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    B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 [ Homo sapiens (human) ]

    Gene ID: 146712, updated on 14-Apr-2024

    Summary

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    Official Symbol
    B3GNTL1provided by HGNC
    Official Full Name
    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1provided by HGNC
    Primary source
    HGNC:HGNC:21727
    See related
    Ensembl:ENSG00000175711 MIM:615337; AllianceGenome:HGNC:21727
    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
    QTGAL; B3GNT8; BGnT-8; beta-1; 3-Gn-T8; beta3Gn-T8; beta3GnTL1
    Summary
    Predicted to enable glycosyltransferase activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 1.9), skin (RPKM 1.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See B3GNTL1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82942149..83051770, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83817341..83941858, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80900025..81009646, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tubulin folding cofactor D Neighboring gene uncharacterized LOC124904096 Neighboring gene TBCD intron CAGE-defined B cell enhancer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:80833329-80834528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80840561-80841358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80842957-80843755 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:80853679-80853938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80856643-80857144 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:80877734-80878933 Neighboring gene uncharacterized LOC124904095 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:80935960-80937159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80942083-80942584 Neighboring gene Sharpr-MPRA regulatory region 7018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80968063-80968585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80975436-80976388 Neighboring gene uncharacterized LOC124904094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:81027516-81028068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:81039455-81040037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:81040631-81041190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:81041191-81041749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:81042649-81043176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:81045109-81045746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:81045747-81046384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:81048933-81049568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:81056168-81057164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:81066069-81066894 Neighboring gene meteorin like, glial cell differentiation regulator Neighboring gene CAGE-defined high expression enhancer downstream of METRNL Neighboring gene uncharacterized LOC101930496

    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. Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase. Zheng H, et al. Mol Biol Rep, 2004 Sep. PMID 15560372
    2. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    3. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
    4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    5. A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, et al. Cell, 2005 Sep 23. PMID 16169070

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. beta3-GnTL1 is similar to beta1, 3-N-acetylglucosaminyltransferase
      Title: Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126253, MGC126256

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables tRNA-queuosine(34) galactosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA modification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    queuosine-tRNA galactosyltransferase; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1
    Names
    BGnT-like protein 1
    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
    beta-1,3-Gn-T8
    beta-1,3-N-acetylglucosaminyltransferase 8
    beta1,3-N-acetylglucosaminyltransferase-like protein 1
    beta3Gn-T-like protein 1
    NP_001009905.2
    NP_001307671.1
    NP_001307672.1
    XP_006722337.3
    XP_047291349.1
    XP_047291351.1
    XP_047291352.1
    XP_047291353.1
    XP_047291354.1
    XP_054185176.1
    XP_054185177.1
    XP_054185178.1
    XP_054185179.1
    XP_054185180.1

    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_001009905.3 → NP_001009905.2  queuosine-tRNA galactosyltransferase isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC130371
      Consensus CDS
      CCDS32778.2
      UniProtKB/Swiss-Prot
      Q67FW5, Q6GV30, Q8WUT3
      Related
      ENSP00000319979.4, ENST00000320865.4
      Conserved Domains (1) summary
      cd06913
      Location:7 → 225
      beta3GnTL1_like; Beta 1, 3-N-acetylglucosaminyltransferase is essential for the formation of poly-N-acetyllactosamine

    2. NM_001320742.2 → NP_001307671.1  queuosine-tRNA galactosyltransferase isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon, resulting in a novel 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus, and is shorter than isoform a.
      Source sequence(s)
      AC130371
      Conserved Domains (2) summary
      cd06913
      Location:8 → 226
      beta3GnTL1_like; Beta 1, 3-N-acetylglucosaminyltransferase is essential for the formation of poly-N-acetyllactosamine
      COG0463
      Location:7 → 239
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

    3. NM_001320743.2 → NP_001307672.1  queuosine-tRNA galactosyltransferase isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (c) with a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC130371
      Consensus CDS
      CCDS82232.1
      UniProtKB/TrEMBL
      I3L232
      Related
      ENSP00000459327.1, ENST00000572977.5
      Conserved Domains (1) summary
      cl11394
      Location:1 → 62
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    RNA

    1. NR_135465.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC130371

    2. NR_135466.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents the use of an alternate promoter and differs in the 5' and 3' structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC130371, AK054757, DA405237

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      82942149..83051770 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435396.1 → XP_047291352.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X4

    2. XM_047435395.1 → XP_047291351.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X2

    3. XM_047435393.1 → XP_047291349.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X1

    4. XM_047435398.1 → XP_047291354.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X6

    5. XM_047435397.1 → XP_047291353.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X5

      UniProtKB/TrEMBL
      I3L4B6
      Related
      ENSP00000461127.1, ENST00000576599.5

    6. XM_006722274.3 → XP_006722337.3  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X3

    RNA

    1. XR_007065267.1 RNA Sequence

    2. XR_002957964.2 RNA Sequence

    3. XR_002957963.2 RNA Sequence

    4. XR_007065266.1 RNA Sequence

    5. XR_001752429.2 RNA Sequence

    6. XR_933927.3 RNA Sequence

    7. XR_007065268.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187612.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      51151..159276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329201.1 → XP_054185176.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X2

    2. XM_054329204.1 → XP_054185179.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X3

    3. XM_054329205.1 → XP_054185180.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X6

    4. XM_054329202.1 → XP_054185177.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X7

    5. XM_054329203.1 → XP_054185178.1  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform X5

      UniProtKB/TrEMBL
      I3L4B6

    RNA

    1. XR_008485627.1 RNA Sequence

    2. XR_008485625.1 RNA Sequence

    3. XR_008485624.1 RNA Sequence

    4. XR_008485626.1 RNA Sequence

    5. XR_008485628.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      83817341..83941858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q67FW5.3 GenPept UniProtKB/Swiss-Prot:Q67FW5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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