Details for: B4GALT7

Gene ID: 11285

Symbol: B4GALT7

Ensembl ID: ENSG00000027847

Description: beta-1,4-galactosyltransferase 7

Associated with

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: placental villous trophoblast (CL2000060)
    Fold Change: 1.08
    Marker Score: 4,229
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,729
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,954
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,397
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.95
    Marker Score: 270
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,398
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 479
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,705
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.88
    Marker Score: 3,810
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,244
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.85
    Marker Score: 1,797
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 306
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4,854
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.8
    Marker Score: 429
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,264
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.76
    Marker Score: 481
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.76
    Marker Score: 1,122
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.76
    Marker Score: 318
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.75
    Marker Score: 1,718
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.75
    Marker Score: 280
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 569
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 296
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.73
    Marker Score: 620
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.72
    Marker Score: 1,626
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.72
    Marker Score: 1,187
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.71
    Marker Score: 1,778
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.7
    Marker Score: 749
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7
    Marker Score: 10,989
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.7
    Marker Score: 749
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 634
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.68
    Marker Score: 341
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.68
    Marker Score: 702
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.67
    Marker Score: 7,594
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.67
    Marker Score: 369
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.67
    Marker Score: 748
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.66
    Marker Score: 289
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.65
    Marker Score: 147
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.65
    Marker Score: 2,724
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.64
    Marker Score: 278
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.64
    Marker Score: 1,733
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.63
    Marker Score: 423
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.63
    Marker Score: 2,328
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.63
    Marker Score: 6,294
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.62
    Marker Score: 655
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.62
    Marker Score: 407
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.61
    Marker Score: 326
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.61
    Marker Score: 3,965
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.61
    Marker Score: 1,442
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.61
    Marker Score: 1,266
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.6
    Marker Score: 750
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.6
    Marker Score: 140
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.59
    Marker Score: 290
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.59
    Marker Score: 323
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.59
    Marker Score: 132
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.58
    Marker Score: 185
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.58
    Marker Score: 7,665
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.58
    Marker Score: 3,521
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.58
    Marker Score: 14,814
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.56
    Marker Score: 905
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.56
    Marker Score: 746
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.55
    Marker Score: 760
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.55
    Marker Score: 141
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.55
    Marker Score: 560
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.55
    Marker Score: 350
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.55
    Marker Score: 353
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.55
    Marker Score: 517
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.55
    Marker Score: 930
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.54
    Marker Score: 1,418
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.54
    Marker Score: 480
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.53
    Marker Score: 426
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.53
    Marker Score: 18,405
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.53
    Marker Score: 273
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.53
    Marker Score: 140
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.53
    Marker Score: 177
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.52
    Marker Score: 351
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.52
    Marker Score: 251
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.51
    Marker Score: 148
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.51
    Marker Score: 344
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.51
    Marker Score: 1,029
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.5
    Marker Score: 1,023
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.5
    Marker Score: 711
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.5
    Marker Score: 1,176
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.5
    Marker Score: 817
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 207
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.49
    Marker Score: 762
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.49
    Marker Score: 774
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.48
    Marker Score: 3,070
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.48
    Marker Score: 512
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.48
    Marker Score: 154
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.48
    Marker Score: 4,922
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.48
    Marker Score: 219
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.48
    Marker Score: 357
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.48
    Marker Score: 179
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.48
    Marker Score: 164
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.48
    Marker Score: 246
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.47
    Marker Score: 682
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.47
    Marker Score: 3,527

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.

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.

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.

Other Information

**Key Characteristics** B4GALT7 is a tetrasaccharide linker sequence-dependent enzyme, meaning that it requires a specific tetrasaccharide linker sequence to facilitate the transfer of galactose units to the growing GAG chain. The enzyme exhibits beta-n-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity, which is essential for the synthesis of GAGs. B4GALT7 also plays a role in the negative regulation of fibroblast proliferation and the organization of supramolecular fibers. **Pathways and Functions** B4GALT7 is involved in several key pathways, including: 1. **Glycosaminoglycan biosynthesis**: B4GALT7 is essential for the synthesis of GAGs, including chondroitin sulfate and dermatan sulfate, which are critical components of the extracellular matrix. 2. **Glycosaminoglycan metabolic process**: The enzyme is involved in the degradation and recycling of GAGs, which is essential for maintaining tissue homeostasis. 3. **Proteoglycan biosynthesis**: B4GALT7 is required for the synthesis of proteoglycans, which are composed of GAGs attached to core proteins. 4. **Golgi apparatus**: The enzyme is localized to the Golgi apparatus, where it plays a key role in the modification and glycosylation of proteins. **Clinical Significance** Deficiencies in B4GALT7 have been associated with Edwards syndrome (eds), a severe genetic disorder characterized by: 1. **Severe developmental delay**: Children with B4GALT7 deficiency often experience significant developmental delays, including delayed motor skills and cognitive impairment. 2. **Intellectual disability**: B4GALT7 deficiency is associated with intellectual disability, which can range from mild to severe. 3. **Progeroid type of disease**: The deficiency can also lead to a progeroid type of disease, characterized by premature aging and premature death. 4. **Glycosylation defects**: B4GALT7 deficiency can lead to glycosylation defects, which can have a significant impact on protein function and cell signaling. In conclusion, B4GALT7 is a crucial enzyme involved in the synthesis of glycosaminoglycans and proteoglycans. Deficiencies in B4GALT7 have been associated with severe developmental delay, intellectual disability, and premature aging. Further research is needed to fully understand the mechanisms underlying B4GALT7 deficiency and to develop effective therapeutic strategies for this disease.

Genular Protein ID: 2604181383

Symbol: B4GT7_HUMAN

Name: Beta-1,4-galactosyltransferase 7

UniProtKB Accession Codes:

Q9UBV7 B3KN39 Q9UHN2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 1 CTD 1 ChEBI 16 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EC 3 EMBL 9 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 18 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 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 PDB 6 PDBsum 2 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 3 SAM 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: 10473568

Title: Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.

PubMed ID: 10473568

DOI: 10.1074/jbc.274.37.26165

PubMed ID: 10438455

Title: Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.

PubMed ID: 10438455

DOI: 10.1074/jbc.274.33.22915

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 24052259

Title: Crystal structures of beta-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate Binding.

PubMed ID: 24052259

DOI: 10.1074/jbc.m113.509984

PubMed ID: 10506123

Title: Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.

PubMed ID: 10506123

DOI: 10.1074/jbc.274.41.28841

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

Sequence Information:

  • Length: 327
  • Mass: 37406
  • Checksum: 2EDF51A2F8143135
  • Sequence:
    • MFPSRRKAAQ LPWEDGRSGL LSGGLPRKCS VFHLFVACLS LGFFSLLWLQ LSCSGDVARA 
VRGQGQETSG PPRACPPEPP PEHWEEDASW GPHRLAVLVP FRERFEELLV FVPHMRRFLS 
RKKIRHHIYV LNQVDHFRFN RAALINVGFL ESSNSTDYIA MHDVDLLPLN EELDYGFPEA 
GPFHVASPEL HPLYHYKTYV GGILLLSKQH YRLCNGMSNR FWGWGREDDE FYRRIKGAGL 
QLFRPSGITT GYKTFRHLHD PAWRKRDQKR IAAQKQEQFK VDREGGLNTV KYHVASRTAL 
SVGGAPCTVL NIMLDCDKTA TPWCTFS

Genular Protein ID: 2910188445

Symbol: B3KMT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KMT1

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 1 DNASU 1 EMBL 2 GO 3 GenomeRNAi 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 2 RefSeq 1 SUPFAM 1

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 167
  • Mass: 19172
  • Checksum: B835B3FF6B4DAC5E
  • Sequence:
    • MHDVDLLPLN EELDYGFPEA GPFHVASPEL HPLYHYKTYV GGILLLSKQH YRLCNGMSNR 
FWGWGREDDE FYRRIKGAGL QLFRPSGITT GYKTFRHLHD PAWRKRDQKR IAAQKQEQFK 
VDREGGLNTV KYHVASRTAL SVGGAPCTVL NIMLDCDKTA TPWCTFS

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.