttccttgtaactggaatgcccttccatcccttttttattcaaaaggctgcaattttaattgaagaaagttcccttccaaggttcatgagttgcctgacttgcccaccggtttcctgcaagatcccttggcctggcacttagtgctcaggaaatatttggtgatgggccaactgagtgagaaggtgggatctggtgggaaggaaagcggaaaggtagaaattctgctcacttcctcattcccacctcccaaggaacccctggtgtccctgtggaacccgctttgggaaccggtggttcaggtcagccttttcactttgtactcaaagccacatcgcattgaagccacaggtggggcaaggtcatgcatgacctgagtctccaaatcccttcaccctgtttggttctgcaacggggattaggggagccccacgatttgttttcaaaggatgtccgggctccaggacaggatgccctgggtcacctgatgacaggtgtggtggttggaaagggcctggtttcagctccgggtacacttcctccttccttctgctgcgtggtgtggcctcttccacgtcctcagaatccagctgttactccgtccgcggcctctcagctctagggccctctgcacactggcccccccagatactctgacccatggatcccctgggcccggccaagccacagtggtcgtggcgctgctgtctgaccacgctgctgtttcagctgctgatggctgtgtgtttcttctcctatctgcgtgtgtctcaagacgatcccactgtgtaccctaatgggtcccgcttcccagacagcacagggacccccgcccactccatccccctgatcctgctgtggacgtggccttttaacaaacccatagctctgccccgctgctcagagatggtgcctggcacggctgactgcaacatcactgccgaccgcaaggtgtatccacaggcagacgcggtcatcgtgcaccaccgagaggtcatgtacaaccccagtgcccagctcccacgctccccgaggcggcaggggcagcgatggatctggttcagcatggagtccccaagccactgctggcagctgaaagccatggacggatacttcaatctcaccatgtcctaccgcagcgactccgacatcttcacgccctacggctggctggagccgtggtccggccagcctgcccacccaccgctcaacctctcggccaagaccgagctggtggcctgggcagtgtccaactgggggccaaactccgccagggtgcgctactaccagagcctgcaggcccatctcaaggtggacgtgtacggacgctcccacaagcccctgccccagggaaccatgatggagacgctgtcccggtacaagttctatctggccttcgagaactccttgcaccccgactacatcaccgagaagctgtggaggaacgccctggaggcctgggccgtgcccgtggtgctgggccccagcagaagcaactacgagaggttcctgccacccgacgccttcatccacgtggacgacttccagagccccaaggacctggcccggtacctgcaggagctggacaaggaccacgcccgctacctgagctactttcgctggcgggagacgctgcggcctcgctccttcagctgggcactcgctttctgcaaggcctgctggaaactgcaggaggaatccaggtaccagacacgcggcatagcggcttggttcacctgagaggctggtgtggggcctgggctgccaggaacctcattttcctggggcctcacctgagtgggggcctcatctacctaaggactcgtttgcctgaagcttcacctgcctgaggactcacctgcctgggacggtcacctgttgcagcttcacctgcctggggattcacctacctgggtcctcactttcctggggcctcacctgctggagtcttcggtggccaggtatgtcccttacctgggatttcacatgctggcttccaggagcgtcccctgcggaagcctggcctgctggggatgtctcctggggactttgcctactggggacctcggctgttggggactttacctgctgggacctgctcccagagaccttccacactgaatctcacctgctaggagcctcacctgctggggacctcaccctggagggcactgggccctgggaactggcacccatggggccccacccatgagtgatggttctggctgatttgtttgtgatgttgttagccgcctgtgaggggtgcagagagataatcaccgcaccgtttccagatgtaatactgcaaagaaaaccgatgatgaggccgggtgcggtggctcacacctgtaatcccagcactttgggaggccgaggcaggcggatcacaaggtcaggagatcgagaccatcctggccaatatggtgaaacccgtctctactaaaaatacaaaaatttgccgggcgtggtggtgcatgcctgtaatcccagctacttgggaagctgaggcaggagaatcgcttgaaccagagagtcggaggttgcagtaagccgagatcgcgccactgcactccagcctggcgacagagcgagactctgtctc
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:2528 -> Molecular function: GO:0008417 [fucosyltransferase activity] evidence: TAS
            GeneID:2528 -> Molecular function: GO:0017060 [3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity] evidence: IEA
            GeneID:2528 -> Molecular function: GO:0046920 [alpha-(1->3)-fucosyltransferase activity] evidence: TAS
            GeneID:2528 -> Biological process: GO:0006486 [protein glycosylation] evidence: IEA
            GeneID:2528 -> Biological process: GO:0006486 [protein glycosylation] evidence: TAS
            GeneID:2528 -> Biological process: GO:0036065 [fucosylation] evidence: TAS
            GeneID:2528 -> Biological process: GO:0042355 [L-fucose catabolic process] evidence: NAS
            GeneID:2528 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: TAS
            GeneID:2528 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
            GeneID:2528 -> Cellular component: GO:0032580 [Golgi cisterna membrane] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_001035791 -> EC 2.4.1.65

by @meso_cacase at DBCLS
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