Human Gene ALG14 (uc001dra.2) Description and Page Index
  Description: Homo sapiens ALG14, UDP-N-acetylglucosaminyltransferase subunit (ALG14), mRNA.
RefSeq Summary (NM_144988): This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015].
Transcript (Including UTRs)
   Position: hg19 chr1:95,448,279-95,538,507 Size: 90,229 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr1:95,448,632-95,538,454 Size: 89,823 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:95,448,279-95,538,507)mRNA (may differ from genome)Protein (216 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ALG14_HUMAN
DESCRIPTION: RecName: Full=UDP-N-acetylglucosamine transferase subunit ALG14 homolog;
FUNCTION: May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.
SUBUNIT: Heterodimer with ALG13 isoform 2 to form a functional enzyme (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein (Probable).
SIMILARITY: Belongs to the ALG14 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ALG14
CDC HuGE Published Literature: ALG14
Positive Disease Associations: Phospholipids
Related Studies:
  1. Phospholipids
    Ayse Demirkan et al. PLoS genetics 2012, Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations., PLoS genetics. [PubMed 22359512]

-  MalaCards Disease Associations
  MalaCards Gene Search: ALG14
Diseases sorted by gene-association score: myasthenic syndrome, congenital, 15, without tubular aggregates* (1250), congenital myasthenic syndromes with glycosylation defect* (157), alg14-related congenital myasthenic syndrome without tubular aggregates* (100), congenital myasthenic syndrome (10)
* = 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
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.20 RPKM in Adrenal Gland
Total median expression: 40.53 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 -16.1053-0.304 Picture PostScript Text
3' UTR -71.60353-0.203 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
IPR013969 - Oligosacch_biosynth_Alg14

Pfam Domains:
PF08660 - Oligosaccharide biosynthesis protein Alg14 like

SCOP Domains:
53756 - UDP-Glycosyltransferase/glycogen phosphorylase

ModBase Predicted Comparative 3D Structure on Q96F25
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 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:0004577 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity

Biological Process:
GO:0006488 dolichol-linked oligosaccharide biosynthetic process

Cellular Component:
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  AK289395 - Homo sapiens cDNA FLJ75238 complete cds, highly similar to Homo sapiens asparagine-linked glycosylation 14 homolog (yeast) (ALG14), mRNA.
BC011706 - Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae), mRNA (cDNA clone MGC:19780 IMAGE:3689162), complete cds.
JD369464 - Sequence 350488 from Patent EP1572962.
JD020823 - Sequence 1847 from Patent EP1572962.
JD034260 - Sequence 15284 from Patent EP1572962.
KJ900406 - Synthetic construct Homo sapiens clone ccsbBroadEn_09800 ALG14 gene, encodes complete protein.
JD030685 - Sequence 11709 from Patent EP1572962.

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

Reactome (by CSHL, EBI, and GO)

Protein Q96F25 (Reactome details) participates in the following event(s):

R-HSA-446207 ALG13:ALG14 transfers GlcNAc from UDP-GlcNAc to GlcNAcDOLP
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: A8K030, ALG14_HUMAN, NM_144988, NP_659425, Q96F25
UCSC ID: uc001dra.2
RefSeq Accession: NM_144988
Protein: Q96F25 (aka ALG14_HUMAN)
CCDS: CCDS752.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ALG14:
cms (Congenital Myasthenic Syndromes)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_144988.3
exon count: 4CDS single in 3' UTR: no RNA size: 1057
ORF size: 651CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1493.50frame 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: 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.