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Aliases for MGAT5B Gene

Aliases for MGAT5B Gene

  • Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,6-N-Acetyl-Glucosaminyltransferase, Isozyme B 2 3 5
  • Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,6-N-Acetyl-Glucosaminyltransferase, Isoenzyme B 2 3
  • Alpha-Mannoside Beta-1,6-N-Acetylglucosaminyltransferase B 3 4
  • Mannoside Acetylglucosaminyltransferase 5B 3 4
  • N-Acetylglucosaminyl-Transferase Vb 3 4
  • N-Acetylglucosaminyltransferase IX 3 4
  • GlcNAc-T Vb 3 4
  • GnT-IX 3 4
  • GnT-VB 3 4
  • HGnTVb 3 4
  • Alpha-1,6-Mannosylglycoprotein 6-Beta-N-Acetylglucosaminyltransferase B 3
  • Beta(1,6)-N-Acetylglucosaminyltransferase V 3
  • EC 2.4.1.155 4
  • EC 2.4.1.- 4
  • KIAA2008 4

External Ids for MGAT5B Gene

Previous GeneCards Identifiers for MGAT5B Gene

  • GC17P075461
  • GC17P072376
  • GC17P074864
  • GC17P070291

Summaries for MGAT5B Gene

Entrez Gene Summary for MGAT5B Gene

  • The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]

GeneCards Summary for MGAT5B Gene

MGAT5B (Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,6-N-Acetyl-Glucosaminyltransferase, Isozyme B) is a Protein Coding gene. Diseases associated with MGAT5B include Walker-Warburg Syndrome. Among its related pathways are Mannose type O-glycan biosynthesis and Metabolism. GO annotations related to this gene include alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity. An important paralog of this gene is MGAT5.

UniProtKB/Swiss-Prot for MGAT5B Gene

  • Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAcbeta1,2-Manalpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAcbeta1,2-Manalpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway.

Gene Wiki entry for MGAT5B Gene

Additional gene information for MGAT5B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MGAT5B Gene

Genomics for MGAT5B Gene

Regulatory Elements for MGAT5B Gene


Enhancers around MGAT5B on UCSC Golden Path with GeneCards custom track

Genomic Location for MGAT5B Gene

Chromosome:
17
Start:
76,850,503 bp from pter
End:
76,950,393 bp from pter
Size:
99,891 bases
Orientation:
Plus strand

Genomic View for MGAT5B Gene

Genes around MGAT5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MGAT5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MGAT5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MGAT5B Gene

Proteins for MGAT5B Gene

  • Protein details for MGAT5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3V5L5-MGT5B_HUMAN
    Recommended name:
    Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
    Protein Accession:
    Q3V5L5
    Secondary Accessions:
    • Q6P3S8
    • Q6P6B3
    • Q766X5
    • Q76D04
    • Q96LS2

    Protein attributes for MGAT5B Gene

    Size:
    792 amino acids
    Molecular mass:
    89535 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH62354.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAH63862.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAB71598.1; Type=Miscellaneous discrepancy; Note=Chimeric sequence.; Evidence={ECO:0000305}; Sequence=BAD02406.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAE44474.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MGAT5B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MGAT5B Gene

Post-translational modifications for MGAT5B Gene

  • Glycosylation at Asn127
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MGAT5B Gene

Domains & Families for MGAT5B Gene

Gene Families for MGAT5B Gene

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

Protein Domains for MGAT5B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MGAT5B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3V5L5

UniProtKB/Swiss-Prot:

MGT5B_HUMAN :
  • Belongs to the glycosyltransferase 18 family.
Family:
  • Belongs to the glycosyltransferase 18 family.
genes like me logo Genes that share domains with MGAT5B: view

Function for MGAT5B Gene

Molecular function for MGAT5B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + 6-(2-(N-acetyl-beta-D-glucosaminyl)-alpha-D-mannosyl)-beta-D-mannosyl-R = UDP + 6-(2,6-bis(N-acetyl-beta-D-glucosaminyl)-alpha-D-mannosyl)-beta-D-mannosyl-R.
UniProtKB/Swiss-Prot Function:
Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAcbeta1,2-Manalpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAcbeta1,2-Manalpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway.

Enzyme Numbers (IUBMB) for MGAT5B Gene

Phenotypes From GWAS Catalog for MGAT5B Gene

Gene Ontology (GO) - Molecular Function for MGAT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23088713
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030144 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity IEA,IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MGAT5B: view
genes like me logo Genes that share phenotypes with MGAT5B: view

Animal Models for MGAT5B Gene

MGI Knock Outs for MGAT5B:

Animal Model Products

  • Taconic Biosciences Mouse Models for MGAT5B

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MGAT5B Gene

Localization for MGAT5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MGAT5B 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 MGAT5B gene
Compartment Confidence
golgi apparatus 5
extracellular 2
mitochondrion 2
plasma membrane 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitotic spindle (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MGAT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MGAT5B: view

Pathways & Interactions for MGAT5B Gene

genes like me logo Genes that share pathways with MGAT5B: view

Pathways by source for MGAT5B Gene

UniProtKB/Swiss-Prot Q3V5L5-MGT5B_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for MGAT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IEA,IBA --
genes like me logo Genes that share ontologies with MGAT5B: view

No data available for SIGNOR curated interactions for MGAT5B Gene

Drugs & Compounds for MGAT5B Gene

(2) Drugs for MGAT5B Gene - From: HMDB and Novoseek

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

(1) Additional Compounds for MGAT5B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with MGAT5B: view

Transcripts for MGAT5B Gene

Unigene Clusters for MGAT5B Gene

Mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MGAT5B Gene

No ASD Table

Relevant External Links for MGAT5B Gene

GeneLoc Exon Structure for
MGAT5B
ECgene alternative splicing isoforms for
MGAT5B

Expression for MGAT5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MGAT5B Gene

mRNA differential expression in normal tissues according to GTEx for MGAT5B Gene

This gene is overexpressed in Brain - Cortex (x10.9), Brain - Frontal Cortex (BA9) (x8.5), Brain - Anterior cingulate cortex (BA24) (x5.8), Brain - Putamen (basal ganglia) (x5.5), Brain - Amygdala (x4.2), and Brain - Caudate (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for MGAT5B Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MGAT5B Gene



Protein tissue co-expression partners for MGAT5B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MGAT5B Gene:

MGAT5B

SOURCE GeneReport for Unigene cluster for MGAT5B Gene:

Hs.144531

mRNA Expression by UniProt/SwissProt for MGAT5B Gene:

Q3V5L5-MGT5B_HUMAN
Tissue specificity: Predominantly expressed in brain. Expressed in all area of the adult and fetal brain Also expressed at much lower level in testis, spleen and thymus.

Evidence on tissue expression from TISSUES for MGAT5B Gene

  • Nervous system(4.5)
  • Skin(4)
genes like me logo Genes that share expression patterns with MGAT5B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MGAT5B Gene

Orthologs for MGAT5B Gene

This gene was present in the common ancestor of animals.

Orthologs for MGAT5B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MGAT5B 33 34
  • 96.37 (n)
dog
(Canis familiaris)
Mammalia MGAT5B 33 34
  • 91.46 (n)
cow
(Bos Taurus)
Mammalia MGAT5B 33 34
  • 91.11 (n)
mouse
(Mus musculus)
Mammalia Mgat5b 33 16 34
  • 87.67 (n)
rat
(Rattus norvegicus)
Mammalia Mgat5b 33
  • 86.96 (n)
oppossum
(Monodelphis domestica)
Mammalia MGAT5B 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MGAT5B 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MGAT5B 33 34
  • 79.41 (n)
lizard
(Anolis carolinensis)
Reptilia MGAT5B 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mgat5b 33
  • 70.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12314 33
zebrafish
(Danio rerio)
Actinopterygii LOC101884072 33
  • 71.41 (n)
MGAT5B 34
  • 70 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gly-2 34
  • 33 (a)
OneToMany
Species where no ortholog for MGAT5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MGAT5B Gene

ENSEMBL:
Gene Tree for MGAT5B (if available)
TreeFam:
Gene Tree for MGAT5B (if available)

Paralogs for MGAT5B Gene

Paralogs for MGAT5B Gene

(1) SIMAP similar genes for MGAT5B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MGAT5B: view

Variants for MGAT5B Gene

Sequence variations from dbSNP and Humsavar for MGAT5B Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000026895 -- 76,900,149(+) TAGGG(A/G)TCTGA intron-variant
rs1000078676 -- 76,900,392(+) TTGGA(C/T)ATAAG intron-variant
rs1000173292 -- 76,924,424(+) GGCAG(A/G)TGAAG intron-variant
rs1000179786 -- 76,944,739(+) CTTCC(A/C)TGGGA intron-variant, utr-variant-3-prime
rs1000179965 -- 76,912,024(+) AGCTA(A/C)ATCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MGAT5B Gene

Variant ID Type Subtype PubMed ID
esv2546238 CNV insertion 19546169
nsv1059991 CNV loss 25217958
nsv1071404 CNV deletion 25765185
nsv1123146 CNV deletion 24896259
nsv457912 CNV loss 19166990
nsv510443 OTHER sequence alteration 20534489
nsv521914 CNV loss 19592680
nsv524066 CNV loss 19592680
nsv576068 CNV loss 21841781
nsv576069 CNV loss 21841781
nsv576070 CNV loss 21841781
nsv833550 CNV loss 17160897

Variation tolerance for MGAT5B Gene

Residual Variation Intolerance Score: 13.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.98; 87.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MGAT5B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MGAT5B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MGAT5B Gene

Disorders for MGAT5B Gene

MalaCards: The human disease database

(1) MalaCards diseases for MGAT5B Gene - From: DISEASES

Disorder Aliases PubMed IDs
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MGAT5B

Genetic Association Database (GAD)
MGAT5B
Human Genome Epidemiology (HuGE) Navigator
MGAT5B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MGAT5B
genes like me logo Genes that share disorders with MGAT5B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MGAT5B Gene

Publications for MGAT5B Gene

  1. N-Acetylglucosaminyltransferase IX acts on the GlcNAc beta 1,2-Man alpha 1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. (PMID: 14617637) Inamori K … Taniguchi N (The Journal of biological chemistry 2004) 2 3 4 22 60
  2. A novel beta(1,6)-N-acetylglucosaminyltransferase V (GnT-VB)(1). (PMID: 14623122) Kaneko M … Pierce M (FEBS letters 2003) 2 3 4 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  5. Comparison of the substrate specificities and catalytic properties of the sister N-acetylglucosaminyltransferases, GnT-V and GnT-Vb (IX). (PMID: 19846580) Alvarez-Manilla G … Pierce M (Glycobiology 2010) 3 22 60

Products for MGAT5B Gene

Sources for MGAT5B Gene

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