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B4GALT7
Description
beta-1,4-galactosyltransferase 7
Image
GO Annotations
Cellular Component
Golgi Membrane
Golgi Apparatus
Integral Component Of Membrane
Golgi Cisterna Membrane
Molecular Function
Beta-N-acetylglucosaminylglycopeptide Beta-1,4-galactosyltransferase Activity
Protein Binding
Galactosyltransferase Activity
Manganese Ion Binding
Xylosylprotein 4-beta-galactosyltransferase Activity
Biological Process
Carbohydrate Metabolic Process
Glycosaminoglycan Biosynthetic Process
Proteoglycan Metabolic Process
Cellular Protein Modification Process
Protein N-linked Glycosylation
Protein Phosphopantetheinylation
Proteoglycan Biosynthetic Process
Glycosaminoglycan Metabolic Process
Negative Regulation Of Fibroblast Proliferation
Glycosylation
Supramolecular Fiber Organization
Pathways
A tetrasaccharide linker sequence is required for GAG synthesis
Defective B4GALT7 causes EDS, progeroid type
Drugs
Diseases
Ehlers-Danlos syndrome (EDS), including: EDS classical type (EDS1/2); EDS hypermobility type (EDS3); EDS vascular type (EDS4); EDS kyphoscoliosis type (EDS6); EDS arthrochalasia type (EDS7A/7B); EDS dermatospraxis type (EDS7C); EDS autosomal recessive cardiac valvular form (EDSCV); EDS musculocontractural type (EDSMC); EDS progeroid form (EDSP); Tenascin-X deficiency (TNXD); Brittle cornea syndrome (EDS6B); EDS-like spondylocheiro dysplasia (SCD-EDS)
Ehlers-Danlos syndrome, progeroid form
GWAS
Blood protein levels (
30072576
)
Methadone dose in opioid dependence (
28115739
)
Waist-to-hip ratio adjusted for BMI (
26426971
)
Waist-to-hip ratio adjusted for BMI (age <50) (
26426971
)
Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) (
26426971
)
Novel Interacting Genes
1 novel interacting genes:
PBRM1
Interacting Genes
6 interacting genes:
CYSRT1
KRT31
KRTAP10-3
KRTAP10-7
RABGGTB
TMEM14B
Entrez ID
11285
HPRD ID
05060
Ensembl ID
ENSG00000027847
Uniprot IDs
B3KMT1
Q9UBV7
PDB IDs
4IRP
4IRQ
Enriched GO Terms of Interacting Partners
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Tagcloud
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