Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.
| RefSeq Version | NM_004482.3, 153266877 |
| Length | 3280 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| 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]. |
| RefSeq | NP_004473.2 |
| CDS | 388..2289 | Exon (1) | 1..279 | Exon (2) | 1..279 | Exon (3) | 280..902 | Exon (4) | 903..1075 | Exon (5) | 1076..1225 | Exon (6) | 1226..1460 | Exon (7) | 1461..1578 | Exon (8) | 1579..1779 | Exon (9) | 1780..1911 | Exon (10) | 1912..2013 | Exon (11) | 2014..2166 | Exon (12) | 2167..3267 |
| Translation | MAHLKRLVKLHIKRHYHKKFWKLGAVIFFFIIVLVLMQREVSVQYSKEESRMERNMKNKN
KMLDLMLEAVNNIKDAMPKMQIGAPVRQNIDAGERPCLQGYYTAAELKPVLDRPPQDSNA
PGASGKAFKTTNLSVEEQKEKERGEAKHCFNAFASDRISLHRDLGPDTRPPECIEQKFKR
CPPLPTTSVIIVFHNEAWSTLLRTVHSVLYSSPAILLKEIILVDDASVDEYLHDKLDEYV
KQFSIVKIVRQRERKGLITARLLGATVATAETLTFLDAHCECFYGWLEPLLARIAENYTA
VVSPDIASIDLNTFEFNKPSPYGSNHNRGNFDWSLSFGWESLPDHEKQRRKDETYPIKTP
TFAGGLFSISKEYFEYIGSYDEEMEIWGGENIEMSFRVWQCGGQLEIMPCSVVGHVFRSK
SPHSFPKGTQVIARNQVRLAEVWMDEYKEIFYRRNTDAAKIVKQKAFGDLSKRFEIKHRL
QCKNFTWYLNNIYPEVYVPDLNPVISGYIKSVGQPLCLDVGENNQGGKPLIMYTCHGLGG
NQYFEYSAQHEIRHNIQKELCLHAAQGLVQLKACTYKGHKTVVTGEQIWEIQKDQLLYNP
FLKMCLSANGEHPSLVSCNPSDPLQKWILSQND
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| Position | Chain | Variation | Link |
| complement(93) | - | t, a | dbSNP:111425435 |
| complement(225) | - | g, c | dbSNP:113347272 |
| complement(614) | - | g, a | dbSNP:112139686 |
| complement(794) | - | t, c | dbSNP:114745771 |
| 871 | + | c, t | dbSNP:137853086 |
| complement(1056) | - | t, c | dbSNP:13423840 |
| complement(1072) | - | t, c | dbSNP:4641949 |
| complement(1152) | - | t, c | dbSNP:73972163 |
| complement(1160) | - | c, a | dbSNP:45498901 |
| complement(1169) | - | t, c | dbSNP:111875321 |
| complement(1186) | - | c, a | dbSNP:114933655 |
| 1202 | + | a, c | dbSNP:137853090 |
| complement(1284) | - | c, a | dbSNP:75931918 |
| 1353 | + | g, t | dbSNP:137853088 |
| 1463 | + | a, c | dbSNP:137853091 |
| 1828 | + | c, t | dbSNP:137853089 |
| complement(1968) | - | t, g | dbSNP:74764080 |
| 2161 | + | c, t | dbSNP:137853087 |
| complement(2293) | - | g, a | dbSNP:112704936 |
| complement(2561) | - | t, c | dbSNP:115677211 |
| complement(2570) | - | t, a | dbSNP:13429321 |
| complement(2630) | - | t, a | dbSNP:77911197 |
| complement(2794) | - | g, a | dbSNP:80130906 |
| 2856 | + | a, g | dbSNP:1048222 |
| complement(2999) | - | t, a | dbSNP:11538293 |
| complement(2999) | - | , t | dbSNP:66578673 |
| complement(3063) | - | g, a | dbSNP:11538294 |
| complement(3072) | - | t, c | dbSNP:115493554 |
| Gene Symbol | GALNT3 |
| Gene Synonym | DKFZp686C10199; GalNAc-T3; HFTC; HHS; MGC61909 |
| Chromosome | 2 |
| Locus Map | 2q24-q31 |
| All Transcripts | NM_004482 |
| 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 | Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3 . |
| Author | Joseph,L., Hing,S.N., Presneau,N., O'Donnell,P., Diss,T., Idowu,B.D., Joseph,S., Flanagan,A.M. and Delaney,D. |
| Journal | Skeletal Radiol. 39 (1), 63-68 (2010) |
| Title | A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis . |
| Author | Masi,L., Gozzini,A., Franchi,A., Campanacci,D., Amedei,A., Falchetti,A., Franceschelli,F., Marcucci,G., Tanini,A., Capanna,R. and Brandi,M.L. |
| Journal | J Bone Joint Surg Am 91 (5), 1190-1198 (2009) |
| Title | GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity . |
| Author | Chefetz,I., Kohno,K., Izumi,H., Uitto,J., Richard,G. and Sprecher,E. |
| Journal | Biochim. Biophys. Acta 1792 (1), 61-67 (2009) |
| Title | Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family . |
| Author | Laleye,A., Alao,M.J., Gbessi,G., Adjagba,M., Marche,M., Coupry,I., Redonnet-Vernhet,I., Lepreux,S., Ayivi,B., Darboux,R.B., Lacombe,D. and Arveiler,B. |
| Journal | Genet. Couns. 19 (2), 183-192 (2008) |
| 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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