Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79053
Gene name Gene Name - the full gene name approved by the HGNC.	ALG8 alpha-1,3-glucosyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALG8
Synonyms (NCBI Gene) Gene synonyms aliases	CDG1H, PCLD3
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q14.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene h

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908293	T>A,C,G	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs121908294	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs139832787	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice donor variant
rs146603801	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs200888240	G>A,C	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs202112771	C>A	Pathogenic	Splice donor variant
rs376161880	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs387906277	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs753631154	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs762811727	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs794727931	A>C	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs867450807	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, non coding transcript variant, coding sequence variant, intron variant
rs1470636347	T>C,G	Pathogenic	Intron variant
rs1555073109	T>C	Pathogenic	Splice acceptor variant

Show/Hide all(29)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027758	hsa-miR-98-5p	Microarray	19088304
MIRT482094	hsa-miR-665	PAR-CLIP	23592263
MIRT482092	hsa-miR-4459	PAR-CLIP	23592263
MIRT482093	hsa-miR-5681a	PAR-CLIP	23592263
MIRT482091	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT482090	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT482089	hsa-miR-3689d	PAR-CLIP	23592263
MIRT482088	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT482087	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT443236	hsa-miR-1972	PAR-CLIP	22100165
MIRT443234	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT443235	hsa-miR-874-5p	PAR-CLIP	22100165
MIRT443233	hsa-miR-520a-5p	PAR-CLIP	22100165
MIRT443232	hsa-miR-525-5p	PAR-CLIP	22100165
MIRT443231	hsa-miR-3180-5p	PAR-CLIP	22100165
MIRT482094	hsa-miR-665	PAR-CLIP	23592263
MIRT482092	hsa-miR-4459	PAR-CLIP	23592263
MIRT482093	hsa-miR-5681a	PAR-CLIP	23592263
MIRT482091	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT482090	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT482089	hsa-miR-3689d	PAR-CLIP	23592263
MIRT482088	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT482087	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT443236	hsa-miR-1972	PAR-CLIP	22100165
MIRT443234	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT443235	hsa-miR-874-5p	PAR-CLIP	22100165
MIRT443233	hsa-miR-520a-5p	PAR-CLIP	22100165
MIRT443232	hsa-miR-525-5p	PAR-CLIP	22100165
MIRT443231	hsa-miR-3180-5p	PAR-CLIP	22100165

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004583	Function	Dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	25910212, 32296183, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IGI	15235028
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IMP	12480927, 15235028
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IBA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IMP	12480927, 15235028
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	ISS
GO:0042283	Function	Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IBA
GO:0042283	Function	Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IEA
GO:0042283	Function	Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IMP	12480927, 15235028
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IC	15235028

MIM	HGNC	e!Ensembl
608103	23161	ENSG00000159063

Protein

UniProt ID

Q9BVK2

Protein name

Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC 2.4.1.265) (Asparagine-linked glycosylation protein 8 homolog) (Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase) (Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl

Protein function

Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03155	Alg6_Alg8	21 → 510	ALG6, ALG8 glycosyltransferase family	Family

Sequence

MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWLAITHSLPISQWYYEAT
SEWTLDYPPFFAWFEYILSHVAKYFDQEMLNVHNLNYSSSRTLLFQRFSVIFMDVLFVYA
VRECCKCIDGKKVGKELTEKPKFILSVLLLWNFGLLIVDHIHFQYNGFLFGLMLLSIARL
FQKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGSIRWKSFSFVRVIS
LGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGLCHAYWAPNFWALYNALDKVLSVIG
LKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPR
GFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPL
LFTAPELPIKILLMLLFTIYSISSLKTLFRKEKPLFNWMETFYLLGLGPLEVCCEFVFPF
TSWKVKYPFIPLLLTSVYCAVGITYAWFKLYVSVLIDSAIGKTKKQ

Sequence length

526

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Metabolic pathways		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective ALG8 causes ALG8-CDG (CDG-1h)

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Polycystic liver disease	polycystic liver disease 3 with or without kidney cysts	rs376161880, rs762811727	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
congenital disorder of glycosylation	Congenital disorder of glycosylation	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Autism Spectrum Disorder	Associate	35716054
Congenital Disorders of Glycosylation	Associate	35211808, 38323760
Cysts	Associate	37628703
Depressive Disorder	Associate	22348086
Diabetes Mellitus Type 2	Associate	22348086
Genetic Diseases Inborn	Associate	22348086
Intellectual Disability	Associate	35716054
Kidney Diseases Cystic	Associate	36573973, 37628703
Ovarian Neoplasms	Associate	35281472
Polycystic Kidney Autosomal Dominant	Associate	30135240
Polycystic liver disease	Associate	30135240, 37628703

ALG8 (ALG8 alpha-1,3-glucosyltransferase)