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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

B3GAT3 Gene

protein-coding   GIFtS: 57
GCID: GC11M062429

beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase...
 Explore 4 diseases affiliated with
B3GAT3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for B3GAT3    

Aliases
for B3GAT3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Beta-1,3-Glucuronyltransferase 3 (Glucuronosyltransferase I)1 2     GlcUAT-I3
GlcAT-I1 3     Sqv-8-Like Protein2
UDP-GlcUA:Gal Beta-1,3-Gal-R Glucuronyltransferase2 3     GlcUAT-I3
EC 2.4.1.1353 8     Beta-1,3-Glucuronyltransferase 33
GLCATI2 5     Glucuronosyltransferase I3
Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 32     

External Ids:    HGNC: 9231   Entrez Gene: 262292   Ensembl: ENSG000001495417   OMIM: 6063745   UniProtKB: O947663   

Export aliases for B3GAT3 gene to outside databases

Previous GC identifers: GC11M064895 GC11M063958 GC11M062633 GC11M062158 GC11M062139 GC11M058711


Summaries
for B3GAT3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for B3GAT3:
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. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: B3GA3_HUMAN, O94766
Function: Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present in heparan sulfate
and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA)
to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the
glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate
epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible
incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and
Galbeta1-4Glc

Gene Wiki entry for B3GAT3


Genomic Views
for B3GAT3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B3GAT3 gene promoter:
         Max1   CREB   Sp1   deltaCREB   GATA-2   YY1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: B3GAT3 promoter sequence
   Search SABiosciences Chromatin IP Primers for B3GAT3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B3GAT3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12.3   Ensembl cytogenetic band:  11q12.3   HGNC cytogenetic band: 11q12

B3GAT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GAT3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M062429:  view genomic region     (about GC identifiers)

Start:
 62,382,768 bp from pter      End:
 62,389,647 bp from pter
Size:
 6,880 bases      Orientation:
 minus strand

Proteins
for B3GAT3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: B3GA3_HUMAN, O94766 (See protein sequence)
Recommended Name: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3  
Size: 335 amino acids; 37122 Da
Cofactor: Manganese
Subunit: Homodimer; disulfide-linked
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatus, cis-Golgi
network
3 PDB 3D structures from and Proteopedia for B3GAT3:
1FGG (3D)        1KWS (3D)        3CU0 (3D)    
Secondary accessions: Q96I06 Q9UEP0

Explore the universe of human proteins at neXtProt for B3GAT3: NX_O94766

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94766

    • 4 DME Specific Peptides for B3GAT3 (O94766)
     ELFEEMR  PRGVEQRN  VWHTRTEK  VWPVGLVGG 

    B3GAT3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036332.2  
    ENSEMBL proteins: 
     ENSP00000265471   ENSP00000431359   ENSP00000432604   ENSP00000432474   ENSP00000432854  
    Reactome Protein details: O94766
    Human Recombinant Protein Products: 
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    Novus Biologicals B3GAT3 Proteins
    Novus Biologicals B3GAT3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus IDA--
    GO:0005801cis-Golgi network IDA--
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS10842173


    B3GAT3 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for B3GAT3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    B3GAT3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005027 Glyco_trans_43

    Graphical View of Domain Structure for InterPro Entry O94766

    ProtoNet protein and cluster: O94766

    1 Blocks protein family: IPB005027 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GA3_HUMAN, O94766
    Similarity: Belongs to the glycosyltransferase 43 family


    Function
    for B3GAT3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: B3GA3_HUMAN, O94766
    Function: Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present in heparan sulfate
    and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA)
    to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the
    glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate
    epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible
    incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and
    Galbeta1-4Glc
    Catalytic activity: UDP-glucuronate + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein = UDP +
    3-beta-D-glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein
    Enzyme regulation: Inhibited by EDTA

    Enzyme Number (IUBMB): EC 2.4.1.1351 2

    miRNA
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    8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate B3GAT3 (see all 18):
    hsa-miR-3130-5p hsa-miR-4265 hsa-let-7d hsa-let-7c hsa-miR-4267 hsa-let-7g hsa-let-7a hsa-miR-98
    SwitchGear 3'UTR luciferase reporter plasmid: B3GAT3 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: B3GAT3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat B3GAT3

    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015018galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity NAS10842173
    GO:0015020glucuronosyltransferase activity IMP--
    GO:0030145manganese ion binding NAS--


    B3GAT3 for ontologies           About GeneDecksing



    Pathways & Interactions
    for B3GAT3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/15 pathways (see all 15)
    		MPS VI - Maroteaux-Lamy syndrome1.00
    		MPS IIIA - Sanfilippo syndrome A1.00
    		MPS IIIC - Sanfilippo syndrome C1.00
    		MPS IIID - Sanfilippo syndrome D1.00
    		MPS I - Hurler syndrome1.00
    		MPS IX - Natowicz syndrome1.00
    		Mucopolysaccharidoses1.00
    		MPS II - Hunter syndrome1.00
    2dermatan sulfate biosynthesis
    		dermatan sulfate biosynthesis1.00
    		chondroitin sulfate biosynthesis0.64
    		Glycosaminoglycan biosynthesis - chondroitin sulfate0.73
    		glycoaminoglycan-protein linkage region biosynthesis0.38
    3A tetrasaccharide linker sequence is required for GAG synthesis
    		A tetrasaccharide linker sequence is required for GAG synthesis1.00
    		Chondroitin sulfate/dermatan sulfate metabolism0.54
    4Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    5heparan sulfate biosynthesis
    		heparan sulfate biosynthesis1.00
    		Glycosaminoglycan biosynthesis - heparan sulfate0.83

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4 BioSystems Pathways for B3GAT3 
        glycoaminoglycan-protein linkage region biosynthesis
    chondroitin sulfate biosynthesis
    heparan sulfate biosynthesis
    dermatan sulfate biosynthesis

    5/19        Reactome Pathways for B3GAT3 (see all 19)
        Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    MPS II - Hunter syndrome


    3         Kegg Pathways  (Kegg details for B3GAT3):
        Glycosaminoglycan biosynthesis - chondroitin sulfate
    Glycosaminoglycan biosynthesis - heparan sulfate
    Metabolic pathways

    UniProtKB/Swiss-Prot: B3GA3_HUMAN, O94766
    Pathway: Protein modification; protein glycosylation


    B3GAT3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B3GAT3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for B3GAT3 (ENSP000002654714) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GALT6ENSP000003684964STRING: ENSP00000368496
    CSGALNACT1ENSP000003108914STRING: ENSP00000310891
    CSGALNACT2ENSP000003635904STRING: ENSP00000363590
    EXTL2ENSP000003591314STRING: ENSP00000359131
    EXTL3ENSP000002205624STRING: ENSP00000220562
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process NAS10842173
    GO:0006486protein glycosylation IEA--
    GO:0015012heparan sulfate proteoglycan biosynthetic process IDA--
    GO:0030203glycosaminoglycan metabolic process TAS--


    B3GAT3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for B3GAT3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    B3GAT3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for B3GAT3

    5 HMDB Compounds for B3GAT3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChondroitinChondroitin-D-glucuronate (see all 5)9007-27-6--
    Heparan sulfateHHS 5 (see all 13)9050-30-0--
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate glucuronic acidUDP glucuronate (see all 41)2616-64-0--

    2 DrugBank Compounds for B3GAT3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Udp-Glucuronic Acid-- --target--17139284 17016423
    Uridine-5'-Diphosphate-- 58-98-0target--17139284 17016423

    9 Novoseek chemical compound relationships for B3GAT3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycosaminoglycan 80.8 10 15601778 (4), 11535117 (1), 15522873 (1), 16815917 (1) (see all 5)
    udp glucuronic acid 78.7 3 16815917 (1), 10946001 (1)
    tetrasaccharide 78.7 2 12794088 (1), 16807373 (1)
    gal 1 70.2 5 17567734 (2), 15522873 (1)
    glucuronic acid 69.2 3 16300963 (1), 10842173 (1), 10946001 (1)
    heparan sulfate 55.9 1 16807373 (1)
    ribose 55.2 1 12794088 (1)
    galactose 36 2 16300963 (1)
    alanine 17.4 1 12794088 (1)

    Search CenterWatch for drugs/clinical trials and news about B3GAT3 / B3GA3 

    Transcripts
    for B3GAT3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for B3GAT3 gene: 
    NM_012200.3  

    Unigene Cluster for B3GAT3:

    Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
    Hs.502759  [show with all ESTs]
    Unigene Representative Sequence: AK075166
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265471(uc001ntx.3 uc001ntw.3 uc009ynz.3) ENST00000531383(uc010rlz.2)
    ENST00000532585 ENST00000534026 ENST00000533303 ENST00000534715

    miRNA
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    hsa-miR-3130-5p hsa-miR-4265 hsa-let-7d hsa-let-7c hsa-miR-4267 hsa-let-7g hsa-let-7a hsa-miR-98
    SwitchGear 3'UTR luciferase reporter plasmid: B3GAT3 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AB009598.1 AJ005865.1 AK075166.1 AK297970.1 AK310200.1 AK316228.1 BC007906.2 BC011173.1 
    BC019832.1 BC071961.1 

    11 DOTS entries:

    DT.97818666  DT.97855455  DT.97855456  DT.100038261  DT.101977214  DT.120727985  DT.100796527  DT.120727994 
    DT.120858477  DT.120858512  DT.91858934 

    24/90 AceView cDNA sequences (see all 90):

    BM675957 BF509647 BM673426 BM726069 BQ012133 BM728084 BF514497 CD364443 
    BU501433 BM055157 AI198078 BF223289 CK904815 CK904816 AL577678 CD369583 
    BM707304 AW268136 BG394975 AW236575 CD106839 AL578024 BM712432 AL536981 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for B3GAT3 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:                                                                                -         
    SP4:                                                                                          
    SP5:                          -                                                               


    ECgene alternative splicing isoforms for B3GAT3

    Expression
    for B3GAT3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    B3GAT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGACCCCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See B3GAT3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B3GAT3

    SOURCE GeneReport for Unigene cluster: Hs.502759

    UniProtKB/Swiss-Prot: B3GA3_HUMAN, O94766
    Tissue specificity: Ubiquitous (but weakly expressed in all tissues examined)

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    Orthologs
    for B3GAT3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for B3GAT3 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia B3GAT36
    		 --
    		 67(a)
    		 1 ↔ 1
    		 GL344502.1(17874-26891)
    African clawed frog
    (Xenopus laevis)    		 Amphibia b3gat32 glucuronyltransferase I 71.36(n)    AJ557582.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii b3gat31 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase more 63.8(n)
    60.43(a)    		   192334  NM_001015059.1  NP_001015059.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta BcDNA:GH050573
    GlcAT-I1    		 CG32775-PA1 44(a)
    (best of 3)3
    55.51(n)1
    53.15(a)1    		   4B13
    2519001  NM_167003.21  NP_726910.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea sqv-81 , 3 Protein SQV-81 46(a)
    (best of 3)3
    51.24(n)1
    49.17(a)1    		   II(9647848-9649134)3
    1745171  NM_063675.31  NP_496076.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons IRX9-L6
    IRX96
    (see all 4)    		 nucleotide-diphospho-sugar transferase domain-cont...
    nucleotide-diphospho-sugar transferases-like prote...
    (see all 4)    		 20(a)
    16(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 1(9603178-9606101)
    2(15587394-15589257)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 10)    		 glycosyltransferase family 43 protein, putative, e...
    glycosyltransferase family 43 protein, putative, e...
    (see all 10)    		 23(a)
    19(a)
    (see all 10)    		 many ↔ many
    many ↔ many
    (see all 10)    		 10(7514938-7519076)
    7(29564832-29570722)


    ENSEMBL Gene Tree for B3GAT3 (if available)
    TreeFam Gene Tree for B3GAT3 (if available) 

    Paralogs
    for B3GAT3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B3GAT3 gene
    B3GAT12  B3GAT22  
    4 SIMAP similar genes for B3GAT3 using alignment to 6 protein entries:     B3GA3_HUMAN (see all proteins):
    B3GAT1    DKFZp547E046    GANAB    B3GAT2

    B3GAT3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for B3GAT3
    PGOHUM00000238247


    Genomic Variants
    for B3GAT3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/154 NCBI SNPs in B3GAT3 are shown (see all 154)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1115876181,2
    		--58712381(+) TGTAAT/CCCCAG 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs122926611,2
    		C,F,--58712412(+) ggcggC/Atcacg 1 -- int13Minor allele frequency- A:0.50WA CSA 6
    rs2008827051,2
    		C,F--58713041(+) GCAAAT/CCCAGC 2 /G syn11Minor allele frequency- C:0.00EU 801
    rs11289671,2
    		C,F,H--58713385(-) GCTGTT/CTGAGG 2 /S /F mis15Minor allele frequency- C:0.01EA NS NA 272
    rs118273171,2
    		C,H--58714909(+) attagC/Ttgggt 1 -- int11Minor allele frequency- T:0.17NA 6
    rs794035171,2
    		F--58715145(+) CCGAAG/CCAGGT 1 -- int11Minor allele frequency- C:0.50NA 4
    rs128089711,2
    		H--58716118(+) gacaaG/Aagttt 1 -- int14Minor allele frequency- A:0.00NS EA 420
    rs112311641,2
    		C,F,H,--58717174(+) CCTTAT/CGACTT 1 -- int17Minor allele frequency- C:0.01NS EA NA 704
    rs112311651,2
    		C,H--58717331(+) GCCTTC/TTGGGC 1 -- int16Minor allele frequency- T:0.00NS EA NA 504
    rs786901801,2
    		C,F,--58717586(+) AGGAGG/CCACTG 1 -- int11Minor allele frequency- C:0.03NA 120

    HapMap Linkage Disequilibrium report for B3GAT3 (62382768 - 62389647 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for B3GAT3
         1 CNV: 4749
    Human Gene Mutation Database (HGMD): B3GAT3

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    Disorders / Diseases
    for B3GAT3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    B3GAT3 for disorders           About GeneDecksing

    OMIM gene information: 606374    OMIM disorders: --

    UniProtKB/Swiss-Prot: B3GA3_HUMAN, O94766
  • Defects in B3GAT3 are the cause of multiple joint dislocations short stature craniofacial dysmorphism and
    • congenital heart defects (JDSSDHD) [MIM:245600]. An autosomal recessive disease characterized by dysmorphic facies,
    bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects

    4 diseases for B3GAT3:    About MalaCards
    mitral valve prolapse    short stature    autosomal recessive disease    osteoarthritis


    Export disorders for B3GAT3 gene to outside databases

    Publications
    for B3GAT3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for B3GAT3 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with B3GAT3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PubMed id 9506957)1, 2, 3 Kitagawa H.... Sugahara K. (1998)
    2. Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues. (PubMed id 10842173)1, 2, 9 Ouzzine M.... Fournel-Gigleux S. (2000)
    3. Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PubMed id 10526176)1, 2, 9 Tone Y.... Sugahara K. (1999)
    4. Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I. (PubMed id 10946001)1, 2, 9 Pedersen L.C....Negishi M. (2000)
    5. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. (PubMed id 21763480)1, 2 Baasanjav S.... Hoffmann K. (2011)
    6. 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. (PubMed id 18400750)1, 2 Tone Y....Sugahara K. (2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway. (PubMed id 9927678)1, 2 Herman T. and Horvitz H.R. (1999)
    9. Stimulation of proteoglycan synthesis by glucuronosyltransferase-I gene delivery: a strategy to promote cartilage repair. (PubMed id 15601778)1, 9 Venkatesan N....Ouzzine M. (2004)
    10. 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. (PubMed id 17567734)1, 9 Fondeur-Gelinotte M....Fournel-Gigleux S. (2007)

    External Searches for B3GAT3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing B3GAT3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26229 HGNC: 923 AceView: B3GAT3 Ensembl:ENSG00000149541 euGenes: HUgn26229
    ECgene: B3GAT3 Kegg: 26229 H-InvDB: B3GAT3

    Other Databases showing B3GAT3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing B3GAT3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for B3GAT3 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    Intellectual Property
    for B3GAT3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for B3GAT3 gene:
    Search GeneIP for patents involving B3GAT3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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