Human Gene C1GALT1 (uc003srb.3) Description and Page Index
Description: Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA. RefSeq Summary (NM_020156): The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.2784355.1, SRR7346977.2348202.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr7:7,222,246-7,288,280 Size: 66,035 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr7:7,273,951-7,283,358 Size: 9,408 Coding Exon Count: 3
ID:C1GLT_HUMAN DESCRIPTION: RecName: Full=Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1; EC=220.127.116.11; AltName: Full=B3Gal-T8; AltName: Full=Core 1 O-glycan T-synthase; AltName: Full=Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1; Short=Beta-1,3-galactosyltransferase; AltName: Full=Core 1 beta1,3-galactosyltransferase 1; Short=C1GalT1; Short=Core 1 beta3-Gal-T1; 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-alpha-D-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). 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";
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NS00
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.