A4GALT

Protein identityUniProt · HPA

UniProt accession

Q9NPC4

Gene

A4GALT

Ensembl

ENSG00000128274

Chromosome

22

Canonical length

353 aa

Protein class

Enzymes, Metabolic proteins, Predicted membrane proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

353 residues, UniProt reviewed canonical sequence.

>Q9NPC4|A4GALT
     1  MSKPPDLLLR LLRGAPRQRV CTLFIIGFKF TFFVSIMIYW HVVGEPKEKG QLYNLPAEIP
    61  CPTLTPPTPP SHGPTPGNIF FLETSDRTNP NFLFMCSVES AARTHPESHV LVLMKGLPGG
   121  NASLPRHLGI SLLSCFPNVQ MLPLDLRELF RDTPLADWYA AVQGRWEPYL LPVLSDASRI
   181  ALMWKFGGIY LDTDFIVLKN LRNLTNVLGT QSRYVLNGAF LAFERRHEFM ALCMRDFVDH
   241  YNGWIWGHQG PQLLTRVFKK WCSIRSLAES RACRGVTTLP PEAFYPIPWQ DWKKYFEDIN
   301  PEELPRLLSA TYAVHVWNKK SQGTRFEATS RALLAQLHAR YCPTTHEAMK MYL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against A4GALT 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)

0.3

Highest tissue expression

73 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about A4GALT.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 139 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• NOR polyagglutination syndrome

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)

1.65

gnomAD pLI

0

gnomAD missense Z

-0.19

DepMap mean gene effect

-0.07

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

• globoside biosynthetic process
• glycosphingolipid biosynthetic process
• plasma membrane organization

Molecular functions

• galactosyltransferase activity
• toxic substance binding
• lactosylceramide 4-alpha-galactosyltransferase activity

Cellular components

• Golgi membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycosyltransferase, DXD sugar-binding motif
• Alpha 1,4-glycosyltransferase domain
• Nucleotide-diphospho-sugar transferases
• Alpha-1,4-N-acetylglucosaminyltransferase
• Glycosyltransferase sugar-binding region containing DXD motif
• Alpha 1,4-glycosyltransferase conserved region

KeywordsUniProt

• Blood group antigen
• Glycoprotein
• Glycosyltransferase
• Golgi apparatus
• Lipid biosynthesis
• Lipid metabolism
• Membrane
• Signal-anchor
• Transferase
• Transmembrane
• Transmembrane helix