B4GALT4 beta-1,4-galactosyltransferase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B4GALT4provided by HGNC
Official Full Name: beta-1,4-galactosyltransferase 4provided by HGNC
Primary source: HGNC:HGNC:927
See related: Ensembl:ENSG00000121578 MIM:604015; AllianceGenome:HGNC:927
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: B4Gal-T4; beta4Gal-T4
Summary: 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 similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in gall bladder (RPKM 16.8), colon (RPKM 15.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.32

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (119211742..119240878, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (121931449..121960629, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (118930589..118959725, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The critical role of B4GALT4 in promoting microtubule spindle assembly in HCC through the regulation of PLK1 and RHAMM expression.
Title: The critical role of B4GALT4 in promoting microtubule spindle assembly in HCC through the regulation of PLK1 and RHAMM expression.
N-glycosylation of the human beta1,4-galactosyltransferase 4 is crucial for its activity and Golgi localization.
Title: N-glycosylation of the human β1,4-galactosyltransferase 4 is crucial for its activity and Golgi localization.
expression of the beta4GalT4 gene is controlled by Sp1, and Sp1 plays a key role in the activation of the beta4GalT4 gene in colon cancer cells.
Title: Transcriptional Mechanism of the β4-Galactosyltransferase 4 Gene in SW480 Human Colon Cancer Cell Line.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

B4GALT4_8849 (e-PCR)
- UniSTS:467576

SHGC-77230 (e-PCR)
- UniSTS:55947

G54077 (e-PCR)
- UniSTS:109459

RH79045 (e-PCR)
- UniSTS:57238

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyllactosamine synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables UDP-galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratan sulfate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in keratan sulfate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lactosylceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: beta-1,4-galactosyltransferase 4

Names: N-acetyllactosamine synthase; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4; UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4; UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4; beta-1,4-GalTase 4; beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 4; lactotriaosylceramide beta-1,4-galactosyltransferase; nal synthase

NP_003769.1

EC 2.4.1.275

EC 2.4.1.90

NP_997708.1

EC 2.4.1.275

EC 2.4.1.90

XP_005247912.1

EC 2.4.1.275

EC 2.4.1.90

XP_006713861.1

EC 2.4.1.275

EC 2.4.1.90

XP_006713862.1

EC 2.4.1.275

EC 2.4.1.90

XP_006713863.1

EC 2.4.1.275

EC 2.4.1.90

XP_006713864.1

EC 2.4.1.275

EC 2.4.1.90

XP_011511562.1

EC 2.4.1.275

EC 2.4.1.90

XP_024309573.1

EC 2.4.1.275

EC 2.4.1.90

XP_024309574.1

EC 2.4.1.275

EC 2.4.1.90

XP_024309575.1

EC 2.4.1.275

EC 2.4.1.90

XP_047305076.1

EC 2.4.1.275

EC 2.4.1.90

XP_047305077.1

EC 2.4.1.275

EC 2.4.1.90

XP_047305078.1

EC 2.4.1.275

EC 2.4.1.90

XP_047305079.1

EC 2.4.1.275

EC 2.4.1.90

XP_047305080.1

EC 2.4.1.275

EC 2.4.1.90

XP_047305081.1

EC 2.4.1.275

EC 2.4.1.90

XP_047305082.1

EC 2.4.1.275

EC 2.4.1.90

XP_047305083.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204216.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204217.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204218.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204219.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204220.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204221.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204222.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204223.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204224.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204225.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204226.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204227.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204228.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204229.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204230.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204231.1

EC 2.4.1.275

EC 2.4.1.90

XP_054204232.1

EC 2.4.1.275

EC 2.4.1.90

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003778.4 → NP_003769.1 beta-1,4-galactosyltransferase 4

See identical proteins and their annotated locations for NP_003769.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' UTR, as compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AF038662, AK001006, AK123182, BX647468

Consensus CDS

CCDS2986.1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Related

ENSP00000377360.2, ENST00000393765.7

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
NM_212543.2 → NP_997708.1 beta-1,4-galactosyltransferase 4

See identical proteins and their annotated locations for NP_997708.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AF038662, AK001006, AK123182, AU099090

Consensus CDS

CCDS2986.1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Related

ENSP00000352144.3, ENST00000359213.7

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

119211742..119240878 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011513260.1 → XP_011511562.1 beta-1,4-galactosyltransferase 4 isoform X1

See identical proteins and their annotated locations for XP_011511562.1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_006713798.4 → XP_006713861.1 beta-1,4-galactosyltransferase 4 isoform X1

See identical proteins and their annotated locations for XP_006713861.1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_006713801.4 → XP_006713864.1 beta-1,4-galactosyltransferase 4 isoform X1

See identical proteins and their annotated locations for XP_006713864.1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_006713799.4 → XP_006713862.1 beta-1,4-galactosyltransferase 4 isoform X1

See identical proteins and their annotated locations for XP_006713862.1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_047449121.1 → XP_047305077.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_047449120.1 → XP_047305076.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_047449122.1 → XP_047305078.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_005247855.1 → XP_005247912.1 beta-1,4-galactosyltransferase 4 isoform X1

See identical proteins and their annotated locations for XP_005247912.1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_024453806.2 → XP_024309574.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_047449123.1 → XP_047305079.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_006713800.3 → XP_006713863.1 beta-1,4-galactosyltransferase 4 isoform X1

See identical proteins and their annotated locations for XP_006713863.1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Related

ENSP00000420161.1, ENST00000483209.5

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_024453805.2 → XP_024309573.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_024453807.1 → XP_024309575.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, B3KM35, D3DN79

Conserved Domains (1) summary

cd00899
Location:122 → 339

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_047449124.1 → XP_047305080.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_047449125.1 → XP_047305081.1 beta-1,4-galactosyltransferase 4 isoform X2

UniProtKB/TrEMBL

E7ETS9

Related

ENSP00000420665.1, ENST00000480814.5
XM_047449127.1 → XP_047305083.1 beta-1,4-galactosyltransferase 4 isoform X2

UniProtKB/TrEMBL

E7ETS9
XM_047449126.1 → XP_047305082.1 beta-1,4-galactosyltransferase 4 isoform X2

UniProtKB/TrEMBL

E7ETS9

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

121931449..121960629 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054348243.1 → XP_054204218.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348246.1 → XP_054204221.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348241.1 → XP_054204216.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348247.1 → XP_054204222.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348245.1 → XP_054204220.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348249.1 → XP_054204224.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348244.1 → XP_054204219.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348250.1 → XP_054204225.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348251.1 → XP_054204226.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348253.1 → XP_054204228.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348242.1 → XP_054204217.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348248.1 → XP_054204223.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348252.1 → XP_054204227.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348254.1 → XP_054204229.1 beta-1,4-galactosyltransferase 4 isoform X1

UniProtKB/Swiss-Prot

O60513, Q68D68, Q9BSW3, Q9C078

UniProtKB/TrEMBL

B2RAZ5, D3DN79
XM_054348256.1 → XP_054204231.1 beta-1,4-galactosyltransferase 4 isoform X2

UniProtKB/TrEMBL

E7ETS9
XM_054348255.1 → XP_054204230.1 beta-1,4-galactosyltransferase 4 isoform X2

UniProtKB/TrEMBL

E7ETS9
XM_054348257.1 → XP_054204232.1 beta-1,4-galactosyltransferase 4 isoform X2

UniProtKB/TrEMBL

E7ETS9