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

Gene ID: 9334, updated on 4-Oct-2020

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
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

Genomic context

See B4GALT5 in Genome Data Viewer
Location:
20q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (49632945..49713878, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48249482..48330421, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene prostaglandin I2 synthase Neighboring gene uncharacterized LOC101927486 Neighboring gene uncharacterized LOC105372651 Neighboring gene RNA, 7SL, cytoplasmic 197, pseudogene Neighboring gene small nuclear ribonucleoprotein polypeptide F pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
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
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138470

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyllactosamine synthase activity IEA
Inferred from Electronic Annotation
more info
 
UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
galactosyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
central nervous system myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
central nervous system neuron axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ganglioside biosynthetic process via lactosylceramide ISS
Inferred from Sequence or Structural Similarity
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
neuron maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
poly-N-acetyllactosamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
protein glycosylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein stability ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

  1. NM_004776.4NP_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
    O43286
    Related
    ENSP00000360776.4, ENST00000371711.4
    Conserved Domains (1) summary
    cd00899
    Location:161377
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    49632945..49713878 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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