B4GALNT1

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
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 prefrontal cortex Brodmann area 9 ganglionic eminence cingulate gyrus nucleus accumbens caudate nucleus putamen sural nerve amygdala hippocampus proper Top expressed in crypt of lieberkuhn of small intestine duodenum epithelium of stomach pyloric antrum jejunum superior frontal gyrus parotid gland spleen lacrimal gland left lobe of liver 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]
Wikidata
View/Edit Human View/Edit Mouse

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

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. doi: 10.1016/S0021-9258(19)49809-8 . PMID   1601877.
6. "Entrez Gene: B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1".

External links

• Human B4GALNT1 genome location and B4GALNT1 gene details page in the UCSC Genome Browser .

Further reading

• Nagata Y, Yamashiro S, Yodoi J, et al. (1994). "Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides". J. Biol. Chem. 269 (9): 7045. doi: 10.1016/S0021-9258(17)37480-X . PMID   8120069.
• Meurer JA, Naylor JM, Baker CA, et al. (1996). "cDNA cloning, expression, and chromosomal localization of a human UDP-GalNAc:polypeptide, N-acetylgalactosaminyltransferase". J. Biochem. 118 (3): 568–74. doi:10.1093/oxfordjournals.jbchem.a124947. PMID   8690719.
• Furukawa K, Soejima H, Niikawa N, Shiku H (1996). "Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units". J. Biol. Chem. 271 (34): 20836–44. doi: 10.1074/jbc.271.34.20836 . PMID   8702839.
• Jaskiewicz E, Zhu G, Bassi R, et al. (1996). "Beta1,4-N-acetylgalactosaminyltransferase (GM2 synthase) is released from Golgi membranes as a neuraminidase-sensitive, disulfide-bonded dimer by a cathepsin D-like protease". J. Biol. Chem. 271 (42): 26395–403. doi: 10.1074/jbc.271.42.26395 . PMID   8824296.
• Giraudo CG, Rosales Fritz VM, Maccioni HJ (1999). "GA2/GM2/GD2 synthase localizes to the trans-golgi network of CHO-K1 cells". Biochem. J. 342. Pt 3 (3): 633–40. doi:10.1042/bj3420633. PMC   1220504 . PMID   10477274.
• Toba S, Tenno M, Konishi M, et al. (2000). "Brain-specific expression of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T9)". Biochim. Biophys. Acta. 1493 (1–2): 264–8. doi:10.1016/S0167-4781(00)00180-9. PMID   10978536.
• Li J, Yen TY, Allende ML, et al. (2001). "Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains". J. Biol. Chem. 275 (52): 41476–86. doi: 10.1074/jbc.M007480200 . PMID   11018043.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Gornati R, Chini V, Rimoldi S, et al. (2007). "Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR". Mol. Cell. Biochem. 298 (1–2): 59–68. doi:10.1007/s11010-006-9350-0. hdl: 11383/1672116 . PMID   17119850. S2CID   29889795.