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

Gene ID: 26229, updated on 6-Jan-2019

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
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

Genomic context

See B3GAT3 in Genome Data Viewer
Location:
11q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (62615296..62622175, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62382768..62389647, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene metastasis associated 1 family member 2 Neighboring gene EMAP like 3 Neighboring gene retinal outer segment membrane protein 1 Neighboring gene glucosidase II alpha subunit Neighboring gene integrator complex subunit 5

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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
NP_001275651.1
NP_001275652.1
NP_036332.2

NCBI Reference Sequences (RefSeq)

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

  1. NG_031863.1 RefSeqGene

    Range
    5001..11880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001288721.1NP_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, AP001458, BC019832
    UniProtKB/TrEMBL
    Q5U676
    Conserved Domains (1) summary
    cd00218
    Location:68306
    GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis
  2. NM_001288722.1NP_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, AP001458, BC019832
    Consensus CDS
    CCDS76417.1
    UniProtKB/TrEMBL
    G3V150, Q5U676
    Related
    ENSP00000431359.1, ENST00000531383.5
    Conserved Domains (1) summary
    cd00218
    Location:75312
    GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis
  3. NM_001288723.1NP_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, AP001458, BC019832
    Consensus CDS
    CCDS76418.1
    UniProtKB/Swiss-Prot
    O94766
    UniProtKB/TrEMBL
    Q5U676
    Related
    ENSP00000432474.1, ENST00000534026.5
    Conserved Domains (1) summary
    cd00218
    Location:75303
    GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis
  4. NM_012200.4NP_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
    O94766
    Related
    ENSP00000265471.5, ENST00000265471.9
    Conserved Domains (1) summary
    cd00218
    Location:75313
    GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis

RNA

  1. NR_109991.1 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, AP001458, BC019832

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    62615296..62622175 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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