EXTL3 - exostosin like glycosyltransferase 3 Gene

Also Known as RPR; BOTV; REGR; EXTR1; ISDNA; EXTL1L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2137

About EXTL3

Cytogenetic location: 8p21.1 Genomic coordinates (GRCh38): 8:28,607,736-28,755,599 (from NCBI)

This gene has 25 transcripts (splice variants), 209 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 14.3), brain (RPKM 13.9) and 25 other tissues.

Summary

This gene encodes a single-pass membrane protein which functions as a Glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]

EXTL3 Products (1)

mRNA	Protein	Name
NM_001440.4	NP_001431.1	exostosin-like 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	11390981	GOA
enables glycosyltransferase activity	IDA IDA: Inferred from direct assay	28132690	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	35676258	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein-hormone receptor activity	IDA IDA: Inferred from direct assay	22727489	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in heparan sulfate proteoglycan biosynthetic process	IDA IDA: Inferred from direct assay	11390981	GOA
involved in negative regulation of inflammatory response to wounding	IDA IDA: Inferred from direct assay	27830702	GOA
involved in negative regulation of keratinocyte differentiation	IDA IDA: Inferred from direct assay	22727489	GOA
involved in positive regulation of keratinocyte proliferation	IDA IDA: Inferred from direct assay	22727489	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	22727489	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	28132690	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10639137	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	19158046	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EXTL3 Protein Structure

Exostosin

Glyco_transf_64

0
200
400
600
800
919 a.a.

Protein Preferred Names	Protein Names
exostosin-like 3	EXT-related 1

EXTL3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EXTL3	O43909	ATXN1	Homo sapiens	P54253	Y2H Prey Pooling	32296183
Intra	EXTL3	O43909	ATXN1	Homo sapiens	P54253	Validated Y2H	32296183
Intra	EXTL3	O43909	ATXN1	Homo sapiens	P54253	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	ISDNA
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Extl3-Related Neuro-Immuno-Skeletal Dysplasia Syndrome Neuro-Immuno-Skeletal Dysplasia Syndrome Due To Extl3 Deficiency
Hereditary Multiple Exostoses	Multiple Congenital Exostosis Hereditary Multiple Exostoses 1 Hereditary Multiple Exostoses 2 Hereditary Multiple Exostoses 3 Multiple Exostosis Syndromes Multiple Ostechondromas Osteochondromatosis Syndrome Exostoses Multiple Hereditary Exostoses, Multiple Hereditary
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Sponastrime Dysplasia Spondylar And Nasal Alterations With Striated Metaphyses SEMDSP Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation Spondylar And Nasal Alterations-Striated Metaphyses Syndrome Spondyloepimetaphyseal Dysplasia Sponastrime Type Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation Dysplasia, Spondyloepimetaphyseal, Sponastrime Type
Mucopolysaccharidosis, Type Iiic	Mucopolysaccharidosis Type Iiic MPS3C Mps Iiic Sanfilippo Syndrome C Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency Hgsnat Deficiency Mpsiiic Mucopolysaccharidosis Type 3c Sanfilippo Syndrome Type C Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency Mucopoly-Saccharidosis Type 3c Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency Mps 3c Mps Iii-C Mucopolysaccharidosis 3c Mucopolysaccharidosis Iii Mps Iii C
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Spondyloepimetaphyseal Dysplasia, X-Linked	X-Linked Spondyloepimetaphyseal Dysplasia SEMDX Semd, X-Linked Semd X-Linked Spondyloepimetaphyseal Dysplasia X-Linked Spondylo-Epimetaphyseal Dysplasia
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Schneckenbecken Dysplasia	SHNKND Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis Chondrodysplasia Lethal Neonatal With Snail Like Pelvis Chondrodysplasia With Snail-Like Pelvis Slc35d1-Cdg Dysplasia, Schneckenbecken
Robinow Syndrome, Autosomal Dominant 1	Autosomal Dominant Robinow Syndrome 1 DRS1 Robinow Dwarfism Fetal Face Syndrome Acral Dysostosis With Facial And Genital Abnormalities Robinow, Autosomal Dominant Syndrome, Type 1
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Cloves Syndrome Clove Syndrome Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities Clove Syndrome, Somatic Nevus Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome CLOVE Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities Congenital Arteriovenous Malformation Arteriovenous Hemangioma Melanocytic Nevus Benign Melanocytic Nevus
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Omodysplasia	Omodysplasia Type 1 Omodysplasia 2
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B
Omenn Syndrome	Histiocytic Medullary Reticulosis Severe Combined Immunodeficiency With Hypereosinophilia Combined Immunodeficiency With Hypereosinophilia Reticuloendotheliosis, Familial, With Eosinophilia Reticuloendotheliosis Familial With Eosinophilia Familial Reticuloendotheliosis Omenn'S Syndrome OS Malignant Histiocytosis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04610	EXTL3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21566	Extl3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28084	Extl3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EXTL3	VGNC	VGNC:40535
Rattus norvegicus	EXTL3	RGD	RGD:62065
Bos taurus	EXTL3	VGNC	VGNC:28669
Mus musculus	EXTL3	MGD	MGI:1860765
Macaca mulatta	EXTL3	VGNC	VGNC:72452
Felis catus	EXTL3	VGNC	VGNC:62012
Others	EXTL3	NCBI