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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
885
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV001785910
RCV002003140
RCV001975951
RCV001943704
RCV001932769
RCV001942071
RCV002043034
RCV001956219
RCV001953548
RCV001935796
RCV002048248
RCV002240119
RCV002472317
RCV003096298
RCV002500456
RCV002478562
RCV002615503
RCV000004989
RCV000004990
RCV000004991
RCV002819043
RCV003012362
RCV003029413
RCV003041562
RCV003024419
RCV003048607
RCV000209837
RCV003611630
RCV003502872
RCV003502926
RCV003502927
RCV003503629
RCV003504177
RCV003502019
RCV003502395
RCV003502981
RCV003503192
RCV003504065
RCV003504072
RCV003611752
RCV003611834
RCV003612642
RCV003612575
RCV003612867
RCV003612724
RCV003612777
RCV003613170
RCV003613187
RCV003613267
RCV003613406
RCV003613530
RCV003611387
RCV003612011
RCV003612445
RCV003846134
RCV003861437
RCV003856516
RCV003876339
RCV003879499
RCV003880849
RCV003878416
RCV000808344
RCV000023495
RCV000023496
RCV000691959
RCV000801713
RCV001796133
RCV000625978
RCV000625977
RCV000704546
RCV000809396
RCV001858479
RCV003502554
RCV001869290
RCV001858478
RCV001377315
RCV002538359
RCV001809863
RCV001858477
RCV001858481
RCV002497493
RCV001310078
ALG1-related disorder Likely pathogenic; Pathogenic rs776990436, rs369160589 RCV003394252
RCV003417756
ALG12-congenital disorder of glycosylation Likely pathogenic; Pathogenic rs28939378 RCV003483423
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
RCV000851246
RCV000851250
RCV000851248
RCV000851227
RCV000851226
RCV000851231
RCV000851238
RCV000851236
RCV000851225
RCV000851222
RCV000851234
RCV000851240
RCV000851237
RCV000851224
RCV000851251
RCV000851223
RCV000851239
RCV000851241
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs8047337 RCV005916644
Cervical cancer Benign; Likely benign rs113602091 RCV005896523
Cholangiocarcinoma Benign rs8047337 RCV005916647
Familial cancer of breast Benign rs8055768 RCV005919909
Associations from Text MiningDisease associations identified through Pubtator
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