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
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:
Phospholipids Ayse Demirkan et al. PLoS genetics 2012, Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations., PLoS genetics.
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.
ModBase Predicted Comparative 3D Structure on Q96F25
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.
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