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Aliases for B3GNT4 Gene

Aliases for B3GNT4 Gene

  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 4 2 3 4 5
  • Beta-1,3-N-Acetylglucosaminyltransferase 4 3 4
  • Beta-1,3-Gn-T4 3 4
  • Beta3Gn-T4 3 4
  • BGnT-4 3 4
  • N-Acetyllactosaminide Beta-1,3-N-Acetylglucosaminyltransferase 4 3
  • Beta-1,3-N-Acetylglucosaminyltransferase BGn-T4 3
  • EC 2.4.1.149 4
  • B3GN-T4 3

External Ids for B3GNT4 Gene

Previous GeneCards Identifiers for B3GNT4 Gene

  • GC12M121471
  • GC12M122667
  • GC12P122496
  • GC12P121125
  • GC12P121212
  • GC12P122689
  • GC12P119649

Summaries for B3GNT4 Gene

Entrez Gene Summary for B3GNT4 Gene

  • 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]

GeneCards Summary for B3GNT4 Gene

B3GNT4 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 4) is a Protein Coding gene. Among its related pathways are O-linked glycosylation and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is B3GNT9.

UniProtKB/Swiss-Prot for B3GNT4 Gene

  • Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides.

Additional gene information for B3GNT4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GNT4 Gene

Genomics for B3GNT4 Gene

GeneHancer (GH) Regulatory Elements for B3GNT4 Gene

Promoters and enhancers for B3GNT4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J122203 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.1 115 0.7 HDAC1 RB1 KLF17 ZNF335 GLIS2 EGR1 EGR2 SP3 ZBTB2 ZNF398 B3GNT4 VPS33A LOC101593348 LRRC43
GH12J122085 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.3 -109.9 -109892 15.5 PKNOX1 SMAD1 FOXA2 ARNT SIN3A FEZF1 ZNF766 REST ZNF592 SREBF1 MLXIP ENSG00000256546 LRRC43 B3GNT4 ARL6IP4 TMEM120B ENSG00000272849
GH12J122054 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.7 -148.1 -148132 2.4 PKNOX1 RB1 ARID4B SIN3A ZNF2 IRF4 ZNF48 RAD21 YY1 ZNF121 ENSG00000256546 LRRC43 B3GNT4 DIABLO MLXIP LOC100506691 BCL7A ENSG00000255856
GH12J122104 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.3 -93.7 -93696 10.2 PKNOX1 CLOCK FOXA2 FEZF1 ZBTB40 RARA ZNF121 ZSCAN5C FOS RUNX3 MLXIP ENSG00000256546 LRRC43 B3GNT4 IL31 RNU7-170P PSMD9 HPD ENSG00000256950
GH12J122002 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -198.7 -198656 4.1 POLR2A VEZF1 NRF1 CBFA2T3 KDM1A RUNX3 ZNF395 WDR66 PSMD9 HPD LINC01089 SETD1B ENSG00000256950 LRRC43 B3GNT4 DIABLO BCL7A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B3GNT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B3GNT4 gene promoter:

Genomic Locations for B3GNT4 Gene

Genomic Locations for B3GNT4 Gene
chr12:122,203,543-122,208,952
(GRCh38/hg38)
Size:
5,410 bases
Orientation:
Plus strand
chr12:122,688,090-122,693,499
(GRCh37/hg19)

Genomic View for B3GNT4 Gene

Genes around B3GNT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GNT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GNT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GNT4 Gene

Proteins for B3GNT4 Gene

  • Protein details for B3GNT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0J1-B3GN4_HUMAN
    Recommended name:
    N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4
    Protein Accession:
    Q9C0J1
    Secondary Accessions:
    • Q8N5W4
    • Q8N934
    • Q8ND21
    • Q8WWR5
    • Q8WY02
    • Q96QH5

    Protein attributes for B3GNT4 Gene

    Size:
    378 amino acids
    Molecular mass:
    42310 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL37219.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for B3GNT4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B3GNT4 Gene

Post-translational modifications for B3GNT4 Gene

  • Glycosylation at posLast=192192
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GNT4 Gene

No data available for DME Specific Peptides for B3GNT4 Gene

Domains & Families for B3GNT4 Gene

Gene Families for B3GNT4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for B3GNT4 Gene

Suggested Antigen Peptide Sequences for B3GNT4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9C0J1

UniProtKB/Swiss-Prot:

B3GN4_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GNT4: view

Function for B3GNT4 Gene

Molecular function for B3GNT4 Gene

UniProtKB/Swiss-Prot Function:
Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-R.

Enzyme Numbers (IUBMB) for B3GNT4 Gene

Phenotypes From GWAS Catalog for B3GNT4 Gene

Gene Ontology (GO) - Molecular Function for B3GNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IBA --
GO:0008376 acetylgalactosaminyltransferase activity IBA --
GO:0008378 galactosyltransferase activity IEA --
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS --
GO:0008532 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IEA,TAS --
genes like me logo Genes that share ontologies with B3GNT4: view
genes like me logo Genes that share phenotypes with B3GNT4: view

Animal Model Products

miRNA for B3GNT4 Gene

miRTarBase miRNAs that target B3GNT4

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for B3GNT4 Gene

Localization for B3GNT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GNT4 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
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 B3GNT4 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for B3GNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IBA --
GO:0005794 Golgi apparatus IEA,IBA --
GO:0016020 membrane IEA,IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GNT4: view

Pathways & Interactions for B3GNT4 Gene

genes like me logo Genes that share pathways with B3GNT4: view

UniProtKB/Swiss-Prot Q9C0J1-B3GN4_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B3GNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA,IBA --
GO:0006493 protein O-linked glycosylation IBA --
GO:0016266 O-glycan processing TAS --
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0030311 poly-N-acetyllactosamine biosynthetic process IDA 11042166
genes like me logo Genes that share ontologies with B3GNT4: view

No data available for SIGNOR curated interactions for B3GNT4 Gene

Drugs & Compounds for B3GNT4 Gene

No Compound Related Data Available

Transcripts for B3GNT4 Gene

mRNA/cDNA for B3GNT4 Gene

Unigene Clusters for B3GNT4 Gene

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GNT4 Gene

No ASD Table

Relevant External Links for B3GNT4 Gene

GeneLoc Exon Structure for
B3GNT4
ECgene alternative splicing isoforms for
B3GNT4

Expression for B3GNT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GNT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B3GNT4 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.6), Brain - Cortex (x5.5), and Brain - Hippocampus (x4.7).

NURSA nuclear receptor signaling pathways regulating expression of B3GNT4 Gene:

B3GNT4

SOURCE GeneReport for Unigene cluster for B3GNT4 Gene:

Hs.363315

mRNA Expression by UniProt/SwissProt for B3GNT4 Gene:

Q9C0J1-B3GN4_HUMAN
Tissue specificity: Mainly expressed in brain tissues such as whole brain, hippocampus, amygdala, cerebellum and caudate nucleus. Also expressed in colon, esophagus and kidney.

Evidence on tissue expression from TISSUES for B3GNT4 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with B3GNT4: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GNT4 Gene

Orthologs for B3GNT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GNT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GNT4 34 33
  • 98.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia B3GNT4 34 33
  • 86.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia B3GNT4 34 33
  • 85.32 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3gnt4 33
  • 82.71 (n)
mouse
(Mus musculus)
Mammalia B3gnt4 16 34 33
  • 80.98 (n)
oppossum
(Monodelphis domestica)
Mammalia B3GNT4 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GNT4 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GNT4 34 33
  • 65.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GNT4 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gnt4 33
  • 61.66 (n)
Str.20273 33
zebrafish
(Danio rerio)
Actinopterygii b3gnt7l 34
  • 33 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30036 33
  • 45.93 (n)
Species where no ortholog for B3GNT4 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for B3GNT4 Gene

ENSEMBL:
Gene Tree for B3GNT4 (if available)
TreeFam:
Gene Tree for B3GNT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B3GNT4: view image

Paralogs for B3GNT4 Gene

(8) SIMAP similar genes for B3GNT4 Gene using alignment to 1 proteins:

  • B3GN4_HUMAN
genes like me logo Genes that share paralogs with B3GNT4: view

Variants for B3GNT4 Gene

Sequence variations from dbSNP and Humsavar for B3GNT4 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1057519151 uncertain-significance, not provided 122,208,389(+) CACGCAGGTAG/ downstream_transcript_variant
rs150199226 benign, not specified 122,208,431(+) C/T downstream_transcript_variant
rs35426428 benign, not specified 122,208,411(+) C/T downstream_transcript_variant
rs1000342979 -- 122,203,752(+) C/T 5_prime_UTR_variant
rs1000839607 -- 122,203,989(+) C/T intron_variant

Variation tolerance for B3GNT4 Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.32; 90.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B3GNT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GNT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for B3GNT4 Gene

Disorders for B3GNT4 Gene

Additional Disease Information for B3GNT4

No disorders were found for B3GNT4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B3GNT4 Gene

Publications for B3GNT4 Gene

  1. Identification and characterization of three novel beta 1,3-N-acetylglucosaminyltransferases structurally related to the beta 1,3-galactosyltransferase family. (PMID: 11042166) Shiraishi N … Sasaki K (The Journal of biological chemistry 2001) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  4. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PMID: 10580128) Amado M … Clausen H (Biochimica et biophysica acta 1999) 3 4 58
  5. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PMID: 23263486) Köttgen A … Gieger C (Nature genetics 2013) 3 58

Products for B3GNT4 Gene

Sources for B3GNT4 Gene

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