Details for: B3GAT1

Gene ID: 27087

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: B3GAT1

Ensembl ID: ENSG00000109956

Description: beta-1,3-glucuronyltransferase 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • sncg GABAergic cortical interneuron CL4023015
    CSI 19.39
    rCSI 31.18%
    PRS 83.81
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 10.53
    rCSI 37.89%
    PRS 81.08
  • VIP GABAergic cortical interneuron CL4023016
    CSI 8.49
    rCSI 10.15%
    PRS 82.84
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 8.23
    rCSI 20.01%
    PRS 80.72
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 6.05
    rCSI 10.15%
    PRS 82.88
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 5.34
    rCSI 6.85%
    PRS 89.96
  • Mueller cell CL0000636
    CSI 5.26
    rCSI 12.01%
    PRS 87.81
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 5.08
    rCSI 29.9%
    PRS 83.25
  • glial cell CL0000125
    CSI 4.61
    rCSI 17.56%
    PRS 87.8
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 4.54
    rCSI 8.01%
    PRS 82.19
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 3.69
    rCSI 6.7%
    PRS 88.09
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 3.48
    rCSI 10.89%
    PRS 85.64
  • L6b glutamatergic cortical neuron CL4023038
    CSI 3.23
    rCSI 10.08%
    PRS 83.93
  • cerebral cortex neuron CL0010012
    CSI 3.1
    rCSI 12.62%
    PRS 87.21
  • inhibitory interneuron CL0000498
    CSI 3.03
    rCSI 7%
    PRS 85.85
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.94
    rCSI 6.59%
    PRS 83.11
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.57
    rCSI 3.2%
    PRS 80.62
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.52
    rCSI 3.25%
    PRS 83.8
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 2.17
    rCSI 4.7%
    PRS 83.73
  • glutamatergic neuron CL0000679
    CSI 2.14
    rCSI 4.4%
    PRS 83.28
  • GABAergic neuron CL0000617
    CSI 2.13
    rCSI 7.14%
    PRS 81.9
  • retina horizontal cell CL0000745
    CSI 1.63
    rCSI 2.48%
    PRS 90.44
  • retinal ganglion cell CL0000740
    CSI 1.4
    rCSI 3.1%
    PRS 84.68
  • indirect pathway medium spiny neuron CL4023029
    CSI 1.19
    rCSI 28.66%
    PRS 80.64
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.14
    rCSI 3.76%
    PRS 83.61
  • GABAergic amacrine cell CL4030027
    CSI 1.14
    rCSI 3.91%
    PRS 82.45
  • dopaminergic neuron CL0000700
    CSI 1.13
    rCSI 6.36%
    PRS 84.32
  • central nervous system neuron CL2000029
    CSI 0.98
    rCSI 7.17%
    PRS 86.75
  • Cajal-Retzius cell CL0000695
    CSI 0.57
    rCSI 4.45%
    PRS 93.75
  • peptic cell CL0000155
    CSI 0.39
    rCSI 3.88%
    PRS 95.79
  • ON midget ganglion cell CL4033046
    CSI 0.37
    rCSI 7.5%
    PRS 86.06
  • direct pathway medium spiny neuron CL4023026
    CSI 0.32
    rCSI 7.68%
    PRS 80.59

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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  • Node Color (Target Cell CSI, relative to current network):
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    • High
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  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [B3GAT1](/details-gene/27087) (beta-1,3-glucuronyltransferase 1) is a protein-coding gene located on chromosome 11q25. It encodes a key glycosyltransferase enzyme, also known as GlcAT-P, which catalyzes the transfer of glucuronic acid to a galactose residue. This enzymatic step is critical for the biosynthesis of glycosaminoglycan (GAG) linker regions and, notably, for the creation of the HNK-1 (Human Natural Killer-1) carbohydrate epitope [Link](https://doi.org/10.1006/geno.2000.6152). The HNK-1 epitope is a well-known marker on neural cell adhesion molecules, and its synthesis is vital for nervous system development and function. Consistent with this role, expression data from the **Overall** context show that [B3GAT1](/details-gene/27087) is a highly significant gene in a wide array of neuronal subtypes, including both GABAergic interneurons and glutamatergic projection neurons, suggesting a fundamental role in maintaining neuronal identity and connectivity. The gene is clinically associated with OMIM entry `[151290](https://omim.org/entry/151290)`. ## Cellular Roles and Expression Landscape The expression profile of [B3GAT1](/details-gene/27087) is overwhelmingly localized to the central nervous system, where it acts as a defining marker for numerous neuronal and glial cell populations. In the **Overall** context, it exhibits the highest significance in [sncg GABAergic cortical interneurons](/details-cell/CL4023015) (CSI: 19.39), followed by [L5 extratelencephalic projecting glutamatergic cortical neurons](/details-cell/CL4023041) (CSI: 10.53) and [VIP GABAergic cortical interneurons](/details-cell/CL4023016) (CSI: 8.49). This strong expression pattern extends across both major classes of cortical neurons—inhibitory and excitatory—indicating a broad, yet specialized, function in the cerebral cortex. Its high significance in diverse interneuron types, such as `lamp5`, `caudal ganglionic eminence derived`, and `chandelier pvalb` interneurons, as well as multiple glutamatergic neuron populations ([L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040), [corticothalamic-projecting glutamatergic cortical neuron](/details-cell/CL4023013)), underscores its importance in establishing and maintaining complex cortical circuitry. Furthermore, significant expression in precursor cells like [neuroblast (sensu Vertebrata)](/details-cell/CL0000031) and [differentiation-committed oligodendrocyte precursor](/details-cell/CL4023059), as well as mature [glial cells](/details-cell/CL0000125), suggests a continuous role for [B3GAT1](/details-gene/27087) from neurodevelopment through to mature brain function. ## Pathways and Molecular Function Functionally, [B3GAT1](/details-gene/27087) is a type II transmembrane protein located in the [Golgi membrane](/details-cell/GO:0000139) and [Endoplasmic reticulum membrane](/details-cell/GO:0005789), where it executes its [Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity](/details-cell/GO:0015018). This activity is a cornerstone of several fundamental biosynthetic pathways. According to Reactome, [B3GAT1](/details-gene/27087) is an integral component of [Glycosaminoglycan metabolism](/details-pathway/R-HSA-1630316), particularly in the pathway where [A tetrasaccharide linker sequence is required for gag synthesis](/details-pathway/R-HSA-1971475). This linker is essential for attaching GAG chains, such as those in [Chondroitin sulfate/dermatan sulfate metabolism](/details-pathway/R-HSA-1793185), to core proteins, forming proteoglycans. These molecules are critical constituents of the extracellular matrix and play roles in cell adhesion, migration, and signaling. The gene's involvement in these pathways directly explains its prominent role in the nervous system. The HNK-1 epitope, which [B3GAT1](/details-gene/27087) helps synthesize [Link](https://doi.org/10.1074/jbc.m400622200), is found on key neural proteins and is implicated in synaptic plasticity and memory formation, a connection reinforced by its annotation to the Gene Ontology process of [Visual learning](/details-cell/GO:0008542). ## Research Directions The highly specific and significant expression of [B3GAT1](/details-gene/27087) within the central nervous system, coupled with its defined biochemical function, gives rise to several testable hypotheses regarding its role in neural function and disease. 1. **Hypothesis on Synaptic Plasticity:** Given its role in synthesizing the HNK-1 epitope, which modulates cell adhesion, [B3GAT1](/details-gene/27087) may be a critical regulator of synaptic plasticity. Differential expression levels across distinct neuronal subtypes could fine-tune the adhesive properties of their synapses, thereby contributing to the specificity of neural circuit formation and function. We hypothesize that reduced [B3GAT1](/details-gene/27087) activity would impair long-term potentiation and learning-dependent circuit remodeling. 2. **Hypothesis on Neurodevelopment:** The gene's significant expression in [neuroblasts](/details-cell/CL0000031) and oligodendrocyte precursors suggests a vital role during brain development. We hypothesize that [B3GAT1](/details-gene/27087) is necessary for proper neuronal migration and glial differentiation by mediating cell-matrix interactions through the synthesis of specific proteoglycans. **Experimental Approach:** To test the hypothesis regarding synaptic plasticity, a conditional knockout mouse model could be employed using a Cre-LoxP system with a neuron-specific driver (e.g., *Syn1*-Cre). Inactivation of [B3GAT1](/details-gene/27087) in adult cortical neurons would allow for the study of its role in mature circuits, avoiding developmental confounds. The functional consequences could be assessed using a combination of *in vitro* electrophysiology on brain slices to measure long-term potentiation (LTP) and *in vivo* behavioral assays, such as the Morris water maze or fear conditioning, to evaluate learning and memory. **Therapeutic Potential:** As an enzyme central to GAG biosynthesis in the brain, [B3GAT1](/details-gene/27087) is not a conventional therapeutic target for inhibition, as this would likely cause severe, widespread neurological defects. However, its dysregulation could be implicated in neurodevelopmental or neurodegenerative disorders characterized by abnormal cell adhesion or extracellular matrix integrity. In such cases, a therapeutic strategy might involve gene therapy to restore or augment [B3GAT1](/details-gene/27087) function in targeted cell populations. Its potential as a drug target would depend heavily on future research establishing a causal link between its misexpression and a specific pathology where modulating its enzymatic activity could provide a therapeutic benefit.

Genular Protein ID: 2393342967

Symbol: B3GA1_HUMAN

Name: Beta-1,3-glucuronyltransferase 1

UniProtKB Accession Codes:

Q9P2W7 B7Z5Z8 Q96FS7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 1 CTD 1 ChEBI 13 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 4 Ensembl 3 EvolutionaryTrace 1 GO 12 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 7 Rhea 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10783264

Title: Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope.

PubMed ID: 10783264

DOI: 10.1006/geno.2000.6152

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14993226

Title: Structural basis for acceptor substrate recognition of a human glucuronyltransferase, GlcAT-P, an enzyme critical in the biosynthesis of the carbohydrate epitope HNK-1.

PubMed ID: 14993226

DOI: 10.1074/jbc.m400622200

Sequence Information:

  • Length: 334
  • Mass: 38256
  • Checksum: 0DF42399D19701B3
  • Sequence:
    • MPKRRDILAI VLIVLPWTLL ITVWHQSTLA PLLAVHKDEG SDPRRETPPG ADPREYCTSD 
RDIVEVVRTE YVYTRPPPWS DTLPTIHVVT PTYSRPVQKA ELTRMANTLL HVPNLHWLVV 
EDAPRRTPLT ARLLRDTGLN YTHLHVETPR NYKLRGDARD PRIPRGTMQR NLALRWLRET 
FPRNSSQPGV VYFADDDNTY SLELFEEMRS TRRVSVWPVA FVGGLRYEAP RVNGAGKVVG 
WKTVFDPHRP FAIDMAGFAV NLRLILQRSQ AYFKLRGVKG GYQESSLLRE LVTLNDLEPK 
AANCTKILVW HTRTEKPVLV NEGKKGFTDP SVEI