ALG9 alpha-1,2-mannosyltransferase

Summary
Gene Symbol
  • ALG9
Aliases
  • dol-P-Man dependent alpha-1,2-mannosyltransferase
  • dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
  • dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
79796
GGDB ID
HGNC
15672
mRNA
map
  • 11q22-23
Protein
OMIM
KEGG Gene ID
hsa:79796
PubChem
79796
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Chromosomal rearrangement
  • Congenital disorder of glycosylation
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9H6U8
  • Asparagine-linked glycosylation protein 9 homolog
  • Disrupted in bipolar disorder protein 1
  • Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
  • Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000086848

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
gg148
Gene Symbol
  • ALG9
Reactions
Displaying all 2 entries
Donor Acceptor Product Reference
Dol-P-Man
G48148JS
G39578OU
Dol-P-Man
G44865OQ
G72103RY
Displaying all 2 entries
Donor Acceptor Product Reference
Dol-P-Man
G44865OQ
G72103RY
Dol-P-Man
G48148JS
G39578OU
Orthologous Gene
KEGG BRITE Database
Orthology
K03846
Name
alpha-1,2-mannosyltransferase [EC:2.4.1.259 2.4.1.261]
References
Reactions
Displaying all 2 entries
KEGG Reaction Enzyme Acceptor Product
R06259
R06261
Disease
Disease Ontology
Displaying entries 11 - 20 of 52 in total
DO ID Disease Name Source
DOID:0070122 Meckel syndrome 8
DOID:0080564 congenital disorder of glycosylation Il
DOID:0110858 polycystic kidney disease 1
DOID:10293 monocular esotropia
DOID:1059 intellectual disability
DOID:10907 microcephaly
DOID:11119 Gilles de la Tourette syndrome
DOID:11175 enophthalmos
DOID:11328 schizophreniform disorder
DOID:114 heart disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 137 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000010 Recurrent urinary tract infections
HP:0000083 Renal insufficiency
HP:0000105 Enlarged kidney
HP:0000107 Renal cyst
HP:0000113 Polycystic kidney dysplasia
HP:0000126 Hydronephrosis
HP:0000154 Wide mouth
HP:0000193 Bifid uvula
HP:0000219 Thin upper lip vermilion
Displaying all 4 entries
Disease ID Disease Name
ORPHA:79328
  • ALG9-congenital disorder of glycosylation
OMIM:263210
  • Gillessen-Kaesbach-Nishimura syndrome
ORPHA:730
  • autosomal dominant polycystic kidney disease
OMIM:608776
  • ALG9-congenital disorder of glycosylation

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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