Hs00829696_cn

• Gene Symbol: B4GALT1
• Assay Reference Genome Location: Chr.9:33120456 on build GRCh38
• Cytoband: 9p21.1

Target Gene Details

• Entrez Gene ID: 2683
• Gene Name: beta-1,4-galactosyltransferase 1
• Gene Aliases: B4GAL-T1, CDG2D, GGTB2, GT1, GTB, beta4Gal-T1
• Location: Chr.9:33110641-33167391 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B4GALT1	NM_001497.3			NP_001488.2
	XM_005251440.4			XP_005251497.1
	A23697.1			CAA01685.1
	AK296928.1
	AK297541.1
	AK312797.1
	AK316294.1
	BC045773.1			AAH45773.1
	BX648438.1
	D29805.1			BAA06188.1
	HG765099.1
	HG765101.1
	M13701.1			AAA35935.1
	M22921.1			AAA35936.1
	U10472.1			AAA68218.1
	U10473.1			AAA68219.1
	U10474.1			AAA68220.1
	X13223.1			CAA31611.1
	X14085.1			CAA32247.1
	X55415.1			CAA39073.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv614143	Chr.9:32583509 - 33141754 on Build GRCh38	Gain	SMU1 B4GALT1 TAF1L APTX TMEM215 DNAJA1
dgv7515n100	Chr.9:33042019 - 33241605 on Build GRCh38	Gain	B4GALT1-AS1 SMU1 B4GALT1 SPINK4
nsv509299	Chr.9:33048937 - 33173530 on Build GRCh38	Insertion	B4GALT1-AS1 SMU1 B4GALT1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

epithelial cell development
acute inflammatory response
lactose biosynthetic process
galactose metabolic process
protein N-linked glycosylation
cell adhesion
binding of sperm to zona pellucida
penetration of zona pellucida
negative regulation of cell proliferation
oligosaccharide biosynthetic process
keratan sulfate biosynthetic process
extracellular matrix organization
mammary gland development
development of secondary sexual characteristics
branching morphogenesis of an epithelial tube
leukocyte migration
regulation of cellular component movement
regulation of acrosome reaction
positive regulation of epithelial cell proliferation involved in wound healing
angiogenesis involved in wound healing
positive regulation of apoptotic process involved in mammary gland involution

Function(s)

beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
N-acetyllactosamine synthase activity
lactose synthase activity
cytoskeletal protein binding
galactosyltransferase activity
protein kinase binding
manganese ion binding
UDP-galactosyltransferase activity