B4GALNT1

Beta-1,4 N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the B4GALNT1 gene.[5][6]

B4GALNT1
Identifiers
AliasesB4GALNT1, GALGT, GALNACT, GalNAc-T, SPG26, beta-1,4-N-acetyl-galactosaminyltransferase 1
External IDsOMIM: 601873 MGI: 1342057 HomoloGene: 1133 GeneCards: B4GALNT1
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12q13.3Start57,623,409 bp[1]
End57,633,239 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

2583

14421

Ensembl

ENSG00000135454

ENSMUSG00000006731

UniProt

Q00973

Q09200

RefSeq (mRNA)

NM_001276468
NM_001276469
NM_001478

RefSeq (protein)

NP_001263397
NP_001263398
NP_001469

Location (UCSC)Chr 12: 57.62 – 57.63 MbChr 10: 127.17 – 127.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000135454 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000006731 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Nagata Y, Yamashiro S, Yodoi J, Lloyd KO, Shiku H, Furukawa K (Jul 1992). "Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides". J Biol Chem. 267 (17): 12082–9. PMID 1601877.
  6. "Entrez Gene: B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1".

Further reading


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