ALG12 alpha-1,6-mannosyltransferase

Summary
Gene Symbol
  • ALG12
Aliases
  • CDG1G
  • ECM39
  • dol-P-Man dependent alpha-1,6-mannosyltransferase
  • dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
79087
GGDB ID
HGNC
19358
mRNA
map
  • 22q13.33
Protein
OMIM
KEGG Gene ID
hsa:79087
PubChem
79087
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
Q9BV10
  • Asparagine-linked glycosylation protein 12 homolog
  • Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase
  • Mannosyltransferase ALG12 homolog
  • Membrane protein SB87
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000182858

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
gg151
Gene Symbol
  • ALG12
Reactions
Displaying 1 entry
Donor Acceptor Product Reference
Dol-P-Man
G72103RY
G48148JS
Displaying 1 entry
Donor Acceptor Product Reference
Dol-P-Man
G72103RY
G48148JS
Orthologous Gene
KEGG BRITE Database
Orthology
K03847
Name
alpha-1,6-mannosyltransferase [EC:2.4.1.260]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R06260
Disease
Disease Ontology
Displaying entries 1 - 10 of 31 in total
DO ID Disease Name Source
DOID:0050570 congenital disorder of glycosylation type I
DOID:0050572 cone-rod dystrophy
DOID:0080470 developmental and epileptic encephalopathy 36
DOID:0080557 congenital disorder of glycosylation Ie
DOID:0080559 congenital disorder of glycosylation Ig
DOID:0110106 atrial heart septal defect 1
DOID:0110107 atrial heart septal defect 2
DOID:0110108 atrial heart septal defect 3
DOID:0110109 atrial heart septal defect 4
DOID:0110110 atrial heart septal defect 5
The Human Phenotype Ontology
Displaying entries 1 - 10 of 109 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000046 Small scrotum
HP:0000047 Hypospadias
HP:0000054 Micropenis
HP:0000119 Abnormality of the genitourinary system
HP:0000219 Thin upper lip vermilion
HP:0000253 Progressive microcephaly
HP:0000276 Long face
HP:0000286 Epicanthus
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79324
  • ALG12-congenital disorder of glycosylation
OMIM:607143
  • ALG12-congenital disorder of glycosylation

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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