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Aliases for B4GALT4 Gene

Aliases for B4GALT4 Gene

  • Beta-1,4-Galactosyltransferase 4 2 3 3 5
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 4 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 4 2 3
  • UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 4 3 4
  • Beta-1,4-GalTase 4 3 4
  • Beta4Gal-T4 3 4
  • B4Gal-T4 3 4
  • Beta-N-Acetylglucosaminyl-Glycolipid Beta-1,4-Galactosyltransferase 4 3
  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase 4 3
  • EC 2.4.1.- 4

External Ids for B4GALT4 Gene

Previous GeneCards Identifiers for B4GALT4 Gene

  • GC03M115619
  • GC03M118559
  • GC03M120211
  • GC03M120251
  • GC03M120413
  • GC03M118930
  • GC03M116306

Summaries for B4GALT4 Gene

Entrez Gene Summary for B4GALT4 Gene

  • This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for B4GALT4 Gene

B4GALT4 (Beta-1,4-Galactosyltransferase 4) is a Protein Coding gene. Among its related pathways are N-glycan antennae elongation in the medial/trans-Golgi and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and N-acetyllactosamine synthase activity. An important paralog of this gene is B4GALT3.

UniProtKB/Swiss-Prot for B4GALT4 Gene

  • Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.

Gene Wiki entry for B4GALT4 Gene

Additional gene information for B4GALT4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALT4 Gene

Genomics for B4GALT4 Gene

GeneHancer (GH) Regulatory Elements for B4GALT4 Gene

Promoters and enhancers for B4GALT4 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
GH03J119236 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 661.9 +2.0 1955 5.2 HDGF FOXA2 ARID4B SIN3A YY1 POLR2B ZNF143 SP3 SP5 MXD4 B4GALT4 ARHGAP31 GSK3B B4GALT4-AS1 GC03M119181
GH03J119468 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.1 -228.0 -228022 2.2 HDGF FOXA2 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 POGLUT1 TMEM39A RPS26P21 B4GALT4 CD80 FSTL1 TIMMDC1 ENSG00000272662
GH03J119348 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8.2 -110.4 -110424 6.1 ATF1 ZSCAN4 BATF RAD21 YY1 ETS1 ETV6 ATF7 BCLAF1 IKZF2 ARHGAP31 ADPRH ARHGAP31-AS1 CD80 B4GALT4 IGSF11 RPL10P7 COX17 GC03M119342 RNU6-1127P
GH03J119210 Enhancer 0.8 ENCODE 12.8 +29.7 29727 2.4 HDAC1 MEIS2 PKNOX1 TAL1 SIN3A TCF12 NCOR1 CBFA2T2 FOSL2 MAFK IGSF11 B4GALT4 UPK1B B4GALT4-AS1 GC03M119181
GH03J119321 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 4.6 -81.9 -81875 2.7 HDGF ARID4B SIN3A ZNF2 IRF4 POLR2B ZNF207 ZNF143 FOS SP3 ARHGAP31-AS1 ARHGAP31 ADPRH B4GALT4 COX17 CD80 RNU6-1127P GC03M119342
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B4GALT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B4GALT4 gene promoter:
  • Arnt
  • Nkx2-5
  • GATA-1
  • GATA-2
  • GATA-3

Genomic Locations for B4GALT4 Gene

Genomic Locations for B4GALT4 Gene
chr3:119,211,732-119,241,103
(GRCh38/hg38)
Size:
29,372 bases
Orientation:
Minus strand
chr3:118,930,579-118,959,950
(GRCh37/hg19)
Size:
29,372 bases
Orientation:
Minus strand

Genomic View for B4GALT4 Gene

Genes around B4GALT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GALT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALT4 Gene

Proteins for B4GALT4 Gene

  • Protein details for B4GALT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60513-B4GT4_HUMAN
    Recommended name:
    Beta-1,4-galactosyltransferase 4
    Protein Accession:
    O60513
    Secondary Accessions:
    • Q68D68
    • Q9BSW3
    • Q9C078

    Protein attributes for B4GALT4 Gene

    Size:
    344 amino acids
    Molecular mass:
    40041 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for B4GALT4 Gene

Post-translational modifications for B4GALT4 Gene

  • Glycosylation at posLast=335335 and posLast=220220
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for B4GALT4 Gene

Domains & Families for B4GALT4 Gene

Gene Families for B4GALT4 Gene

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

Graphical View of Domain Structure for InterPro Entry

O60513

UniProtKB/Swiss-Prot:

B4GT4_HUMAN :
  • Belongs to the glycosyltransferase 7 family.
Family:
  • Belongs to the glycosyltransferase 7 family.
genes like me logo Genes that share domains with B4GALT4: view

Function for B4GALT4 Gene

Molecular function for B4GALT4 Gene

UniProtKB/Swiss-Prot Function:
Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = UDP + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=238 uM for GlcNAc-B-S-pNP {ECO:0000269 PubMed:11588157};
GENATLAS Biochemistry:
UDP galactose

Enzyme Numbers (IUBMB) for B4GALT4 Gene

Phenotypes From GWAS Catalog for B4GALT4 Gene

Gene Ontology (GO) - Molecular Function for B4GALT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity TAS --
GO:0003945 N-acetyllactosamine synthase activity IEA --
GO:0008378 galactosyltransferase activity TAS 9792633
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B4GALT4: view
genes like me logo Genes that share phenotypes with B4GALT4: view

Animal Model Products

miRNA for B4GALT4 Gene

miRTarBase miRNAs that target B4GALT4

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for B4GALT4 Gene

Localization for B4GALT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALT4 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans cisternae of Golgi stack.

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 B4GALT4 gene
Compartment Confidence
golgi apparatus 5
extracellular 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for B4GALT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with B4GALT4: view

Pathways & Interactions for B4GALT4 Gene

genes like me logo Genes that share pathways with B4GALT4: view

UniProtKB/Swiss-Prot O60513-B4GT4_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B4GALT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0006643 membrane lipid metabolic process TAS 9792633
GO:0018146 keratan sulfate biosynthetic process TAS --
genes like me logo Genes that share ontologies with B4GALT4: view

No data available for SIGNOR curated interactions for B4GALT4 Gene

Drugs & Compounds for B4GALT4 Gene

(4) Drugs for B4GALT4 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved, Investigational Nutra Target 0
Manganese Approved Nutra 37
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0

(1) Additional Compounds for B4GALT4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
n-acetyllactosamine
  • beta-D-Galactosyl-1,4-N-acetyl-D-glucosamine
  • Galb1-4glcnacb
  • Galbeta1-4glcnacbeta
  • LacNAc
  • b-D-Galactosyl-1,4-N-acetyl-D-glucosamine
32181-59-2
genes like me logo Genes that share compounds with B4GALT4: view

Transcripts for B4GALT4 Gene

Unigene Clusters for B4GALT4 Gene

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h ^ 11a · 11b · 11c ^
SP1: - - - - - -
SP2: - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - -
SP7: - -
SP8: -
SP9: - -
SP10:
SP11: - - - - - - - - - -
SP12: - - - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - - - - - - - -
SP15: - - - - - - -
SP16: - - - -
SP17: - - - - - - - - - - - -

ExUns: 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for B4GALT4 Gene

GeneLoc Exon Structure for
B4GALT4
ECgene alternative splicing isoforms for
B4GALT4

Expression for B4GALT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B4GALT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B4GALT4 Gene

This gene is overexpressed in Islet of Langerhans (31.4), Placenta (17.4), and Platelet (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B4GALT4 Gene



Protein tissue co-expression partners for B4GALT4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of B4GALT4 Gene:

B4GALT4

SOURCE GeneReport for Unigene cluster for B4GALT4 Gene:

Hs.13225

mRNA Expression by UniProt/SwissProt for B4GALT4 Gene:

O60513-B4GT4_HUMAN
Tissue specificity: High expression in heart, placenta, kidney and pancreas; lower in brain, colon, lung, muscle, ovary, testis and uterus.

Evidence on tissue expression from TISSUES for B4GALT4 Gene

  • Intestine(4.3)
  • Nervous system(4.3)
  • Muscle(4.2)
  • Kidney(3.1)
genes like me logo Genes that share expression patterns with B4GALT4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALT4 Gene

Orthologs for B4GALT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALT4 34 33
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALT4 34 33
  • 87.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia B4GALT4 34 33
  • 86.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia B4galt4 16 34 33
  • 83.43 (n)
rat
(Rattus norvegicus)
Mammalia B4galt4 33
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia B4GALT4 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves B4GALT4 34 33
  • 70.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B4GALT4 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488464 33
  • 61.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15219 33
zebrafish
(Danio rerio)
Actinopterygii b4galt4 34 33
  • 60.65 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH13356 35
  • 42 (a)
CG14517 35
  • 39 (a)
beta4GalNAcTB 34
  • 32 (a)
ManyToMany
beta4GalNAcTA 34
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y73E7A.7 35
  • 44 (a)
W02B12.11 35
  • 36 (a)
bre-4 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.786 34
  • 31 (a)
OneToOne
Species where no ortholog for B4GALT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for B4GALT4 Gene

ENSEMBL:
Gene Tree for B4GALT4 (if available)
TreeFam:
Gene Tree for B4GALT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B4GALT4: view image

Paralogs for B4GALT4 Gene

Paralogs for B4GALT4 Gene

(5) SIMAP similar genes for B4GALT4 Gene using alignment to 11 proteins:

  • B4GT4_HUMAN
  • B2RAZ5_HUMAN
  • C9J3R8_HUMAN
  • C9J4S5_HUMAN
  • C9J5S0_HUMAN
  • C9J644_HUMAN
  • C9JA31_HUMAN
  • C9JE00_HUMAN
  • C9JY35_HUMAN
  • C9JY38_HUMAN
  • E7ETS9_HUMAN
genes like me logo Genes that share paralogs with B4GALT4: view

Variants for B4GALT4 Gene

Sequence variations from dbSNP and Humsavar for B4GALT4 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000132640 -- 119,240,643(-) T/C 5_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1000268480 -- 119,225,674(-) C/T intron_variant
rs1000336401 -- 119,232,093(-) G/T intron_variant
rs1000436768 -- 119,238,841(-) A/G intron_variant
rs1000731267 -- 119,227,752(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for B4GALT4 Gene

Variant ID Type Subtype PubMed ID
esv25249 CNV loss 19812545
esv3386832 CNV duplication 20981092
esv3597553 CNV loss 21293372
esv3597554 CNV loss 21293372
nsv591362 CNV loss 21841781

Variation tolerance for B4GALT4 Gene

Residual Variation Intolerance Score: 44.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.78; 79.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B4GALT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B4GALT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT4 Gene

Disorders for B4GALT4 Gene

Additional Disease Information for B4GALT4

No disorders were found for B4GALT4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B4GALT4 Gene

Publications for B4GALT4 Gene

  1. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PMID: 9597550) Lo NW … Shaper NL (Glycobiology 1998) 2 3 4 58
  2. Cloning of a novel member of the UDP-galactose:beta-N-acetylglucosamine beta1,4-galactosyltransferase family, beta4Gal-T4, involved in glycosphingolipid biosynthesis. (PMID: 9792633) Schwientek T … Clausen H (The Journal of biological chemistry 1998) 2 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  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 58
  5. Galactosylation of N-linked oligosaccharides by human beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells. (PMID: 11588157) Guo S … Furukawa K (Glycobiology 2001) 3 4 58

Products for B4GALT4 Gene

Sources for B4GALT4 Gene

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