Aliases for B4GALNT4 Gene

Aliases for B4GALNT4 Gene

  • Beta-1,4-N-Acetyl-Galactosaminyltransferase 4 2 3 5
  • NGalNAc-T1 2 3 4
  • N-Acetyl-Beta-Glucosaminyl-Glycoprotein 4-Beta-N-Acetylgalactosaminyltransferase 1 3 4
  • N-Acetyl-Beta-Glucosaminyl-Glycoprotein 4-Beta-N- Acetylgalactosaminyltransferase 2 3
  • Beta-1,4-N-Acetylgalactosaminyltransferase IV 3 4
  • Beta4GalNAc-T4 3 4
  • Beta4GalNAcT4 3 4
  • Beta-1,4-N-Acetyl-Galactosaminyl Transferase 4 3
  • Beta1,4-N-Acetylgalactosaminyltransferases IV 3
  • EC 2.4.1.244 4
  • B4GALNT4 5
  • FLJ25045 2
  • BetaGT4 3

External Ids for B4GALNT4 Gene

Previous GeneCards Identifiers for B4GALNT4 Gene

  • GC11P000360
  • GC11P000361
  • GC11P000362
  • GC11P000363
  • GC11P000364
  • GC11P000365
  • GC11P000366
  • GC11P000368
  • GC11P000189

Summaries for B4GALNT4 Gene

GeneCards Summary for B4GALNT4 Gene

B4GALNT4 (Beta-1,4-N-Acetyl-Galactosaminyltransferase 4) is a Protein Coding gene. Among its related pathways are Metabolism and N-Glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include acetylgalactosaminyltransferase activity and N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT3.

UniProtKB/Swiss-Prot Summary for B4GALNT4 Gene

  • Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans.

Additional gene information for B4GALNT4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALNT4 Gene

Genomics for B4GALNT4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for B4GALNT4 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 B4GALNT4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALNT4

Top Transcription factor binding sites by QIAGEN in the B4GALNT4 gene promoter:
  • AREB6
  • ATF
  • c-Myc
  • E47
  • Egr-1
  • HSF2
  • Max
  • Max1
  • N-Myc
  • SEF-1 (1)

Genomic Locations for B4GALNT4 Gene

Genomic Locations for B4GALNT4 Gene
chr11:369,499-382,117
(GRCh38/hg38)
Size:
12,619 bases
Orientation:
Plus strand
chr11:369,795-382,117
(GRCh37/hg19)
Size:
12,323 bases
Orientation:
Plus strand

Genomic View for B4GALNT4 Gene

Genes around B4GALNT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALNT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GALNT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALNT4 Gene

Proteins for B4GALNT4 Gene

  • Protein details for B4GALNT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q76KP1-B4GN4_HUMAN
    Recommended name:
    N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1
    Protein Accession:
    Q76KP1
    Secondary Accessions:
    • Q96LV2

    Protein attributes for B4GALNT4 Gene

    Size:
    1039 amino acids
    Molecular mass:
    116513 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71566.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for B4GALNT4 Gene

Post-translational modifications for B4GALNT4 Gene

  • Glycosylation at Asn105
  • Modification sites at PhosphoSitePlus

Other Protein References for B4GALNT4 Gene

No data available for DME Specific Peptides for B4GALNT4 Gene

Domains & Families for B4GALNT4 Gene

Gene Families for B4GALNT4 Gene

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

Protein Domains for B4GALNT4 Gene

Suggested Antigen Peptide Sequences for B4GALNT4 Gene

GenScript: Design optimal peptide antigens:
  • B4GALNT4 protein (A2VDJ5_HUMAN)
  • Beta-1,4-N-acetylgalactosaminyltransferase IV (B4GN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q76KP1

UniProtKB/Swiss-Prot:

B4GN4_HUMAN :
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
Family:
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
genes like me logo Genes that share domains with B4GALNT4: view

Function for B4GALNT4 Gene

Molecular function for B4GALNT4 Gene

UniProtKB/Swiss-Prot Function:
Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-galactosamine = an N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP; Xref=Rhea:RHEA:20493, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:61631, ChEBI:CHEBI:67138, ChEBI:CHEBI:138027; EC=2.4.1.244; Evidence={ECO:0000269|PubMed:15044014};.

Enzyme Numbers (IUBMB) for B4GALNT4 Gene

Phenotypes From GWAS Catalog for B4GALNT4 Gene

Gene Ontology (GO) - Molecular Function for B4GALNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008376 acetylgalactosaminyltransferase activity IDA 15044014
GO:0016740 transferase activity IEA --
GO:0033842 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with B4GALNT4: view
genes like me logo Genes that share phenotypes with B4GALNT4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALNT4

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for B4GALNT4 Gene

Localization for B4GALNT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALNT4 Gene

Golgi apparatus, Golgi stack 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 B4GALNT4 gene
Compartment Confidence
golgi apparatus 4
cytoskeleton 2
nucleus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Microtubules (2)
  • Mitotic spindle (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for B4GALNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with B4GALNT4: view

Pathways & Interactions for B4GALNT4 Gene

PathCards logo

SuperPathways for B4GALNT4 Gene

genes like me logo Genes that share pathways with B4GALNT4: view

Pathways by source for B4GALNT4 Gene

Gene Ontology (GO) - Biological Process for B4GALNT4 Gene

None

No data available for SIGNOR curated interactions for B4GALNT4 Gene

Drugs & Compounds for B4GALNT4 Gene

(1) Drugs for B4GALNT4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma 0

(3) Additional Compounds for B4GALNT4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylgalactosamine
  • 2-(acetylamino)-2-Deoxy-alpha-D-galactopyranose
  • alpha-GalNAc
  • alpha-GalpNAc
  • GalNAc-alpha
  • Tn
1811-31-0
UDP-N-acetyl-alpha-D-galactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • URIDINE-diphosphATE-N-acetylgalactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphoric acid (non-preferred name)
  • UDP-N-Acetyl-a-D-galactosamine
  • UDP-N-Acetyl-α-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with B4GALNT4: view

Transcripts for B4GALNT4 Gene

mRNA/cDNA for B4GALNT4 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALNT4

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1:
SP2:
SP3:

Relevant External Links for B4GALNT4 Gene

GeneLoc Exon Structure for
B4GALNT4

Expression for B4GALNT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for B4GALNT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B4GALNT4 Gene

This gene is overexpressed in Brain - Cerebellum (x4.3) and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for B4GALNT4 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (64.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for B4GALNT4 Gene



Protein tissue co-expression partners for B4GALNT4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GALNT4

SOURCE GeneReport for Unigene cluster for B4GALNT4 Gene:

Hs.148074

mRNA Expression by UniProt/SwissProt for B4GALNT4 Gene:

Q76KP1-B4GN4_HUMAN
Tissue specificity: Highly expressed in ovary, adult and fetal brain. Also expressed in fetal kidney and lung.

Evidence on tissue expression from TISSUES for B4GALNT4 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with B4GALNT4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALNT4 Gene

Orthologs for B4GALNT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALNT4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia B4GALNT4 30 31
  • 97.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia B4GALNT4 31
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia B4galnt4 30 17 31
  • 81.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia B4galnt4 30
  • 81.09 (n)
Dog
(Canis familiaris)
Mammalia B4GALNT4 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia B4GALNT4 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves B4GALNT4 30 31
  • 68.79 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia B4GALNT4 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia b4galnt4 30
  • 67.08 (n)
Str.8405 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.2208 30
Zebrafish
(Danio rerio)
Actinopterygii LOC559305 30
  • 66.19 (n)
b4galnt4a 31
  • 50 (a)
OneToMany
B4GALNT4 (2 of 2) 31
  • 48 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG43313 31
  • 12 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mig-22 31
  • 12 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.937 31
  • 15 (a)
OneToMany
Species where no ortholog for B4GALNT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 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)

Evolution for B4GALNT4 Gene

ENSEMBL:
Gene Tree for B4GALNT4 (if available)
TreeFam:
Gene Tree for B4GALNT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B4GALNT4: view image

Paralogs for B4GALNT4 Gene

Paralogs for B4GALNT4 Gene

(1) SIMAP similar genes for B4GALNT4 Gene using alignment to 4 proteins:

  • B4GN4_HUMAN
  • A2VDJ5_HUMAN
  • H0YCU7_HUMAN
  • H0YDW6_HUMAN
genes like me logo Genes that share paralogs with B4GALNT4: view

Variants for B4GALNT4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALNT4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
713985 Benign: not provided 373,061(+) C/T SYNONYMOUS_VARIANT
716167 Benign: not provided 375,780(+) G/A INTRON_VARIANT
779129 Benign: not provided 376,343(+) A/G MISSENSE_VARIANT
rs11822725 - p.Gly88Val
rs34063493 - p.Ala67Val

Additional dbSNP identifiers (rs#s) for B4GALNT4 Gene

Structural Variations from Database of Genomic Variants (DGV) for B4GALNT4 Gene

Variant ID Type Subtype PubMed ID
dgv1012n100 CNV gain 25217958
dgv1505n54 CNV gain 21841781
dgv1507n54 CNV loss 21841781
dgv182e199 CNV deletion 23128226
esv1612736 CNV deletion 17803354
esv28392 CNV gain+loss 19812545
esv3445362 CNV duplication 20981092
esv990569 CNV deletion 20482838
nsv1069534 CNV deletion 25765185
nsv1069535 CNV deletion 25765185
nsv1118197 CNV deletion 24896259
nsv1126279 CNV deletion 24896259
nsv1159790 CNV deletion 26073780
nsv467633 CNV loss 19166990
nsv469923 CNV loss 18288195
nsv527327 CNV loss 19592680
nsv552770 CNV gain 21841781
nsv552776 CNV loss 21841781
nsv825676 CNV gain 20364138
nsv951268 CNV deletion 24416366

Variation tolerance for B4GALNT4 Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.24; 81.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B4GALNT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B4GALNT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALNT4 Gene

Disorders for B4GALNT4 Gene

No disorders were found for B4GALNT4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B4GALNT4 Gene

Publications for B4GALNT4 Gene

  1. Molecular cloning and characterization of beta1,4-N-acetylgalactosaminyltransferases IV synthesizing N,N'-diacetyllactosediamine. (PMID: 15044014) Gotoh M … Narimatsu H (FEBS letters 2004) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  5. Enhanced expression of the β4-N-acetylgalactosaminyltransferase 4 gene impairs tumor growth of human breast cancer cells. (PMID: 25858323) Hirano K … Furukawa K (Biochemical and biophysical research communications 2015) 3

Products for B4GALNT4 Gene

Sources for B4GALNT4 Gene