ALG6 alpha-1,3-glucosyltransferase

Summary
Gene Symbol
  • ALG6
Aliases
  • dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
29929
GGDB ID
HGNC
23157
mRNA
map
  • 1p31.3
Protein
OMIM
KEGG Gene ID
hsa:29929
PubChem
29929
Alliance of Genome Resources
Annotation
Keyword
  • Congenital disorder of glycosylation
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9Y672
  • 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 glucosyltransferase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000088035

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg146
Gene Symbol
  • ALG6
Reactions
Displaying 1 entry
Donor Acceptor Product Reference
Dol-P-Glc
G39578OU
G24620AI
Displaying 1 entry
Donor Acceptor Product Reference
Dol-P-Glc
G39578OU
G24620AI
Orthologous Gene
Disease
Disease Ontology
Displaying entries 1 - 10 of 14 in total
DO ID Disease Name Source
DOID:0050570 congenital disorder of glycosylation type I
DOID:0080552 congenital disorder of glycosylation Ia
DOID:0080555 congenital disorder of glycosylation Ic
DOID:11832 visual epilepsy
DOID:1826 epilepsy
DOID:2451 protein S deficiency
DOID:2452 thrombophilia
DOID:3755 antithrombin III deficiency
DOID:3756 protein C deficiency
DOID:5212 congenital disorder of glycosylation
The Human Phenotype Ontology
Displaying entries 1 - 10 of 40 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000158 Macroglossia
HP:0000316 Hypertelorism
HP:0000369 Low-set ears
HP:0000486 Strabismus
HP:0000510 Rod-cone dystrophy
HP:0000546 Retinal degeneration
HP:0000707 Abnormality of the nervous system
HP:0000924 Abnormality of the skeletal system
HP:0000952 Jaundice
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79320
  • ALG6-congenital disorder of glycosylation 1C
OMIM:603147
  • ALG6-congenital disorder of glycosylation 1C
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP012356
Gene Name
ALG6, alpha-1,3-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