Gene Gene information from NCBI Gene database.
Entrez ID 56052
Gene name ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Gene symbol ALG1
Synonyms (NCBI Gene)
CDG1KHMAT1HMT-1HMT1MT-1Mat-1hMat-1
Chromosome 16
Chromosome location 16p13.3
Summary 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.
45
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.
676
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000030 Function Mannosyltransferase activity IBA
GO:0000030 Function Mannosyltransferase activity IEA
GO:0004578 Function Chitobiosyldiphosphodolichol beta-mannosyltransferase activity IDA 14973778
GO:0004578 Function Chitobiosyldiphosphodolichol beta-mannosyltransferase activity IEA
GO:0004578 Function Chitobiosyldiphosphodolichol beta-mannosyltransferase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605907 18294 ENSG00000033011
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ALG1-congenital disorder of glycosylation Likely pathogenic; Pathogenic rs398124348, rs374928784, rs1281948334, rs1957033825, rs2142715856, rs776990436, rs774618681, rs1313166263, rs756236917, rs1956891979, rs1474783444, rs1227251669, rs1386102245, rs1956935335, rs199553558
View all (69 more)
RCV001795148
RCV002505001
RCV005253872
RCV001783407
RCV001783415
View all (82 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALG1-related disorder Likely pathogenic; Pathogenic rs776990436, rs369160589 RCV003394252
RCV003417756
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALG12-congenital disorder of glycosylation Likely pathogenic; Pathogenic rs28939378 RCV003483423
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorder of glycosylation Likely pathogenic; Pathogenic rs398124348, rs374928784, rs752922461, rs794727073, rs28939378, rs369160589, rs151173406, rs746019074, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976
View all (8 more)
RCV000851230
RCV000851244
RCV000851233
RCV000851245
RCV000606536
View all (18 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ALG1-CDG Congenital Disorder Of Glycosylation Orphanet
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 11298796
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31092851, 9694254
★☆☆☆☆
Found in Text Mining only
Carcinoma of larynx Laryngeal carcinoma BEFREE 12616185
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25174824
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29269399
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms BEFREE 1584781
★☆☆☆☆
Found in Text Mining only
Congenital disorder of glycosylation type 1K Congenital disorder of glycosylation BEFREE 14709599, 14973782, 20679665, 24157261
★★☆☆☆
Found in Text Mining + Unknown/Other Associations