Human Gene ALG2 (ENST00000476832.2) from GENCODE V44
Description: Homo sapiens ALG2 alpha-1,3/1,6-mannosyltransferase (ALG2), transcript variant 1, mRNA. (from RefSeq NM_033087) RefSeq Summary (NM_033087): This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]. Gencode Transcript: ENST00000476832.2 Gencode Gene: ENSG00000119523.10 Transcript (Including UTRs) Position: hg38 chr9:99,216,425-99,221,942 Size: 5,518 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr9:99,217,934-99,221,894 Size: 3,961 Coding Exon Count: 2
ID:ALG2_HUMAN DESCRIPTION: RecName: Full=Alpha-1,3/1,6-mannosyltransferase ALG2; EC=2.4.1.132; EC=2.4.1.257; AltName: Full=Asparagine-linked glycosylation protein 2 homolog; AltName: Full=GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; AltName: Full=GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase; AltName: Full=GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; FUNCTION: Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)- dolichol diphosphate. CATALYTIC ACTIVITY: GDP-D-mannose + D-Man-beta-(1->4)-D-GlcNAc- beta-(1->4)-D-GlcNAc-diphosphodolichol = GDP + D-Man-alpha-(1->3)- D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-GlcNAc-diphosphodolichol. CATALYTIC ACTIVITY: GDP-D-mannose + D-Man-alpha-(1->3)-D-Man-beta- (1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = GDP + D- Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc- beta-(1->4)-D-GlcNAc-diphosphodolichol. PATHWAY: Protein modification; protein glycosylation. SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential). DISEASE: Defects in ALG2 are the cause of congenital disorder of glycosylation type 1I (CDG1I) [MIM:607906]. CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. SIMILARITY: Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG2"; WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
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.
Pfam Domains: PF00534 - Glycosyl transferases group 1
ModBase Predicted Comparative 3D Structure on Q9H553
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000033 alpha-1,3-mannosyltransferase activity GO:0004378 GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity GO:0005515 protein binding GO:0016740 transferase activity GO:0016757 transferase activity, transferring glycosyl groups GO:0046982 protein heterodimerization activity GO:0047485 protein N-terminus binding GO:0048306 calcium-dependent protein binding GO:0102704 GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity
Biological Process: GO:0006486 protein glycosylation GO:0006488 dolichol-linked oligosaccharide biosynthetic process GO:0033577 protein glycosylation in endoplasmic reticulum GO:0051592 response to calcium ion GO:0097502 mannosylation
Protein Q9H553 (Reactome details) participates in the following event(s):
R-HSA-446208 Addition of a second mannose to the N-glycan precursor by ALG2 R-HSA-449718 Addition of a third mannose to the N-glycan precursor by ALG2 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