Gene: B4GALT1 ENSG00000086062

Description

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 [Source:HGNC Symbol;Acc:924]

Gene Synonyms

B4GAL-T1, CDG2D, GGTB2, GT1, GTB, beta4Gal-T1

Location

GRCh37:CM000671.1

About this gene

This gene has 3 transcripts (splice variants), 6 paralogues and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000379731.4	B4GALT1-001	4201	398aa	ENSP00000369055.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6535	B4DMM8 B7ZAH9 P15291	NM_001497.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000535206.1	B4GALT1-201	1535	225aa	ENSP00000440341.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q86XA6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000541851.1	B4GALT1-202	799	145aa	ENSP00000445037.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DMM8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

EMBL-EBI User Survey 2024