ALG11 alpha-1,2-mannosyltransferase

Summary
Gene Symbol
  • ALG11
Aliases
  • CDG1P
  • GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
  • KIAA0266
Organism
Homo sapiens (human)
External Links
NCBI Gene
440138
GGDB ID
HGNC
32456
mRNA
map
  • 13q14.3-21.1
Protein
OMIM
KEGG Gene ID
hsa:440138
PubChem
440138
Alliance of Genome Resources
Annotation
Keyword
  • Congenital disorder of glycosylation
  • Disease variant
  • Endoplasmic reticulum
  • Glycosyltransferase
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q2TAA5
  • Asparagine-linked glycosylation protein 11 homolog
  • Glycolipid 2-alpha-mannosyltransferase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000253710

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
gg201
Gene Symbol
  • ALG11
Reactions
Displaying all 2 entries
Donor Acceptor Product Reference
GDP-Man
G35257SQ
G59406KS
GDP-Man
G43547MI
G35257SQ
Displaying all 2 entries
Donor Acceptor Product Reference
GDP-Man
G35257SQ
G59406KS
GDP-Man
G43547MI
G35257SQ
Orthologous Gene
KEGG BRITE Database
Orthology
K03844
Name
alpha-1,2-mannosyltransferase [EC:2.4.1.131]
References
Reactions
Displaying all 2 entries
KEGG Reaction Enzyme Acceptor Product
R06128
R06127
Disease
Disease Ontology
Displaying entries 1 - 10 of 16 in total
DO ID Disease Name Source
DOID:0050570 congenital disorder of glycosylation type I
DOID:0060249 scoliosis
DOID:0080567 congenital disorder of glycosylation Ip
DOID:10003 sensorineural hearing loss
DOID:1059 intellectual disability
DOID:10907 microcephaly
DOID:11832 visual epilepsy
DOID:1443 cerebral degeneration
DOID:1826 epilepsy
DOID:5212 congenital disorder of glycosylation
The Human Phenotype Ontology
Displaying entries 21 - 30 of 52 in total
HPO ID HPO Term
HP:0001508 Failure to thrive
HP:0001987 Hyperammonemia
HP:0001999 Abnormal facial shape
HP:0002013 Vomiting
HP:0002059 Cerebral atrophy
HP:0002179 Opisthotonus
HP:0002282 Gray matter heterotopia
HP:0002375 Hypokinesia
HP:0002500 Abnormal cerebral white matter morphology
HP:0002509 Limb hypertonia
Displaying all 2 entries
Disease ID Disease Name
OMIM:613661
  • ALG11-congenital disorder of glycosylation
ORPHA:280071
  • ALG11-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