B3GAT3 beta-1,3-glucuronyltransferase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B3GAT3provided by HGNC
Official Full Name: beta-1,3-glucuronyltransferase 3provided by HGNC
Primary source: HGNC:HGNC:923
See related: Ensembl:ENSG00000149541 MIM:606374; AllianceGenome:HGNC:923
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: JDSCD; GLCATI; glcUAT-I
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]
Expression: Ubiquitous expression in brain (RPKM 10.1), lymph node (RPKM 9.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62615296..62621986, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62604744..62611441, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62382768..62389458, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
Title: Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
We identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome.
Title: B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart.
Title: Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations.
Title: Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis
Title: 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis.
A comparison of substrate specificity of beta1,3-glucuronosyltransferases revealed that GlcAT-I was selective toward Galbeta1,3Gal, whereas GlcAT-P presented a broader profile.
Title: Molecular basis for acceptor substrate specificity of the human beta1,3-glucuronosyltransferases GlcAT-I and GlcAT-P involved in glycosaminoglycan and HNK-1 carbohydrate epitope biosynthesis, respectively.
GlcAT-I has a role in controlling and reversing articular cartilage defects
Title: Stimulation of proteoglycan synthesis by glucuronosyltransferase-I gene delivery: a strategy to promote cartilage repair.
we evaluated the consequences of C-4/C-6 sulfation of Galbeta1-3Gal (Gal2-Gal1) on the activity and specificity of beta1,3-glucuronosyltransferase I
Title: Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.
functional glycosyltransferase signature sequence of the human beta 1,3-glucuronosyltransferase is a XDD motif
Title: The functional glycosyltransferase signature sequence of the human beta 1,3-glucuronosyltransferase is a XDD motif.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Larsen-like syndrome, B3GAT3 type MedGen: C3278404 OMIM: 245600 GeneReviews: Hypertrophic Cardiomyopathy Overview, Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2278 (e-PCR)
- UniSTS:473906

B3GAT3_9473 (e-PCR)
- UniSTS:468299

WI-9219 (e-PCR)
- UniSTS:52047

B3GAT3 (e-PCR)
- UniSTS:504717

ROM1 (e-PCR)
- UniSTS:32750

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucuronosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in chondroitin sulfate proteoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chondroitin sulfate proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in chondroitin sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dermatan sulfate proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dermatan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosaminoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycosaminoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosaminoglycan biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within heparan sulfate proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of catalytic activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cis-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3

Names: Sqv-8-like protein; UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)

NP_001275650.1

EC 2.4.1.135

NP_001275651.1

EC 2.4.1.135

NP_001275652.1

EC 2.4.1.135

NP_036332.2

EC 2.4.1.135

XP_047282707.1

EC 2.4.1.135

XP_054224368.1

EC 2.4.1.135

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031863.1 RefSeqGene

Range

5190..11880

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001288721.2 → NP_001275650.1 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 2

See identical proteins and their annotated locations for NP_001275650.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK075166, AK310200, BC019832

UniProtKB/TrEMBL

Q5U676

Conserved Domains (1) summary

cd00218
Location:68 → 306

GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis
NM_001288722.2 → NP_001275651.1 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 3

See identical proteins and their annotated locations for NP_001275651.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in its 3' coding region, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK075166, BC019832

Consensus CDS

CCDS76417.1

UniProtKB/TrEMBL

B4DNL8, G3V150

Related

ENSP00000431359.1, ENST00000531383.5

Conserved Domains (1) summary

cd00218
Location:75 → 312

GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis
NM_001288723.2 → NP_001275652.1 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 4

See identical proteins and their annotated locations for NP_001275652.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in its 3' coding region, compared to variant 1. The encoded isoform (4) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK075166, AK316228, BC019832

Consensus CDS

CCDS76418.1

UniProtKB/TrEMBL

B4DNL8

Related

ENSP00000432474.1, ENST00000534026.5

Conserved Domains (1) summary

cd00218
Location:75 → 303

GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis
NM_012200.4 → NP_036332.2 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 1

See identical proteins and their annotated locations for NP_036332.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AB009598, AP001458, BC007906

Consensus CDS

CCDS8025.1

UniProtKB/Swiss-Prot

B7ZAB3, O94766, Q96I06, Q9UEP0

UniProtKB/TrEMBL

B4DNL8

Related

ENSP00000265471.5, ENST00000265471.10

Conserved Domains (1) summary

cd00218
Location:75 → 313

GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis

RNA

NR_109991.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in the 5'-terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AK075166, BC019832