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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] See more...
Aliases for B3GNT4 Gene
Aliases for B3GNT4 Gene
External Ids for B3GNT4 Gene
- HGNC: 15683
- Entrez Gene: 79369
- Ensembl: ENSG00000176383
- OMIM: 605864
- UniProtKB: Q9C0J1
Previous GeneCards Identifiers for B3GNT4 Gene
- GC12M121471
- GC12M122667
- GC12P122496
- GC12P121125
- GC12P121212
- GC12P122689
- GC12P119649
Summaries 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. Diseases associated with B3GNT4 include Dowling-Degos Disease. Among its related pathways are Metabolism of proteins and Glycosphingolipid biosynthesis - lacto and neolacto series. 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 B3GNT7.
UniProtKB/Swiss-Prot Summary 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
- HGNC(15683)
- Entrez Gene(79369)
- Ensembl(ENSG00000176383)
- OMIM(605864)
- UniProtKB(Q9C0J1)
- Open Targets Platform(ENSG00000176383)
- Search for B3GNT4 at DataMed
- Search for B3GNT4 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B3GNT4 Gene
Genomics for B3GNT4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for B3GNT4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around B3GNT4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B3GNT4
- Top Transcription factor binding sites by QIAGEN in the B3GNT4 gene promoter:
-
- ATF-2
- Brachyury
- c-Jun
- Meis-1
- Meis-1a
- Meis-1b
- STAT1
- STAT1alpha
- STAT1beta
- STAT3
Genomic Locations for B3GNT4 Gene
Genomic Locations for B3GNT4 Gene
- chr12:122,203,681-122,208,952
- (GRCh38/hg38)
- Size:
- 5,272 bases
- Orientation:
- Plus strand
- chr12:122,688,090-122,693,499
- (GRCh37/hg19)
- Size:
- 5,410 bases
- Orientation:
- Plus strand
Genomic View for B3GNT4 Gene
Genes around B3GNT4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
B3GNT4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Post-translational modifications for B3GNT4 Gene
Other Protein References for B3GNT4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
Abcam antibodies for B3GNT4
- Invitrogen Antibodies for B3GNT4 (AFLGC-B3GNT4)
- antibodies-online: Show 11 available B3GNT4 Antibodies ranked by validation data
-
Biorbyt antibodies for B3GNT4
Protein Products
-
OriGene Purified Proteins for B3GNT4
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-
Abcam proteins for B3GNT4
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
Protein Domains for B3GNT4 Gene
- InterPro:
- Blocks:
-
- Glycosyl transferase, family 31
- ProtoNet:
Suggested Antigen Peptide Sequences for B3GNT4 Gene
- GenScript: Design optimal peptide antigens:
-
- UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GN4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9C0J1- Family:
-
- Belongs to the glycosyltransferase 31 family.
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:
- Reaction=a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-glucosamine = an N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP; Xref=Rhea:RHEA:14389, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:133507, ChEBI:CHEBI:134090; EC=2.4.1.149; Evidence={ECO:0000269|PubMed:11042166};.
Enzyme Numbers (IUBMB) for B3GNT4 Gene
Phenotypes From GWAS Catalog for B3GNT4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008375 | acetylglucosaminyltransferase activity | IBA | 21873635 |
| GO:0008376 | acetylgalactosaminyltransferase activity | IBA | 21873635 |
| GO:0008378 | galactosyltransferase activity | IEA | -- |
| GO:0008457 | beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity | IEA | -- |
| GO:0008532 | N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity | IEA,IDA | 11042166 |
Phenotypes for B3GNT4 Gene
- GenomeRNAi human phenotypes for B3GNT4:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- shRNA abundance <= 50%
- Increased G1 DNA content
- Reduced mammosphere formation
- Increased transferrin (TF) endocytosis
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Polylobed nuclei
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTEN-/- and PTEN+/+
- G0/1 arrest
- Increased homologous recombination repair frequency
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B3GNT4 - Select products 50% OFF >
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miRNA for B3GNT4 Gene
- miRTarBase miRNAs that target B3GNT4
miRNA Products
Inhibitory RNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for B3GNT4
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.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| endoplasmic reticulum | 3 |
| mitochondrion | 1 |
| lysosome | 1 |
| plasma membrane | 0 |
| extracellular | 0 |
| peroxisome | 0 |
| nucleus | 0 |
| cytosol | 0 |
- Mitochondria (2)
- Nucleoli (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005783 | endoplasmic reticulum | IBA | -- |
| GO:0005794 | Golgi apparatus | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for B3GNT4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Glycosaminoglycan metabolism | ||
| 3 | Keratan sulfate/keratin metabolism | ||
| 4 | Metabolism of proteins | ||
| 5 | O-linked glycosylation | ||
Pathways by source for B3GNT4 Gene
9 Reactome pathways for B3GNT4 Gene
2 KEGG pathways for B3GNT4 Gene
UniProtKB/Swiss-Prot Q9C0J1-B3GN4_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for B3GNT4 Gene
GPS-Prot Interaction Network for B3GNT4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IBA | 21873635 |
| 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 |
No data available for SIGNOR curated interactions for B3GNT4 Gene
Transcripts for B3GNT4 Gene
mRNA/cDNA for B3GNT4 Gene
- 2 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000324189 2891 nts (view in UCSC)
- ENST00000546192 2749 nts (view in UCSC)
- ENST00000545141 663 nts (view in UCSC)
- ENST00000537991 552 nts (view in UCSC)
- ENST00000538257 447 nts (view in UCSC)
CRISPR Products
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-
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for B3GNT4 - Select products 50% OFF >
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B3GNT4
Relevant External Links for B3GNT4 Gene
- GeneLoc Exon Structure for
- B3GNT4
Expression for B3GNT4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Secondary Oocyte Antral Follicle
-
Gonad
- Secondary Oocyte Antral Follicle
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).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B3GNT4
SOURCE GeneReport for Unigene cluster for B3GNT4 Gene:
Hs.363315mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for B3GNT4
-
OriGene qPCR primer pairs and template standards for B3GNT4
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | B3GNT4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | B3GNT4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | B3GNT4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | B3gnt4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | B3gnt4 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | B3GNT4 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | B3GNT4 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | B3GNT4 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | B3GNT4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b3gnt4 30 |
|
||
| Str.20273 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | b3gnt7l 31 |
|
ManyToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG30036 30 |
|
- Species where no ortholog for B3GNT4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Paralogs for B3GNT4 Gene
(8) SIMAP similar genes for B3GNT4 Gene using alignment to 1 proteins:
- B3GN4_HUMAN
Variants for B3GNT4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B3GNT4 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519151 | Uncertain Significance: not provided | 122,208,388(+) | TCACGCAGGTAG/T | FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT | |
| rs1223091168 | Likely Benign: not specified | 122,208,441(+) | T/C | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
| rs149387774 | Benign/Likely Benign: not specified; not provided | 122,208,555(+) | G/A | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
| rs150199226 | Benign/Likely Benign: not specified; not provided | 122,208,431(+) | C/T | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
| rs35426428 | Benign: not specified | 122,208,411(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dowling-degos disease |
|
|
Search B3GNT4 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for B3GNT4
No data available for UniProtKB/Swiss-Prot and Genatlas for B3GNT4 Gene
Publications for B3GNT4 Gene
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- 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
- 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
- Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PMID: 23263486) Köttgen A … Gieger C (Nature genetics 2013) 3
ExternalLinks
Products for B3GNT4 Gene
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- antibodies-online: Show 11 available B3GNT4 Antibodies ranked by validation data
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- Biorbyt antibodies for B3GNT4
Sources for B3GNT4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
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