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

Gene ID: 146712, updated on 20-Nov-2023

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
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
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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 glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
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  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 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  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 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
    UniProtKB/Swiss-Prot
    Q67FW5, Q6GV30, Q8WUT3
    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  UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 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

    UniProtKB/Swiss-Prot
    Q67FW5, Q6GV30, Q8WUT3

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

    UniProtKB/Swiss-Prot
    Q67FW5, Q6GV30, Q8WUT3

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

    UniProtKB/Swiss-Prot
    Q67FW5, Q6GV30, Q8WUT3

  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

    UniProtKB/Swiss-Prot
    Q67FW5, Q6GV30, Q8WUT3

  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
Q67FW5.2 GenPept UniProtKB/Swiss-Prot:Q67FW5

Gene LinkOut

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