• Gene id: 2583

Gene Summary

• Gene Symbol: B4GALNT1   Gene   UCSC   Ensembl
• Aliases: GALGT, GALNACT, GalNAc-T, SPG26
• Gene name: beta-1,4-N-acetyl-galactosaminyltransferase 1
• Alternate names: beta-1,4 N-acetylgalactosaminyltransferase 1, GD2 synthase, GM2 synthase, GM2/GD2 synthase, UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1, UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acety,
• Gene location: 12q13.3 (57633238: 57623408)     Exons: 12     NC_000012.12
• Gene summary(Entrez): 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, result
• OMIM: 601873

Protein Summary

• Protein general information: Q00973  
  • Name: Beta 1,4 N acetylgalactosaminyltransferase 1 (EC 2.4.1.92) ((N acetylneuraminyl) galactosylglucosylceramide) (GM2/GD2 synthase) (GalNAc T)
  • Length: 533  
  • Mass: 58882
• Sequence:

  MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLL
  AWNNCSCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQ
  GVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTY
  SSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIR
  RFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLE
  RTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFFLARTDKVREVG
  FDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKH
  RLQCMTSQ

• Structural information:
  • Interpro: IPR001173  IPR011143  IPR029044  
  • STRING: ENSP00000341562
• Other Databases: GeneCards:  B4GALNT1  Malacards:  B4GALNT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001574	ganglioside biosynthetic process	IBA	biological process
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0001574	ganglioside biosynthetic process	IDA	biological process
GO:0001574	ganglioside biosynthetic process	IDA	biological process
GO:0003947	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0003947	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0001574	ganglioside biosynthetic process	IMP	biological process
GO:0000139	Golgi membrane	ISS	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0003947	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IMP	molecular function
GO:0030173	integral component of Golgi membrane	IEA	cellular component
GO:0030259	lipid glycosylation	IEA	biological process
GO:0016758	transferase activity, transferring hexosyl groups	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003947	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0003947	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0006687	glycosphingolipid metabolic process	IEA	biological process
GO:0001574	ganglioside biosynthetic process	IEA	biological process
GO:0006688	glycosphingolipid biosynthetic process	IEA	biological process
GO:0006687	glycosphingolipid metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0001574	ganglioside biosynthetic process	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0019915	lipid storage	IEA	biological process
GO:0003947	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0003947	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00604	Glycosphingolipid biosynthesis - ganglio series

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881