ALG14 UDP-N-acetylglucosaminyltransferase subunit

Summary
Gene Symbol
  • ALG14
Aliases
  • MGC19780
Organism
Homo sapiens (human)
External Links
NCBI Gene
199857
GGDB ID
HGNC
28287
mRNA
map
  • 1p21.3
Protein
OMIM
KEGG Gene ID
hsa:199857
PubChem
199857
Alliance of Genome Resources
Annotation
Keyword
  • Congenital myasthenic syndrome
  • Disease variant
  • Endoplasmic reticulum
  • Epilepsy
  • Intellectual disability
  • Neurodegeneration
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q96F25
  • Asparagine-linked glycosylation 14 homolog
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000172339

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
gg202
Gene Symbol
  • ALG14
Reactions
Displaying 1 entry
Donor Acceptor Product Reference
UDP-GlcNAc
G68544GH
G05026ZL
Displaying 1 entry
Donor Acceptor Product Reference
UDP-GlcNAc
G68544GH
G05026ZL
Orthologous Gene
KEGG BRITE Database
Orthology
K07441
Name
beta-1,4-N-acetylglucosaminyltransferase [EC:2.4.1.141]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05970
Disease
Disease Ontology
Displaying entries 1 - 10 of 18 in total
DO ID Disease Name Source
DOID:0060249 scoliosis
DOID:0060250 idiopathic scoliosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0110658 congenital myasthenic syndrome 15
DOID:0111338 isolated elevated serum creatine phosphokinase levels
DOID:1029 familial periodic paralysis
DOID:1059 intellectual disability
DOID:11836 clubfoot
The Human Phenotype Ontology
Displaying entries 1 - 10 of 71 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000218 High palate
HP:0000262 Turricephaly
HP:0000280 Coarse facial features
HP:0000303 Mandibular prognathia
HP:0000347 Micrognathia
HP:0000508 Ptosis
HP:0000581 Blepharophimosis
HP:0000717 Autism
HP:0000718 Aggressive behavior
Displaying all 4 entries
Disease ID Disease Name
OMIM:619036
  • myopathy, epilepsy, and progressive cerebral atrophy
OMIM:616227
  • congenital myasthenic syndrome 15
OMIM:619031
  • intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
ORPHA:353327
  • obsolete congenital myasthenic syndromes with glycosylation defect

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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