exostosin glycosyltransferase 1

Summary
Gene Symbol
  • EXT1
Aliases
  • Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
  • ttv
Organism
Homo sapiens (human)
External Links
NCBI Gene
2131
GGDB ID
HGNC
3512
mRNA
map
  • 8q24.11-q24.13
Protein
OMIM
KEGG Gene ID
hsa:2131
PubChem
2131
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Disease variant
  • Disulfide bond
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Hereditary multiple exostoses
  • Manganese
  • Metal-binding
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
  • Tumor suppressor
Proteins
Displaying 1 entry
UniProt Protein Name
Q16394
  • Exostosin glycosyltransferase 1
  • Heparan sulfate co-polymerase subunit EXT1
  • Multiple exostoses protein 1
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000182197

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
gg158
Gene Symbol
  • EXT1
Reactions
Displaying all 4 entries
Donor Acceptor Product Reference
UDP-GalNAc
G99041PQ
UDP-GlcUA
G99041PQ
UDP-GalNAc
G14371GV
UDP-GlcUA
G14371GV
Displaying all 4 entries
Donor Acceptor Product Reference
UDP-GlcUA
G14371GV
UDP-GlcUA
G99041PQ
UDP-GalNAc
G99041PQ
UDP-GalNAc
G14371GV
Orthologous Gene
KEGG BRITE Database
Orthology
K02366
Name
glucuronyl/N-acetylglucosaminyl transferase EXT1 [EC:2.4.1.224 2.4.1.225]
References
Reactions
Displaying all 2 entries
KEGG Reaction Enzyme Acceptor Product
R10138
R05935
Disease
Disease Ontology
Displaying entries 131 - 133 of 133 in total
DO ID Disease Name Source
DOID:971 tendinitis
DOID:9827 radioulnar synostosis
DOID:9952 acute lymphoblastic leukemia
The Human Phenotype Ontology
Displaying entries 41 - 50 of 92 in total
HPO ID HPO Term
HP:0002673 Coxa valga
HP:0002750 Delayed skeletal maturation
HP:0002762 Multiple exostoses
HP:0002763 Abnormal cartilage morphology
HP:0002812 Coxa vara
HP:0002815 Abnormality of the knee
HP:0002823 Abnormal femur morphology
HP:0002857 Genu valgum
HP:0002991 Abnormal fibula morphology
HP:0002992 Abnormal tibia morphology
Displaying all 4 entries
Disease ID Disease Name
ORPHA:321
  • hereditary multiple osteochondromas
OMIM:215300
  • chondrosarcoma
OMIM:133700
  • exostoses, multiple, type 1
ORPHA:502
  • trichorhinophalangeal syndrome type II

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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