ALG5 (ALG5 dolichyl-phosphate beta-glucosyltransferase)

Gene

• Entrez ID: 29880
• Gene name: ALG5 dolichyl-phosphate beta-glucosyltransferase
• Gene symbol: ALG5
• Synonyms (NCBI Gene): PKD7, bA421P11.2
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 604565
• HGNC: 20266
• e!Ensembl: ENSG00000120697

Protein

• UniProt ID: 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

Pathways

KEGG:

N-Glycan biosynthesis
Metabolic pathways

Reactome:

Synthesis of dolichyl-phosphate-glucose

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALG5-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE	—	ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Congenital Disorders of Glycosylation	Associate	10359825	★☆☆☆☆ Found in Text Mining only
Fibrosis	Associate	35896117	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	37308935	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	33473167	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	33473167	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Associate	35896117	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Associate	35896117	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	28403887	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Associate	37033251	★☆☆☆☆ Found in Text Mining only