B3GAT3 - beta-1,3-glucuronyltransferase 3 Gene

Also Known as JDSCD; GLCATI; glcUAT-I

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26229

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	References	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	References	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	References	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

B3GAT3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	B3GAT3	O94766	POMK	Homo sapiens	Q9H5K3	Anti Tag CoIP	32707033

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant B3GAT3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7626	B3GAT3 Protein, Human (His)	O94766-1 (E72-V335)	≥ 95%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-177796	TMLB-C16		99.27%	Unkown
HY-RS01308	B3GAT3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18696	B3gat3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25183	B3gat3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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