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exostosin like glycosyltransferase 1

Summary

Gene Symbol

EXTL1

Aliases

EXTL
MGC70794
alpha-N-acetylglucosaminyltransferase II
exostosin-L
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

2134

GGDB ID

gg160

HGNC

3515

mRNA

NM_004455

map

1p36.1

Protein

NP_004446

OMIM

601738

KEGG Gene ID

hsa:2134

PubChem

2134

Alliance of Genome Resources

HGNC:3515

Annotation

Keyword

Disulfide bond
Endoplasmic reticulum
Glycoprotein
Glycosyltransferase
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q92935	Exostosin-L Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Multiple exostosis-like protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
skeletal system development	TAS	9037597
heparan sulfate proteoglycan biosynthetic process	IDA	11390981
protein glycosylation	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation

organonitrogen compound biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

sulfur compound biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

macromolecule glycosylation [inference]

protein glycosylation

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation

organonitrogen compound biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

sulfur compound biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

developmental process [inference]

anatomical structure development [inference]

system development [inference]

skeletal system development

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	TAS
Golgi apparatus	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

Displaying **all 4** entries
GO Term	Evidence Code	PMID
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA	11390981
acetylglucosaminyltransferase activity	IBA
protein binding	IPI	32296183
glucuronosyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity

glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

glucuronosyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity

glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

glucuronosyltransferase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000158008

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg160

Gene Symbol

EXTL1

Reactions

Displaying **all 3** entries
Donor	Acceptor	Reference
UDP-GlcNAc	G99041PQ	11390981
UDP-GlcNAc	G14371GV	11390981
UDP-GlcUA	G87877ES	11390981

Orthologous Gene

Displaying **all 2** entries
Species	Protein	mRNA
Rattus norvegicus	XP_233547	XM_233547
Mus musculus	NP_062524	NM_019578

KEGG BRITE Database

Orthology

K02368

Name

alpha-1,4-N-acetylglucosaminyltransferase EXTL1 [EC:2.4.1.224]

References

11390981

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R05936	2.4.1.224	G74553IH	G18844FT

Rhea

RHEA:16213

UDP-N-acetyl-α-D-glucosamine

H⁺ + UDP

Enzyme

2.4.1.224

PMID

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:162	cancer	DisGeNET DisGeNET DisGeNET
DOID:206	hereditary multiple exostoses	Alliance of Genome Resources
DOID:4766	embryoma	DisGeNET
DOID:769	neuroblastoma	DisGeNET DisGeNET

Ortholog

Displaying entries **1 - 10** of 56 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	178080	WB:WBGene00004360
Drosophila melanogaster	36614	FB:FBgn0265974
Danio rerio	497281	ZFIN:ZDB-GENE-050211-5
Sarcophilus harrisii	100918977		SARHA02579
Callithrix jacchus	100412852		CALJA39512
Cercocebus atys	105594948		CERAT06310
Macaca fascicularis	102125916		MACFA23154
Macaca mulatta	713664		MACMU25322
Macaca nemestrina	105494488		MACNE01540
Papio anubis	101009465		PAPAN20700

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

International Collaboration

Acknowledgements