• Gene id: 2683

Gene Summary

• Gene Symbol: B4GALT1   Gene   UCSC   Ensembl
• Aliases: B4GAL-T1, CDG2D, GGTB2, GT1, GTB, beta4Gal-T1
• Gene name: beta-1,4-galactosyltransferase 1
• Alternate names: beta-1,4-galactosyltransferase 1, N-acetyllactosamine synthase, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1, UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1, be,
• Gene location: 9p21.1 (33167335: 33104076)     Exons: 7     NC_000009.12
• Gene summary(Entrez): This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to si
• OMIM: 137060

Protein Summary

• Protein general information: P15291  
  • Name: Beta 1,4 galactosyltransferase 1 (Beta 1,4 GalTase 1) (Beta4Gal T1) (b4Gal T1) (EC 2.4.1. ) (Beta N acetylglucosaminyl glycolipid beta 1,4 galactosyltransferase) (Beta N acetylglucosaminylglycopeptide beta 1,4 galactosyltransferase) (EC 2.4.1.38) (Lactose
  • Length: 398  
  • Mass: 43920
  • Tissue specificity: Ubiquitously expressed, but at very low levels in fetal and adult brain.
• Sequence:

  MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPLQGGSNSAAAIGQSSG
  ELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVD
  LELVAKQNPNVKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRA
  KLLNVGFQEALKDYDYTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTI
  NGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLT
  YQVLDVQRYPLYTQITVDIGTPS

• Structural information:
  • Interpro: IPR003859  IPR027791  IPR027995  IPR029044  
  • PDB: 2AE7 2AEC 2AES 2AGD 2AH9 2FY7 2FYA 2FYB 3EE5 4EE3 4EE4 4EE5 4EEA 4EEG 4EEM 4EEO 4L41 6FWT 6FWU
  • PDBsum: 2AE7 2AEC 2AES 2AGD 2AH9 2FY7 2FYA 2FYB 3EE5 4EE3 4EE4 4EE5 4EEA 4EEG 4EEM 4EEO 4L41 6FWT 6FWU
  • STRING: ENSP00000369055
• Other Databases: GeneCards:  B4GALT1  Malacards:  B4GALT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030145	manganese ion binding	IDA	molecular function
GO:0006487	protein N-linked glycosylation	IDA	biological process
GO:0003831	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0003945	N-acetyllactosamine synthase activity	IEA	molecular function
GO:0003831	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IEA	molecular function
GO:0004461	lactose synthase activity	IEA	molecular function
GO:0004461	lactose synthase activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005989	lactose biosynthetic process	TAS	biological process
GO:0007339	binding of sperm to zona pellucida	TAS	biological process
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0007341	penetration of zona pellucida	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008378	galactosyltransferase activity	IEA	molecular function
GO:0009101	glycoprotein biosynthetic process	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0045136	development of secondary sexual characteristics	IEA	biological process
GO:0050900	leukocyte migration	IEA	biological process
GO:0060046	regulation of acrosome reaction	IEA	biological process
GO:0060054	positive regulation of epithelial cell proliferation involved in wound healing	IEA	biological process
GO:0002064	epithelial cell development	IEA	biological process
GO:0002526	acute inflammatory response	IEA	biological process
GO:0003831	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005989	lactose biosynthetic process	IEA	biological process
GO:0006012	galactose metabolic process	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007339	binding of sperm to zona pellucida	IEA	biological process
GO:0009312	oligosaccharide biosynthetic process	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0060055	angiogenesis involved in wound healing	IEA	biological process
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0035250	UDP-galactosyltransferase activity	IDA	molecular function
GO:0031526	brush border membrane	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0003945	N-acetyllactosamine synthase activity	IDA	molecular function
GO:0003831	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA	molecular function
GO:0030057	desmosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0009312	oligosaccharide biosynthetic process	IDA	biological process
GO:0004461	lactose synthase activity	IDA	molecular function
GO:0003945	N-acetyllactosamine synthase activity	IDA	molecular function
GO:0000138	Golgi trans cisterna	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0008378	galactosyltransferase activity	NAS	molecular function
GO:0009312	oligosaccharide biosynthetic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis
hsa00514	Other types of O-glycan biosynthesis
hsa00513	Various types of N-glycan biosynthesis
hsa00052	Galactose metabolism
hsa00601	Glycosphingolipid biosynthesis - lacto and neolacto series
hsa00515	Mannose type O-glycan biosynthesis
hsa00533	Glycosaminoglycan biosynthesis - keratan sulfate

Diseases

Associated diseases	References
Congenital disorders of glycosylation type II	KEGG:H00119
Congenital disorders of glycosylation type II	KEGG:H00119
Congenital disorder of glycosylation	PMID:11901181
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881