Human Gene ALG6 (uc021oof.1)
  Description: Homo sapiens ALG6, alpha-1,3-glucosyltransferase (ALG6), mRNA.
RefSeq Summary (NM_013339): This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr1:63,833,261-63,904,233 Size: 70,973 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr1:63,836,649-63,902,691 Size: 66,043 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:63,833,261-63,904,233)mRNA (may differ from genome)Protein (507 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ALG6_HUMAN
DESCRIPTION: RecName: Full=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; EC=2.4.1.267; AltName: Full=Asparagine-linked glycosylation protein 6 homolog; AltName: Full=Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase; AltName: Full=Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase;
FUNCTION: Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.
CATALYTIC ACTIVITY: Dolichyl beta-D-glucosyl phosphate + D-Man- alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha- (1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))- D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D- GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)- D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man- alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha- (1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc- diphosphodolichol + dolichyl phosphate.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential).
DISEASE: Defects in ALG6 are the cause of congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]; also known as carbohydrate-deficient glycoprotein syndrome type V. CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1C patients have muscular hypotonia, show a delayed statomotor development and are mentally retarded. CDG1C is biochemically characterized by an accumulation of dolichyl pyrophosphate-linked Man(9)GlcNAc(2) in the endoplasmic reticulum.
SIMILARITY: Belongs to the ALG6/ALG8 glucosyltransferase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG6";
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ALG6
Diseases sorted by gene-association score: congenital disorder of glycosylation, type ic* (1550), alg6-congenital disorder of glycosylation* (400), congenital disorder of glycosylation, type in (17), protein-losing enteropathy (12), intracranial hypertension, idiopathic (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 3.83 RPKM in Nerve - Tibial
Total median expression: 105.87 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.30305-0.293 Picture PostScript Text
3' UTR -382.901542-0.248 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
IPR004856 - Glyco_trans_ALG6/ALG8

Pfam Domains:
PF03155 - ALG6, ALG8 glycosyltransferase family

ModBase Predicted Comparative 3D Structure on Q9Y672
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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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004583 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0016758 transferase activity, transferring hexosyl groups
GO:0042281 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity
GO:0046527 glucosyltransferase activity

Biological Process:
GO:0006486 protein glycosylation
GO:0006487 protein N-linked glycosylation
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0006490 oligosaccharide-lipid intermediate biosynthetic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  KJ898747 - Synthetic construct Homo sapiens clone ccsbBroadEn_08141 ALG6 gene, encodes complete protein.
KR709509 - Synthetic construct Homo sapiens clone CCSBHm_00002905 ALG6 (ALG6) mRNA, encodes complete protein.
KR709510 - Synthetic construct Homo sapiens clone CCSBHm_00002908 ALG6 (ALG6) mRNA, encodes complete protein.
KR709511 - Synthetic construct Homo sapiens clone CCSBHm_00002911 ALG6 (ALG6) mRNA, encodes complete protein.
LF383882 - JP 2014500723-A/191385: Polycomb-Associated Non-Coding RNAs.
AF063604 - Homo sapiens brain my046 protein mRNA, complete cds.
AK022700 - Homo sapiens cDNA FLJ12638 fis, clone NT2RM4001930, highly similar to Dolichyl pyrophosphate Man9GlcNAc2alpha-1,3-glucosyltransferase (EC 2.4.1.-).
BC001253 - Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae), mRNA (cDNA clone MGC:4979 IMAGE:3452687), complete cds.
AF102851 - Homo sapiens dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase (ALG6) mRNA, complete cds.
JD052000 - Sequence 33024 from Patent EP1572962.
AK295286 - Homo sapiens cDNA FLJ57111 complete cds, highly similar to Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC 2.4.1.-).
MA619459 - JP 2018138019-A/191385: Polycomb-Associated Non-Coding RNAs.

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

BioCyc Knowledge Library
MANNOSYL-CHITO-DOLICHOL-BIOSYNTHESIS - dolichyl-diphosphooligosaccharide biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9Y672 (Reactome details) participates in the following event(s):

R-HSA-446202 Addition of the first glucose to the N-glycan precursor by ALG6
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ALG6_HUMAN, B3KMU2, My046, NM_013339, NP_037471, Q5SXR9, Q9H3I0, Q9Y672
UCSC ID: uc021oof.1
RefSeq Accession: NM_013339
Protein: Q9Y672 (aka ALG6_HUMAN)
CCDS: CCDS30735.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ALG6:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_013339.3
exon count: 15CDS single in 3' UTR: no RNA size: 3371
ORF size: 1524CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3212.00frame shift in genome: no % Coverage: 100.00
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: 0# strange splices: 1
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.