Human Gene MGAT5B (uc002jtg.4) Description and Page Index
  Description: Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 1, mRNA.
RefSeq Summary (NM_144677): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:74,864,798-74,878,607 Size: 13,810 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr17:74,865,112-74,878,384 Size: 13,273 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:74,864,798-74,878,607)mRNA (may differ from genome)Protein (110 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsGeneNetworkHGNC
LynxMGIPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: H3BR20_HUMAN
DESCRIPTION: SubName: Full=Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MGAT5B
CDC HuGE Published Literature: MGAT5B
Positive Disease Associations: Hemoglobin A, Glycosylated , Lipoproteins, LDL
Related Studies:
  1. Hemoglobin A, Glycosylated
    Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes. [PubMed 19875614]
    A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
  2. Lipoproteins, LDL
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: MGAT5B
Diseases sorted by gene-association score: walker-warburg syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D018817 N-Methyl-3,4-methylenedioxyamphetamine
  • D013749 Tetrachlorodibenzodioxin

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.76 RPKM in Brain - Cortex
Total median expression: 150.83 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -174.30314-0.555 Picture PostScript Text
3' UTR -75.40223-0.338 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026116 - GlyclTrfase_18

ModBase Predicted Comparative 3D Structure on H3BR20
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030144 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity

Biological Process:
GO:0006487 protein N-linked glycosylation

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK057861 - Homo sapiens cDNA FLJ25132 fis, clone CBR06774.
AB235153 - Homo sapiens KIAA2008 mRNA for hypothetical protein.
BC041577 - Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B, mRNA (cDNA clone IMAGE:4636485).
JD379262 - Sequence 360286 from Patent EP1572962.
BC062354 - Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B, mRNA (cDNA clone IMAGE:4643626), complete cds.
JD391953 - Sequence 372977 from Patent EP1572962.
JD461621 - Sequence 442645 from Patent EP1572962.
JD144324 - Sequence 125348 from Patent EP1572962.
JD466423 - Sequence 447447 from Patent EP1572962.
AB109185 - Homo sapiens GnT-IX mRNA for N-Acetylglucosaminyltransferase IX, complete cds.
AB384348 - Synthetic construct DNA, clone: pF1KSDA2008, Homo sapiens MGAT5B gene for alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B, complete cds, without stop codon, in Flexi system.
AB114297 - Homo sapiens hGnTVb mRNA for UDP-N-acetylglucosamine: alpha1,6-D-mannoside beta1,6-N-acetylglucosaminyltransferase b, complete cds.
BC144361 - Homo sapiens cDNA clone IMAGE:9052882, containing frame-shift errors.
BC156823 - Synthetic construct Homo sapiens clone IMAGE:100062526, MGC:190543 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00510 - N-Glycan biosynthesis
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: BC041577, H3BR20, H3BR20_HUMAN
UCSC ID: uc002jtg.4
RefSeq Accession: NM_144677
Protein: H3BR20

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC041577.1
exon count: 3CDS single in 3' UTR: no RNA size: 890
ORF size: 333CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 860.00frame shift in genome: no % Coverage: 97.75
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 227# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.