Protein Description

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

No databases found.

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