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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79053
Gene name	ALG8 alpha-1,3-glucosyltransferase
Gene symbol	ALG8
Synonyms (NCBI Gene)	CDG1HPCLD3
Chromosome	11
Chromosome location	11q14.1
Summary	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

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)

365

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALG8 congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs200888240, rs398124391, rs2136915887, rs533704173, rs2136876881, rs1323512637, rs772492143, rs2136899636, rs387906277, rs1555073109, rs121908293, rs1470636347, rs121908294, rs2497145277, rs2497144761 View all (15 more)	RCV001334177 RCV004786359 RCV001374721 RCV005006055 RCV001842227 RCV002489904 RCV001915953 RCV001965056 RCV000002667 RCV000002669 RCV000002670 RCV000002671 RCV000002672 RCV002839540 RCV003053689 RCV003035656 RCV005011112 RCV001535890 RCV005012825 RCV005061378 RCV005003653 RCV003606029 RCV003834369 RCV003842941 RCV005004155 RCV002506394 RCV001059616 RCV001070562 RCV001196678 RCV001229117
ALG8-related disorder	Likely pathogenic; Pathogenic	rs376161880, rs1288977289, rs2497066474, rs762811727, rs777686455	RCV004757187 RCV004529669 RCV004757592 RCV003596048 RCV004538480
Autosomal dominant polycystic liver disease	Likely pathogenic; Pathogenic	rs533704173, rs376161880, rs2497144999, rs866578354, rs2497085175, rs2496886120, rs777686455	RCV003448986 RCV003448977 RCV003448995 RCV003448996 RCV003448997 RCV003448999 RCV003448985
Familial cystic renal disease	Likely pathogenic; Pathogenic	rs200888240, rs376161880, rs762811727, rs777686455	RCV005429223 RCV005429236 RCV005429257 RCV005429317
Polycystic liver disease 3 with or without kidney cysts	Likely pathogenic; Pathogenic	rs200888240, rs533704173, rs2136903056, rs1323512637, rs2136899636, rs121908293, rs1470636347, rs121908294, rs2497114146, rs376161880, rs866578354, rs2497066474, rs745894763, rs867450807, rs762811727, rs968741434, rs756894409, rs777686455 View all (3 more)	RCV002490722 RCV005006055 RCV001808200 RCV002489904 RCV002492025 RCV002496232 RCV002496233 RCV002496234 RCV005011112 RCV000584794 RCV005012825 RCV003484554 RCV005003735 RCV005004155 RCV000584773 RCV002505624 RCV002489709 RCV002497778
See cases	Likely pathogenic; Pathogenic	rs376161880	RCV002252077

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs199911532	RCV005893623
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs1815861, rs199911532	RCV005911402 RCV005893624
Cholangiocarcinoma	Benign	rs553576	RCV005924741
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs199911532	RCV005893625
Congenital disorder of glycosylation	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1263505, rs200900718, rs538716086	RCV000377689 RCV000268516 RCV000283611
Familial cancer of breast	Conflicting classifications of pathogenicity	rs199911532	RCV005893622
Lung cancer	Conflicting classifications of pathogenicity	rs201483866	RCV005891000
Malignant tumor of esophagus	Benign	rs1815861	RCV005911401
Mesothelioma	Conflicting classifications of pathogenicity	rs201483866	RCV005890999
Sarcoma	Conflicting classifications of pathogenicity	rs199911532	RCV005893626
Thymoma	Benign	rs1815861	RCV005911403
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs199911532	RCV005893627
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs199911532	RCV005893628

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)