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B3GAT3 Gene

protein-coding   GIFtS: 62
GCID: GC11M062429

Beta-1,3-Glucuronyltransferase 3 (Glucuronosyltransferase...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Beta-1,3-Glucuronyltransferase 3 (Glucuronosyltransferase I)1 2     Sqv-8-Like Protein2
UDP-GlcUA:Gal Beta-1,3-Gal-R Glucuronyltransferase2 3     GlcAT-I3
EC 2.4.1.1353 8     GlcUAT-I3
GLCATI2 5     Beta-1,3-Glucuronyltransferase 33
Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 32     Glucuronosyltransferase I3
glcUAT-I2     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for B3GAT3 Gene:
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)

GeneCards Summary for B3GAT3 Gene:
B3GAT3 (beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)) is a protein-coding gene. Diseases associated with B3GAT3 include morquio syndrome b, and multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects. GO annotations related to this gene include galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity and manganese ion binding. An important paralog of this gene is B3GAT1.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   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 plasmidB3GAT3 promoter sequence
   Search Chromatin IP Primers for B3GAT3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for B3GAT3 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn300
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for B3GAT3 (O94766)
     ELFEEMR  PRGVEQRN  VWHTRTEK  VWPVGLVGG 


    See B3GAT3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001275650.1  NP_001275651.1  NP_001275652.1  NP_036332.2  

    ENSEMBL proteins: 
     ENSP00000265471   ENSP00000431359   ENSP00000432604   ENSP00000432474   ENSP00000432854  
    Reactome Protein details: O94766

    B3GAT3 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    B3GAT: Beta-1,3-glucuronyltransferases

    1 InterPro protein domain:
     IPR005027 Glyco_trans_43

    Graphical View of Domain Structure for InterPro Entry O94766

    ProtoNet protein and cluster: O94766

    1 Blocks protein domain: IPB005027 Glycosyl transferase

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


    B3GAT3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015018galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity NAS10842173
    GO:0015020glucuronosyltransferase activity IMP--
    GO:0030145manganese ion binding ----
    GO:0046872metal ion binding IEA--
         
    B3GAT3 for ontologies           About GeneDecksing


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    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 plasmidB3GAT3 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    B3GA3_HUMAN, O94766: Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatus, cis-Golgi
    network
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    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 component of membrane NAS10842173

    B3GAT3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for B3GAT3 About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS II - Hunter syndrome0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    Glycosaminoglycan metabolism0.45
    MPS IV - Morquio syndrome A0.45
    MPS IV - Morquio syndrome B0.45
    Mucopolysaccharidoses0.45
    MPS VII - Sly syndrome0.45
    2Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate0.00
    A tetrasaccharide linker sequence is required for GAG synthesis0.51
    3heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    4Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    5dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis
    glycoaminoglycan-protein linkage region biosynthesis0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for B3GAT3
        A tetrasaccharide linker sequence is required for GAG synthesis


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

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


    B3GAT3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B3GAT3
    Interactions:

        Search GeneGlobe Interaction Network for B3GAT3

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

    Selected 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): Selected biological process terms (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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for B3GAT3 (B3GA3)

    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 inferred 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)



    B3GAT3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for B3GAT3 gene (4 alternative transcripts): 
    NM_001288721.1  NM_001288722.1  NM_001288723.1  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
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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
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 90):

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

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    B3GAT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGACCCCCT
    B3GAT3 Expression
    About this image


    B3GAT3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    B3GAT3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B3GAT3 Protein Expression

    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 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for B3GAT3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3gat31 , 5 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase more1, 5 88.16(n)1
    95.82(a)1
      19 (6.03 cM)5
    727271  NM_024256.21  NP_077218.11 
     89203935 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    44(a)
    many ↔ many
    1(80085285-80088616) ENSGALG00000015075
    lizard
    (Anolis carolinensis)
    Reptilia B3GAT36
    beta-1,3-glucuronyltransferase 3 (glucuronosyltran...
    66(a)
    1 ↔ 1
    GL344502.1(15860-26891)
    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 63.39(n)
    60.43(a)
      192334  NM_001015059.1  NP_001015059.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH050573
    GlcAT-I1
    GlcAT-I1 44(a)
    (best of 3)3
    55.56(n)1
    53.57(a)1
      4B13
    2519001  NM_167003.21  NP_726910.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sqv-81 , 3 sqv-81 46(a)
    (best of 3)3
    51.77(n)1
    50.21(a)1
      II(9647848-9649134)3
    1745171  NM_063675.41  NP_496076.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for B3GAT3 (see all 231)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666244
    Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD)4--see VAR_0666242 R Q mis40--------
    rs1839413431,2
    C--62302594(+) AGGAGG/TATCTA 1 -- ds50010--------
    rs2022104501,2
    --62302625(+) AGCTTC/GGGGTG 1 -- ds50010--------
    rs1995652481,2
    --62302648(+) GGATGA/GACAAG 1 -- ds50010--------
    rs1476842831,2
    --62302866(+) ATAGAC/TTCAAT 1 -- ds50010--------
    rs1169421331,2
    C--62302996(+) CAGCAA/GCAGGA 1 -- ds50011Minor allele frequency- G:0.01EA 120
    rs1860294931,2
    C--62303038(+) CCCAAC/TGTAAG 1 -- ds50010--------
    rs563641501,2
    C--62303121(+) TCAGGC/TGGGAA 1 -- ut310--------
    rs1491438541,2
    C--62303189(+) AGTTAC/TTCAGC 1 -- ut310--------
    rs10464291,2
    C--62303237(-) CCTGTC/TTAGGG 1 -- ut31 ese33Minor allele frequency- T:0.00MN NA 188

    HapMap Linkage Disequilibrium report for B3GAT3 (62382768 - 62389647 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for B3GAT3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897622CNV Loss21882294
    nsv825939CNV Gain20364138
    nsv832182CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): B3GAT3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing B3GAT3
    DNA2.0 Custom Variant and Variant Library Synthesis for B3GAT3

    (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.)
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    OMIM gene information: 606374   
    OMIM disorders: 245600  
    UniProtKB/Swiss-Prot: B3GA3_HUMAN, O94766
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 17 diseases for B3GAT3:    
    About MalaCards
    morquio syndrome b    multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects    sly syndrome    congenital heart defect
    mucopolysaccharidoses    mitral valve prolapse    autosomal recessive disease    short stature
    familial hypertrophic cardiomyopathy    skeletal dysplasias    osteoarthritis    hypertrophic cardiomyopathy
    myopathy    malaria    multiple myeloma    myeloma
    cerebritis


    B3GAT3 for disorders           About GeneDecksing


    Export disorders for B3GAT3 gene to outside databases

    (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)
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    PubMed articles for B3GAT3 gene, integrated from 10 sources (see all 32):
    (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. (J. Biol. Chem. 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. (J. Biol. Chem. 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. (FEBS Lett. 1999)
    4. Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I. (PubMed id 10946001)1, 2, 9 Pedersen L.C....Negishi M. (J. Biol. Chem. 2000)
    5. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. (PubMed id 21763480)1, 2 Baasanjav S.... Hoffmann K. (Am. J. Hum. Genet. 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. (J. Biol. Chem. 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Glycobiology 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for B3GAT3 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GAT3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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