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	29929
Gene name	ALG6 alpha-1,3-glucosyltransferase
Gene symbol	ALG6
Synonyms (NCBI Gene)	CDG1C
Chromosome	1
Chromosome location	1p31.3
Summary	This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are ass

Show/Hide all (30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908443	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121908444	T>C	Pathogenic	Missense variant, coding sequence variant
rs199682486	G>A	Pathogenic	Intron variant
rs372079206	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs387906338	AAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs562934427	A>G	Likely-pathogenic	Missense variant, initiator codon variant
rs745426479	->T	Likely-pathogenic	Splice donor variant
rs755933716	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained
rs756566938	TT>-	Pathogenic	Coding sequence variant, stop gained
rs762643273	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs769698652	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs780528545	T>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs781097055	G>T	Likely-pathogenic	Splice donor variant
rs868768232	T>G	Pathogenic	Splice donor variant
rs879133727	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1036516188	G>A	Likely-pathogenic	Splice donor variant
rs1057517952	GTT>-	Likely-pathogenic, uncertain-significance	Inframe deletion, coding sequence variant
rs1207096732	T>-,TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1227131990	A>G	Likely-pathogenic	Splice acceptor variant
rs1387214955	T>C	Likely-pathogenic	Initiator codon variant, missense variant
rs1424742651	GGTAATACA>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553153399	->AAGA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553155565	A>G	Likely-pathogenic	Splice acceptor variant
rs1553155823	->CTGCTGGCTGCCATTCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553156882	A>C	Likely-pathogenic	Splice acceptor variant
rs1553156884	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553156894	TA>G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557585860	G>A	Pathogenic	Intron variant
rs1557597486	G>A	Likely-pathogenic	Splice donor variant
rs1570077925	->G	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (62)

miRTarBase ID	miRNA	Experiments
MIRT778567	hsa-miR-106a	CLIP-seq
MIRT778568	hsa-miR-106b	CLIP-seq
MIRT778569	hsa-miR-1200	CLIP-seq
MIRT778570	hsa-miR-1273g	CLIP-seq
MIRT778571	hsa-miR-128	CLIP-seq
MIRT778572	hsa-miR-17	CLIP-seq
MIRT778573	hsa-miR-1914	CLIP-seq
MIRT778574	hsa-miR-197	CLIP-seq
MIRT778575	hsa-miR-20a	CLIP-seq
MIRT778576	hsa-miR-20b	CLIP-seq
MIRT778577	hsa-miR-3074-5p	CLIP-seq
MIRT778578	hsa-miR-3124-3p	CLIP-seq
MIRT778579	hsa-miR-3617	CLIP-seq
MIRT778580	hsa-miR-371-5p	CLIP-seq
MIRT778581	hsa-miR-371b-5p	CLIP-seq
MIRT778582	hsa-miR-376c	CLIP-seq
MIRT778583	hsa-miR-4324	CLIP-seq
MIRT778584	hsa-miR-4698	CLIP-seq
MIRT778585	hsa-miR-4719	CLIP-seq
MIRT778586	hsa-miR-4728-3p	CLIP-seq
MIRT778587	hsa-miR-4729	CLIP-seq
MIRT778588	hsa-miR-4789-5p	CLIP-seq
MIRT778589	hsa-miR-5096	CLIP-seq
MIRT778590	hsa-miR-513b	CLIP-seq
MIRT778591	hsa-miR-513c	CLIP-seq
MIRT778592	hsa-miR-514b-5p	CLIP-seq
MIRT778593	hsa-miR-519a	CLIP-seq
MIRT778594	hsa-miR-519b-3p	CLIP-seq
MIRT778595	hsa-miR-519c-3p	CLIP-seq
MIRT778596	hsa-miR-519d	CLIP-seq
MIRT778597	hsa-miR-522	CLIP-seq
MIRT778598	hsa-miR-544b	CLIP-seq
MIRT778599	hsa-miR-548p	CLIP-seq
MIRT778600	hsa-miR-548t	CLIP-seq
MIRT778601	hsa-miR-628-5p	CLIP-seq
MIRT778602	hsa-miR-641	CLIP-seq
MIRT778603	hsa-miR-93	CLIP-seq
MIRT1929796	hsa-miR-1208	CLIP-seq
MIRT1929797	hsa-miR-23a	CLIP-seq
MIRT1929798	hsa-miR-23b	CLIP-seq
MIRT1929799	hsa-miR-23c	CLIP-seq
MIRT1929800	hsa-miR-3065-3p	CLIP-seq
MIRT1929801	hsa-miR-4291	CLIP-seq
MIRT2170594	hsa-miR-2355-5p	CLIP-seq
MIRT2170595	hsa-miR-3120-3p	CLIP-seq
MIRT2170596	hsa-miR-3679-3p	CLIP-seq
MIRT2170597	hsa-miR-3908	CLIP-seq
MIRT2170598	hsa-miR-4286	CLIP-seq
MIRT2170599	hsa-miR-4446-5p	CLIP-seq
MIRT2170600	hsa-miR-4520a-3p	CLIP-seq
MIRT2170601	hsa-miR-4753-3p	CLIP-seq
MIRT2170602	hsa-miR-4768-5p	CLIP-seq
MIRT2170603	hsa-miR-491-3p	CLIP-seq
MIRT2170604	hsa-miR-501-3p	CLIP-seq
MIRT2170605	hsa-miR-502-3p	CLIP-seq
MIRT2170606	hsa-miR-591	CLIP-seq
MIRT2384089	hsa-miR-2116	CLIP-seq
MIRT2170595	hsa-miR-3120-3p	CLIP-seq
MIRT2170597	hsa-miR-3908	CLIP-seq
MIRT2170600	hsa-miR-4520a-3p	CLIP-seq
MIRT2384090	hsa-miR-4677-5p	CLIP-seq
MIRT2170606	hsa-miR-591	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004583	Function	Dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	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	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IDA	10924277
GO:0006487	Process	Protein N-linked glycosylation	IMP	10359825, 25792706
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IBA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IMP	10359825, 25792706
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0042281	Function	Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IBA
GO:0042281	Function	Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IEA
GO:0042281	Function	Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IGI	10359825
GO:0042281	Function	Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IMP	25792706
GO:0046527	Function	Glucosyltransferase activity	IDA	10359825
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IC	10359825

MIM	HGNC	e!Ensembl
604566	23157	ENSG00000088035

Q9Y672

Protein name

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC 2.4.1.267) (Asparagine-linked glycosylation protein 6 homolog) (Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase) (Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferas

Protein function

Dolichyl pyrophosphate Man9GlcNAc2 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-link

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03155	Alg6_Alg8	14 → 488	ALG6, ALG8 glycosyltransferase family	Family

Sequence

MEKWYLMTVVVLIGLTVRWTVSLNSYSGAGKPPMFGDYEAQRHWQEITFNLPVKQWYFNS
SDNNLQYWGLDYPPLTAYHSLLCAYVAKFINPDWIALHTSRGYESQAHKLFMRTTVLIAD
LLIYIPAVVLYCCCLKEISTKKKIANALCILLYPGLILIDYGHFQYNSVSLGFALWGVLG
ISCDCDLLGSLAFCLAINYKQMELYHALPFFCFLLGKCFKKGLKGKGFVLLVKLACIVVA
SFVLCWLPFFTEREQTLQVLRRLFPVDRGLFEDKVANIWCSFNVFLKIKDILPRHIQLIM
SFCSTFLSLLPACIKLILQPSSKGFKFTLVSCALSFFLFSFQVHEKSILLVSLPVCLVLS
EIPFMSTWFLLVSTFSMLPLLLKDELLMPSVVTTMAFFIACVTSFSIFEKTSEEELQLKS
FSISVRKYLPCFTFLSRIIQYLFLISVITMVLLTLMTVTLDPPQKLPDLFSVLVCFVSCL
NFLFFLVYFNIIIMWDSKSGRNQKKIS

Sequence length

507

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 ALG6 causes ALG6-CDG (CDG-1c)

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs199682486	RCV005886538	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALG6-congenital disorder of glycosylation 1C	Likely pathogenic; Pathogenic	rs199682486, rs1274913587, rs2100415367, rs2100417039, rs2100421727, rs1227131990, rs755112036, rs1270337982, rs2100421533, rs2100440701, rs773277552, rs771069984, rs2100417620, rs1475789647, rs1644543791 View all (104 more)	RCV000192479 RCV001909364 RCV001377656 RCV001389795 RCV002545184 View all (123 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALG6-related disorder	Likely pathogenic; Pathogenic	rs199682486, rs121908443, rs1644631895	RCV004755763 RCV003407284 RCV003400361	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs199682486	RCV005886539	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs199682486	RCV005886540	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs199682486	RCV005886537	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1C	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY DISEASE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal cyst	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ALG6-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	20398363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20398363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	38256083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	27343064	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	BEFREE	31117816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1C	Congenital Disorder Of Glycosylation	UNIPROT_DG	10359825, 10914684, 10924277, 11106564, 11134235, 12357336, 14517965		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1C	Congenital Disorder Of Glycosylation	CLINVAR_DG	10359825, 10852543, 10914684, 10924277, 11106564, 12855228, 14517965, 15771971, 16007612, 19862844, 20447155, 23044053, 23430515, 25525159, 26453362, 27287710 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1C	Congenital Disorder Of Glycosylation	BEFREE	10914684, 11558905, 12855228, 14517965, 20398363, 21334936, 21899441		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1C	Congenital Disorder Of Glycosylation	GENOMICS_ENGLAND_DG	10914684, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1C	Congenital disorder of glycosylation	Pubtator	11106564, 20398363, 21437994	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1C	Congenital Disorder Of Glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	10359825, 11875054, 14517965, 20398363, 21899441, 23988505, 31117816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	10359825, 11106564, 20398363	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	27287710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	Pubtator	11106564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease 0 Muscle	Glycogen storage disease	Pubtator	27343064	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	27343064	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	38256083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	20398363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	38256083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	20398363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ALG6 (ALG6 alpha-1,3-glucosyltransferase)