Genular: Defining Cellular Identity and Function

Details for: B4GAT1

Gene ID: 11041

Symbol: B4GAT1

Ensembl ID: ENSG00000174684

Description: beta-1,4-glucuronyltransferase 1

Associated with

Defective large causes mddga6 and mddgb6
(R-HSA-5083627)
Disease
(R-HSA-1643685)
Diseases associated with o-glycosylation of proteins
(R-HSA-3906995)
Diseases of glycosylation
(R-HSA-3781865)
Diseases of metabolism
(R-HSA-5668914)
Glycosaminoglycan metabolism
(R-HSA-1630316)
Keratan sulfate/keratin metabolism
(R-HSA-1638074)
Keratan sulfate biosynthesis
(R-HSA-2022854)
Metabolism
(R-HSA-1430728)
Metabolism of carbohydrates
(R-HSA-71387)
Metabolism of proteins
(R-HSA-392499)
O-linked glycosylation
(R-HSA-5173105)
Post-translational protein modification
(R-HSA-597592)
Axon guidance
(GO:0007411)
Extracellular exosome
(GO:0070062)
Glucuronosyltransferase activity
(GO:0015020)
Golgi apparatus
(GO:0005794)
Golgi membrane
(GO:0000139)
Keratan sulfate biosynthetic process
(GO:0018146)
Metal ion binding
(GO:0046872)
N-acetyllactosaminide beta-1,3-n-acetylglucosaminyltransferase activity
(GO:0008532)
Poly-n-acetyllactosamine biosynthetic process
(GO:0030311)
Protein binding
(GO:0005515)
Protein o-linked mannosylation
(GO:0035269)

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 2.92
Marker Score: 2,341
Cell Name: tracheobronchial smooth muscle cell (CL0019019)
Fold Change: 2.15
Marker Score: 629
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 2.11
Marker Score: 4,284
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 1.69
Marker Score: 2,043
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 1.43
Marker Score: 1,345
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 1.24
Marker Score: 4,885
Cell Name: kidney cell (CL1000497)
Fold Change: 1.23
Marker Score: 823
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 1.2
Marker Score: 2,506
Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
Fold Change: 1.17
Marker Score: 394
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.16
Marker Score: 11,958
Cell Name: granulosa cell (CL0000501)
Fold Change: 1.09
Marker Score: 10,966
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.08
Marker Score: 9,317
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 1.06
Marker Score: 4,917
Cell Name: epithelial cell of glomerular capsule (CL1000450)
Fold Change: 1.05
Marker Score: 268
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 1.04
Marker Score: 4,320
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: 1.01
Marker Score: 1,131
Cell Name: neuron (CL0000540)
Fold Change: 1
Marker Score: 4,091
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 1
Marker Score: 1,703
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30,404
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.96
Marker Score: 494
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.95
Marker Score: 448
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2,407
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2,724
Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 0.91
Marker Score: 2,465
Cell Name: germ cell (CL0000586)
Fold Change: 0.89
Marker Score: 1,562
Cell Name: Leydig cell (CL0000178)
Fold Change: 0.89
Marker Score: 962
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 0.89
Marker Score: 8,429
Cell Name: nephron tubule epithelial cell (CL1000494)
Fold Change: 0.88
Marker Score: 207
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.88
Marker Score: 316
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.87
Marker Score: 4,976
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5,268
Cell Name: Mueller cell (CL0000636)
Fold Change: 0.86
Marker Score: 1,196
Cell Name: Sertoli cell (CL0000216)
Fold Change: 0.85
Marker Score: 5,046
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.85
Marker Score: 32,216
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.85
Marker Score: 52,092
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.83
Marker Score: 1,280
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.83
Marker Score: 12,930
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.82
Marker Score: 3,183
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 0.82
Marker Score: 5,302
Cell Name: sympathetic neuron (CL0011103)
Fold Change: 0.8
Marker Score: 265
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.8
Marker Score: 7,483
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.79
Marker Score: 15,628
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.78
Marker Score: 313
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1,267
Cell Name: Unknown (CL0002371)
Fold Change: 0.77
Marker Score: 823
Cell Name: endocardial cell (CL0002350)
Fold Change: 0.77
Marker Score: 437
Cell Name: keratocyte (CL0002363)
Fold Change: 0.76
Marker Score: 175
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.76
Marker Score: 580
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 0.75
Marker Score: 414
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.75
Marker Score: 224
Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 0.75
Marker Score: 1,083
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 0.74
Marker Score: 239
Cell Name: inhibitory motor neuron (CL0008015)
Fold Change: 0.73
Marker Score: 344
Cell Name: motor neuron (CL0000100)
Fold Change: 0.72
Marker Score: 426
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.7
Marker Score: 2,956
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 0.7
Marker Score: 438
Cell Name: brush cell (CL0002204)
Fold Change: 0.7
Marker Score: 635
Cell Name: decidual cell (CL2000002)
Fold Change: 0.68
Marker Score: 2,945
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.68
Marker Score: 174
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.67
Marker Score: 10,030
Cell Name: P/D1 enteroendocrine cell (CL0002268)
Fold Change: 0.67
Marker Score: 249
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.65
Marker Score: 23,856
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 0.64
Marker Score: 1,607
Cell Name: fibroblast of lung (CL0002553)
Fold Change: 0.64
Marker Score: 1,664
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.63
Marker Score: 2,630
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.63
Marker Score: 1,696
Cell Name: type EC enteroendocrine cell (CL0000577)
Fold Change: 0.63
Marker Score: 589
Cell Name: migratory enteric neural crest cell (CL0002607)
Fold Change: 0.62
Marker Score: 585
Cell Name: mature astrocyte (CL0002627)
Fold Change: 0.61
Marker Score: 399
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.6
Marker Score: 4,631
Cell Name: mesodermal cell (CL0000222)
Fold Change: 0.6
Marker Score: 7,889
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 0.59
Marker Score: 716
Cell Name: preosteoblast (CL0007010)
Fold Change: 0.59
Marker Score: 166
Cell Name: neural crest cell (CL0011012)
Fold Change: 0.57
Marker Score: 606
Cell Name: interstitial cell of Cajal (CL0002088)
Fold Change: 0.55
Marker Score: 192
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.55
Marker Score: 438
Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.54
Marker Score: 1,554
Cell Name: retina horizontal cell (CL0000745)
Fold Change: 0.54
Marker Score: 514
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.53
Marker Score: 566
Cell Name: astrocyte (CL0000127)
Fold Change: 0.53
Marker Score: 459
Cell Name: PP cell (CL0000696)
Fold Change: 0.53
Marker Score: 119
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.53
Marker Score: 1,072
Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 0.52
Marker Score: 1,233
Cell Name: peptic cell (CL0000155)
Fold Change: 0.52
Marker Score: 218
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.52
Marker Score: 1,098
Cell Name: neural progenitor cell (CL0011020)
Fold Change: 0.52
Marker Score: 2,012
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.52
Marker Score: 342
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.52
Marker Score: 537
Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 0.51
Marker Score: 206
Cell Name: rod bipolar cell (CL0000751)
Fold Change: 0.5
Marker Score: 260
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 0.49
Marker Score: 759
Cell Name: podocyte (CL0000653)
Fold Change: 0.49
Marker Score: 181
Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 0.49
Marker Score: 970
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.48
Marker Score: 10,340
Cell Name: smooth muscle cell of large intestine (CL1000279)
Fold Change: 0.48
Marker Score: 182
Cell Name: adventitial cell (CL0002503)
Fold Change: 0.48
Marker Score: 118
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.48
Marker Score: 198
Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.47
Marker Score: 592
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.47
Marker Score: 1,112
Cell Name: enteric neuron (CL0007011)
Fold Change: 0.47
Marker Score: 250

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

**Key Characteristics** B4GAT1 is a glycosyltransferase enzyme that catalyzes the transfer of glucuronic acid to the C-4 position of the beta-1,4-galactosyl residues in the biosynthesis of keratan sulfate. This enzyme is essential for the formation of the keratan sulfate/keratin complex, which plays a critical role in maintaining the structural integrity of the extracellular matrix. B4GAT1 exhibits a high degree of specificity, recognizing and targeting specific substrates, including keratan sulfate precursors and glycoproteins. **Pathways and Functions** B4GAT1 is involved in several key pathways, including: 1. **Glycosaminoglycan metabolism**: B4GAT1 is crucial for the biosynthesis of keratan sulfate, a key component of the extracellular matrix. 2. **Extracellular exosome**: B4GAT1 contributes to the formation and regulation of extracellular matrices, influencing cellular interactions and communication. 3. **Axon guidance**: B4GAT1 has been implicated in the development and maintenance of the nervous system, particularly in axon guidance and neuronal migration. 4. **Glycosylation**: B4GAT1 is involved in the modification of proteins and lipids, influencing their function, stability, and interactions. **Clinical Significance** Dysregulation of B4GAT1 has been implicated in various diseases, including: 1. **Neurodegenerative disorders**: Altered keratan sulfate biosynthesis has been linked to neurodegenerative diseases, such as Alzheimer's and Parkinson's disease. 2. **Metabolic disorders**: Impaired keratan sulfate biosynthesis has been associated with metabolic disorders, including diabetes and obesity. 3. **Glycosylation-related diseases**: Mutations in B4GAT1 have been linked to diseases associated with abnormal glycosylation, such as cancer and cardiovascular disease. 4. **Developmental disorders**: Abnormal keratan sulfate biosynthesis has been implicated in developmental disorders, including congenital anomalies and birth defects. In conclusion, B4GAT1 is a critical enzyme involved in the biosynthesis of keratan sulfate, a key component of the extracellular matrix. Its dysregulation has been implicated in various diseases, highlighting the importance of this enzyme in maintaining cellular homeostasis and overall health. Further research is necessary to fully elucidate the mechanisms underlying B4GAT1 dysfunction and to explore potential therapeutic strategies for the treatment of related diseases.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

I-beta-1,3-N-acetylglucosaminyltransferase

Genular Protein ID: 2005590112

Symbol: B4GA1_HUMAN

Name: I-beta-1,3-N-acetylglucosaminyltransferase

UniProtKB Accession Codes:

O43505 Q4TTN0

Database IDs:

Citations:

PubMed ID: 9405606

Title: Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis.

PubMed ID: 9405606

DOI: 10.1073/pnas.94.26.14294

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: 19587235

Title: Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase.

PubMed ID: 19587235

DOI: 10.1073/pnas.0904515106

PubMed ID: 23359570

Title: Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

PubMed ID: 23359570

DOI: 10.1093/hmg/ddt021

PubMed ID: 23877401

Title: A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

PubMed ID: 23877401

DOI: 10.1007/s10048-013-0367-8

PubMed ID: 25279699

Title: The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation.

PubMed ID: 25279699

DOI: 10.7554/elife.03941

PubMed ID: 25279697

Title: B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan.

PubMed ID: 25279697

DOI: 10.7554/elife.03943

Sequence Information:

Length: 415
Mass: 47119
Checksum: 432D00980EFE2B35
Sequence:

MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP PSPRSVDQVK 
AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH ASVDNLLHLS GLLERWEGPL 
SVSVFAATKE EAQLATVLAY ALSSHCPDMR ARVAMHLVCP SRYEAAVPDP REPGEFALLR 
SCQEVFDKLA RVAQPGINYA LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL 
REMLDQSNQW GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN 
YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI SQACELHVAG 
FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF KQELKAKYPN SPRRC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: B4GAT1

Associated with

Cells (max top 100)

Other Information

Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis. PubMed ID: 9405606

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase. PubMed ID: 19587235

Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. PubMed ID: 23359570

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. PubMed ID: 23877401

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation. PubMed ID: 25279699

B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan. PubMed ID: 25279697