Predicate | Object |
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rdf:type | |
biopax3:comment |
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. CATALYTIC ACTIVITY: UDP-galactose + glycoprotein N-acetyl-D- galactosamine = UDP + glycoprotein D-galactosyl-1,3-N-acetyl-D- galactosamine. COFACTOR: Magnesium (By similarity). PATHWAY: Protein modification; protein glycosylation. SUBUNIT: Homodimer; disulfide-linked (By similarity). Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity. SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein (By similarity). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NS00-1; Sequence=Displayed; Name=2; IsoId=Q9NS00-2; Sequence=VSP_024809; Note=No experimental confirmation available; TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, heart, placenta and liver. MISCELLANEOUS: Aberrant O-galactosylation of IgA1 molecules plays a role in the development and progression of IgA nephropathy (IgAN). Genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN. SIMILARITY: Belongs to the glycosyltransferase 31 family. Beta3- Gal-T subfamily. WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3- galactosyltransferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_447"; GENE SYNONYMS:C1GALT1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 363 AA; 42203 MW; 01F472B55C5F526F CRC64;
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biopax3:xref | |
biopax3:displayName |
C1GLT_HUMAN
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biopax3:name |
2.4.1.122,
B3Gal-T8,
Beta-1,3-galactosyltransferase,
C1GALT1,
C1GalT1,
Core 1 O-glycan T-synthase,
Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1,
Core 1 beta1,3-galactosyltransferase 1,
Core 1 beta3-Gal-T1
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biopax3:entityFeature | |
biopax3:organism | |
biopax3:sequence |
MASKSWLNFLTFLCGSAIGFLLCSQLFSILLGEKVDTQPNVLHNDPHARHSDDNGQNHLEGQMNFNADSSQHKDENTDIAENLYQKVRILCWVMTGPQNLEKKAKHVKATWAQRCNKVLFMSSEENKDFPAVGLKTKEGRDQLYWKTIKAFQYVHEHYLEDADWFLKADDDTYVILDNLRWLLSKYDPEEPIYFGRRFKPYVKQGYMSGGAGYVLSKEALKRFVDAFKTDKCTHSSSIEDLALGRCMEIMNVEAGDSRDTIGKETFHPFVPEHHLIKGYLPRTFWYWNYNYYPPVEGPGCCSDLAVSFHYVDSTTMYELEYLVYHLRPYGYLYRYQPTLPERILKEISQANKNEDTKVKLGNP
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biopax3:standardName |
Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
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