Details for: B4GALNT1

Gene ID: 2583

Symbol: B4GALNT1

Ensembl ID: ENSG00000135454

Description: beta-1,4-N-acetyl-galactosaminyltransferase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 3.37
    Marker Score: 1868
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 1.41
    Marker Score: 320
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 872
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.15
    Marker Score: 4691.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.15
    Marker Score: 1778
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.15
    Marker Score: 10900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.06
    Marker Score: 9106
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.02
    Marker Score: 10525
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.01
    Marker Score: 62307
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71825
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48050
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.99
    Marker Score: 2513
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5348
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.91
    Marker Score: 8537
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.86
    Marker Score: 657
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.81
    Marker Score: 29950
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.8
    Marker Score: 2220
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.78
    Marker Score: 3245
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.77
    Marker Score: 2981
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.75
    Marker Score: 28488
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.74
    Marker Score: 491
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.73
    Marker Score: 304
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.72
    Marker Score: 2994
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.72
    Marker Score: 716
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.72
    Marker Score: 377
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.69
    Marker Score: 5307
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.63
    Marker Score: 12589
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.61
    Marker Score: 9054
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.59
    Marker Score: 470
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.56
    Marker Score: 1052.5
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.54
    Marker Score: 327
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5
    Marker Score: 7887
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.5
    Marker Score: 1012
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.49
    Marker Score: 1024
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.47
    Marker Score: 2297
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.45
    Marker Score: 253
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.45
    Marker Score: 420
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.44
    Marker Score: 747
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.43
    Marker Score: 1981
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.42
    Marker Score: 503
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.41
    Marker Score: 396
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.41
    Marker Score: 157
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.41
    Marker Score: 829
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.39
    Marker Score: 132
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.39
    Marker Score: 435
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.39
    Marker Score: 254
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.38
    Marker Score: 1484.5
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.38
    Marker Score: 12780
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.38
    Marker Score: 218
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 373
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.36
    Marker Score: 173
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.33
    Marker Score: 105
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.33
    Marker Score: 190
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.32
    Marker Score: 550.5
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.3
    Marker Score: 380
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.3
    Marker Score: 182
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.29
    Marker Score: 818
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.28
    Marker Score: 119
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.28
    Marker Score: 1461
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.28
    Marker Score: 280
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.26
    Marker Score: 116
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.25
    Marker Score: 107
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.24
    Marker Score: 71
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.24
    Marker Score: 116
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.24
    Marker Score: 155
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.23
    Marker Score: 122
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.23
    Marker Score: 2340
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.23
    Marker Score: 128
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.23
    Marker Score: 1708
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.22
    Marker Score: 513
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.21
    Marker Score: 241
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.2
    Marker Score: 284
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.2
    Marker Score: 1083
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.19
    Marker Score: 93
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.19
    Marker Score: 195
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.19
    Marker Score: 638
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.19
    Marker Score: 87
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.19
    Marker Score: 163
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.18
    Marker Score: 115
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.18
    Marker Score: 138
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.18
    Marker Score: 223
  • Cell Name: CD34-positive, CD56-positive, CD117-positive common innate lymphoid precursor, human (CL0001074)
    Fold Change: 0.17
    Marker Score: 48
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.17
    Marker Score: 47
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.17
    Marker Score: 3610
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.17
    Marker Score: 164.5
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 95
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.16
    Marker Score: 45
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.15
    Marker Score: 443
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.15
    Marker Score: 62
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.14
    Marker Score: 264
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.14
    Marker Score: 50

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Other Information

**Key characteristics:** * B4GALNT1 is a transmembrane protein with a single transmembrane domain and a cytoplasmic domain. * It is expressed in a variety of cell types, including neurons, astrocytes, and endothelial cells. * It is a homohexamer, with each subunit having a molecular weight of approximately 120 kDa. * It is a highly conserved enzyme, with similar sequences found in organisms from yeast to humans. **Pathways and functions:** * B4GALNT1 is involved in multiple pathways, including: * Acetylgalactosaminyltransferase activity: It catalyzes the transfer of an acetyl group from galactose-1-phosphate to a variety of substrates, including sphingolipids and glycoproteins. * Carbohydrate metabolic process: It participates in the biosynthesis of galactocerebroside G, a lipid that is essential for the structural integrity of cell membranes and the maintenance of neuronal function. * Ganglioside biosynthetic process: It is involved in the biosynthesis of ganglioside GM2, a complex sugar that is a major component of the myelin sheath of nerve cells. * Glycosphingolipid biosynthesis: It is involved in the biosynthesis of various glycosphingolipids, which are components of cell membranes and extracellular matrix proteins. * Glycosphingolipid metabolic process: It participates in the metabolism of glycosphingolipids, including the degradation of GM2. **Clinical significance:** * Mutations in B4GALNT1 have been linked to several neurological disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. * B4GALNT1 is a potential therapeutic target for these disorders, as it is involved in the synthesis of galactocerebroside G, a protein that is critical for the function of neurons. * Studies of B4GALNT1 have also shown that it is involved in other diseases, such as cancer and inflammation. **Additional notes:** * B4GALNT1 is a highly regulated protein, with its expression being controlled by a variety of factors, including growth factors, cytokines, and neurotransmitters. * It is a promising target for the development of new therapies for neurological disorders.

Genular Protein ID: 2122971090

Symbol: B4GN1_HUMAN

Name: (N-acetylneuraminyl)-galactosylglucosylceramide

UniProtKB Accession Codes:

Q00973 B4DE26 Q8N636

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 3 CDD 1 CTD 1 ChEBI 45 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 4 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 16 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 Rhea 18 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 2 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1601877

Title: Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides.

PubMed ID: 1601877

DOI: 10.1016/s0021-9258(19)49809-8

PubMed ID: 8120069

Title: Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides.

PubMed ID: 8120069

DOI: 10.1016/s0021-9258(17)37480-x

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

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: 7487055

Title: Analysis of melanoma cells stably transfected with beta 1,4GalNAc transferase (GM2/GD2 synthase) cDNA: relative glycosyltransferase levels play a dominant role in determining ganglioside expression.

PubMed ID: 7487055

DOI: 10.1006/abbi.1995.0003

PubMed ID: 7890749

Title: Substrate specificity of beta 1,4-N-acetylgalactosaminyltransferase in vitro and in cDNA-transfected cells. GM2/GD2 synthase efficiently generates asialo-GM2 in certain cells.

PubMed ID: 7890749

DOI: 10.1074/jbc.270.11.6149

PubMed ID: 11018043

Title: Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains.

PubMed ID: 11018043

DOI: 10.1074/jbc.m007480200

PubMed ID: 23746551

Title: Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

PubMed ID: 23746551

DOI: 10.1016/j.ajhg.2013.05.006

Sequence Information:

  • Length: 533
  • Mass: 58882
  • Checksum: 533946E05E2A102B
  • Sequence:
    • MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRLPLAPW APPQSPRRPE LPDLAPEPRY 
AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI DLTKAFDPAE LRAASATREQ 
EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL 
TASLGTWDVA GEVTGVTLTG EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTVRF 
STEGHEAAFT IRIRHPPNPR LYPPGSLPQG AQYNISALVT IATKTFLRYD RLRALITSIR 
RFYPTVTVVI ADDSDKPERV SGPYVEHYLM PFGKGWFAGR NLAVSQVTTK YVLWVDDDFV 
FTARTRLERL VDVLERTPLD LVGGAVREIS GFATTYRQLL SVEPGAPGLG NCLRQRRGFH 
HELVGFPGCV VTDGVVNFFL ARTDKVREVG FDPRLSRVAH LEFFLDGLGS LRVGSCSDVV 
VDHASKLKLP WTSRDAGAET YARYRYPGSL DESQMAKHRL LFFKHRLQCM TSQ

Genular Protein ID: 2852311872

Symbol: B4DSP5_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DSP5

Database IDs:

ARBA 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 3 Ensembl 2 GO 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 KEGG 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Proteomes 2 RefSeq 2 SAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 304
  • Mass: 33144
  • Checksum: B76A101800ACBD70
  • Sequence:
    • MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRLPLAPW APPQSPRRPE LPDLAPEPRY 
AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI DLTKAFDPAE LRAASATREQ 
EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL 
TASLGTWDVA GEVTGVTLTG EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTAQY 
NISALVTIAT KTFLRYDRLR ALITSIRRFY PTVTVVIADD SDKPERVSGP YVEHYLMPFG 
KVCS

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. For the full schema, download it here.