Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56052
Gene name Gene Name - the full gene name approved by the HGNC.
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALG1
Synonyms (NCBI Gene) Gene synonyms aliases
CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG1K
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28939378 C>T Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs121908340 C>A,G Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs143676440 C>A Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs151173406 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs192564717 A>G,T Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030572 hsa-miR-24-3p Microarray 19748357
MIRT552064 hsa-miR-548ac HITS-CLIP 23313552
MIRT552063 hsa-miR-548bb-3p HITS-CLIP 23313552
MIRT552062 hsa-miR-548d-3p HITS-CLIP 23313552
MIRT552061 hsa-miR-548h-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000030 Function Mannosyltransferase activity IBA 21873635
GO:0004578 Function Chitobiosyldiphosphodolichol beta-mannosyltransferase activity TAS
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006486 Process Protein glycosylation IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605907 18294 ENSG00000033011
Protein
UniProt ID Q9BT22
Protein name Chitobiosyldiphosphodolichol beta-mannosyltransferase (EC 2.4.1.142) (Asparagine-linked glycosylation protein 1 homolog) (Beta-1,4-mannosyltransferase) (GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase) (GDP-mannose-dolichol diphosphochitobiose mannosyltra
Protein function 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 oligosaccharides begins on the cytosolic s
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00534 Glycos_transf_1 270 444 Glycosyl transferases group 1 Family
Sequence
MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHG
FSVTLLGFCNSKPHDELLQNNRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMW
REPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYGYSIMGLVHGPNHPLVLLAKW
YEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSM
HSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEDEDFSILLAALE
KFEQLTLDGHNLPSLVCVITGKGPLREYYSRLIHQKHFQHIQVCTPWLEAEDYPLLLGSA
DLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAAQL
QMLFSNFPDPAGKLNQFRKNLRES
QQLRWDESWVQTVLPLVMDT
Sequence length 464
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
  Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective ALG1 causes ALG1-CDG (CDG-1k)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Congenital disorder of glycosylation Congenital Disorders of Glycosylation, Congenital disorder of glycosylation type 1K, ALG1-CDG rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
26931382, 25956699, 14973782, 14709599, 27172925, 28554332, 27325525, 14973778, 22966035, 27604308, 26453362, 20679665
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Finnish congenital nephrotic syndrome Finnish congenital nephrotic syndrome rs28939378, rs137853042, rs267606919, rs267606917, rs140511594, rs386833863, rs386833864, rs386833865, rs386833866, rs386833867, rs386833869, rs386833871, rs386833870, rs386833872, rs386833874
View all (147 more)
Associations from Text Mining
Disease Name Relationship Type References
Congenital disorder of glycosylation type 1K Associate 20679665
Congenital Disorder Of Glycosylation Type In Associate 14973778, 20679665
Congenital Disorders of Glycosylation Associate 14709599, 20679665, 26335155, 26805780, 26931382, 27325525
Death Associate 35715422
Edema Associate 27325525
Eye Infections Associate 20679665
Genetic Diseases Inborn Associate 26931382, 38470198
Glycogen Storage Disease XIV Associate 38256263, 38470198
Intellectual Disability Associate 35715422
Lymphoma Non Hodgkin Associate 23992009