Gene Symbol | EXT1 |
Entrez ID | 2131 |
Uniprot ID | Q16394 |
Description | exostosin glycosyltransferase 1 |
Chromosomal Location | chr8: 117,794,490-118,111,853 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001501 |
skeletal system development |
The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). |
TAS |
BP |
GO:0001503 |
ossification |
The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
IMP |
BP |
GO:0006024 |
glycosaminoglycan biosynthetic process |
The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. |
IDA|TAS |
BP |
GO:0006486 |
protein glycosylation |
A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
IEA |
BP |
GO:0007165 |
signal transduction |
The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
TAS |
BP |
GO:0007369 |
gastrulation |
A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. |
IEA |
BP |
GO:0007411 |
axon guidance |
The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
IEA |
BP |
GO:0007492 |
endoderm development |
The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. |
IEA |
BP |
GO:0007498 |
mesoderm development |
The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. |
IEA |
BP |
GO:0015012 |
heparan sulfate proteoglycan biosynthetic process |
The chemical reactions and pathways resulting in the formation of the heparan sulfate proteoglycan, a glycosaminoglycan with repeat unit consisting of alternating alpha-(1->4)-linked hexuronic acid and glucosamine residues; the former are a mixture of sulfated and nonsulfated D-glucuronic acid and L-iduronic acid; the L-iduronic acid is either sulfated or acetylated on its amino group as well as being sulfated on one of its hydroxyl groups; heparan sulfate chains are covalently linked to peptidyl-serine by a glycosidic attachment through the trisaccharide galactosyl-galactosyl-xylosyl to serine residues. |
IDA|ISS |
BP |
GO:0015014 |
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process |
The chemical reactions and pathways resulting in the formation of polysaccharide chain component of heparan sulfate proteoglycan. |
IMP |
BP |
GO:0021772 |
olfactory bulb development |
The progression of the olfactory bulb over time from its initial formation until its mature state. The olfactory bulb coordinates neuronal signaling involved in the perception of smell. It receives input from the sensory neurons and outputs to the olfactory cortex. |
IEA |
BP |
GO:0033692 |
cellular polysaccharide biosynthetic process |
The chemical reactions and pathways resulting in the formation of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, occurring at the level of an individual cell. |
IDA |
BP |
GO:0072498 |
embryonic skeletal joint development |
The process, occurring during the embryonic phase, whose specific outcome is the progression of the skeletal joints over time, from formation to mature structure. |
IEA |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
TAS |
CC |
GO:0005783 |
endoplasmic reticulum |
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
IDA |
CC |
GO:0005789 |
endoplasmic reticulum membrane |
The lipid bilayer surrounding the endoplasmic reticulum. |
NAS |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
IDA |
CC |
GO:0016021 |
integral component of membrane |
The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
TAS |
CC |
GO:0030176 |
integral component of endoplasmic reticulum membrane |
The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
ISS |
MF |
GO:0008375 |
acetylglucosaminyltransferase activity |
Catalysis of the transfer of an N-acetylglucosaminyl residue from UDP-N-acetyl-glucosamine to a sugar. |
IDA |
MF |
GO:0015020 |
glucuronosyltransferase activity |
Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. |
IDA |
MF |
GO:0016757 |
transferase activity, transferring glycosyl groups |
Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor). |
IDA |
MF |
GO:0042328 |
heparan sulfate N-acetylglucosaminyltransferase activity |
Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + heparan sulfate = UDP + (N-acetyl-D-glucosaminyl)-heparan sulfate. |
NAS |
MF |
GO:0042803 |
protein homodimerization activity |
Interacting selectively and non-covalently with an identical protein to form a homodimer. |
IDA |
MF |
GO:0046872 |
metal ion binding |
Interacting selectively and non-covalently with any metal ion. |
IEA |
MF |
GO:0046982 |
protein heterodimerization activity |
Interacting selectively and non-covalently with a nonidentical protein to form a heterodimer. |
IPI |
MF |
GO:0050508 |
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity |
Catalysis of the reaction: beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP-N-acetyl-D-glucosamine = N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP. |
ISS|NAS |
MF |
GO:0050509 |
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity |
Catalysis of the reaction: N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP-alpha-D-glucuronate = beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP. |
ISS|NAS |
Domain ID | Description |
---|---|
IPR004263 |
Exostosin-like |
IPR015338 |
Exostosin , C-terminal |
IPR027670 |
Exostosin-1 |
IPR029044 |
Nucleotide-diphospho-sugar transferases |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa00534 |
Glycosaminoglycan biosynthesis - heparan sulfate / heparin |
KEGG |
hsa01100 |
Metabolic pathways |
KEGG |
WP2857 |
Mesodermal Commitment Pathway |
WikiPathways |
WP2853 |
Endoderm Differentiation |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0004352 |
Autistic Disorder |
C0008479 |
Chondrosarcoma |
C0015306 |
Hereditary Multiple Exostoses |
C0023003 |
Langer-Giedion Syndrome |
Tissue | Cell Type |
---|---|
colon |
glandular cells |
duodenum |
glandular cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
lung |
macrophages |
lymph node |
non-germinal center cells |
nasopharynx |
respiratory epithelial cells |
rectum |
glandular cells |
small intestine |
glandular cells |
tonsil |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
19141577 |
Kim et al. |
2009 |
Transcriptional Profiling with a Pathway-Oriented Analysis Identifies Dysregulated Molecular Phenotypes in the Endometrium of Patients with Polycystic Ovary Syndrome |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
MYH1 |
4619 |
P12882 |
0.63 |
CNTF |
1270 |
P26441 |
0.76 |
OSTF1 |
26578 |
Q92882 |
0.76 |
EXT1 |
2131 |
Q16394 |
0.85 |
PLAUR |
5329 |
Q03405 |
0.63 |
PTCH1 |
5727 |
Q13635 |
0.63 |
PEX19 |
5824 |
P40855 |
0.63 |
NAAA |
27163 |
Q02083 |
0.63 |
ERGIC3 |
51614 |
Q9Y282 |
0.63 |
SYNE4 |
163183 |
Q8N205 |
0.63 |
TRAP1 |
10131 |
Q12931 |
0.78 |
EXT2 |
2132 |
Q93063 |
0.92 |