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 essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of ... See more...

Aliases for MGAT1 Gene

Aliases for MGAT1 Gene

  • Mannosyl (Alpha-1,3-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase 2 3 5
  • Alpha-1,3-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase 2 3 4
  • N-Glycosyl-Oligosaccharide-Glycoprotein N-Acetylglucosaminyltransferase I 3 4
  • EC 2.4.1.101 4 54
  • GlcNAc-T I 3 4
  • GLYT1 3 4
  • GLCT1 3 4
  • GNT-I 3 4
  • MGAT 3 4
  • GLCNAC-TI 3
  • GNT-1 3
  • GGNT1 4
  • GnTI 3

External Ids for MGAT1 Gene

Previous HGNC Symbols for MGAT1 Gene

  • MGAT
  • GLYT1

Previous GeneCards Identifiers for MGAT1 Gene

  • GC05M180347
  • GC05M181203
  • GC05M180281
  • GC05M180327
  • GC05M180150
  • GC05M180218
  • GC05M174942

Summaries for MGAT1 Gene

Entrez Gene Summary for MGAT1 Gene

  • 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 essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MGAT1 Gene

MGAT1 (Mannosyl (Alpha-1,3-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase) is a Protein Coding gene. Diseases associated with MGAT1 include Lysosomal And Lipase Deficiency and Lysosomal Acid Lipase Deficiency. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. Gene Ontology (GO) annotations related to this gene include acetylglucosaminyltransferase activity and alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. An important paralog of this gene is POMGNT1.

UniProtKB/Swiss-Prot Summary for MGAT1 Gene

  • Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans.

Gene Wiki entry for MGAT1 Gene

Additional gene information for MGAT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MGAT1 Gene

Genomics for MGAT1 Gene

GeneHancer (GH) Regulatory Elements for MGAT1 Gene

Promoters and enhancers for MGAT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J180798 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 784.4 +6.6 6581 21.1 E2F8 SP1 ZBTB40 CTCF RBPJ SMARCE1 POLR2A USF2 NR2F1 NR2F6 MGAT1 ENSG00000280161 lnc-BTNL8-6 ENSG00000233937 CNOT6 ENSG00000245317 MRNIP TRIM52 ZFP62 RN7SKP150
GH05J181202 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 36.9 -390.1 -390058 5.6 GTF3C2 SIN3A ZNF24 ZBTB40 ZBTB6 RBPJ SMARCE1 POLR2A USF2 NR2F6 TRIM7 ENSG00000248514 TRA-TGC3-1 lnc-RACK1-3 piR-36225-003 piR-49039-002 ENSG00000233937 TRIM52 ZFP62 CNOT6
GH05J181221 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 34.4 -407.5 -407461 4.6 GTF3C2 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 RBPJ MIR4638 TRIM41 TRK-CTT2-3 TRV-CAC1-5 piR-39017-005 piR-33161-005 piR-33164-014 piR-39608 piR-40458 ENSG00000233937
GH05J181240 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 32.5 -429.5 -429547 9 ZNF785 SIN3A SP1 ZBTB40 SREBF1 SIX5 POLR2A TCF7L2 ATF1 HCFC1 RACK1 ENSG00000233937 CTC-338M12.4 SNORD95 lnc-TRIM52-1 TRIM52-AS1 MGAT1 TRIM52 ZFP62 SNORD96A
GH05J179857 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 30 +956.6 956629 3.2 ZBTB40 FOXA1 MLX RBPJ POLR2A CTBP1 HCFC1 ZNF133 MYC L3MBTL2 MRNIP ENSG00000245317 LOC100996419 MAML1 HNRNPH1 RUFY1 ZNF354B CNOT6 MGAT1 ZNF879
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MGAT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MGAT1 gene promoter:
  • AREB6
  • HFH-1
  • Sp1

Genomic Locations for MGAT1 Gene

Genomic Locations for MGAT1 Gene
chr5:180,784,782-180,815,652
(GRCh38/hg38)
Size:
30,871 bases
Orientation:
Minus strand
chr5:180,217,541-180,242,652
(GRCh37/hg19)
Size:
25,112 bases
Orientation:
Minus strand

Genomic View for MGAT1 Gene

Genes around MGAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MGAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MGAT1 Gene

Proteins for MGAT1 Gene

  • Protein details for MGAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26572-MGAT1_HUMAN
    Recommended name:
    Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
    Protein Accession:
    P26572
    Secondary Accessions:
    • A8K404
    • B3KRU8
    • D3DWR1
    • Q6IBE3

    Protein attributes for MGAT1 Gene

    Size:
    445 amino acids
    Molecular mass:
    50878 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with MGAT4D.

neXtProt entry for MGAT1 Gene

Selected DME Specific Peptides for MGAT1 Gene

P26572:
  • DFFPGLGW
  • FWDDWMR
  • YYKIARHY
  • ELEPKWP
  • IPILVIACDRSTVRRCLDKLLHYRPSAE

Post-translational modifications for MGAT1 Gene

  • Glycosylation at Thr88 and Ser320
  • Modification sites at PhosphoSitePlus

Domains & Families for MGAT1 Gene

Gene Families for MGAT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MGAT1 Gene

Suggested Antigen Peptide Sequences for MGAT1 Gene

GenScript: Design optimal peptide antigens:
  • N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I (MGAT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26572

UniProtKB/Swiss-Prot:

MGAT1_HUMAN :
  • Belongs to the glycosyltransferase 13 family.
Family:
  • Belongs to the glycosyltransferase 13 family.
genes like me logo Genes that share domains with MGAT1: view

Function for MGAT1 Gene

Molecular function for MGAT1 Gene

UniProtKB/Swiss-Prot Function:
Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (isomer 5A1,2) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP; Xref=Rhea:RHEA:11456, Rhea:RHEA-COMP:14367, Rhea:RHEA-COMP:14368, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:59087, ChEBI:CHEBI:60625; EC=2.4.1.101; Evidence=. ;.
GENATLAS Biochemistry:
mannosyl (alpha-1,3-) glycoprotein beta-1,2-N-acetyl-glucosaminyltransferase,Golgi,biosynthesis of complex Asn-linked (N) glycans

Enzyme Numbers (IUBMB) for MGAT1 Gene

Phenotypes From GWAS Catalog for MGAT1 Gene

Gene Ontology (GO) - Molecular Function for MGAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003827 alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity TAS --
GO:0008375 acetylglucosaminyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030145 manganese ion binding IDA 1702225
genes like me logo Genes that share ontologies with MGAT1: view
genes like me logo Genes that share phenotypes with MGAT1: view

Animal Models for MGAT1 Gene

MGI Knock Outs for MGAT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MGAT1

Clone Products

  • Addgene plasmids for MGAT1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MGAT1 Gene

Localization for MGAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGAT1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MGAT1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
cytoskeleton 0
mitochondrion 0
lysosome 0

Gene Ontology (GO) - Cellular Components for MGAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with MGAT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MGAT1 Gene

Pathways & Interactions for MGAT1 Gene

genes like me logo Genes that share pathways with MGAT1: view

UniProtKB/Swiss-Prot P26572-MGAT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for MGAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006049 UDP-N-acetylglucosamine catabolic process IEA --
GO:0006486 protein glycosylation IBA 21873635
GO:0006487 protein N-linked glycosylation IBA 21873635
GO:0018279 protein N-linked glycosylation via asparagine IDA 1702225
genes like me logo Genes that share ontologies with MGAT1: view

No data available for SIGNOR curated interactions for MGAT1 Gene

Drugs & Compounds for MGAT1 Gene

(8) Drugs for MGAT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-Diphosphate-N-Acetylglucosamine Experimental Pharma Target 0
Uridine 5'-diphosphate Experimental Pharma 0

(8) Additional Compounds for MGAT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with MGAT1: view

Transcripts for MGAT1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MGAT1

Clone Products

  • Addgene plasmids for MGAT1

Alternative Splicing Database (ASD) splice patterns (SP) for MGAT1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ·
SP1: - - - - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - - - -
SP10:
SP11:
SP12:
SP13: - - - - -
SP14: - - - -
SP15: - - -
SP16: - -
SP17:
SP18:
SP19:
SP20:
SP21: - - - - - - - - - - - - - - - - - - - - -
SP22: - - - - - - - - - - - - - - - - - - - - - -
SP23: - - - - - - - - - - - - - - - - - - - - - -
SP24: - - - - - - - - -
SP25: - - - - - - - - -
SP26:

ExUns: 13c ^ 14a · 14b · 14c · 14d · 14e ^ 15 ^ 16a · 16b · 16c · 16d · 16e · 16f · 16g · 16h · 16i · 16j · 16k · 16l · 16m · 16n · 16o ^ 17 ^ 18
SP1: - - - - - - -
SP2: - - - - - - -
SP3: -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - -
SP9: - - - - - - -
SP10: - - - -
SP11: - - - - -
SP12: - - - - -
SP13: - - - - - - -
SP14: - - - - - - -
SP15: - - - - - - -
SP16: - - - - - - -
SP17: - - - - - -
SP18: - - - - - -
SP19:
SP20:
SP21: - - - - - - -
SP22: -
SP23: - - - - - - -
SP24:
SP25:
SP26:

Relevant External Links for MGAT1 Gene

GeneLoc Exon Structure for
MGAT1
ECgene alternative splicing isoforms for
MGAT1

Expression for MGAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MGAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MGAT1 Gene

This gene is overexpressed in Whole Blood (x5.0).

Protein differential expression in normal tissues from HIPED for MGAT1 Gene

This gene is overexpressed in Serum (12.8), Peripheral blood mononuclear cells (12.1), Liver (9.2), and Plasma (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MGAT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MGAT1 Gene:

MGAT1

SOURCE GeneReport for Unigene cluster for MGAT1 Gene:

Hs.519818

Evidence on tissue expression from TISSUES for MGAT1 Gene

  • Kidney(4.7)
  • Liver(4.5)
  • Nervous system(4.5)
  • Skin(4.1)
  • Lung(3.6)
  • Spleen(3)
  • Blood(2.8)
  • Intestine(2.7)
  • Eye(2.4)
genes like me logo Genes that share expression patterns with MGAT1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MGAT1 Gene

Orthologs for MGAT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MGAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MGAT1 33 32
  • 99.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MGAT1 33 32
  • 88.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MGAT1 33 32
  • 87.79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mgat1 32
  • 85.54 (n)
mouse
(Mus musculus)
Mammalia Mgat1 17 33 32
  • 84.64 (n)
oppossum
(Monodelphis domestica)
Mammalia MGAT1 33
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MGAT1 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mgat1 32
  • 60.81 (n)
Str.5502 32
African clawed frog
(Xenopus laevis)
Amphibia MGC52514 32
zebrafish
(Danio rerio)
Actinopterygii mgat1b 33 32
  • 65.32 (n)
OneToMany
mgat1a 33
  • 52 (a)
OneToMany
zgc66030 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3816 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005347 32
  • 62.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mgat1 33 32
  • 59.5 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gly-14 33 32
  • 48.34 (n)
OneToMany
gly-13 33
  • 36 (a)
OneToMany
gly-12 34
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons CGL1 32
  • 47.46 (n)
rice
(Oryza sativa)
Liliopsida Os02g0832800 32
  • 48.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8479 33
  • 39 (a)
OneToOne
Cin.1484 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1484 32
Species where no ortholog for MGAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MGAT1 Gene

ENSEMBL:
Gene Tree for MGAT1 (if available)
TreeFam:
Gene Tree for MGAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MGAT1: view image

Paralogs for MGAT1 Gene

Paralogs for MGAT1 Gene

genes like me logo Genes that share paralogs with MGAT1: view

Variants for MGAT1 Gene

Sequence variations from dbSNP and Humsavar for MGAT1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000010198 -- 180,788,111(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000025361 -- 180,813,524(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000186146 -- 180,802,370(-) C/T intron_variant
rs1000218119 -- 180,806,143(-) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000249367 -- 180,806,409(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MGAT1 Gene

Variant ID Type Subtype PubMed ID
dgv5849n100 CNV gain 25217958
dgv9n29 CNV loss 16826518
esv2759399 CNV gain 17122850
esv3607791 CNV gain 21293372
esv3607793 CNV gain 21293372
esv3607794 CNV gain 21293372
nsv1026417 CNV gain 25217958
nsv1161322 CNV duplication 26073780
nsv428133 CNV gain 18775914
nsv462587 CNV gain 19166990
nsv600678 CNV gain 21841781

Variation tolerance for MGAT1 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MGAT1 Gene

Human Gene Mutation Database (HGMD)
MGAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MGAT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MGAT1 Gene

Disorders for MGAT1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MGAT1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lysosomal and lipase deficiency
lysosomal acid lipase deficiency
  • cholesteryl ester storage disease; cesd
plague
  • yersiniosis
muscle eye brain disease
  • meb
- elite association - COSMIC cancer census association via MalaCards
Search MGAT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MGAT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MGAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MGAT1 Gene

Publications for MGAT1 Gene

  1. Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene. (PMID: 19851299) Johansson A … EUROSPAN Consortium (Obesity (Silver Spring, Md.) 2010) 3 23 43 56
  2. Organization and localization to chromosome 5 of the human UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I gene. (PMID: 1827260) Hull E … Schachter H (Biochemical and biophysical research communications 1991) 2 3 4 56
  3. Golgi N-glycosyltransferases form both homo- and heterodimeric enzyme complexes in live cells. (PMID: 20378551) Hassinen A … Kellokumpu S (The Journal of biological chemistry 2010) 3 4 56
  4. Role of complex carbohydrates in human immunodeficiency virus type 1 infection and resistance to antibody neutralization. (PMID: 20335257) Binley JM … Sanders RW (Journal of virology 2010) 3 23 56
  5. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe JK … Friedman JM (PLoS genetics 2009) 3 43 56

Products for MGAT1 Gene