B3GAT3 - beta-1,3-glucuronyltransferase 3 Gene

Homo sapiens

Also known as JDSCD; GLCATI; glcUAT-I

Gene ID: 26229 | Gene type: protein coding

About B3GAT3

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,615,296-62,621,986 (from NCBI)

This gene has 6 transcripts (splice variants), 193 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 10.1), lymph node (RPKM 9.2) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the glucuronyltransferase gene family, Enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]

B3GAT3 Products(4)

mRNA	Protein	Name
NM_001288721.2	NP_001275650.1	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 2
NM_001288722.2	NP_001275651.1	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 3
NM_001288723.2	NP_001275652.1	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 4
NM_012200.4	NP_036332.2	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables glucuronosyltransferase activity	IDA IDA: Inferred from direct assay	25893793	GOA
enables glucuronosyltransferase activity	IMP IMP: Inferred from mutant phenotype	21763480	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24425863	GOA
enables protein phosphatase activator activity	IDA IDA: Inferred from direct assay	24425863	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within chondroitin sulfate proteoglycan biosynthetic process	IDA IDA: Inferred from direct assay	21763480	GOA
involved in chondroitin sulfate proteoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	25893793	GOA
acts upstream of or within dermatan sulfate proteoglycan biosynthetic process	IDA IDA: Inferred from direct assay	21763480	GOA
involved in dermatan sulfate proteoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	25893793	GOA
involved in glycosaminoglycan biosynthetic process	IDA IDA: Inferred from direct assay	24425863	GOA
involved in glycosaminoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	25893793	GOA
acts upstream of or within heparan sulfate proteoglycan biosynthetic process	IDA IDA: Inferred from direct assay	21763480	GOA
involved in heparan sulfate proteoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	25893793	GOA
involved in positive regulation of catalytic activity	IDA IDA: Inferred from direct assay	24425863	GOA
involved in positive regulation of intracellular protein transport	IMP IMP: Inferred from mutant phenotype	24425863	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	21763480	GOA
located in cis-Golgi network	IDA IDA: Inferred from direct assay	21763480	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

B3GAT3 Protein Structure

Glyco_transf_43

0
100
200
300
335 a.a.

Protein Preferred Names

Protein Names

galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3

Sqv-8-like protein

Recombinant B3GAT3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7626	B3GAT3 Protein, Human (His)	O94766-1 (E72-V335)	≥95%
HY-P700269	B3GAT3 Protein, Human (N-His)	NP_036332.2 (E72-V335)	≥95%

Related Diseases

Diseases

Alias

Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects

JDSCD	Larsen Syndrome, Autosomal Recessive, Formerly
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects	Autosomal Recessive Larsen Syndrome
Larsen-Like Syndrome	Larsen-Like Syndrome B3gat3 Type
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism Without Congenital Heart Defects	Larsen Syndrome, Recessive Type

Larsen-Like Syndrome B3gat3 Type

Larsen-Like Syndrome, B3gat3 Type	Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects	Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

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

Pseudodiastrophic Dysplasia

PDD	Pseudodiastrophic Dwarfism

Desbuquois Dysplasia

Desbuquois Syndrome	Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification
Dysplasia, Desbuquois

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures

SEMDJL1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Semdjl	Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures
Semdjl-Beighton Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type

Larsen Syndrome

LRS	Larsen Syndrome, Dominant Type
Dominant Larsen Syndrome	Autosomal Dominant Larsen Syndrome
Larsens Syndrome

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity	Semdjl
Spondyloepimetaphyseal Dysplasia Joint Laxity	Semd-Jl
Semdjl1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type	TPBS
Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies	Preaxial Brachydactyly Syndrome Temtamy Type

Loeys-Dietz Syndrome 5

Rienhoff Syndrome	LDS5
Rnhf	Reinhoff Syndrome
Loeys-Dietz Syndrome, Type 5

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Ehlers-Danlos Syndrome Progeroid Type	Ehlers-Danlos Syndrome, Progeroid Type, 2
EDSSPD2	Ehlers-Danlos Syndrome Spondylodysplastic Type 2
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly	Edsp2, Formerly
Defective Biosynthesis Of Proteodermatan Sulfate	Xgpt Deficiency
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
B3galt6-Related Speds	B3galt6-Related Spondylodysplastic Eds
Beta3galt6-Deficient Eds	Ehlers-Danlos Syndrome Progeroid Type 2
Speds-B3galt6	Edsp2
Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2	Ehlers-Danlos Syndrome, Progeroid Form

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica	Geroderma Osteodysplastica
GO	Walt Disney Dwarfism
Type Of Gerodermia Osteodysplastica

Loeys-Dietz Syndrome 4

LDS4	Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations
Loeys-Dietz Syndrome Type 4	Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations
Loeys-Dietz Syndrome, Type 4

Orthostatic Intolerance

Mitral Valve Prolapse	Neurocirculatory Asthenia
Mitral Valve Prolapse Syndrome	Irritable Heart
Systolic Click-Murmur Syndrome	Soldiers Heart
Cardiovascular Malfunction Arising From Mental Factors	Cardiovascular Neurosis
Da Costa'S Syndrome	Krishaber'S Disease
Barlow'S Syndrome	Floppy Mitral Valve
Mitral Leaflet Syndrome	Myxomatous Mitral Valve Prolapse
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency	Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
Orthostatic Intolerance Due To Net Deficiency	Pots Due To Net Deficiency
OI	Intolerance, Orthostatic
Mitral Valve Prolapse, Familial, X-Linked	Ballooning Mitral Valve
Barlow Syndrome	Flail Mitral Leaflet
Myxomatous Mitral Valve	Mitral Valve Prolapse-Click Syndrome
Prolapsing Mitral Valve Leaflet Syndrome	Billowing Mitral Valve Leaflet
Posterior Mitral Leaflet Deformity	Ballooning Posterior Leaflet Syndrome
Blue Valve Syndrome	Floppy Mitral Valve Syndrome
Mitral Valvular Prolapse	Systolic Click Syndrome

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa	Foramen Ovale Patent
Ostium Secundum Atrial Septal Defect	Atrial Septal Defect, Ostium Secundum Type
Foramen Ovale, Patent	Defect, Patent Or Persistent, Ostium Secundum
Ostium Secundum Type Atrial Septal Defect	Persistent Ostium Secundum
Asd Ostium Secundum Type	Ostium Secundum Asd
Osasd	Asd, Ostium Secundum Type
Pfo - [Patent Foramen Ovale]	Open Foramen Ovale
Open Oval Foramen	Persistent Foramen Ovale
Secundum Atrial Septal Defect

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01308	B3GAT3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	B3GAT3	VGNC	VGNC:68973
Rattus norvegicus	B3GAT3	RGD	RGD:1311968
Bos taurus	B3GAT3	VGNC	VGNC:26378
Macaca mulatta	B3GAT3	VGNC	VGNC:70208
Mus musculus	B3GAT3	MGD	MGI:1919977
Canis familiaris	B3GAT3	VGNC	VGNC:38339
Others	B3GAT3	NCBI

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