ALG6 (ALG6 alpha-1,3-glucosyltransferase)

Gene

• Entrez ID: 29929
• Gene name: ALG6 alpha-1,3-glucosyltransferase
• Gene symbol: ALG6
• Synonyms: 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 604566
• HGNC: 23157
• e!Ensembl: 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

Pathways

KEGG:

N-Glycan biosynthesis
Metabolic pathways

Reactome:

Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective ALG6 causes ALG6-CDG (CDG-1c)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Antithrombin deficiency	Antithrombin III Deficiency	rs121909546, rs121909547, rs121909548, rs121909549, rs121909550, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs121909558, rs28929469, rs1572088837, rs121909560, rs121909561, rs121909562, rs121909563, rs121909564, rs121909567, rs2102789885, rs2102784614, rs2102778876, rs121909569, rs387906575, rs121909570, rs121909571, rs121909572, rs121909573, rs2102773181, rs2102772927, rs483352856, rs483352854, rs786204063, rs863224495, rs542881762, rs758087836, rs1487411568, rs1460568494, rs1572088775, rs1572088823, rs1572088853, rs1572090173, rs1572091783, rs1572091831, rs1572092076, rs1572092103, rs1572086894, rs1572088865, rs765445413, rs1572090305, rs1572090368, rs1572088348, rs1572090079, rs1449772752, rs1657909645
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, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	11106564, 27287710, 26453362, 10359825, 20447155, 14517965, 10914684, 15771971, 25525159, 27604308, 12357336, 16007612, 10924277, 12855228, 10852543, 23044053, 23430515, 19862844, 11134235
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682

Unknown
Disease name	Disease term	dbSNP ID	References
Strabismus	Strabismus