Gene Gene information from NCBI Gene database.
Entrez ID 4245
Gene name Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Gene symbol MGAT1
Synonyms (NCBI Gene)
GLCNAC-TIGLCT1GLYT1GNT-1GNT-IGnTIMGAT
Chromosome 5
Chromosome location 5q35.3
Summary There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme e
miRNA miRNA information provided by mirtarbase database.
297
miRTarBase ID miRNA Experiments Reference
MIRT1146790 hsa-let-7a CLIP-seq
MIRT1146791 hsa-let-7b CLIP-seq
MIRT1146792 hsa-let-7c CLIP-seq
MIRT1146793 hsa-let-7d CLIP-seq
MIRT1146794 hsa-let-7e CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 20378551
GO:0000139 Component Golgi membrane IEA
GO:0001701 Process In utero embryonic development IEA
GO:0003827 Function Alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity IBA
GO:0003827 Function Alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity IDA 1702225
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
160995 7044 ENSG00000131446
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26572
Protein name Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (EC 2.4.1.101) (N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I) (GNT-I) (GlcNAc-T I)
Protein function Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03071 GNT-I 12 444 GNT-I family Family
Sequence
Sequence length 445
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
  N-glycan trimming and elongation in the cis-Golgi
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations