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)
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
JoGo
EXT1
TogoVar
EXT1
Annotation
Keyword
  • 3D-structure
  • Disease variant
  • Disulfide bond
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Hereditary multiple exostoses
  • Manganese
  • Metal-binding
  • Proteomics identification
  • 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.

Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:206 hereditary multiple exostoses
DOID:3371 chondrosarcoma
The Human Phenotype Ontology
Displaying entries 31 - 40 of 92 in total
HPO ID HPO Term
HP:0001883 Talipes
HP:0002002 Deep philtrum
HP:0002015 Dysphagia
HP:0002107 Pneumothorax
HP:0002119 Ventriculomegaly
HP:0002144 Tethered cord
HP:0002176 Spinal cord compression
HP:0002209 Sparse scalp hair
HP:0002318 Cervical myelopathy
HP:0002653 Bone pain
Displaying all 4 entries
Disease ID Disease Name
ORPHA:502
  • trichorhinophalangeal syndrome type II
ORPHA:321
  • hereditary multiple osteochondromas
OMIM:215300
  • chondrosarcoma
OMIM:133700
  • exostoses, multiple, type 1

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International Collaboration

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: April 6, 2026