B3GNT6

Protein identityUniProt · HPA

UniProt accession

Q6ZMB0

Gene

B3GNT6

Ensembl

ENSG00000198488

Chromosome

11

Canonical length

384 aa

Protein class

Enzymes, Metabolic proteins, Predicted intracellular proteins

Secretome location

Intracellular and membrane

OverviewNCBI Gene

The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]

Canonical amino-acid sequenceUniProt

384 residues, UniProt reviewed canonical sequence.

>Q6ZMB0|B3GNT6
     1  MAFPCRRSLT AKTLACLLVG VSFLALQQWF LQAPRSPREE RSPQEETPEG PTDAPAADEP
    61  PSELVPGPPC VANASANATA DFEQLPARIQ DFLRYRHCRH FPLLWDAPAK CAGGRGVFLL
   121  LAVKSAPEHY ERRELIRRTW GQERSYGGRP VRRLFLLGTP GPEDEARAER LAELVALEAR
   181  EHGDVLQWAF ADTFLNLTLK HLHLLDWLAA RCPHARFLLS GDDDVFVHTA NVVRFLQAQP
   241  PGRHLFSGQL MEGSVPIRDS WSKYFVPPQL FPGSAYPVYC SGGGFLLSGP TARALRAAAR
   301  HTPLFPIDDA YMGMCLERAG LAPSGHEGIR PFGVQLPGAQ QSSFDPCMYR ELLLVHRFAP
   361  YEMLLMWKAL HSPALSCDRG HRVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B3GNT6 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)

0.33

Highest tissue expression

24 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B3GNT6.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 62 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Childhood-onset schizophrenia

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)

1.89

gnomAD pLI

0

gnomAD missense Z

-0.22

DepMap mean gene effect

-0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glycoprotein biosynthetic process
• poly-N-acetyllactosamine biosynthetic process
• protein O-linked glycosylation
• protein O-linked glycosylation via N-acetyl-galactosamine

Molecular functions

• beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity
• galactosyltransferase activity
• N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity
• UDP-glycosyltransferase activity
• acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity

Cellular components

• Golgi membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycosyl transferase, family 31
• Galactosyltransferase

KeywordsUniProt

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