B4GALT7

Protein identityUniProt · HPA

UniProt accession

Q9UBV7

Gene

B4GALT7

Ensembl

ENSG00000027847

Chromosome

5

Canonical length

327 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

327 residues, UniProt reviewed canonical sequence.

>Q9UBV7|B4GALT7
     1  MFPSRRKAAQ LPWEDGRSGL LSGGLPRKCS VFHLFVACLS LGFFSLLWLQ LSCSGDVARA
    61  VRGQGQETSG PPRACPPEPP PEHWEEDASW GPHRLAVLVP FRERFEELLV FVPHMRRFLS
   121  RKKIRHHIYV LNQVDHFRFN RAALINVGFL ESSNSTDYIA MHDVDLLPLN EELDYGFPEA
   181  GPFHVASPEL HPLYHYKTYV GGILLLSKQH YRLCNGMSNR FWGWGREDDE FYRRIKGAGL
   241  QLFRPSGITT GYKTFRHLHD PAWRKRDQKR IAAQKQEQFK VDREGGLNTV KYHVASRTAL
   301  SVGGAPCTVL NIMLDCDKTA TPWCTFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B4GALT7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

43 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B4GALT7.

Disease | AllUniProt

Conditions B4GALT7 is implicated in, by any mechanism.

• Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) MIM:130070

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 450 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ehlers-Danlos syndrome progeroid type
• Spondylodysplastic Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, spondylodysplastic type, 1
• Larsen-like syndrome, B3GAT3 type
• Lethal skeletal dysplasia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.11

gnomAD pLI

0

gnomAD missense Z

-0.31

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carbohydrate metabolic process
• glycosaminoglycan biosynthetic process
• glycosaminoglycan-protein linkage region biosynthetic process
• negative regulation of fibroblast proliferation
• protein modification process
• protein N-linked glycosylation
• proteoglycan biosynthetic process
• proteoglycan metabolic process
• supramolecular fiber organization

Molecular functions

• beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
• galactosyltransferase activity
• manganese ion binding
• xylosylprotein 4-beta-galactosyltransferase activity

Cellular components

• Golgi apparatus
• Golgi cisterna membrane
• Golgi membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Beta-1,4-galactosyltransferase
• Galactosyltransferase, C-terminal
• Galactosyltransferase, N-terminal
• Nucleotide-diphospho-sugar transferases
• N-terminal domain of galactosyltransferase
• N-terminal region of glycosyl transferase group 7

KeywordsUniProt

• Disulfide bond
• Dwarfism
• Ehlers-Danlos syndrome
• Glycoprotein
• Glycosyltransferase
• Golgi apparatus
• Manganese
• Membrane
• Metal-binding
• Signal-anchor
• Transferase
• Transmembrane
• Transmembrane helix