ID:MGT4C_HUMAN DESCRIPTION: RecName: Full=Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C; EC=2.4.1.145; AltName: Full=N-acetylglucosaminyltransferase IV homolog; Short=hGnT-IV-H; AltName: Full=N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVc; Short=GlcNAc-T IVc; Short=GnT-IVc; Short=N-acetylglucosaminyltransferase IVc; AltName: Full=UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVc; FUNCTION: Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N- linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains (By similarity). Does not catalyze the transfer of GlcNAc to the Manalpha1-6 arm to form GlcNAcBeta1-4Manalpha1-6 linkage ('GnT-VI' activity). CATALYTIC ACTIVITY: UDP-N-acetyl-D-glucosamine + 3-(2-(N-acetyl- beta-D-glucosaminyl)-alpha-D-mannosyl)-beta-D-mannosyl-R = UDP + 3-(2,4-bis(N-acetyl-beta-D-glucosaminyl)-alpha-D-mannosyl)-beta-D- mannosyl-R. COFACTOR: Divalent metal cations (By similarity). PATHWAY: Protein modification; protein glycosylation. SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). TISSUE SPECIFICITY: Expressed in heart, adrenal gland, testis, liver, brain and fetal brain. Not expressed in pancreas. SIMILARITY: Belongs to the glycosyltransferase 54 family. SEQUENCE CAUTION: Sequence=AAH26068.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Apolipoproteins B Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
Blood Cells Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903294]
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
Body Height Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
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.
Pfam Domains: PF04666 - N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
ModBase Predicted Comparative 3D Structure on Q9UBM8
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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.
AB024729 - Homo sapiens hGnT-IV-H mRNA for alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homologue, complete cds. AB024730 - Homo sapiens hGnT-IV-H alt mRNA for alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homologue, complete cds. BC035851 - Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative), mRNA (cDNA clone IMAGE:5752733), with apparent retained intron. AK127727 - Homo sapiens cDNA FLJ45827 fis, clone NT2RP8004306, highly similar to Homo sapiens UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV, mRNA. AK299253 - Homo sapiens cDNA FLJ56141 complete cds, highly similar to Homo sapiens UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV, mRNA. BC064141 - Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative), mRNA (cDNA clone MGC:75408 IMAGE:30378187), complete cds. KJ898555 - Synthetic construct Homo sapiens clone ccsbBroadEn_07949 MGAT4C gene, encodes complete protein. BC026068 - Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative), mRNA (cDNA clone IMAGE:4828670), partial cds.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00510 - N-Glycan biosynthesis
Reactome (by CSHL, EBI, and GO)
Protein Q9UBM8 (Reactome details) participates in the following event(s):
R-HSA-975903 Addition of GlcNAc to position 4 by N-acetylglucosaminyltransferase (GnT)-IV R-HSA-975577 N-Glycan antennae elongation R-HSA-975576 N-glycan antennae elongation in the medial/trans-Golgi R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
