ALG3 alpha-1,3- mannosyltransferase

Summary
Gene Symbol
  • ALG3
Aliases
  • CDGS4
  • D16Ertd36e
  • NOT56L
  • Not56
  • carbohydrate deficient glycoprotein syndrome type IV
  • dol-P-Man dependent alpha-1,3- mannosyltransferase
  • dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
10195
GGDB ID
HGNC
23056
mRNA
map
  • 3q27.1
Protein
OMIM
KEGG Gene ID
hsa:10195
PubChem
10195
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Disease variant
  • Endoplasmic reticulum
  • Glycosyltransferase
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q92685
  • Asparagine-linked glycosylation protein 3 homolog
  • Dol-P-Man-dependent alpha(1-3)-mannosyltransferase
  • Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
  • Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase
  • Not56-like protein
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000214160

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
gg144
Gene Symbol
  • ALG3
Reactions
Displaying 1 entry
Donor Acceptor Product Reference
Dol-P-Man
G59406KS
G44865OQ
Displaying 1 entry
Donor Acceptor Product Reference
Dol-P-Man
G59406KS
G44865OQ
Orthologous Gene
KEGG BRITE Database
Orthology
K03845
Name
alpha-1,3-mannosyltransferase [EC:2.4.1.258]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R06258
Disease
Disease Ontology
Displaying entries 1 - 10 of 30 in total
DO ID Disease Name Source
DOID:0050570 congenital disorder of glycosylation type I
DOID:0080087 nonsyndromic congenital nail disorder 9
DOID:0080470 developmental and epileptic encephalopathy 36
DOID:0080556 congenital disorder of glycosylation Id
DOID:0080558 congenital disorder of glycosylation If
DOID:10608 celiac disease
DOID:10652 Alzheimer's disease
DOID:10907 microcephaly
DOID:11832 visual epilepsy
DOID:11836 clubfoot
The Human Phenotype Ontology
Displaying entries 1 - 10 of 75 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000119 Abnormality of the genitourinary system
HP:0000158 Macroglossia
HP:0000172 Abnormal uvula morphology
HP:0000193 Bifid uvula
HP:0000218 High palate
HP:0000252 Microcephaly
HP:0000286 Epicanthus
HP:0000365 Hearing impairment
HP:0000366 Abnormality of the nose
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79321
  • ALG3-congenital disorder of glycosylation
OMIM:601110
  • ALG3-congenital disorder of glycosylation
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP012351
Gene Name
ALG3, alpha-1,3- mannosyltransferase

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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