ALG11 (ALG11 alpha-1,2-mannosyltransferase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
440138
Gene name Gene Name - the full gene name approved by the HGNC.
ALG11 alpha-1,2-mannosyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALG11
Synonyms (NCBI Gene) Gene synonyms aliases
CDG1P, GT8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG1P
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Ma
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs267606652 T>C Pathogenic Coding sequence variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT2473099 hsa-miR-4452 CLIP-seq
MIRT2473100 hsa-miR-4699-3p CLIP-seq
MIRT2473101 hsa-miR-493 CLIP-seq
MIRT2473099 hsa-miR-4452 CLIP-seq
MIRT2473100 hsa-miR-4699-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0004377 Function GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0006487 Process Protein N-linked glycosylation IBA 21873635
GO:0006490 Process Oligosaccharide-lipid intermediate biosynthetic process IBA 21873635
GO:0016020 Component Membrane HDA 19946888
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613666 32456 ENSG00000253710
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q2TAA5
Protein name GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (EC 2.4.1.131) (Asparagine-linked glycosylation protein 11 homolog) (Glycolipid 2-alpha-mannosyltransferase)
Protein function GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked o
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15924 ALG11_N 62 → 269 ALG11 mannosyltransferase N-terminus Family
PF00534 Glycos_transf_1 293 → 470 Glycosyl transferases group 1 Family
Sequence
Sequence length 492
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways 		  Defective ALG11 causes ALG11-CDG (CDG-1p)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Congenital disorder of glycosylation CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip, ALG11-CDG rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)		 22213132, 27604308, 20080937
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining
Disease Name Relationship Type References
Chordoma Associate 24503940
Congenital Disorders of Glycosylation Associate 30676690, 30770273, 34440401
Epilepsy Associate 30676690
Fetal Diseases Associate 30770273
Glycogen Storage Disease XIV Associate 30676690, 38256263
Microcephaly Associate 30770273
Psychomotor Disorders Associate 30676690