ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Summary
Gene Symbol
  • ALG1
Aliases
  • CDG1K
  • HMAT1
  • HMT-1
  • Mat-1
Organism
Homo sapiens (human)
External Links
NCBI Gene
56052
GGDB ID
HGNC
18294
mRNA
map
  • 16p13.3
Protein
OMIM
KEGG Gene ID
hsa:56052
PubChem
56052
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Disease variant
  • Endoplasmic reticulum
  • Glycosyltransferase
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Signal
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9BT22
  • Asparagine-linked glycosylation protein 1 homolog
  • Beta-1,4-mannosyltransferase
  • GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase
  • GDP-mannose-dolichol diphosphochitobiose mannosyltransferase
  • Mannosyltransferase-1
A0A804HJL6
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000033011

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
gg142
Gene Symbol
  • ALG1
Reactions
Displaying 1 entry
Donor Acceptor Product Reference
GDP-Man
G05026ZL
G65996GC
Displaying 1 entry
Donor Acceptor Product Reference
GDP-Man
G05026ZL
G65996GC
Orthologous Gene
KEGG BRITE Database
Orthology
K03842
Name
beta-1,4-mannosyltransferase [EC:2.4.1.142]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05972
Disease
Disease Ontology
Displaying entries 71 - 75 of 75 in total
DO ID Disease Name Source
DOID:9074 systemic lupus erythematosus
DOID:930 orbital disease
DOID:9351 diabetes mellitus
DOID:9352 type 2 diabetes mellitus
DOID:9370 obsolete exophthalmos
The Human Phenotype Ontology
Displaying entries 31 - 40 of 50 in total
HPO ID HPO Term
HP:0001638 Cardiomyopathy
HP:0001744 Splenomegaly
HP:0001790 Nonimmune hydrops fetalis
HP:0001871 Abnormality of blood and blood-forming tissues
HP:0001999 Abnormal facial shape
HP:0002028 Chronic diarrhea
HP:0002059 Cerebral atrophy
HP:0002240 Hepatomegaly
HP:0002243 Protein-losing enteropathy
HP:0002650 Scoliosis
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79327
  • ALG1-congenital disorder of glycosylation
OMIM:608540
  • ALG1-congenital disorder of glycosylation
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP005763
Gene Name
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase

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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