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exostosin like glycosyltransferase 3

Summary

Gene Symbol

EXTL3

Aliases

REG receptor
REGR
botv
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

2137

GGDB ID

gg162

HGNC

3518

mRNA

NM_001440

map

8p21

Protein

NP_001431

OMIM

605744

KEGG Gene ID

hsa:2137

PubChem

2137

Alliance of Genome Resources

HGNC:3518

Annotation

Keyword

3D-structure
Cell membrane
Coiled coil
Disease variant
Disulfide bond
Dwarfism
Endoplasmic reticulum
Glycoprotein
Glycosyltransferase
Golgi apparatus
Intellectual disability
Manganese
Metal-binding
Nucleus
Phosphoprotein
Reference proteome
Signal-anchor
Transferase
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A384NPY9
O43909	EXT-related protein 1 Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Hereditary multiple exostoses gene isolog Multiple exostosis-like protein 3 Putative tumor suppressor protein EXTL3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
negative regulation of keratinocyte differentiation	IDA	22727489
negative regulation of cytokine production involved in inflammatory response	ISS	28811323
positive regulation of keratinocyte proliferation	IDA	22727489
negative regulation of inflammatory response to wounding	IDA	27830702
heparan sulfate proteoglycan biosynthetic process	IDA IEA	11390981 28132690 28148688 35676258

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

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of cytokine production [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cytokine production involved in inflammatory response [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of cytokine production [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cytokine production involved in inflammatory response [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of cytokine production [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cytokine production involved in inflammatory response [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of signaling [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of intracellular signal transduction [inference]

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of growth [inference]

regulation of cell growth [inference]

positive regulation of cell growth

positive regulation of growth [inference]

positive regulation of cell growth

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of growth [inference]

positive regulation of cell growth

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of keratinocyte proliferation

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of cell growth

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of detection of glucose

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

negative regulation of response to stimulus [inference]

negative regulation of defense response [inference]

negative regulation of inflammatory response

negative regulation of inflammatory response to wounding

negative regulation of response to external stimulus [inference]

negative regulation of inflammatory response

negative regulation of inflammatory response to wounding

negative regulation of response to wounding [inference]

negative regulation of inflammatory response to wounding

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

negative regulation of epidermis development [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

negative regulation of multicellular organismal process [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of keratinocyte differentiation

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of intracellular signal transduction [inference]

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of response to external stimulus [inference]

negative regulation of response to external stimulus [inference]

negative regulation of inflammatory response

negative regulation of inflammatory response to wounding

regulation of inflammatory response [inference]

negative regulation of inflammatory response

negative regulation of inflammatory response to wounding

regulation of inflammatory response to wounding [inference]

negative regulation of inflammatory response to wounding

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of detection of glucose

negative regulation of response to stimulus [inference]

negative regulation of defense response [inference]

negative regulation of inflammatory response

negative regulation of inflammatory response to wounding

negative regulation of response to external stimulus [inference]

negative regulation of inflammatory response

negative regulation of inflammatory response to wounding

negative regulation of response to wounding [inference]

negative regulation of inflammatory response to wounding

regulation of response to stress [inference]

regulation of defense response [inference]

negative regulation of defense response [inference]

negative regulation of inflammatory response

negative regulation of inflammatory response to wounding

regulation of inflammatory response [inference]

negative regulation of inflammatory response

negative regulation of inflammatory response to wounding

regulation of inflammatory response to wounding [inference]

negative regulation of inflammatory response to wounding

regulation of response to wounding [inference]

regulation of inflammatory response to wounding [inference]

negative regulation of inflammatory response to wounding

negative regulation of response to wounding [inference]

negative regulation of inflammatory response to wounding

regulation of detection of glucose [inference]

positive regulation of detection of glucose

regulation of developmental process [inference]

regulation of cell differentiation [inference]

regulation of epithelial cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of epidermal cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

negative regulation of keratinocyte differentiation

negative regulation of cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of epidermis development [inference]

regulation of epidermal cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

negative regulation of keratinocyte differentiation

negative regulation of epidermis development [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

negative regulation of epidermis development [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of multicellular organismal development [inference]

regulation of epithelial cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of epidermal cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of intracellular signal transduction [inference]

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of cytokine production [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cytokine production involved in inflammatory response [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of keratinocyte proliferation

regulation of epithelial cell proliferation [inference]

regulation of keratinocyte proliferation [inference]

positive regulation of keratinocyte proliferation

positive regulation of epithelial cell proliferation [inference]

positive regulation of keratinocyte proliferation

regulation of cell differentiation [inference]

regulation of epithelial cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of epidermal cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

negative regulation of keratinocyte differentiation

negative regulation of cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of keratinocyte proliferation

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of cell growth

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of cellular component organization [inference]

regulation of cell growth [inference]

positive regulation of cell growth

regulation of multicellular organismal process [inference]

regulation of cytokine production [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

regulation of cytokine production involved in inflammatory response [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of multicellular organismal process [inference]

negative regulation of cytokine production [inference]

negative regulation of cytokine production involved in inflammatory response

negative regulation of keratinocyte differentiation

regulation of multicellular organismal development [inference]

regulation of epithelial cell differentiation [inference]

negative regulation of epithelial cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of epidermal cell differentiation [inference]

negative regulation of epidermal cell differentiation [inference]

negative regulation of keratinocyte differentiation

regulation of keratinocyte differentiation [inference]

negative regulation of keratinocyte differentiation

Displaying **all 5** entries
GO Term	Evidence Code	PMID
nucleus	IEA
endoplasmic reticulum	IDA	10639137
endoplasmic reticulum membrane	TAS
plasma membrane	IDA	19158046
Golgi apparatus	IBA IDA	28132690

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Displaying **all 5** entries
GO Term	Evidence Code	PMID
glycosyltransferase activity	IBA IDA	28132690 28148688
magnesium ion binding	IDA	35676258
protein-hormone receptor activity	IDA ISS	22727489 27830702 28811323 36240758
protein binding	IPI	32296183
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA	11390981 35676258

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity [inference]

glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity [inference]

glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

magnesium ion binding

molecular transducer activity [inference]

signaling receptor activity [inference]

protein-hormone receptor activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000012232

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

gg162

Gene Symbol

EXTL3

Reactions

Displaying 1 entry
Donor	Acceptor	Product	Reference
UDP-GlcNAc	G99041PQ		11390981

Displaying **all 2** entries
Donor	Acceptor	Product	Reference
UDP-GlcNAc	G14371GV		11390981
UDP-GlcUA	G87877ES		11390981

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Rattus norvegicus	NP_064482	NM_020097
Drosophila melanogaster	NP_523790	NM_079066
Caenorhabditis elegans	NP_499368	NM_066967
Mus musculus	NP_061258	NM_018788

KEGG BRITE Database

Orthology

K02370

Name

alpha-1,4-N-acetylglucosaminyltransferase EXTL3 [EC:2.4.1.223 2.4.1.224]

References

11121397

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R05930	2.4.1.223	G14371GV	G13581JW
R05936	2.4.1.224	G74553IH	G18844FT

Rhea

RHEA:16221

UDP-N-acetyl-α-D-glucosamine

H⁺ + UDP

Enzyme

2.4.1.223

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0040085	bacterial sepsis	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0080199	colorectal carcinoma	DisGeNET
DOID:0110938	autosomal dominant osteopetrosis 2	DisGeNET
DOID:0110946	autosomal recessive osteopetrosis 7	DisGeNET
DOID:0111393	mucopolysaccharidosis type IIIC	DisGeNET
DOID:0111395	mucopolysaccharidosis type IIIA	DisGeNET
DOID:1059	intellectual disability	DisGeNET
DOID:1115	sarcoma	DisGeNET
DOID:11934	head and neck cancer	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **114** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000085	Horseshoe kidney
HP:0000160	Narrow mouth
HP:0000194	Open mouth
HP:0000212	Gingival overgrowth
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000276	Long face
HP:0000280	Coarse facial features
HP:0000293	Full cheeks

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:617425	immunoskeletal dysplasia with neurodevelopmental abnormalities
ORPHA:508533	skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

PubChem Disease

MedGen Diseases

Immunoskeletal dysplasia with neurodevelopmental abnormalities

OMIM Phenotypes

IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

KEGG Diseases

Immunoskeletal dysplasia with neurodevelopmental abnormalities

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 93 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	176502	WB:WBGene00004361
Drosophila melanogaster	37198	FB:FBgn0027535
Callorhinchus milii	103188516		CALMI39270
Callorhinchus milii	121848587		CALMI39270
Latimeria chalumnae	102361988		LATCH08509
Danio rerio	493783	ZFIN:ZDB-GENE-041124-2	DANRE19765
Astyanax mexicanus	103041905		ASTMX01267
Ictalurus punctatus	108257719		ICTPU20485
Electrophorus electricus	113571699		ELEEL10351
Salmo salar	106571659		SALSA39577

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements