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B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 [ Homo sapiens (human) ]

Gene ID: 79369, updated on 5-Mar-2024

Summary

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Official Symbol
B3GNT4provided by HGNC
Official Full Name
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4provided by HGNC
Primary source
HGNC:HGNC:15683
See related
Ensembl:ENSG00000176383 MIM:605864; AllianceGenome:HGNC:15683
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
B3GN-T4; beta3Gn-T4
Summary
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 5.5), kidney (RPKM 3.8) and 25 other tissues See more
Orthologs
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Genomic context

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See B3GNT4 in Genome Data Viewer
Location:
12q24.31
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122203709..122208952)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122199497..122204740)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122688256..122693499)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122580754-122581254 Neighboring gene MLX interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122581255-122581755 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122582507-122583160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122583161-122583814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7205 Neighboring gene Sharpr-MPRA regulatory region 11163 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122611084-122611596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122611597-122612107 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:122614034-122615233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122622713-122623575 Neighboring gene MPRA-validated peak2016 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122651061-122651663 Neighboring gene leucine rich repeat containing 43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7209 Neighboring gene interleukin 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5011 Neighboring gene diablo IAP-binding mitochondrial protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122709001-122709906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7211 Neighboring gene Sharpr-MPRA regulatory region 2179 Neighboring gene uncharacterized LOC128125816 Neighboring gene uncharacterized LOC101593348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122711745-122712576 Neighboring gene VPS33A core subunit of CORVET and HOPS complexes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122750160-122751042

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Identification and characterization of three novel beta 1,3-N-acetylglucosaminyltransferases structurally related to the beta 1,3-galactosyltransferase family. Shiraishi N, et al. J Biol Chem, 2001 Feb 2. PMID 11042166
  2. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. Amado M, et al. Biochim Biophys Acta, 1999 Dec 6. PMID 10580128
  3. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Köttgen A, et al. Nat Genet, 2013 Feb. PMID 23263486, Free PMC Article
  4. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

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 analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity TAS
Traceable Author Statement
more info
  
enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS
Traceable Author Statement
more info
  
enables beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in O-glycan processing TAS
Traceable Author Statement
more info
  
involved_in keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in poly-N-acetyllactosamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in poly-N-acetyllactosamine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4
Names
BGnT-4
beta-1,3-Gn-T4
beta-1,3-N-acetylglucosaminyltransferase 4
beta-1,3-N-acetylglucosaminyltransferase bGn-T4
NP_001317421.1
NP_110392.1
XP_047285491.1
XP_054229180.1
XP_054229181.1

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)

  1. NM_001330492.2 → NP_001317421.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC048338
    Consensus CDS
    CCDS81751.1
    UniProtKB/Swiss-Prot
    Q9C0J1
    Related
    ENSP00000438840.1, ENST00000546192.1

  2. NM_030765.4 → NP_110392.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform 1

    See identical proteins and their annotated locations for NP_110392.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC048338
    Consensus CDS
    CCDS9227.1
    UniProtKB/Swiss-Prot
    Q8N5W4, Q8N934, Q8ND21, Q8WWR5, Q8WY02, Q96QH5, Q9C0J1
    Related
    ENSP00000319636.4, ENST00000324189.5
    Conserved Domains (1) summary
    cl21608
    Location:132 → 321
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    122203709..122208952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429535.1 → XP_047285491.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform X1

    Related
    ENSP00000444534.1, ENST00000535274.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    122199497..122204740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373206.1 → XP_054229181.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform X1

  2. XM_054373205.1 → XP_054229180.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform X2

    UniProtKB/Swiss-Prot
    Q8N5W4, Q8N934, Q8ND21, Q8WWR5, Q8WY02, Q96QH5, Q9C0J1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0J1.1 GenPept UniProtKB/Swiss-Prot:Q9C0J1

Gene LinkOut

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