Hs00936988_cn

• Gene Symbol: B4GALT1
• Assay Reference Genome Location: Chr.9:33167062 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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B4GALT1	NM_001497.3	1	297	NP_001488.2
	XM_005251440.4	1	330	XP_005251497.1
	A23697.1	1	114	CAA01685.1
	AK296928.1	1	125
	AK312797.1	1	136
	AK316294.1
	BC045773.1	1	295	AAH45773.1
	D29805.1	1	180	BAA06188.1
	HG765099.1	1	142
	HG765101.1	1	142
	M22921.1	1	184	AAA35936.1
	U10474.1	1	184	AAA68220.1
	X13223.1	1	180	CAA31611.1
	X14085.1	1	172	CAA32247.1
	X55415.1	1	108	CAA39073.1

Target Gene Details

• Entrez Gene ID: 101929639
• Gene Name: B4GALT1 antisense RNA 1
• Gene Aliases: -
• Location: Chr.9:33166948-33179983 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B4GALT1-AS1	NR_108109.1
	NR_108110.1
	AB371488.1
	HY143413.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519369	Chr.9:33134619 - 33283163 on Build GRCh38	Gain	SPINK4 B4GALT1 CHMP5 B4GALT1-AS1 BAG1
dgv7515n100	Chr.9:33042019 - 33241605 on Build GRCh38	Gain	SPINK4 SMU1 B4GALT1 B4GALT1-AS1
nsv509299	Chr.9:33048937 - 33173530 on Build GRCh38	Insertion	SMU1 B4GALT1 B4GALT1-AS1
dgv7516n100	Chr.9:33121909 - 33278846 on Build GRCh38	Gain	SPINK4 B4GALT1 CHMP5 B4GALT1-AS1 BAG1
esv2762813	Chr.9:33139254 - 33261075 on Build GRCh38	Gain	SPINK4 B4GALT1 B4GALT1-AS1 BAG1

More Information

• Set Membership: Intragenic, Exonic, 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