Details for: B4GALT1

Gene ID: 2683

Symbol: B4GALT1

Ensembl ID: ENSG00000086062

Description: beta-1,4-galactosyltransferase 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: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.99
    Marker Score: 166933.5
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.5
    Marker Score: 85132
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.48
    Marker Score: 2652
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.45
    Marker Score: 6171
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 2.3
    Marker Score: 1965
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 2.25
    Marker Score: 7111
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 2.17
    Marker Score: 1480
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.07
    Marker Score: 8683
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 2.06
    Marker Score: 10126
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1.92
    Marker Score: 101754
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.91
    Marker Score: 1260
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.89
    Marker Score: 6728
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.87
    Marker Score: 2755
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.86
    Marker Score: 536
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.82
    Marker Score: 40628
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.8
    Marker Score: 495
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.78
    Marker Score: 2514
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.76
    Marker Score: 550
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 1.74
    Marker Score: 617
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.71
    Marker Score: 998
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.7
    Marker Score: 1027
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.69
    Marker Score: 705
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.69
    Marker Score: 2458
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.68
    Marker Score: 26973
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.65
    Marker Score: 10551
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.64
    Marker Score: 957
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.62
    Marker Score: 1710
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.62
    Marker Score: 1751
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.61
    Marker Score: 1394
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.6
    Marker Score: 2920
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.58
    Marker Score: 4372
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.57
    Marker Score: 1589
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 1.57
    Marker Score: 1543
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.55
    Marker Score: 5503.5
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.55
    Marker Score: 1034
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.53
    Marker Score: 875
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.53
    Marker Score: 1062
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.53
    Marker Score: 3476
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.52
    Marker Score: 2094
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.51
    Marker Score: 881
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.5
    Marker Score: 475
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.5
    Marker Score: 1749
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.49
    Marker Score: 479
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.46
    Marker Score: 3810
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.45
    Marker Score: 524
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 165871
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 1.44
    Marker Score: 725
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.43
    Marker Score: 668
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.43
    Marker Score: 2746
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.43
    Marker Score: 1264
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.42
    Marker Score: 1839
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.41
    Marker Score: 701
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.41
    Marker Score: 347
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.4
    Marker Score: 498
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.4
    Marker Score: 3290
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.39
    Marker Score: 3738
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.39
    Marker Score: 7324
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.38
    Marker Score: 564.5
  • Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
    Fold Change: 1.38
    Marker Score: 455
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.38
    Marker Score: 669
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.36
    Marker Score: 507
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 1.35
    Marker Score: 1462
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.35
    Marker Score: 8671.5
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.35
    Marker Score: 2387
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.33
    Marker Score: 8690.5
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 1.33
    Marker Score: 1092
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.32
    Marker Score: 791
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.32
    Marker Score: 5699
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 1.31
    Marker Score: 3668.5
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 1.3
    Marker Score: 468
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.29
    Marker Score: 663
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 1.28
    Marker Score: 279
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 1.28
    Marker Score: 467
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.28
    Marker Score: 2331
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.27
    Marker Score: 1319
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.27
    Marker Score: 2875
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.27
    Marker Score: 431
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.26
    Marker Score: 321
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.26
    Marker Score: 1347
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.26
    Marker Score: 1438
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.25
    Marker Score: 1122
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.25
    Marker Score: 4918.5
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.25
    Marker Score: 854
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.25
    Marker Score: 3924
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.24
    Marker Score: 2059
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.24
    Marker Score: 19393
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 1.24
    Marker Score: 532
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.23
    Marker Score: 295
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.23
    Marker Score: 7293
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.23
    Marker Score: 4738
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.23
    Marker Score: 1171
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.23
    Marker Score: 2389
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.22
    Marker Score: 1125
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.22
    Marker Score: 459
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.21
    Marker Score: 41801
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 1.21
    Marker Score: 300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.2
    Marker Score: 6467
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.2
    Marker Score: 1203
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.2
    Marker Score: 386
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.2
    Marker Score: 8925.5

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Other Information

**Key characteristics:** * B4GALT1 is a transmembrane protein with a molecular weight of approximately 120 kDa. * It is highly expressed in epithelial cells, particularly in tissues such as the skin, lungs, and mammary gland. * B4GALT1 is also expressed in immune cells, including macrophages and dendritic cells. **Pathways and functions:** * B4GALT1 is involved in the asparagine n-linked glycosylation pathway, a complex process that adds sugar molecules to asparagine residues in proteins. * It is also involved in the synthesis of galactocerebroside G, a sugar that is essential for the structural integrity of cell membranes. * B4GALT1 also plays a role in the regulation of inflammation by interacting with the immune system. * It has been shown to regulate the function of dendritic cells, which are cells that are responsible for presenting antigens to lymphocytes. * B4GALT1 is also involved in the development and maintenance of tissues in the mammary gland. **Clinical significance:** * Mutations in B4GALT1 have been linked to several human diseases, including galactocerebroside G-deficient diseases, which are characterized by a lack of galactocerebroside G in the brain. * These diseases can cause a variety of symptoms, including intellectual disability, seizures, and developmental problems. * B4GALT1 is a potential therapeutic target for diseases caused by mutations in this gene. **Additional points:** * B4GALT1 is a highly conserved protein, with similar genes found in other mammals. * It is a ubiquitin-dependent protein, which means that it is targeted for degradation by the proteasome. * B4GALT1 is a relatively new protein, with the first human gene encoding this protein being identified in 1994.

Genular Protein ID: 3365089358

Symbol: B4GT1_HUMAN

Name: Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase

UniProtKB Accession Codes:

P15291 B2R710 D3DRL2 Q12909 Q12910 Q12911 Q14456 Q14509 Q14523

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 4 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 1 CTD 1 ChEBI 40 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 EC 4 EMBL 21 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 45 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MoonProt 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 41 PDBsum 19 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 8 RefSeq 1 Rhea 12 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3144273

Title: Identification of the full-length coding sequence for human galactosyltransferase (beta-N-acetylglucosaminide: beta 1,4-galactosyltransferase).

PubMed ID: 3144273

DOI: 10.1016/s0006-291x(88)80300-0

PubMed ID: 2124683

Title: Near identity of HeLa cell galactosyltransferase with the human placental enzyme.

PubMed ID: 2124683

DOI: 10.1093/nar/18.23.7174

PubMed ID: 1903938

Title: Genomic structure and expression of human beta-1,4-galactosyltransferase.

PubMed ID: 1903938

DOI: 10.1016/0006-291x(91)90423-5

PubMed ID: 1384956

Title: Complementary DNA cloning for galactosyltransferase associated with tumor and determination of antigenic epitopes recognized by specific monoclonal antibodies.

PubMed ID: 1384956

PubMed ID: 7579794

Title: The beta 1, 4-galactosyltransferase gene is post-transcriptionally regulated during differentiation of mouse F9 teratocarcinoma cells.

PubMed ID: 7579794

DOI: 10.1093/glycob/5.4.397

PubMed ID: 7540104

Title: Analysis of the sequences of human beta-1,4-galactosyltransferase cDNA clones.

PubMed ID: 7540104

DOI: 10.1016/1357-2725(94)00062-g

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 3094506

Title: Isolation of a cDNA coding for human galactosyltransferase.

PubMed ID: 3094506

DOI: 10.1016/s0006-291x(86)80094-8

PubMed ID: 3091013

Title: Isolation of galactosyltransferase from human milk and the determination of its N-terminal amino acid sequence.

PubMed ID: 3091013

DOI: 10.1016/0006-291x(86)90269-x

PubMed ID: 2120039

Title: Analysis of the substrate binding sites of human galactosyltransferase by protein engineering.

PubMed ID: 2120039

DOI: 10.1002/j.1460-2075.1990.tb07515.x

PubMed ID: 1714903

Title: Evidence for a molecular distinction between Golgi and cell surface forms of beta 1,4-galactosyltransferase.

PubMed ID: 1714903

DOI: 10.1016/s0021-9258(18)98505-4

PubMed ID: 7744867

Title: Golgi retention mechanism of beta-1,4-galactosyltransferase. Membrane-spanning domain-dependent homodimerization and association with alpha- and beta-tubulins.

PubMed ID: 7744867

DOI: 10.1074/jbc.270.20.12170

PubMed ID: 10580128

Title: Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions.

PubMed ID: 10580128

DOI: 10.1016/s0304-4165(99)00168-3

PubMed ID: 11901181

Title: Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

PubMed ID: 11901181

DOI: 10.1172/jci14010

PubMed ID: 20378551

Title: Golgi N-glycosyltransferases form both homo- and heterodimeric enzyme complexes in live cells.

PubMed ID: 20378551

DOI: 10.1074/jbc.m110.103184

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 34855475

Title: Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.

PubMed ID: 34855475

DOI: 10.1126/science.abe0348

PubMed ID: 16157350

Title: Oligosaccharide preferences of beta1,4-galactosyltransferase-I: crystal structures of Met340His mutant of human beta1,4-galactosyltransferase-I with a pentasaccharide and trisaccharides of the N-glycan moiety.

PubMed ID: 16157350

DOI: 10.1016/j.jmb.2005.07.050

PubMed ID: 16497331

Title: Structural snapshots of beta-1,4-galactosyltransferase-I along the kinetic pathway.

PubMed ID: 16497331

DOI: 10.1016/j.jmb.2006.01.088

PubMed ID: 19106107

Title: Deoxygenated disaccharide analogs as specific inhibitors of beta1-4-galactosyltransferase 1 and selectin-mediated tumor metastasis.

PubMed ID: 19106107

DOI: 10.1074/jbc.m805782200

PubMed ID: 30653653

Title: Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

PubMed ID: 30653653

DOI: 10.1111/cge.13508

PubMed ID: 32157688

Title: B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

PubMed ID: 32157688

DOI: 10.1111/cge.13735

Sequence Information:

  • Length: 398
  • Mass: 43920
  • Checksum: 29B224C83C61E165
  • Sequence:
    • MRLREPLLSG SAAMPGASLQ RACRLLVAVC ALHLGVTLVY YLAGRDLSRL PQLVGVSTPL 
QGGSNSAAAI GQSSGELRTG GARPPPPLGA SSQPRPGGDS SPVVDSGPGP ASNLTSVPVP 
HTTALSLPAC PEESPLLVGP MLIEFNMPVD LELVAKQNPN VKMGGRYAPR DCVSPHKVAI 
IIPFRNRQEH LKYWLYYLHP VLQRQQLDYG IYVINQAGDT IFNRAKLLNV GFQEALKDYD 
YTCFVFSDVD LIPMNDHNAY RCFSQPRHIS VAMDKFGFSL PYVQYFGGVS ALSKQQFLTI 
NGFPNNYWGW GGEDDDIFNR LVFRGMSISR PNAVVGRCRM IRHSRDKKNE PNPQRFDRIA 
HTKETMLSDG LNSLTYQVLD VQRYPLYTQI TVDIGTPS

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.