B4GALT5 beta-1,4-galactosyltransferase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B4GALT5provided by HGNC
Official Full Name: beta-1,4-galactosyltransferase 5provided by HGNC
Primary source: HGNC:HGNC:928
See related: Ensembl:ENSG00000158470 MIM:604016; AllianceGenome:HGNC:928
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: gt-V; B4Gal-T5; beta4Gal-T5; beta4GalT-V; BETA4-GALT-IV
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 function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 36.1), adrenal (RPKM 25.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (49632945..49713878, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (51402498..51483440, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (48249482..48330415, complement)

Chromosome 20 - NC_000020.11 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?

Circ_0009910 sponges miR-491-5p to promote acute myeloid leukemia progression through modulating B4GALT5 expression and PI3K/AKT signaling pathway.
Title: Circ_0009910 sponges miR-491-5p to promote acute myeloid leukemia progression through modulating B4GALT5 expression and PI3K/AKT signaling pathway.
Hsc70 Interacts with beta4GalT5 to Regulate the Growth of Gliomas.
Title: Hsc70 Interacts with β4GalT5 to Regulate the Growth of Gliomas.
Results demonstrated B4GalT5 downregulation improved insulin resistance by promoting adipogenic commitment and decreasing M1 macrophage infiltration.
Title: Downregulation of β1,4-galactosyltransferase 5 improves insulin resistance by promoting adipocyte commitment and reducing inflammation.
beta-1,4-GalT-V gene/protein expression is specifically increased in colorectal cancer, compared to visibly normal tissue. Furthermore, we observed a marked increase in its enzymatic activity, and its product lactosylceramide. beta-1,4-GalT-V may serve as a diagnostic and therapeutic biomarker for the progression of colorectal cancer.
Title: Lactosylceramide synthase β-1,4-GalT-V: A novel target for the diagnosis and therapy of human colorectal cancer.
2.3-kb 5'-flanking region of the human beta-1,4-GalT V gene was cloned and the region -116/-18 relative to the transcription start site as that having promoter activity.
Title: Transcriptional regulation of the human beta-1,4-galactosyltransferase V gene in cancer cells: essential role of transcription factor Sp1.
B4GALT1 and B4GALT5, two members of B4GALT gene family, are involved in the development of multidrug resistance of human leukemia cells.
Title: B4GALT family mediates the multidrug resistance of human leukemia cells by regulating the hedgehog pathway and the expression of p-glycoprotein and multidrug resistance-associated protein 1.
The expression of the beta-1,4-GalT V gene has been shown to be regulated by transcription factors Sp1 and Ets-1 in cancer cells.(review)
Title: [Regulation of human β-1,4-galactosyltransferase V gene expression in cancer cells].
These data reveal a critical role of beta1,4GalT V in the self-renewal and tumorigenicity of glioma-initiating cells.
Title: Beta1,4-galactosyltransferase V regulates self-renewal of glioma-initiating cell.
sulfated keratan sulfate is produced by beta3GNT7, beta4GalT4, CGn6ST, and KSG6ST
Title: Enzymes responsible for synthesis of corneal keratan sulfate glycosaminoglycans.
Ets-1 enhances expression of the beta-1,4-GalT V gene through activation of the Sp1 gene in cancer cells
Title: Sequential action of Ets-1 and Sp1 in the activation of the human beta-1,4-galactosyltransferase V gene involved in abnormal glycosylation characteristic of cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486405

RH47120 (e-PCR)
- UniSTS:53525

NoName (e-PCR)
- UniSTS:482079

Z94405 (e-PCR)
- UniSTS:7465

AL034501 (e-PCR)
- UniSTS:94253

RH34 (e-PCR)
- UniSTS:89390

RH66750 (e-PCR)
- UniSTS:28725

Z94493 (e-PCR)
- UniSTS:10372

AL022254 (e-PCR)
- UniSTS:21912

NoName (e-PCR)
- UniSTS:480948

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyllactosamine synthase activity	IEA Inferred from Electronic Annotation more info
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables galactosyltransferase activity	TAS Traceable Author Statement 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 O-glycan processing	TAS Traceable Author Statement more info
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in central nervous system myelination	ISS Inferred from Sequence or Structural Similarity more info
involved_in central nervous system neuron axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ganglioside biosynthetic process via lactosylceramide	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycoprotein biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in poly-N-acetyllactosamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein glycosylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein stability	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: beta-1,4-galactosyltransferase 5

Names: UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5; UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5; beta-1,4-GalT II; beta-1,4-GalT IV; beta-1,4-GalTase 5; beta-1.4-galactosyltransferase V; beta4-GalT IV; glucosylceramide beta-1,4-galactosyltransferase; lacCer synthase; lactosylceramide synthase

NP_004767.1

EC 2.4.1.274

XP_047296543.1

EC 2.4.1.274

XP_047296544.1

EC 2.4.1.274

XP_054180201.1

EC 2.4.1.274

XP_054180202.1

EC 2.4.1.274

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_004776.4 → NP_004767.1 beta-1,4-galactosyltransferase 5

See identical proteins and their annotated locations for NP_004767.1

Status: VALIDATED

Source sequence(s)

AL035683, BC104987, BG939833, DR000345

Consensus CDS

CCDS13420.1

UniProtKB/Swiss-Prot

E1P625, O43286, Q2M394, Q9UJQ8, U6C5D7

Related

ENSP00000360776.4, ENST00000371711.4

Conserved Domains (1) summary

cd00899
Location:161 → 377

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