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Aliases for B3GNTL1 Gene

Aliases for B3GNTL1 Gene

  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase Like 1 2 3 5
  • Beta1,3-N-Acetylglucosaminyltransferase-Like Protein 1 3 4
  • Beta-1,3-N-Acetylglucosaminyltransferase 8 3 4
  • Beta3Gn-T-Like Protein 1 3 4
  • BGnT-Like Protein 1 3 4
  • Beta-1,3-Gn-T8 3 4
  • Beta3Gn-T8 3 4
  • Beta3GnTL1 3 4
  • BGnT-8 3 4
  • B3GNT8 3 4
  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase-Like Protein 1 3
  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 8 3
  • EC 2.4.1.- 4
  • 3-Gn-T8 3
  • Beta-1 3

External Ids for B3GNTL1 Gene

Previous GeneCards Identifiers for B3GNTL1 Gene

  • GC17M081580
  • GC17U900469
  • GC17M078495
  • GC17M080901
  • GC17M076304

Summaries for B3GNTL1 Gene

GeneCards Summary for B3GNTL1 Gene

B3GNTL1 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase Like 1) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups.

UniProtKB/Swiss-Prot for B3GNTL1 Gene

  • Putative glycosyltransferase.

Additional gene information for B3GNTL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GNTL1 Gene

Genomics for B3GNTL1 Gene

GeneHancer (GH) Regulatory Elements for B3GNTL1 Gene

Promoters and enhancers for B3GNTL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I083050 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 574.8 -1.0 -960 4.4 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZBTB7B SLC30A9 ZNF766 B3GNTL1 ENSG00000260563 OGFOD3 METRNL HEXDC NARF-IT1 ENSG00000262652 ENSG00000265678 ARL2BPP9 CSNK1D
GH17I083046 Enhancer 1.2 Ensembl ENCODE 19.1 +3.2 3245 3.6 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 SLC30A9 FOS SP5 MXD4 B3GNTL1 METRNL PIR44293
GH17I083078 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.7 -32.7 -32728 11.2 HDGF PKNOX1 NEUROD1 SIN3A ZBTB7B BRCA1 ZNF766 GLIS2 ELK1 FOS METRNL ENSG00000265678 TBCD ENSG00000260563 OGFOD3 CCDC57 HEXDC NARF-IT1 ENSG00000262652 CSNK1D
GH17I083055 Enhancer 1 Ensembl ENCODE 19.1 -4.5 -4547 1.1 ATF1 FOXA2 SIN3A ZNF335 GLIS2 SCRT2 FOS ATF7 ZNF592 MEF2D B3GNTL1 METRNL
GH17I082880 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.8 +164.0 163983 13.9 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 GC17M082887 FN3KRP FN3K RAB40B ZNF750 WDR45B LOC101929552 TBCD B3GNTL1 NARF
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B3GNTL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B3GNTL1 gene promoter:

Genomic Locations for B3GNTL1 Gene

Genomic Locations for B3GNTL1 Gene
109,697 bases
Minus strand

Genomic View for B3GNTL1 Gene

Genes around B3GNTL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GNTL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GNTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GNTL1 Gene

Proteins for B3GNTL1 Gene

  • Protein details for B3GNTL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1
    Protein Accession:
    Secondary Accessions:
    • Q6GV30
    • Q8WUT3

    Protein attributes for B3GNTL1 Gene

    361 amino acids
    Molecular mass:
    40713 Da
    Quaternary structure:
    No Data Available

neXtProt entry for B3GNTL1 Gene

Post-translational modifications for B3GNTL1 Gene

  • Ubiquitination at posLast=271271
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for B3GNTL1 Gene

Domains & Families for B3GNTL1 Gene

Gene Families for B3GNTL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for B3GNTL1 Gene

Suggested Antigen Peptide Sequences for B3GNTL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 2 family.
  • Belongs to the glycosyltransferase 2 family.
genes like me logo Genes that share domains with B3GNTL1: view

Function for B3GNTL1 Gene

Molecular function for B3GNTL1 Gene

UniProtKB/Swiss-Prot Function:
Putative glycosyltransferase.

Enzyme Numbers (IUBMB) for B3GNTL1 Gene

Phenotypes From GWAS Catalog for B3GNTL1 Gene

Gene Ontology (GO) - Molecular Function for B3GNTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B3GNTL1: view
genes like me logo Genes that share phenotypes with B3GNTL1: view

miRNA for B3GNTL1 Gene

miRTarBase miRNAs that target B3GNTL1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for B3GNTL1 Gene

Localization for B3GNTL1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B3GNTL1 gene
Compartment Confidence
nucleus 3
peroxisome 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for B3GNTL1 Gene

Pathways & Interactions for B3GNTL1 Gene

genes like me logo Genes that share pathways with B3GNTL1: view

Pathways by source for B3GNTL1 Gene

Interacting Proteins for B3GNTL1 Gene

Gene Ontology (GO) - Biological Process for B3GNTL1 Gene


No data available for SIGNOR curated interactions for B3GNTL1 Gene

Drugs & Compounds for B3GNTL1 Gene

No Compound Related Data Available

Transcripts for B3GNTL1 Gene

Unigene Clusters for B3GNTL1 Gene

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GNTL1 Gene

No ASD Table

Relevant External Links for B3GNTL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for B3GNTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GNTL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B3GNTL1 Gene

This gene is overexpressed in Whole Blood (x7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for B3GNTL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of B3GNTL1 Gene:


SOURCE GeneReport for Unigene cluster for B3GNTL1 Gene:


mRNA Expression by UniProt/SwissProt for B3GNTL1 Gene:

Tissue specificity: Widely expressed. Highly expressed in adult pancreas. Expressed at moderate level in kidney, spleen, thymus, prostate, testis and ovary. Weakly expressed in small intestine, colon, peripheral blood leukocyte and liver.

Evidence on tissue expression from TISSUES for B3GNTL1 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with B3GNTL1: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GNTL1 Gene

Orthologs for B3GNTL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GNTL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC101058185 33
  • 100 (n)
B3GNTL1 34
  • 100 (a)
(Mus musculus)
Mammalia B3gntl1 33 16 34
  • 82.46 (n)
(Rattus norvegicus)
Mammalia B3gntl1 33
  • 82.46 (n)
(Canis familiaris)
Mammalia B3GNTL1 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia B3GNTL1 34
  • 74 (a)
(Monodelphis domestica)
Mammalia B3GNTL1 34
  • 66 (a)
(Gallus gallus)
Aves B3GNTL1 33 34
  • 69.21 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 65 (a)
-- 34
  • 62 (a)
(Danio rerio)
Actinopterygii b3gntl1 33 34
  • 65.19 (n)
(Caenorhabditis elegans)
Secernentea F13G3.6 33 34
  • 48.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
Species where no ortholog for B3GNTL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for B3GNTL1 Gene

Gene Tree for B3GNTL1 (if available)
Gene Tree for B3GNTL1 (if available)

Paralogs for B3GNTL1 Gene Pseudogenes for B3GNTL1 Gene

genes like me logo Genes that share paralogs with B3GNTL1: view

No data available for Paralogs for B3GNTL1 Gene

Variants for B3GNTL1 Gene

Sequence variations from dbSNP and Humsavar for B3GNTL1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000033274 -- 82,957,982(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000051607 -- 83,051,181(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000085324 -- 82,957,814(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000105996 -- 83,043,263(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000129675 -- 83,028,925(-) C/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for B3GNTL1 Gene

Variant ID Type Subtype PubMed ID
dgv1529n106 CNV deletion 24896259
dgv1833e59 CNV duplication 20981092
dgv1834e59 CNV duplication 20981092
dgv193e215 CNV deletion 23714750
dgv3296n100 CNV gain 25217958
dgv3297n100 CNV gain 25217958
dgv3298n100 CNV gain 25217958
dgv3299n100 CNV gain 25217958
dgv441e201 CNV deletion 23290073
dgv442e201 CNV deletion 23290073
dgv443e201 CNV deletion 23290073
dgv5807n54 CNV loss 21841781
esv1040276 CNV deletion 17803354
esv1055866 CNV insertion 17803354
esv1063912 CNV deletion 17803354
esv1073119 CNV insertion 17803354
esv1207311 CNV deletion 17803354
esv1288528 CNV deletion 17803354
esv1317334 CNV deletion 17803354
esv1364448 CNV insertion 17803354
esv1508603 CNV deletion 17803354
esv1522450 CNV insertion 17803354
esv1627319 CNV deletion 17803354
esv1777160 CNV deletion 17803354
esv1787320 CNV insertion 17803354
esv1789492 CNV insertion 17803354
esv1980223 CNV deletion 18987734
esv21913 CNV gain+loss 19812545
esv2337820 CNV deletion 18987734
esv2476328 CNV deletion 19546169
esv2512397 CNV deletion 19546169
esv2567730 CNV insertion 19546169
esv2656462 CNV deletion 23128226
esv2658570 CNV deletion 23128226
esv2663386 CNV deletion 23128226
esv2665906 CNV deletion 23128226
esv2668880 CNV deletion 23128226
esv2670486 CNV deletion 23128226
esv2678985 CNV deletion 23128226
esv2716566 CNV deletion 23290073
esv2716567 CNV deletion 23290073
esv2716568 CNV deletion 23290073
esv2716569 CNV deletion 23290073
esv2716570 CNV deletion 23290073
esv2716571 CNV deletion 23290073
esv2716572 CNV deletion 23290073
esv2716574 CNV deletion 23290073
esv2716576 CNV deletion 23290073
esv2716577 CNV deletion 23290073
esv2716578 CNV deletion 23290073
esv2716582 CNV deletion 23290073
esv2716583 CNV deletion 23290073
esv2716586 CNV deletion 23290073
esv2716587 CNV deletion 23290073
esv2716588 CNV deletion 23290073
esv2716589 CNV deletion 23290073
esv2716590 CNV deletion 23290073
esv2716591 CNV deletion 23290073
esv2716592 CNV deletion 23290073
esv2716593 CNV deletion 23290073
esv2716594 CNV deletion 23290073
esv2716595 CNV deletion 23290073
esv2716597 CNV deletion 23290073
esv2716598 CNV deletion 23290073
esv2716599 CNV deletion 23290073
esv2716600 CNV deletion 23290073
esv2741019 CNV deletion 23290073
esv2763172 CNV gain 21179565
esv3382554 CNV duplication 20981092
esv3554919 CNV deletion 23714750
esv3554920 CNV deletion 23714750
esv3554925 CNV deletion 23714750
esv3554926 CNV deletion 23714750
esv3582925 CNV loss 25503493
esv3641445 CNV gain 21293372
esv3641446 CNV gain 21293372
esv3641447 CNV loss 21293372
esv3641448 CNV loss 21293372
esv3641449 CNV gain 21293372
esv3893052 CNV gain 25118596
esv3893053 CNV gain 25118596
esv5160 CNV loss 18987735
esv998309 CNV deletion 20482838
nsv1057153 CNV loss 25217958
nsv1061524 CNV gain 25217958
nsv1063195 CNV gain 25217958
nsv1067553 CNV loss 25217958
nsv1071418 CNV deletion 25765185
nsv1071419 CNV deletion 25765185
nsv1078900 CNV insertion 25765185
nsv1109116 CNV deletion 24896259
nsv1112298 CNV deletion 24896259
nsv1116244 CNV deletion 24896259
nsv1119461 CNV insertion 24896259
nsv111962 CNV deletion 16902084
nsv1121534 CNV deletion 24896259
nsv112402 CNV deletion 16902084
nsv112440 CNV deletion 16902084
nsv1130712 CNV deletion 24896259
nsv1140243 CNV deletion 24896259
nsv1147783 CNV deletion 26484159
nsv428351 CNV gain 18775914
nsv512511 CNV loss 21212237
nsv529032 CNV loss 19592680
nsv576217 CNV loss 21841781
nsv576218 CNV loss 21841781
nsv576222 CNV loss 21841781
nsv817777 CNV loss 17921354
nsv820466 CNV deletion 20802225
nsv828147 CNV loss 20364138
nsv828148 CNV loss 20364138
nsv828149 CNV gain 20364138
nsv952397 CNV deletion 24416366
nsv952398 CNV deletion 24416366
nsv954558 CNV deletion 24416366
nsv954575 CNV deletion 24416366
nsv955426 CNV deletion 24416366

Variation tolerance for B3GNTL1 Gene

Residual Variation Intolerance Score: 88.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.25; 88.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B3GNTL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GNTL1 Gene

Disorders for B3GNTL1 Gene

Additional Disease Information for B3GNTL1

No disorders were found for B3GNTL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B3GNTL1 Gene

Publications for B3GNTL1 Gene

  1. Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase. (PMID: 15560372) Zheng H … Mao Y (Molecular biology reports 2004) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PMID: 19875614) Paterson AD … Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group (Diabetes 2010) 44 58
  4. A human protein-protein interaction network: a resource for annotating the proteome. (PMID: 16169070) Stelzl U … Wanker EE (Cell 2005) 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58

Products for B3GNTL1 Gene

Sources for B3GNTL1 Gene

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