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Identification
HMDB Protein ID HMDBP06975
Secondary Accession Numbers
  • 12594
Name Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
Synonyms
  1. B3Gal-T8
  2. Beta-1,3-galactosyltransferase
  3. C1GalT1
  4. Core 1 O-glycan T-synthase
  5. Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1
  6. Core 1 beta1,3-galactosyltransferase 1
  7. Core 1 beta3-Gal-T1
Gene Name C1GALT1
Protein Type Unknown
Biological Properties
General Function Involved in transferase activity, transferring glycosyl groups
Specific Function Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development.
Pathways
  • Mucin type O-glycan biosynthesis
  • protein glycosylation
Reactions
Uridine diphosphategalactose + glycoprotein N-acetyl-D-galactosamine → Uridine 5'-diphosphate + glycoprotein D-galactosyl-(1->3)-N-acetyl-D-galactosamine details
UDP-D-galactose + Tn antigen → UDP + T antigen details
GO Classification
Biological Process
O-glycan processing
post-translational protein modification
angiogenesis
cell differentiation
kidney development
Cellular Component
integral to membrane
Golgi membrane
Component
membrane
cell part
Function
catalytic activity
transferase activity
transferase activity, transferring glycosyl groups
Molecular Function
metal ion binding
glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity
Cellular Location
  1. Membrane
  2. Single-pass type II membrane protein
Gene Properties
Chromosome Location 7
Locus 7p21.3
SNPs C1GALT1
Gene Sequence
>1092 bp
ATGGCCTCTAAATCCTGGCTGAATTTTTTAACCTTCCTCTGTGGATCAGCAATAGGATTT
CTTTTATGTTCTCAGCTATTTAGTATTTTGTTGGGAGAAAAGGTTGACACCCAGCCTAAT
GTTCTTCATAATGATCCTCATGCAAGGCATTCAGATGATAATGGACAGAATCATCTAGAA
GGACAAATGAACTTCAATGCAGATTCTAGCCAACATAAAGATGAGAACACAGACATTGCT
GAAAACCTCTATCAGAAAGTTAGAATTCTTTGCTGGGTTATGACCGGCCCTCAAAACCTA
GAGAAAAAGGCCAAACACGTCAAAGCTACTTGGGCCCAGCGTTGTAACAAAGTGTTGTTT
ATGAGTTCAGAAGAAAATAAAGACTTCCCTGCTGTGGGACTGAAAACCAAAGAAGGCAGA
GATCAACTATACTGGAAAACAATTAAAGCTTTTCAGTATGTTCATGAACATTATTTAGAA
GATGCTGATTGGTTTTTGAAAGCAGATGATGACACGTATGTCATACTAGACAATTTGAGG
TGGCTTCTTTCAAAATACGACCCTGAAGAACCCATTTACTTTGGGAGAAGATTTAAGCCT
TATGTAAAGCAGGGCTACATGAGTGGAGGAGCAGGATATGTACTAAGCAAAGAAGCCTTG
AAAAGATTTGTTGATGCATTTAAAACAGACAAGTGTACACATAGTTCCTCCATTGAAGAC
TTAGCACTGGGGAGATGCATGGAAATTATGAATGTAGAAGCAGGAGATTCCAGAGATACC
ATTGGAAAAGAAACTTTTCATCCCTTTGTGCCAGAACACCATTTAATTAAAGGTTATCTA
CCTAGAACGTTTTGGTACTGGAATTACAACTATTATCCTCCTGTAGAGGGTCCTGGTTGC
TGCTCTGATCTTGCAGTTTCTTTTCACTATGTTGATTCTACAACCATGTATGAGTTAGAA
TACCTCGTTTATCATCTTCGTCCATATGGTTATTTATACAGATATCAACCTACCTTACCT
GAACGTATACTAAAGGAAATTAGTCAAGCAAACAAAAATGAAGATACAAAAGTGAAGTTA
GGAAATCCTTGA
Protein Properties
Number of Residues 363
Molecular Weight 42202.5
Theoretical pI 6.638
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
MASKSWLNFLTFLCGSAIGFLLCSQLFSILLGEKVDTQPNVLHNDPHARHSDDNGQNHLE
GQMNFNADSSQHKDENTDIAENLYQKVRILCWVMTGPQNLEKKAKHVKATWAQRCNKVLF
MSSEENKDFPAVGLKTKEGRDQLYWKTIKAFQYVHEHYLEDADWFLKADDDTYVILDNLR
WLLSKYDPEEPIYFGRRFKPYVKQGYMSGGAGYVLSKEALKRFVDAFKTDKCTHSSSIED
LALGRCMEIMNVEAGDSRDTIGKETFHPFVPEHHLIKGYLPRTFWYWNYNYYPPVEGPGC
CSDLAVSFHYVDSTTMYELEYLVYHLRPYGYLYRYQPTLPERILKEISQANKNEDTKVKL
GNP
GenBank ID Protein 37674437
UniProtKB/Swiss-Prot ID Q9NS00
UniProtKB/Swiss-Prot Entry Name C1GLT_HUMAN
PDB IDs Not Available
GenBank Gene ID AC005532
GeneCard ID C1GALT1
GenAtlas ID C1GALT1
HGNC ID HGNC:24337
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. [PubMed:12690205 ]
  3. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK: The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. [PubMed:12853948 ]
  4. Ju T, Brewer K, D'Souza A, Cummings RD, Canfield WM: Cloning and expression of human core 1 beta1,3-galactosyltransferase. J Biol Chem. 2002 Jan 4;277(1):178-86. Epub 2001 Oct 24. [PubMed:11677243 ]
  5. Ju T, Cummings RD: A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16613-8. Epub 2002 Dec 3. [PubMed:12464682 ]
  6. Li GS, Zhang H, Lv JC, Shen Y, Wang HY: Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy. Kidney Int. 2007 Mar;71(5):448-53. Epub 2007 Jan 17. [PubMed:17228361 ]
  7. Zhu L, Tang W, Li G, Lv J, Ding J, Yu L, Zhao M, Li Y, Zhang X, Shen Y, Zhang H, Wang H: Interaction between variants of two glycosyltransferase genes in IgA nephropathy. Kidney Int. 2009 Jul;76(2):190-8. doi: 10.1038/ki.2009.99. Epub 2009 Apr 8. [PubMed:19357720 ]