Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 1, mRNA.
| RefSeq Version | NM_000150.2, 103472034 |
| Length | 3137 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 1, mRNA. |
| Product | alpha-(1,3)-fucosyltransferase |
| Comment | 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]. Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein. |
| RefSeq | NP_000141.1 |
| CDS | 1196..2275 | Exon (1) | 1..1055 | Exon (2) | 1..1055 | Exon (3) | 1056..1183 | Exon (4) | 1184..3137 |
| Translation | MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLRVSQDDPTVYPNGSRFPDSTGTPAHS
IPLILLWTWPFNKPIALPRCSEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQL
PRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRSDSDIFTPYGWLEPWSGQPAH
PPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY
KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKD
LARYLQELDKDHARYLSYFRWRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT
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| Position | Chain | Variation | Link |
| complement(130) | - | c, a | dbSNP:778798 |
| complement(518) | - | t, c | dbSNP:116953194 |
| complement(907) | - | c, a | dbSNP:116792659 |
| complement(1014) | - | t, c | dbSNP:73920069 |
| complement(1115..1116) | - | , c | dbSNP:35285366 |
| complement(1185) | - | c, a | dbSNP:9807877 |
| complement(1258) | - | t, c | dbSNP:113764706 |
| complement(1264) | - | g, c | dbSNP:17855737 |
| complement(1367) | - | t, c | dbSNP:112849079 |
| complement(1524) | - | t, c | dbSNP:72486354 |
| complement(1531) | - | t, g | dbSNP:114460969 |
| complement(1555) | - | g, a | dbSNP:115405004 |
| 1565 | + | c, t | dbSNP:778805 |
| complement(1571) | - | g, a | dbSNP:111589452 |
| complement(1682) | - | t, c | dbSNP:61731581 |
| complement(1693) | - | t, c | dbSNP:61730512 |
| complement(1699) | - | g, a | dbSNP:61744948 |
| complement(1713) | - | g, a | dbSNP:61734103 |
| complement(1722) | - | c, a | dbSNP:111494384 |
| complement(1736) | - | g, a | dbSNP:61744945 |
| complement(1780) | - | t, c | dbSNP:401508 |
| 1794 | + | a, g | dbSNP:2879401 |
| 1798 | + | a, g | dbSNP:4041473 |
| 1799 | + | a, g | dbSNP:3964631 |
| complement(1804) | - | t, g, c | dbSNP:445878 |
| 1837 | + | c, t | dbSNP:364587 |
| 1883 | + | a, c | dbSNP:364637 |
| 1888 | + | a, g | dbSNP:443907 |
| complement(1924) | - | g, a | dbSNP:79359759 |
| 1934 | + | a, c, g, t | dbSNP:17855739 |
| complement(2000) | - | t, c | dbSNP:61737302 |
| complement(2035) | - | g, a | dbSNP:61742165 |
| complement(2049) | - | g, a | dbSNP:61742236 |
| complement(2050) | - | t, c | dbSNP:13346240 |
| complement(2050) | - | t, c | dbSNP:112313064 |
| complement(2074) | - | g, a | dbSNP:61732896 |
| complement(2074) | - | g, a | dbSNP:62110261 |
| complement(2102) | - | g, c | dbSNP:61745631 |
| complement(2102) | - | g, c | dbSNP:61147939 |
| complement(2154) | - | t, c | dbSNP:61734104 |
| complement(2166) | - | g, a | dbSNP:61739551 |
| complement(2172) | - | t, c | dbSNP:61739552 |
| complement(2197) | - | g, c | dbSNP:61740561 |
| complement(2578) | - | t, c | dbSNP:116794036 |
| complement(2695) | - | , g | dbSNP:34079155 |
| complement(2784) | - | g, c | dbSNP:12971282 |
| 2845 | + | a, g | dbSNP:778806 |
| complement(2852) | - | t, c | dbSNP:12986368 |
| complement(2975) | - | g, a | dbSNP:35845041 |
| complement(2977) | - | , t | dbSNP:35628490 |
| 2995 | + | c, t | dbSNP:778807 |
| complement(3136..3137) | - | , ttt | dbSNP:72127975 |
| Gene Symbol | FUT6 |
| Gene Synonym | FCT3A; FLJ40754; FT1A; Fuc-TVI; FucT-VI |
| Chromosome | 19 |
| Locus Map | 19p13.3 |
| All Transcripts | NM_000150 , NM_001040701 |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Development of immunohistochemistry assays to assess GALNT14 and FUT3/6 in clinical trials of dulanermin and drozitumab . |
| Author | Stern,H.M., Padilla,M., Wagner,K., Amler,L. and Ashkenazi,A. |
| Journal | Clin. Cancer Res. 16 (5), 1587-1596 (2010) |
| Title | Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1alpha as a master regulator of plasma protein fucosylation . |
| Author | 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. |
| Journal | PLoS Genet. 6 (12), E1001256 (2010) |
| Title | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip . |
| Author | Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. |
| Journal | Am. J. Hum. Genet. 85 (5), 628-642 (2009) |
| Title | Activation of host antiviral RNA-sensing factors necessary for herpes simplex virus type 1-activated transcription of host cell fucosyltransferase genes FUT3, FUT5, and FUT6 and subsequent expression of sLe(x) in virus-infected cells . |
| Author | Norden,R., Nystrom,K. and Olofsson,S. |
| Journal | Glycobiology 19 (7), 776-788 (2009) |
| Title | Expression of human chromosome 19p alpha(1,3)-fucosyltransferase genes in normal tissues. Alternative splicing, polyadenylation, and isoforms . |
| Author | Cameron,H.S., Szczepaniak,D. and Weston,B.W. |
| Journal | J. Biol. Chem. 270 (34), 20112-20122 (1995) |
| Title | Physical maps of human alpha (1,3)fucosyltransferase genes FUT3-FUT6 on chromosomes 19p13.3 and 11q21 . |
| Author | McCurley,R.S., Recinos,A. III, Olsen,A.S., Gingrich,J.C., Szczepaniak,D., Cameron,H.S., Krauss,R. and Weston,B.W. |
| Journal | Genomics 26 (1), 142-146 (1995) |
| 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 . |
| Author | Reguigne-Arnould,I., Couillin,P., Mollicone,R., Faure,S., Fletcher,A., Kelly,R.J., Lowe,J.B. and Oriol,R. |
| Journal | Cytogenet. Cell Genet. 71 (2), 158-162 (1995) |
| 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 . |
| Author | Weston,B.W., Smith,P.L., Kelly,R.J. and Lowe,J.B. |
| Journal | J. Biol. Chem. 267 (34), 24575-24584 (1992) |
| Title | The cloning and expression of a human alpha-1,3 fucosyltransferase capable of forming the E-selectin ligand . |
| Author | Koszdin,K.L. and Bowen,B.R. |
| Journal | Biochem. Biophys. Res. Commun. 187 (1), 152-157 (1992) |
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