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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 linka... See more...
Aliases for B3GAT3 Gene
Aliases for B3GAT3 Gene
External Ids for B3GAT3 Gene
- HGNC: 923
- Entrez Gene: 26229
- Ensembl: ENSG00000149541
- OMIM: 606374
- UniProtKB: O94766
Previous GeneCards Identifiers for B3GAT3 Gene
- GC11M064895
- GC11M063958
- GC11M062158
- GC11M062139
- GC11M062429
- GC11M058711
Summaries 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) is a Protein Coding gene. Diseases associated with B3GAT3 include Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects and Retinitis Pigmentosa. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include glucuronosyltransferase activity and galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. An important paralog of this gene is B3GAT1.
UniProtKB/Swiss-Prot Summary for B3GAT3 Gene
-
Glycosaminoglycans biosynthesis (PubMed:25893793). 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. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).
Additional gene information for B3GAT3 Gene
- Monarch Initiative
- Search for B3GAT3 at DataMed
- Search for B3GAT3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B3GAT3 Gene
Genomics for B3GAT3 Gene
GeneHancer (GH) Regulatory Elements for B3GAT3 Gene
Promoters and enhancers for B3GAT3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around B3GAT3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the B3GAT3 gene promoter:
-
- CREB
- deltaCREB
- GATA-1
- GATA-2
- Max1
- Sp1
- YY1
Genomic Locations for B3GAT3 Gene
Genomic Locations for B3GAT3 Gene
- chr11:62,615,296-62,622,175
- (GRCh38/hg38)
- Size:
- 6,880 bases
- Orientation:
- Minus strand
- chr11:62,382,768-62,389,647
- (GRCh37/hg19)
- Size:
- 6,880 bases
- Orientation:
- Minus strand
Genomic View for B3GAT3 Gene
Genes around B3GAT3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q12.3 by HGNC
- 11q12.3 by Entrez Gene
- 11q12.3 by Ensembl
B3GAT3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for B3GAT3 Gene
Proteins for B3GAT3 Gene
-
Protein details for B3GAT3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O94766-B3GA3_HUMAN
- Recommended name:
- Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
- Protein Accession:
- O94766
- B7ZAB3
- Q96I06
- Q9UEP0
Protein attributes for B3GAT3 Gene
- Size:
- 335 amino acids
- Molecular mass:
- 37122 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Homodimer; disulfide-linked. Interacts with PXYLP1; the interaction increases the 2-phosphoxylose phosphatase activity of PXYLP1 during completion of linkage region formation in a B3GAT3-mediated manner.
Protein Expression for B3GAT3 Gene
Selected DME Specific Peptides for B3GAT3 Gene
- O94766:
-
- PRGVEQRN
- VWPVGLVGG
- ELFEEMR
- VWHTRTEK
Post-translational modifications for B3GAT3 Gene
- N-glycosylated.
-
Glycosylation at Asn300
- NX_O94766 (NX_O94766-1)
- Modification sites at PhosphoSitePlus
Other Protein References for B3GAT3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-B3GAT3 Antibody
- Creative Diagnostics Anti-B3GAT3 (aa 300-329) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for B3GAT3
- Novus Biologicals Antibodies for B3GAT3
- Invitrogen Antibodies for B3GAT3 (AFLGC-B3GAT3)
-
Santa Cruz Biotechnology (SCBT) Antibodies for B3GAT3
- Sino Biological Antibodies for B3GAT3
Protein Products
- G Biosciences Human B3GAT3/GLCATI, Liquid
- Atlas Antibodies PrEST Antigen B3GAT3
-
Creative Biomart
- Recombinant Human B3GAT3, His-tagged (B3GAT3-228H)
- Recombinant Human B3GAT3, His-tagged (B3GAT3-7603H)
- Recombinant Human B3GAT3 Protein, Met & His-tagged
- Recombinant Human B3GAT3 293 Cell Lysate
- Recombinant Human B3GAT3 protein, GST-tagged (B3GAT3-016H)
- Recombinant Human B3GAT3 protein, GST-tagged (B3GAT3-017H)
-
OriGene Purified Proteins for B3GAT3
- Search Origene for MassSpec and Protein Over-expression Lysates for B3GAT3
- Origene Custom Protein Services for B3GAT3
- Sino Biological Recombinant Proteins for B3GAT3
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for B3GAT3
-
ProSci Proteins for B3GAT3
-
Abcam proteins for B3GAT3
Assay Products
- Novus Biologicals ELISA Kits for B3GAT3
Domains & Families for B3GAT3 Gene
Gene Families for B3GAT3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for B3GAT3 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for B3GAT3 Gene
- GenScript: Design optimal peptide antigens:
-
- UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase (B3GA3_HUMAN)
- cDNA, FLJ79127, highly similar to Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC 2.4.1.135) (B7ZAB3_HUMAN)
- B3GAT3 protein (Q5U676_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O94766- Family:
-
- Belongs to the glycosyltransferase 43 family.
Function for B3GAT3 Gene
Molecular function for B3GAT3 Gene
- UniProtKB/Swiss-Prot Function:
- Glycosaminoglycans biosynthesis (PubMed:25893793). 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. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:24168, Rhea:RHEA-COMP:12571, Rhea:RHEA-COMP:12573, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132090, ChEBI:CHEBI:132093; EC=2.4.1.135; Evidence=. ;.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by EDTA.
Enzyme Numbers (IUBMB) for B3GAT3 Gene
Phenotypes From GWAS Catalog for B3GAT3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 24425863 |
| GO:0015018 | galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity | IEA,NAS | 10842173 |
| GO:0015020 | glucuronosyltransferase activity | IMP | 21763480 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for B3GAT3 Gene
- MGI mutant phenotypes for B3GAT3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for B3GAT3:
-
- Decreased viability ratio
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased hepcidin::fluc mRNA expression
- shRNA abundance <= 50%
- Decreased shRNA abundance
Animal Models for B3GAT3 Gene
- MGI Knock Outs for B3GAT3:
-
- B3gat3 B3gat3<tm1Hkit>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for B3GAT3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B3GAT3
- genomics-online: gRNA clones - Search results for available B3GAT3 gene related products
- Applied Biological Materials (abm): CRISPR Clones for B3GAT3 - Select products 50% OFF >
- * B3GAT3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * B3GAT3 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for B3GAT3
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for B3GAT3
- Browse OriGene Inhibitory RNA Products For B3GAT3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GAT3
- genomics-online: shRNA clones - Search results for available B3GAT3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for B3GAT3
- Addgene plasmids for B3GAT3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B3GAT3
- genomics-online: cdna clones - Search results for available B3GAT3 gene related products
- orf clones - Search results for available B3GAT3 gene related products
- Applied Biological Materials (abm): Clones for B3GAT3 - Select products 50% OFF >
- * B3GAT3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * B3GAT3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for B3GAT3
No data available for miRNA , Transcription Factor Targets and HOMER Transcription for B3GAT3 Gene
Localization for B3GAT3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for B3GAT3 Gene
- Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatus, cis-Golgi network.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| extracellular | 2 |
| plasma membrane | 1 |
| endoplasmic reticulum | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IEA,IDA | 21763480 |
| GO:0005801 | cis-Golgi network | IDA | 21763480 |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | NAS,IEA | 10842173 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for B3GAT3 Gene
Pathways & Interactions for B3GAT3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chondroitin sulfate/dermatan sulfate metabolism | ||
| 2 | Glycosaminoglycan metabolism | ||
| 3 | heparan sulfate biosynthesis | ||
| 4 | Metabolism |
.40
|
|
Pathways by source for B3GAT3 Gene
4 BioSystems pathways for B3GAT3 Gene
UniProtKB/Swiss-Prot O94766-B3GA3_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for B3GAT3 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| B3GALT6 | ||
| CKAP4 | ||
| CSGALNACT2 | ||
| DNAAF5 | ||
| GAA |
GPS-Prot Interaction Network for B3GAT3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006024 | glycosaminoglycan biosynthetic process | NAS | 10842173 |
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0015012 | heparan sulfate proteoglycan biosynthetic process | IMP,IDA | 25893793 |
| GO:0030203 | glycosaminoglycan metabolic process | TAS | -- |
| GO:0043085 | positive regulation of catalytic activity | IDA | 24425863 |
No data available for SIGNOR curated interactions for B3GAT3 Gene
Drugs & Compounds for B3GAT3 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| heparan sulfate |
|
9050-30-0 |
Drug Products
- G Biosciences Human B3GAT3/GLCATI, Liquid
- Atlas Antibodies PrEST Antigen B3GAT3
-
Creative Biomart
- Recombinant Human B3GAT3, His-tagged (B3GAT3-228H)
- Recombinant Human B3GAT3, His-tagged (B3GAT3-7603H)
- Recombinant Human B3GAT3 Protein, Met & His-tagged
- Recombinant Human B3GAT3 293 Cell Lysate
- Recombinant Human B3GAT3 protein, GST-tagged (B3GAT3-016H)
- Recombinant Human B3GAT3 protein, GST-tagged (B3GAT3-017H)
Transcripts for B3GAT3 Gene
mRNA/cDNA for B3GAT3 Gene
- (4) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (400) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000265471 1452 bps (ENST00000265471.9)
- ENST00000531383 2056 bps (ENST00000531383.5)
- ENST00000532585 1534 bps (ENST00000532585.5)
- ENST00000534026 1120 bps (ENST00000534026.5)
- ENST00000533303 576 bps (ENST00000533303.1)
CRISPR Products
-
OriGene CRISPR knockouts for B3GAT3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B3GAT3
- genomics-online: gRNA clones - Search results for available B3GAT3 gene related products
- Applied Biological Materials (abm): CRISPR Clones for B3GAT3 - Select products 50% OFF >
- * B3GAT3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * B3GAT3 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for B3GAT3
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for B3GAT3
- Browse OriGene Inhibitory RNA Products For B3GAT3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GAT3
- genomics-online: shRNA clones - Search results for available B3GAT3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for B3GAT3
- Addgene plasmids for B3GAT3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B3GAT3
- genomics-online: cdna clones - Search results for available B3GAT3 gene related products
- orf clones - Search results for available B3GAT3 gene related products
- Applied Biological Materials (abm): Clones for B3GAT3 - Select products 50% OFF >
- * B3GAT3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * B3GAT3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||
| SP7: | - | - | - |
Expression for B3GAT3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
This gene is overexpressed in Nasal epithelium (57.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B3GAT3 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of B3GAT3 Gene:
B3GAT3SOURCE GeneReport for Unigene cluster for B3GAT3 Gene:
Hs.502759mRNA Expression by UniProt/SwissProt for B3GAT3 Gene:
O94766-B3GA3_HUMAN
Tissue specificity:
Ubiquitous (but weakly expressed in all tissues examined).
Evidence on tissue expression from TISSUES for B3GAT3 Gene
- Nervous system(4.7)
- Eye(4.3)
- Liver(4.2)
- Skin(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GAT3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- neck
- nose
- outer ear
- scalp
- skull
- tooth
Thorax:
- aorta
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for B3GAT3
-
OriGene qPCR primer pairs and template standards for B3GAT3
- genomics-online: primer clones - Search results for available B3GAT3 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for B3GAT3 Gene
Orthologs for B3GAT3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | B3GAT3P1 33 |
|
OneToOne | |
| B3GAT3 32 |
|
||||
| dog (Canis familiaris) |
Mammalia | B3GAT3 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | B3GAT3 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | B3gat3 32 |
|
||
| mouse (Mus musculus) |
Mammalia | B3gat3 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | B3GAT3 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | B3GAT3 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 33 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | B3GAT3 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | b3gat3 32 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | b3gat3 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | b3gat3 33 32 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | GlcAT-I 33 32 |
|
ManyToMany | |
| BcDNA:GH05057 34 |
|
|
|||
| EG:EG0007.5 34 |
|
|
|||
| CG3881 34 |
|
|
|||
| GlcAT-S 33 |
|
ManyToMany | |||
| GlcAT-P 33 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002801 32 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | sqv-8 33 34 32 |
|
ManyToMany | |
| C54C8.5 34 |
|
|
|||
| glct-1 33 |
|
ManyToMany | |||
| E03H4.12 34 |
|
|
|||
| glct-4 33 |
|
ManyToMany | |||
| glct-3 33 |
|
ManyToMany | |||
| glct-5 33 |
|
ManyToMany | |||
| glct-6 33 |
|
ManyToMany | |||
| glct-2 33 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7425 33 |
|
ManyToMany | |
| CSA.7080 33 |
|
ManyToMany | |||
| CSA.7081 33 |
|
ManyToMany |
- Species where no ortholog for B3GAT3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for B3GAT3 Gene
- ENSEMBL:
- Gene Tree for B3GAT3 (if available)
- TreeFam:
- Gene Tree for B3GAT3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for B3GAT3: view image
Paralogs for B3GAT3 Gene
(4) SIMAP similar genes for B3GAT3 Gene using alignment to 6 proteins:
- B3GA3_HUMAN
- B7ZAB3_HUMAN
- E9PNA1_HUMAN
- E9PQ60_HUMAN
- G3V150_HUMAN
- Q5U676_HUMAN
Pseudogenes.org Pseudogenes for B3GAT3 Gene
Variants for B3GAT3 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112223093 | benign, Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 62,616,594(-) | G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs140755387 | uncertain-significance, Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 62,617,051(-) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs147684283 | uncertain-significance, Retinitis Pigmentosa, Dominant | 62,615,094(-) | C/T | downstream_transcript_variant | |
| rs1565074659 | uncertain-significance, Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 62,615,754(-) | C/G | 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs202210450 | uncertain-significance, Retinitis Pigmentosa, Dominant | 62,614,853(-) | G/A/C | downstream_transcript_variant |
Residual Variation Intolerance Score:
29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.76;
33.36% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for B3GAT3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GAT3 Gene
Disorders for B3GAT3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects |
|
|
| retinitis pigmentosa |
|
|
Search B3GAT3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
B3GA3_HUMAN- Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [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. {ECO:0000269 PubMed:21763480, ECO:0000269 PubMed:24668659, ECO:0000269 PubMed:25893793, ECO:0000269 PubMed:26086840}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for B3GAT3
No data available for Genatlas for B3GAT3 Gene
Publications for B3GAT3 Gene
- Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues. (PMID: 10842173) Ouzzine M … Fournel-Gigleux S (The Journal of biological chemistry 2000) 3 4 23 56
- Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I. (PMID: 10946001) Pedersen LC … Negishi M (The Journal of biological chemistry 2000) 3 4 23 56
- Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 10526176) Tone Y … Sugahara K (FEBS letters 1999) 3 4 23 56
- Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 9506957) Kitagawa H … Sugahara K (The Journal of biological chemistry 1998) 2 3 4 56
- Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. (PMID: 25893793) Budde BS … Kennerknecht I (Human genetics 2015) 3 4 56
ExternalLinks
Products for B3GAT3 Gene
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