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.	29929
Gene name Gene Name - the full gene name approved by the HGNC.	ALG6 alpha-1,3-glucosyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALG6
Synonyms (NCBI Gene) Gene synonyms aliases	CDG1C
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CDG1C
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p31.3
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 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(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004583	Function	Dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006487	Process	Protein N-linked glycosylation	IBA	21873635
GO:0006487	Process	Protein N-linked glycosylation	IDA	10924277
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0006490	Process	Oligosaccharide-lipid intermediate biosynthetic process	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0042281	Function	Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IBA	21873635
GO:0046527	Function	Glucosyltransferase activity	IDA	10359825

MIM	HGNC	e!Ensembl
604566	23157	ENSG00000088035

Protein

UniProt ID

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)

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Antithrombin deficiency	Antithrombin III Deficiency	rs121909546, rs121909547, rs121909548, rs121909549, rs121909550, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs121909558, rs28929469, rs1572088837, rs121909560 View all (41 more)
Congenital disorder of glycosylation	Congenital disorder of glycosylation type 1C, ALG6-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406 View all (80 more)	11106564, 27287710, 26453362, 10359825, 20447155, 14517965, 10914684, 15771971, 25525159, 27604308, 12357336, 16007612, 10924277, 12855228, 10852543 View all (4 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116 View all (10 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Cystic Kidney Disease	cystic kidney disease			GenCC

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
Ataxia	Associate	20398363
Cardiomyopathy Dilated	Associate	20398363
Cone Dystrophy	Associate	38256083
Congenital disorder of glycosylation type 1A	Associate	27343064
Congenital disorder of glycosylation type 1C	Associate	11106564, 20398363, 21437994
Congenital Disorders of Glycosylation	Associate	10359825, 11106564, 20398363
Gastroenteritis	Associate	11106564
Glycogen Storage Disease 0 Muscle	Associate	27343064
Glycogen Storage Disease XIV	Associate	27343064
Muscle Hypotonia	Associate	20398363
Myopathies Nemaline	Associate	38256083
Protein Losing Enteropathies	Associate	11106564
Psychomotor Disorders	Associate	20398363
Retinal Degeneration	Associate	38256083
Seizures	Associate	20398363

ALG6 (ALG6 alpha-1,3-glucosyltransferase)