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	10195
Gene name	ALG3 alpha-1,3- mannosyltransferase
Gene symbol	ALG3
Synonyms (NCBI Gene)	CDG1DCDGS4CDGS6D16Ertd36eNOT56LNot56not
Chromosome	3
Chromosome location	3q27.1
Summary	This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosyla

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2233466	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs28940588	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103236	C>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103237	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs119103238	A>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs186946267	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs367679074	C>T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs370434427	C>A,G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs748878963	C>A	Likely-pathogenic	Splice donor variant
rs1028791709	T>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant
rs1085307980	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1085307981	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1553827968	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1560162116	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1560164682	T>C	Likely-pathogenic	Intron variant
rs1577105039	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005225	hsa-let-7b-5p	pSILAC	18668040
MIRT005258	hsa-miR-16-5p	pSILAC	18668040
MIRT023511	hsa-miR-1-3p	Proteomics	18668040
MIRT025687	hsa-miR-7-5p	Microarray	19073608
MIRT027484	hsa-miR-98-5p	Microarray	19088304
MIRT028778	hsa-miR-26b-5p	Microarray	19088304
MIRT005258	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT005258	hsa-miR-16-5p	Microarray	21199864
MIRT005225	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT048444	hsa-miR-100-5p	CLASH	23622248
MIRT046832	hsa-miR-222-3p	CLASH	23622248
MIRT778540	hsa-miR-1200	CLIP-seq
MIRT778541	hsa-miR-3126-5p	CLIP-seq
MIRT778542	hsa-miR-3132	CLIP-seq
MIRT778543	hsa-miR-3153	CLIP-seq
MIRT778544	hsa-miR-3529	CLIP-seq
MIRT778545	hsa-miR-379	CLIP-seq
MIRT778546	hsa-miR-3936	CLIP-seq
MIRT778547	hsa-miR-4324	CLIP-seq
MIRT778548	hsa-miR-4419a	CLIP-seq
MIRT778549	hsa-miR-4436b-3p	CLIP-seq
MIRT778550	hsa-miR-4510	CLIP-seq
MIRT778551	hsa-miR-4726-3p	CLIP-seq
MIRT778552	hsa-miR-510	CLIP-seq
MIRT778553	hsa-miR-544b	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000030	Function	Mannosyltransferase activity	IEA
GO:0000033	Function	Alpha-1,3-mannosyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	21516116, 25910212, 29547901, 31515488, 32296183
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10581255
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IBA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IDA	10581255
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IDA	10581255
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:0052925	Function	Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity	IBA
GO:0052925	Function	Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity	IDA	10581255
GO:0052925	Function	Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity	IEA
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IC	10581255

MIM	HGNC	e!Ensembl
608750	23056	ENSG00000214160

Q92685

Protein name

Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase (EC 2.4.1.258) (Asparagine-linked glycosylation protein 3 homolog) (Dol-P-Man-dependent alpha(1-3)-mannosyltransferase) (Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase) (Dolich

Protein function

Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05208	ALG3	47 → 406	ALG3 protein	Family

Sequence

MAAGLRKRGRSGSAAQAEGLCKQWLQRAWQERRLLLREPRYTLLVAACLCLAEVGITFWV
IHRVAYTEIDWKAYMAEVEGVINGTYDYTQLQGDTGPLVYPAGFVYIFMGLYYATSRGTD
IRMAQNIFAVLYLATLLLVFLIYHQTCKVPPFVFFFMCCASYRVHSIFVLRLFNDPVAMV
LLFLSINLLLAQRWGWGCCFFSLAVSVKMNVLLFAPGLLFLLLTQFGFRGALPKLGICAG
LQVVLGLPFLLENPSGYLSRSFDLGRQFLFHWTVNWRFLPEALFLHRAFHLALLTAHLTL
LLLFALCRWHRTGESILSLLRDPSKRKVPPQPLTPNQIVSTLFTSNFIGICFSRSLHYQF
YVWYFHTLPYLLWAMPARWLTHLLRLLVLGLIELSWNTYPSTSCSSAALHICHAVILLQL
WLGPQPFPKSTQHSKKAH

Sequence length

438

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective ALG3 causes ALG3-CDG (CDG-1d)

222

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALG3-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs546890576, rs1023520147, rs376927697, rs747953768, rs1719068613, rs2108442073, rs28940588, rs387906273, rs119103236, rs119103238, rs2473846363, rs762510540, rs2473859485, rs1287098925, rs770044637 View all (10 more)	RCV001361335 RCV001526666 RCV001543410 RCV001543406 RCV001543411 RCV001543414 RCV000002209 RCV000002210 RCV000002211 RCV000002213 RCV002824311 RCV003499934 RCV003497554 RCV003603225 RCV004587822 RCV003497858 RCV001543407 RCV000754609 RCV000754640 RCV000754641 RCV000754644 RCV000754835 RCV000785866 RCV001196118 RCV003770408
Congenital disorder of glycosylation	Likely pathogenic	rs1718972826	RCV004018348

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs77177287, rs2233463	RCV005915034 RCV005897637
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs2233463	RCV005897640
ALG3-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs76371354, rs2233468, rs200285629, rs775788284, rs573414976, rs190571910, rs2233466, rs372929338, rs774989694, rs779358679, rs757011568, rs369032582, rs1302268373	RCV003926362 RCV003936430 RCV004757554 RCV003946727 RCV003929263 RCV003910352 RCV003969992 RCV003894665 RCV003944183 RCV003961821 RCV003959569 RCV003947173 RCV003946919
Cervical cancer	Likely benign; Benign	rs77177287, rs2233463	RCV005915036 RCV005897641
Cholangiocarcinoma	Likely benign; Benign	rs77177287, rs2233463	RCV005915042 RCV005897649
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs77177287	RCV005915044
Clear cell carcinoma of kidney	Benign; Likely benign	rs2233463	RCV005897642
Colon adenocarcinoma	Benign; Likely benign	rs2233463	RCV005897636
Colorectal cancer	Benign; Likely benign	rs2233463	RCV005897644
Gastric cancer	Likely benign	rs77177287	RCV005915039
Hepatocellular carcinoma	Benign; Likely benign	rs2233463	RCV005897638
Intellectual disability	Uncertain significance	rs756802179	RCV001291086
Lung cancer	Likely benign; Benign	rs77177287, rs2233463	RCV005915043 RCV005897650
Lymphoma	Likely benign	rs77177287	RCV005915040
Malignant tumor of esophagus	Likely benign; Benign	rs77177287, rs2233463	RCV005915035 RCV005897639
Melanoma	Benign; Likely benign	rs2233463	RCV005897648
Ovarian cancer	Likely benign	rs77177287	RCV005915037
Sarcoma	Likely benign; Benign	rs77177287, rs2233463	RCV005915038 RCV005897645
Thymoma	Likely benign; Benign	rs77177287, rs2233463	RCV005915041 RCV005897646
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs2233463	RCV005897647
Uveal melanoma	Benign; Likely benign	rs2233463	RCV005897643

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36575396, 39287231
Carcinoma Non Small Cell Lung	Associate	31899049
Congenital Disorders of Glycosylation	Associate	26805780, 32389449, 32655146, 34440401, 35211808
Death	Associate	32655146
Epilepsy	Associate	32389449
Hemangioma	Associate	32389449
Inflammation	Associate	37308935
Lymphatic Metastasis	Stimulate	31899049
Muscular Dystrophy Congenital Type 1D	Associate	32389449
Nasopharyngeal Carcinoma	Associate	40083705
Neoplasm Metastasis	Stimulate	40312703
Neoplasms	Associate	31899049, 40312703
Urinary Bladder Neoplasms	Associate	40312703
Uterine Cervical Neoplasms	Associate	17504382

ALG3 (ALG3 alpha-1,3- mannosyltransferase)