B4GALNT1

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

AliasesB4GALNT1, GALGT, GALNACT, GalNAc-T, SPG26, beta-1,4-N-acetyl-galactosaminyltransferase 1

External IDsOMIM: 601873; MGI: 1342057; HomoloGene: 1133; GeneCards: B4GALNT1; OMA:B4GALNT1 - orthologs

Chr.Chromosome 12 (human)^[1]

End57,633,239 bp^[1]

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B4GALNT1
Identifiers
Aliases	B4GALNT1, GALGT, GALNACT, GalNAc-T, SPG26, beta-1,4-N-acetyl-galactosaminyltransferase 1
External IDs	OMIM: 601873; MGI: 1342057; HomoloGene: 1133; GeneCards: B4GALNT1; OMA:B4GALNT1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.3 Start 57,623,409 bp[1] End 57,633,239 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 D3|10 74.5 cM Start 127,001,094 bp[2] End 127,008,199 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe prefrontal cortex Brodmann area 9 ganglionic eminence cingulate gyrus anterior cingulate cortex nucleus accumbens caudate nucleus putamen Top expressed in crypt of lieberkuhn of small intestine duodenum epithelium of stomach pyloric antrum jejunum superior frontal gyrus mesenteric lymph nodes primary visual cortex granulocyte parotid gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function hexosyltransferase activity glycosyltransferase activity acetylgalactosaminyltransferase activity transferase activity (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity Cellular component Golgi apparatus plasma membrane membrane integral component of Golgi membrane integral component of membrane Golgi membrane Biological process glycosphingolipid metabolic process spermatogenesis lipid glycosylation lipid storage ganglioside biosynthetic process lipid metabolism sphingolipid metabolic process carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2583 14421 Ensembl ENSG00000135454 ENSMUSG00000006731 UniProt Q00973 Q09200 RefSeq (mRNA) NM_001276468 NM_001276469 NM_001478 NM_001244617 NM_001244618 NM_008080 NM_027739 NM_001358577 NM_001358578 RefSeq (protein) NP_001263397 NP_001263398 NP_001469 NP_001231546 NP_001231547 NP_032106 NP_082015 NP_001345506 NP_001345507 Location (UCSC) Chr 12: 57.62 – 57.63 Mb Chr 10: 127 – 127.01 Mb PubMed search [3] [4]
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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]