B3GALT1

Protein identityUniProt · HPA

UniProt accession

Q9Y5Z6

Gene

B3GALT1

Ensembl

ENSG00000172318

Chromosome

2

Canonical length

326 aa

Protein class

Enzymes, Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

326 residues, UniProt reviewed canonical sequence.

>Q9Y5Z6|B3GALT1
     1  MASKVSCLYV LTVVCWASAL WYLSITRPTS SYTGSKPFSH LTVARKNFTF GNIRTRPINP
    61  HSFEFLINEP NKCEKNIPFL VILISTTHKE FDARQAIRET WGDENNFKGI KIATLFLLGK
   121  NADPVLNQMV EQESQIFHDI IVEDFIDSYH NLTLKTLMGM RWVATFCSKA KYVMKTDSDI
   181  FVNMDNLIYK LLKPSTKPRR RYFTGYVING GPIRDVRSKW YMPRDLYPDS NYPPFCSGTG
   241  YIFSADVAEL IYKTSLHTRL LHLEDVYVGL CLRKLGIHPF QNSGFNHWKM AYSLCRYRRV
   301  ITVHQISPEE MHRIWNDMSS KKHLRC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B3GALT1 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)

0.31

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B3GALT1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 37 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypercholesterolemia, familial, 1

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)

0.92

gnomAD pLI

0.01

gnomAD missense Z

1.58

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glucosylceramide metabolic process
• oligosaccharide biosynthetic process
• protein O-linked glycosylation

Molecular functions

• 3)-galactosyltransferase activity
• N-acetyl-beta-D-glucosaminide beta-(1

Cellular components

• Golgi membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycosyl transferase, family 31
• Nucleotide-diphospho-sugar transferases
• Galactosyltransferase

KeywordsUniProt

• Glycoprotein
• Glycosyltransferase
• Golgi apparatus
• Lipid metabolism
• Manganese
• Membrane
• Signal-anchor
• Transferase
• Transmembrane
• Transmembrane helix