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Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.


RefSeq Accession Definition Services Price Order
NM_004482 Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA. ORF Sequence $551.58
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_004482.3, 153266877
Length 3280 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.
Product polypeptide N-acetylgalactosaminyltransferase 3
Comment

Summary: This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008].

RefSeq NP_004473.2
CDS 388..2289
Misc Feature(1)367..369
Misc Feature(2)367..369
Misc Feature(3)445..498
Misc Feature(4)445..498
Misc Feature(5)934..1824
Misc Feature(6)937..1266
Misc Feature(7)949..1866
Misc Feature(8)order(961..969,973..975,1060..1062,1147..1149,1156..1158,
Misc Feature(9)order(1216..1218,1222..1224,1630..1632)
Misc Feature(10)1453..1641
Misc Feature(11)1900..2268
Misc Feature(12)1906..2274
Misc Feature(13)order(1942..1944,1978..1980,1984..1986,2008..2013,
Misc Feature(14)order(2011..2019,2146..2154,2260..2268)
Exon (1)1..279
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (2)280..902
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (3)903..1075
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (4)1076..1225
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (5)1226..1460
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (6)1461..1578
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (7)1579..1779
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (8)1780..1911
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (9)1912..2013
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (10)2014..2166
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Exon (11)2167..3267
Gene:GALNT3
Gene Synonym:GalNAc-T3; HFTC; HHS
Translation MAHLKRLVKLHIKRHYHKKFWKLGAVIFFFIIVLVLMQREVSVQYSKEESRMERNMKNKN KMLDLMLEAVNNIKDAMPKMQIGAPVRQNIDAGERPCLQGYYTAAELKPVLDRPPQDSNA PGASGKAFKTTNLSVEEQKEKERGEAKHCFNAFASDRISLHRDLGPDTRPPECIEQKFKR CPPLPTTSVIIVFHNEAWSTLLRTVHSVLYSSPAILLKEIILVDDASVDEYLHDKLDEYV KQFSIVKIVRQRERKGLITARLLGATVATAETLTFLDAHCECFYGWLEPLLARIAENYTA VVSPDIASIDLNTFEFNKPSPYGSNHNRGNFDWSLSFGWESLPDHEKQRRKDETYPIKTP TFAGGLFSISKEYFEYIGSYDEEMEIWGGENIEMSFRVWQCGGQLEIMPCSVVGHVFRSK SPHSFPKGTQVIARNQVRLAEVWMDEYKEIFYRRNTDAAKIVKQKAFGDLSKRFEIKHRL QCKNFTWYLNNIYPEVYVPDLNPVISGYIKSVGQPLCLDVGENNQGGKPLIMYTCHGLGG NQYFEYSAQHEIRHNIQKELCLHAAQGLVQLKACTYKGHKTVVTGEQIWEIQKDQLLYNP FLKMCLSANGEHPSLVSCNPSDPLQKWILSQND
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Position Chain Variation Link
complement(93)-dbSNP:
complement(93)-t, adbSNP:111425435
complement(225)-g, cdbSNP:113347272
complement(438)-g, adbSNP:149612790
complement(475)-g, adbSNP:181288197
complement(504)-t, cdbSNP:150417505
complement(519)-t, cdbSNP:149809222
complement(552)-g, cdbSNP:140452696
complement(576)-t, cdbSNP:188814778
complement(591)-t, cdbSNP:201112446
complement(596)-g, adbSNP:200433365
complement(614)-g, adbSNP:112139686
complement(625)-t, adbSNP:200044494
complement(680)-c, adbSNP:143136193
complement(725)-t, cdbSNP:200762567
complement(760)-t, cdbSNP:200595607
complement(766)-c, adbSNP:139145525
complement(794)-t, cdbSNP:114745771
complement(813)-t, cdbSNP:200856137
complement(871)-t, cdbSNP:137853086
complement(880)-t, cdbSNP:147779149
complement(891)-g, adbSNP:183709224
complement(894)-t, cdbSNP:150682922
complement(931)-dbSNP:
complement(931)-g, adbSNP:148553477
complement(936)-g, adbSNP:144776270
complement(977)-g, adbSNP:201078015
complement(981)-g, cdbSNP:145021953
complement(986)-g, adbSNP:138645426
complement(1056)-t, cdbSNP:13423840
complement(1072)-t, cdbSNP:4641949
complement(1105)-dbSNP:
complement(1105)-g, cdbSNP:146978168
complement(1152)-t, cdbSNP:73972163
complement(1160)-c, adbSNP:45498901
complement(1161)-t, gdbSNP:144214001
complement(1169)-t, cdbSNP:111875321
complement(1186)-c, adbSNP:114933655
complement(1202)-c, adbSNP:137853090
complement(1203)-t, cdbSNP:140732631
complement(1218)-t, adbSNP:139397826
complement(1252)-dbSNP:
complement(1252)-g, adbSNP:201022045
complement(1283)-g, adbSNP:150889917
complement(1284)-c, adbSNP:75931918
complement(1288)-t, cdbSNP:143647583
complement(1312)-t, cdbSNP:149544089
complement(1326)-t, cdbSNP:141293620
complement(1353)-t, gdbSNP:137853088
complement(1369)-g, adbSNP:138728996
complement(1463)-dbSNP:
complement(1463)-c, adbSNP:137853091
complement(1499)-t, cdbSNP:200518001
complement(1581)-dbSNP:
complement(1581)-t, cdbSNP:150937941
complement(1614)-t, adbSNP:149017052
complement(1624)-t, cdbSNP:143799357
complement(1640)-t, cdbSNP:143396063
complement(1706)-t, gdbSNP:199930810
complement(1735)-t, cdbSNP:146096050
complement(1828)-dbSNP:
complement(1828)-t, cdbSNP:137853089
complement(1911)-g, adbSNP:144331248
complement(1928)-dbSNP:
complement(1928)-t, cdbSNP:200031817
complement(1992)-t, adbSNP:200815957
complement(2045)-dbSNP:
complement(2045)-t, cdbSNP:201855584
complement(2092)-t, cdbSNP:146521644
2107+g, tdbSNP:267606841
complement(2144)-t, cdbSNP:148063331
complement(2161)-t, cdbSNP:137853087
complement(2199)-dbSNP:
complement(2199)-t, cdbSNP:142817583
complement(2214)-g, adbSNP:142136047
complement(2244)-g, adbSNP:150299191
complement(2257)-g, adbSNP:201456142
complement(2290)-c, adbSNP:146884408
complement(2293)-g, adbSNP:112704936
complement(2475)-g, adbSNP:183674066
complement(2561)-t, cdbSNP:115677211
complement(2570)-t, adbSNP:13429321
complement(2607..2608)-, tadbSNP:140333197
complement(2630)-t, adbSNP:77911197
complement(2794)-g, adbSNP:80130906
complement(2804)-t, cdbSNP:144354033
complement(2856)-g, adbSNP:1048222
complement(2976)-c, adbSNP:191523871
complement(2999)-t, adbSNP:11538293
complement(3005)-, tdbSNP:66578673
complement(3063)-g, adbSNP:11538294
complement(3072)-t, cdbSNP:115493554
complement(3159)-t, adbSNP:189290881
complement(3181)-c, adbSNP:150039125
complement(3224..3225)-, adbSNP:144647329
Gene SymbolGALNT3
Gene SynonymGalNAc-T3; HFTC; HHS
Chromosome2
Locus Map2q24-q31
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_004482 Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA. Full Length $1148.00
ORF Sequence $551.58
Title Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture .
Author Estrada,K., Styrkarsdottir,U., Evangelou,E., Hsu,Y.H., Duncan,E.L., Ntzani,E.E., Oei,L., Albagha,O.M., Amin,N., Kemp,J.P., Koller,D.L., Li,G., Liu,C.T., Minster,R.L., Moayyeri,A., Vandenput,L., Willner,D., Xiao,S.M., Yerges-Armstrong,L.M., Zheng,H.F., Alonso,N., Eriksson,J., Kammerer,C.M., Kaptoge,S.K., Leo,P.J., Thorleifsson,G., Wilson,S.G., Wilson,J.F., Aalto,V., Alen,M., Aragaki,A.K., Aspelund,T., Center,J.R., Dailiana,Z., Duggan,D.J., Garcia,M., Garcia-Giralt,N., Giroux,S., Hallmans,G., Hocking,L.J., Husted,L.B., Jameson,K.A., Khusainova,R., Kim,G.S., Kooperberg,C., Koromila,T., Kruk,M., Laaksonen,M., Lacroix,A.Z., Lee,S.H., Leung,P.C., Lewis,J.R., Masi,L., Mencej-Bedrac,S., Nguyen,T.V., Nogues,X., Patel,M.S., Prezelj,J., Rose,L.M., Scollen,S., Siggeirsdottir,K., Smith,A.V., Svensson,O., Trompet,S., Trummer,O., van Schoor,N.M., Woo,J., Zhu,K., Balcells,S., Brandi,M.L., Buckley,B.M., Cheng,S., Christiansen,C., Cooper,C., Dedoussis,G., Ford,I., Frost,M., Goltzman,D., Gonzalez-Macias,J., Kahonen,M., Karlsson,M., Khusnutdinova,E., Koh,J.M., Kollia,P., Langdahl,B.L., Leslie,W.D., Lips,P., Ljunggren,O., Lorenc,R.S., Marc,J., Mellstrom,D., Obermayer-Pietsch,B., Olmos,J.M., Pettersson-Kymmer,U., Reid,D.M., Riancho,J.A., Ridker,P.M., Rousseau,F., Slagboom,P.E., Tang,N.L., Urreizti,R., Van Hul,W., Viikari,J., Zarrabeitia,M.T., Aulchenko,Y.S., Castano-Betancourt,M., Grundberg,E., Herrera,L., Ingvarsson,T., Johannsdottir,H., Kwan,T., Li,R., Luben,R., Medina-Gomez,C., Palsson,S.T., Reppe,S., Rotter,J.I., Sigurdsson,G., van Meurs,J.B., Verlaan,D., Williams,F.M., Wood,A.R., Zhou,Y., Gautvik,K.M., Pastinen,T., Raychaudhuri,S., Cauley,J.A., Chasman,D.I., Clark,G.R., Cummings,S.R., Danoy,P., Dennison,E.M., Eastell,R., Eisman,J.A., Gudnason,V., Hofman,A., Jackson,R.D., Jones,G., Jukema,J.W., Khaw,K.T., Lehtimaki,T., Liu,Y., Lorentzon,M., McCloskey,E., Mitchell,B.D., Nandakumar,K., Nicholson,G.C., Oostra,B.A., Peacock,M., Pols,H.A., Prince,R.L., Raitakari,O., Reid,I.R., Robbins,J., Sambrook,P.N., Sham,P.C., Shuldiner,A.R., Tylavsky,F.A., van Duijn,C.M., Wareham,N.J., Cupples,L.A., Econs,M.J., Evans,D.M., Harris,T.B., Kung,A.W., Psaty,B.M., Reeve,J., Spector,T.D., Streeten,E.A., Zillikens,M.C., Thorsteinsdottir,U., Ohlsson,C., Karasik,D., Richards,J.B., Brown,M.A., Stefansson,K., Uitterlinden,A.G., Ralston,S.H., Ioannidis,J.P., Kiel,D.P. and Rivadeneira,F.
Journal Nat. Genet. 44 (5), 491-501 (2012)
Title Overexpression of GalNAc-transferase GalNAc-T3 promotes pancreatic cancer cell growth .
Author Taniuchi,K., Cerny,R.L., Tanouchi,A., Kohno,K., Kotani,N., Honke,K., Saibara,T. and Hollingsworth,M.A.
Journal Oncogene 30 (49), 4843-4854 (2011)
Title Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis .
Author Yancovitch,A., Hershkovitz,D., Indelman,M., Galloway,P., Whiteford,M., Sprecher,E. and Kilic,E.
Journal J. Bone Miner. Metab. 29 (5), 621-625 (2011)
Title Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk .
Author Duncan,E.L., Danoy,P., Kemp,J.P., Leo,P.J., McCloskey,E., Nicholson,G.C., Eastell,R., Prince,R.L., Eisman,J.A., Jones,G., Sambrook,P.N., Reid,I.R., Dennison,E.M., Wark,J., Richards,J.B., Uitterlinden,A.G., Spector,T.D., Esapa,C., Cox,R.D., Brown,S.D., Thakker,R.V., Addison,K.A., Bradbury,L.A., Center,J.R., Cooper,C., Cremin,C., Estrada,K., Felsenberg,D., Gluer,C.C., Hadler,J., Henry,M.J., Hofman,A., Kotowicz,M.A., Makovey,J., Nguyen,S.C., Nguyen,T.V., Pasco,J.A., Pryce,K., Reid,D.M., Rivadeneira,F., Roux,C., Stefansson,K., Styrkarsdottir,U., Thorleifsson,G., Tichawangana,R., Evans,D.M. and Brown,M.A.
Journal PLoS Genet. 7 (4), E1001372 (2011)
Title Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations .
Author Ichikawa,S., Baujat,G., Seyahi,A., Garoufali,A.G., Imel,E.A., Padgett,L.R., Austin,A.M., Sorenson,A.H., Pejin,Z., Topouchian,V., Quartier,P., Cormier-Daire,V., Dechaux,M., Malandrinou,F.Ch., Singhellakis,P.N., Le Merrer,M. and Econs,M.J.
Journal Am. J. Med. Genet. A 152A (4), 896-903 (2010)
Title Expression of polypeptide GalNAc-transferases in stratified epithelia and squamous cell carcinomas: immunohistological evaluation using monoclonal antibodies to three members of the GalNAc-transferase family .
Author Mandel,U., Hassan,H., Therkildsen,M.H., Rygaard,J., Jakobsen,M.H., Juhl,B.R., Dabelsteen,E. and Clausen,H.
Journal Glycobiology 9 (1), 43-52 (1999)
Title Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family .
Author Bennett,E.P., Weghuis,D.O., Merkx,G., van Kessel,A.G., Eiberg,H. and Clausen,H.
Journal Glycobiology 8 (6), 547-555 (1998)
Title Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus .
Author Rottger,S., White,J., Wandall,H.H., Olivo,J.C., Stark,A., Bennett,E.P., Whitehouse,C., Berger,E.G., Clausen,H. and Nilsson,T.
Journal J. Cell. Sci. 111 (PT 1), 45-60 (1998)
Title Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3 .
Author Wandall,H.H., Hassan,H., Mirgorodskaya,E., Kristensen,A.K., Roepstorff,P., Bennett,E.P., Nielsen,P.A., Hollingsworth,M.A., Burchell,J., Taylor-Papadimitriou,J. and Clausen,H.
Journal J. Biol. Chem. 272 (38), 23503-23514 (1997)
Title cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. Polypeptide N-acetylgalactosaminyltransferase, GalNAc-t3 .
Author Bennett,E.P., Hassan,H. and Clausen,H.
Journal J. Biol. Chem. 271 (29), 17006-17012 (1996)

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