Details for: B3GLCT

Gene ID: 145173

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: B3GLCT

Ensembl ID: ENSG00000187676

Description: beta 3-glucosyltransferase

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 24.11
    rCSI 40.47%
    PRS 90.43
  • sncg GABAergic cortical interneuron CL4023015
    CSI 20.68
    rCSI 33.26%
    PRS 90.81
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 8.95
    rCSI 32.19%
    PRS 88.9
  • ependymal cell CL0000065
    CSI 8.56
    rCSI 17.38%
    PRS 85.39
  • renal interstitial pericyte CL1001318
    CSI 8.01
    rCSI 22.06%
    PRS 95.79
  • ciliated epithelial cell CL0000067
    CSI 7.73
    rCSI 6.8%
    PRS 91.48
  • L6b glutamatergic cortical neuron CL4023038
    CSI 7.56
    rCSI 23.63%
    PRS 90.96
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 7.38
    rCSI 43.45%
    PRS 90.47
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 6.96
    rCSI 12.3%
    PRS 90.07
  • GABAergic amacrine cell CL4030027
    CSI 6.48
    rCSI 22.21%
    PRS 88.55
  • diffuse bipolar 3b cell CL4033030
    CSI 6.37
    rCSI 42.29%
    PRS 92.15
  • diffuse bipolar 2 cell CL4033028
    CSI 6.11
    rCSI 47.34%
    PRS 91.19
  • flat midget bipolar cell CL4033033
    CSI 5.29
    rCSI 37.8%
    PRS 90.03
  • cerebral cortex endothelial cell CL1001602
    CSI 5.2
    rCSI 8.99%
    PRS 94.19
  • Bergmann glial cell CL0000644
    CSI 5.07
    rCSI 6.94%
    PRS 92.41
  • sst GABAergic cortical interneuron CL4023017
    CSI 4.99
    rCSI 6.44%
    PRS 91.04
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 4.69
    rCSI 11.39%
    PRS 88.71
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 4.49
    rCSI 14.75%
    PRS 89.32
  • melanocyte CL0000148
    CSI 4.29
    rCSI 3.18%
    PRS 94.75
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 4.25
    rCSI 4.91%
    PRS 92.07
  • kidney connecting tubule epithelial cell CL1000768
    CSI 4.1
    rCSI 10.4%
    PRS 93.78
  • retinal rod cell CL0000604
    CSI 4.09
    rCSI 7.22%
    PRS 93.89
  • GABAergic neuron CL0000617
    CSI 4.04
    rCSI 13.55%
    PRS 88.27
  • hepatic stellate cell CL0000632
    CSI 4.03
    rCSI 15.1%
    PRS 94.96
  • glioblast CL0000030
    CSI 3.99
    rCSI 6.37%
    PRS 92.26
  • S cone cell CL0003050
    CSI 3.98
    rCSI 17.48%
    PRS 93.51
  • interneuron CL0000099
    CSI 3.91
    rCSI 7.86%
    PRS 93.87
  • VIP GABAergic cortical interneuron CL4023016
    CSI 3.8
    rCSI 4.54%
    PRS 90.32
  • OFF-bipolar cell CL0000750
    CSI 3.72
    rCSI 5.08%
    PRS 94.95
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 3.69
    rCSI 9.55%
    PRS 95.33
  • mucosal invariant T cell CL0000940
    CSI 3.67
    rCSI 2.97%
    PRS 98.52
  • inhibitory interneuron CL0000498
    CSI 3.48
    rCSI 8.03%
    PRS 91.55
  • Mueller cell CL0000636
    CSI 3.36
    rCSI 7.66%
    PRS 93.23
  • parietal epithelial cell CL1000452
    CSI 3.3
    rCSI 8.83%
    PRS 94.18
  • neural crest cell CL0011012
    CSI 3.23
    rCSI 2.55%
    PRS 93.85
  • chondrocyte CL0000138
    CSI 3.16
    rCSI 5.02%
    PRS 94.18
  • retinal bipolar neuron CL0000748
    CSI 3.12
    rCSI 5.85%
    PRS 92.03
  • choroid plexus epithelial cell CL0000706
    CSI 3.1
    rCSI 5.08%
    PRS 93.19
  • cardiac muscle cell CL0000746
    CSI 3.02
    rCSI 4.34%
    PRS 91.87
  • retinal cone cell CL0000573
    CSI 3
    rCSI 4.82%
    PRS 91.79
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.75
    rCSI 3.42%
    PRS 88.77
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 2.68
    rCSI 8.37%
    PRS 92.08
  • renal beta-intercalated cell CL0002201
    CSI 2.42
    rCSI 5.76%
    PRS 96.41
  • lung secretory cell CL1000272
    CSI 2.39
    rCSI 5.91%
    PRS 97.58
  • glutamatergic neuron CL0000679
    CSI 2.36
    rCSI 4.85%
    PRS 88.85
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.35
    rCSI 5.27%
    PRS 90.67
  • glycinergic amacrine cell CL4030028
    CSI 2.28
    rCSI 5.95%
    PRS 92.27
  • OFFx cell CL4033036
    CSI 2.26
    rCSI 10.63%
    PRS 88.95
  • regular atrial cardiac myocyte CL0002129
    CSI 2.19
    rCSI 7.06%
    PRS 93.93
  • direct pathway medium spiny neuron CL4023026
    CSI 2.01
    rCSI 48.03%
    PRS 88.03
  • indirect pathway medium spiny neuron CL4023029
    CSI 1.98
    rCSI 47.87%
    PRS 87.78
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 1.9
    rCSI 4.54%
    PRS 90.25
  • retinal ganglion cell CL0000740
    CSI 1.89
    rCSI 4.18%
    PRS 90.82
  • amacrine cell CL0000561
    CSI 1.73
    rCSI 5.02%
    PRS 91.74
  • central nervous system neuron CL2000029
    CSI 1.66
    rCSI 12.18%
    PRS 92.33
  • neural progenitor cell CL0011020
    CSI 1.18
    rCSI 5.19%
    PRS 89.18
  • OFF midget ganglion cell CL4033047
    CSI 0.88
    rCSI 17.85%
    PRS 91.22
  • diffuse bipolar 1 cell CL4033027
    CSI 0.79
    rCSI 5.93%
    PRS 89
  • diffuse bipolar 3a cell CL4033029
    CSI 0.74
    rCSI 5.03%
    PRS 90.84
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.72
    rCSI 2.74%
    PRS 90.23
  • regular ventricular cardiac myocyte CL0002131
    CSI 0.7
    rCSI 4.37%
    PRS 92.56
  • ON midget ganglion cell CL4033046
    CSI 0.69
    rCSI 14.05%
    PRS 91.02
  • medium spiny neuron CL1001474
    CSI 0.5
    rCSI 4.29%
    PRS 91.76
  • kidney distal convoluted tubule epithelial cell CL1000849
    CSI 0.29
    rCSI 3.12%
    PRS 94.03

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.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • 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 [B3GLCT](/details-gene/145173) (Beta-1,3-Glucosyltransferase) is a protein-coding gene located on chromosome 13q12.3. It encodes a glycosyltransferase that resides in the endoplasmic reticulum membrane. The primary function of this enzyme is to catalyze the addition of a glucose residue to an O-linked fucose on thrombospondin type 1 repeat (TSR) domains, a critical step in protein O-glycosylation ([Link](https://doi.org/10.1093/glycob/cwl035)). Expression data reveals that [B3GLCT](/details-gene/145173) is a highly significant gene in the central nervous system, showing prominent expression in various neuronal subtypes of the cerebral cortex and retina, as well as in ciliated cells. Pathogenic mutations in [B3GLCT](/details-gene/145173) are the known cause of Peters-Plus Syndrome ([153245](https://omim.org/entry/261540)), a rare autosomal recessive disorder characterized by developmental defects of the eye, skeleton, and other systems ([Link](https://doi.org/10.1086/507567)). ## Cellular Roles and Expression Landscape The expression profile of [B3GLCT](/details-gene/145173) strongly indicates a specialized role within the central nervous system and other specific tissues. **Overall**, its significance is most pronounced in diverse neuronal populations of the brain and retina. The top-scoring cells include distinct cortical interneurons such as [lamp5 GABAergic cortical interneuron](/details-cell/CL4023011) (CSI: 24.11) and [sncg GABAergic cortical interneuron](/details-cell/CL4023015) (CSI: 20.68), as well as glutamatergic neurons like [L5 extratelencephalic projecting glutamatergic cortical neuron](/details-cell/CL4023041) (CSI: 8.95). This neural signature extends to the retina, where [B3GLCT](/details-gene/145173) shows high significance in [GABAergic amacrine cell](/details-cell/CL4030027)s and multiple types of bipolar cells, including [diffuse bipolar 3b cell](/details-cell/CL4033030) and [diffuse bipolar 2 cell](/details-cell/CL4033028). Beyond neurons, the gene is also a significant marker for supportive or specialized cells such as [ependymal cell](/details-cell/CL0000065)s lining the brain ventricles and [ciliated epithelial cell](/details-cell/CL0000067)s. This specific expression pattern in neuronal and ciliated cell types is consistent with the neurological, ocular, and developmental phenotypes observed in Peters-Plus Syndrome. The concentration of high significance scores within these lineages suggests a highly specialized function for [B3GLCT](/details-gene/145173) and likely lower activity in other major systems, such as the hematopoietic or musculoskeletal systems, outside of developmental contexts. ## Pathways and Molecular Function The molecular function of [B3GLCT](/details-gene/145173) is centered on its [glycosyltransferase activity](/details-go/GO:0016757), operating from its location in the [endoplasmic reticulum membrane](/details-go/GO:0005789). It is a key enzyme in [post-translational protein modification](/details-pathway/R-HSA-597592), specifically involved in the [O-linked glycosylation](/details-pathway/R-HSA-5173105) of proteins containing TSR domains ([R-HSA-5173214](https://reactome.org/content/detail/R-HSA-5173214)). This modification process is integral to the proper folding, stability, and function of numerous extracellular matrix and cell-surface proteins. Consistent with its expression pattern and the clinical manifestations of its deficiency, [B3GLCT](/details-gene/145173) is linked to multiple crucial biological processes. These include the development of complex structures such as the brain ([GO:0007420](https://www.ebi.ac.uk/QuickGO/term/GO:0007420)), eye ([GO:0043010](https://www.ebi.ac.uk/QuickGO/term/GO:0043010)), and skeletal system ([GO:0001501](https://www.ebi.ac.uk/QuickGO/term/GO:0001501)). Its role in [cilium assembly](/details-go/GO:0060271) aligns with its expression in ciliated cells and suggests a potential link to ciliopathies. Reactome pathways confirm that defects in this gene are associated with [Diseases of glycosylation](/details-pathway/R-HSA-3781865), with the pathway "[Defective b3galtl causes pps](/details-pathway/R-HSA-5083635)" directly linking its dysfunction to Peters-Plus Syndrome. ## Research Directions The specific expression of [B3GLCT](/details-gene/145173) in distinct neuronal subtypes and its fundamental role in glycosylation provide clear avenues for future research. Understanding its precise substrates and downstream consequences is key to elucidating the pathophysiology of Peters-Plus Syndrome. **Proposed Hypotheses:** 1. Given its high and specific expression in diverse neuronal subtypes, it is hypothesized that [B3GLCT](/details-gene/145173) modifies a specific subset of TSR-domain-containing proteins (e.g., thrombospondins, F-spondin) that are critical for neuronal migration, synaptogenesis, or axonal guidance in the developing cortex and retina. The differential significance across neuron types may reflect distinct requirements for the glycosylation of these substrates. 2. The gene's association with [cilium assembly](/details-go/GO:0060271) and its expression in [ependymal cell](/details-cell/CL0000065)s suggests that B3GLCT-mediated glycosylation is essential for the structural integrity or function of proteins within motile cilia. Disruption of this function could impair cerebrospinal fluid flow and contribute to the hydrocephalus observed in some individuals with Peters-Plus Syndrome. **Key Experiment:** To test the first hypothesis and identify neuron-specific substrates of [B3GLCT](/details-gene/145173), a proximity-biotinylation approach (e.g., TurboID) could be employed. A TurboID-tagged B3GLCT could be expressed in human iPSC-derived cortical neurons. Mass spectrometry analysis of biotinylated proteins would then reveal the interactome and proximate substrates of [B3GLCT](/details-gene/145173) in a physiologically relevant context. Candidate substrates could be validated through co-immunoprecipitation and subsequent analysis of their glycosylation status in [B3GLCT](/details-gene/145173) knockout versus wild-type neuronal models. **Therapeutic Potential:** As [B3GLCT](/details-gene/145173) is implicated in a monogenic, loss-of-function developmental disorder, therapeutic strategies would focus on **activation** or restoration of function, rather than inhibition. The most direct approach would be gene therapy, aiming to deliver a functional copy of the gene to critical tissues like the central nervous system and eyes during key developmental periods. However, this faces significant delivery challenges. An alternative future strategy could involve the development of pharmacological chaperones or small molecules that stabilize misfolded mutant B3GLCT protein or enhance the activity of any residual enzyme in patients with hypomorphic alleles, though this remains a speculative approach.

Genular Protein ID: 2898933697

Symbol: B3GLT_HUMAN

Name: Beta-1,3-glucosyltransferase

UniProtKB Accession Codes:

Q6Y288 A8K5F8 Q5W0H2 Q6NUI3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 7 Ensembl 1 GO 5 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12943678

Title: A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts.

PubMed ID: 12943678

DOI: 10.1016/s0006-291x(03)01540-7

PubMed ID: 16899492

Title: Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain.

PubMed ID: 16899492

DOI: 10.1093/glycob/cwl035

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 16909395

Title: Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

PubMed ID: 16909395

DOI: 10.1086/507567

Sequence Information:

  • Length: 498
  • Mass: 56564
  • Checksum: CDC6A479A1564D48
  • Sequence:
    • MRPPACWWLL APPALLALLT CSLAFGLASE DTKKEVKQSQ DLEKSGISRK NDIDLKGIVF 
VIQSQSNSFH AKRAEQLKKS ILKQAADLTQ ELPSVLLLHQ LAKQEGAWTI LPLLPHFSVT 
YSRNSSWIFF CEEETRIQIP KLLETLRRYD PSKEWFLGKA LHDEEATIIH HYAFSENPTV 
FKYPDFAAGW ALSIPLVNKL TKRLKSESLK SDFTIDLKHE IALYIWDKGG GPPLTPVPEF 
CTNDVDFYCA TTFHSFLPLC RKPVKKKDIF VAVKTCKKFH GDRIPIVKQT WESQASLIEY 
YSDYTENSIP TVDLGIPNTD RGHCGKTFAI LERFLNRSQD KTAWLVIVDD DTLISISRLQ 
HLLSCYDSGE PVFLGERYGY GLGTGGYSYI TGGGGMVFSR EAVRRLLASK CRCYSNDAPD 
DMVLGMCFSG LGIPVTHSPL FHQARPVDYP KDYLSHQVPI SFHKHWNIDP VKVYFTWLAP 
SDEDKARQET QKGFREEL