// Workers AI · dad joke modeWhat did B4GALNT1 gene say? I'm a glyco-gene-ius.

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
Enzyme activity
Gene location (Human)
Chr.	Chromosome 12 (human)
End	57,633,239 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	127,008,199 bp
RNA expression pattern
	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
	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
	2583
	14421
	ENSG00000135454
	ENSMUSG00000006731
	Q00973
	Q09200
	NM_001276468; NM_001276469; NM_001478
NM_001244617; NM_001244618; NM_008080; NM_027739; NM_001358577;
	NM_001358578
	NP_001263397; NP_001263398; NP_001469
NP_001231546; NP_001231547; NP_032106; NP_082015; NP_001345506;
	NP_001345507
	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 2 3 GRCh38: Ensembl release 89: ENSG00000135454 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006731 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
1 2 "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.

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.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000135454 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid1601877-5] 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.

[entrez-6] 1 2 "Entrez Gene: B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1".

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// Workers AI · dad joke modeWhat did B4GALNT1 gene say? I'm a glyco-gene-ius.

References

External links

Further reading