Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	29880
Gene name	ALG5 dolichyl-phosphate beta-glucosyltransferase
Gene symbol	ALG5
Synonyms (NCBI Gene)	PKD7bA421P11.2
Chromosome	13
Chromosome location	13q13.3
Summary	This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ens

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030480	hsa-miR-24-3p	Microarray	19748357
MIRT778554	hsa-miR-105	CLIP-seq
MIRT778555	hsa-miR-203	CLIP-seq
MIRT778556	hsa-miR-3117-5p	CLIP-seq
MIRT778557	hsa-miR-3646	CLIP-seq
MIRT778558	hsa-miR-3671	CLIP-seq
MIRT778559	hsa-miR-4282	CLIP-seq
MIRT778560	hsa-miR-4501	CLIP-seq
MIRT778561	hsa-miR-4504	CLIP-seq
MIRT778562	hsa-miR-4511	CLIP-seq
MIRT778563	hsa-miR-542-3p	CLIP-seq
MIRT778564	hsa-miR-548b-3p	CLIP-seq
MIRT778565	hsa-miR-590-3p	CLIP-seq
MIRT778566	hsa-miR-607	CLIP-seq
MIRT778556	hsa-miR-3117-5p	CLIP-seq
MIRT778562	hsa-miR-4511	CLIP-seq
MIRT778564	hsa-miR-548b-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004581	Function	Dolichyl-phosphate beta-glucosyltransferase activity	IEA
GO:0004581	Function	Dolichyl-phosphate beta-glucosyltransferase activity	IGI	10359825
GO:0004581	Function	Dolichyl-phosphate beta-glucosyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	32353859, 32838362, 33060197, 36217030
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	IBA
GO:0006487	Process	Protein N-linked glycosylation	IMP	10359825
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IMP	10359825
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	TAS
GO:0098556	Component	Cytoplasmic side of rough endoplasmic reticulum membrane	IGI	10359825

MIM	HGNC	e!Ensembl
604565	20266	ENSG00000120697

Q9Y673

Protein name

Dolichyl-phosphate beta-glucosyltransferase (DolP-glucosyltransferase) (EC 2.4.1.117) (Asparagine-linked glycosylation protein 5 homolog)

Protein function

Dolichyl-phosphate beta-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides b

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00535	Glycos_transf_2	68 → 250	Glycosyl transferase family 2	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung. {ECO:0000269|PubMed:10359825}.

Sequence

MAPLLLQLAVLGAALAAAALVLISIVAFTTATKMPALHRHEEEKFFLNAKGQKETLPSIW
DSPTKQLSVVVPSYNEEKRLPVMMDEALSYLEKRQKRDPAFTYEVIVVDDGSKDQTSKVA
FKYCQKYGSDKVRVITLVKNRGKGGAIRMGIFSSRGEKILMADADGATKFPDVEKLEKGL
NDLQPWPNQMAIACGSRAHLEKESIAQRSYFRTLLMYGFHFLVWFLCVKGIRDTQCGFKL
FTREAASRTFSSLHVERWAFDVELLYIAQFFKIPIAEIAVNWTEIEGSKLVPFWSWLQMG
KDLLFIRLRYLTGAWRLEQTRKMN

Sequence length

324

Interactions

View interactions

KEGG Pathway	Reactome Pathway
N-Glycan biosynthesis	Synthesis of dolichyl-phosphate-glucose
Metabolic pathways

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastric cancer	Pathogenic	rs749484470	RCV005931684	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease 7	Pathogenic; Likely pathogenic	rs2501484936, rs2501484628, rs1332833799, rs749484470, rs1326771857, rs2059045469	RCV002287539 RCV002287540 RCV002287541 RCV002287542 RCV003991155 RCV004555451 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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.
ALG5-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
autosomal dominant polycystic kidney disease	—	ClinGen	35896117, ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (6)
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	10359825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33473167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	35896117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	35896117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28403887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37033251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DNAJB11	2	["Polycystic kidney disease","autosomal dominant polycystic kidney disease"]	0	[]	7	["GWAS catalog (Polycystic kidney disease)","ClinGen (Polycystic kidney disease)","Orphanet (Polycystic kidney disease)","Disgenet (Polycystic kidney disease)","HPO (Polycystic kidney disease)","ClinVar (Polycystic kidney disease)","ClinGen (autosomal dominant polycystic kidney disease)"]
NEK8	2	["Polycystic kidney disease","autosomal dominant polycystic kidney disease"]	0	[]	7	["GWAS catalog (Polycystic kidney disease)","ClinGen (Polycystic kidney disease)","Orphanet (Polycystic kidney disease)","Disgenet (Polycystic kidney disease)","HPO (Polycystic kidney disease)","ClinVar (Polycystic kidney disease)","ClinGen (autosomal dominant polycystic kidney disease)"]
ALG8	2	["Polycystic kidney disease","autosomal dominant polycystic kidney disease"]	1	["N-Glycan biosynthesis"]	4	["GWAS catalog (Polycystic kidney disease)","ClinGen (Polycystic kidney disease)","Disgenet (Polycystic kidney disease)","ClinGen (autosomal dominant polycystic kidney disease)"]
DZIP1L	1	["Polycystic kidney disease"]	0	[]	7	["GWAS catalog (Polycystic kidney disease)","ClinGen (Polycystic kidney disease)","Orphanet (Polycystic kidney disease)","Disgenet (Polycystic kidney disease)","CTD (Polycystic kidney disease)","HPO (Polycystic kidney disease)","ClinVar (Polycystic kidney disease)"]
PKD2	2	["Polycystic kidney disease","autosomal dominant polycystic kidney disease"]	0	[]	8	["GWAS catalog (Polycystic kidney disease)","ClinGen (Polycystic kidney disease)","Orphanet (Polycystic kidney disease)","Disgenet (Polycystic kidney disease)","CTD (Polycystic kidney disease)","HPO (Polycystic kidney disease)","ClinVar (Polycystic kidney disease)","ClinGen (autosomal dominant polycystic kidney disease)"]

ALG5 (ALG5 dolichyl-phosphate beta-glucosyltransferase)

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