ALG5 dolichyl-phosphate beta-glucosyltransferase

Summary
Gene Symbol
  • ALG5
Aliases
  • bA421P11.2
Organism
Homo sapiens (human)
External Links
NCBI Gene
29880
GGDB ID
HGNC
20266
mRNA
map
  • 13q13.3
Protein
OMIM
KEGG Gene ID
hsa:29880
PubChem
29880
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • Glycosyltransferase
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9Y673
  • Asparagine-linked glycosylation protein 5 homolog
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K00729
Name
dolichyl-phosphate beta-glucosyltransferase [EC:2.4.1.117]
References
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0050570 congenital disorder of glycosylation type I
DOID:0080322 polycystic kidney disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000010 Recurrent urinary tract infections
HP:0000083 Renal insufficiency
HP:0000105 Enlarged kidney
HP:0000107 Renal cyst
HP:0000790 Hematuria
HP:0000791 Uric acid nephrolithiasis
HP:0000822 Hypertension
HP:0001407 Hepatic cysts
HP:0001634 Mitral valve prolapse
Displaying all 2 entries
Disease ID Disease Name
OMIM:620056
  • polycystic kidney disease 7
ORPHA:730
  • autosomal dominant polycystic kidney disease
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP012355
Gene Name
ALG5, dolichyl-phosphate beta-glucosyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024