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

    Gene ID: 79369, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122203709..122208952)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122199497..122204740)
    RS_2024_09 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)

    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-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    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
    		  
    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_2024_08

    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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