Human Gene B4GALT3 (uc001fys.2) Description and Page Index
  Description: Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3), transcript variant 3, mRNA.
RefSeq Summary (NM_001199874): 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. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010].
Transcript (Including UTRs)
   Position: hg19 chr1:161,141,100-161,147,758 Size: 6,659 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr1:161,141,606-161,145,850 Size: 4,245 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:161,141,100-161,147,758)mRNA (may differ from genome)Protein (393 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Beta-1,4-galactosyltransferase 3; Short=Beta-1,4-GalTase 3; Short=Beta4Gal-T3; Short=b4Gal-T3; EC=2.4.1.-; AltName: Full=UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3; AltName: Full=UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3; Includes: RecName: Full=N-acetyllactosamine synthase; EC=; AltName: Full=Nal synthase; Includes: RecName: Full=Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase; EC=; Includes: RecName: Full=Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase; EC=2.4.1.-;
FUNCTION: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.
CATALYTIC ACTIVITY: UDP-alpha-D-galactose + N-acetyl-beta-D- glucosaminylglycopeptide = UDP + beta-D-galactosyl-(1->4)-N- acetyl-beta-D-glucosaminylglycopeptide.
CATALYTIC ACTIVITY: UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine.
COFACTOR: Manganese (By similarity).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=63 uM for GlcNAc-B-S-pNP;
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans cisternae of Golgi stack.
TISSUE SPECIFICITY: Found in various tissues. Highest expression in placenta, prostate, testis, ovary, intestine and muscle, and in fetal brain.
SIMILARITY: Belongs to the glycosyltransferase 7 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Beta-1,4-galactosyltransferase 3; URL="";

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.05 RPKM in Pituitary
Total median expression: 849.95 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -263.20656-0.401 Picture PostScript Text
3' UTR -187.90506-0.371 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003859 - Galactosyl_T_2_met

Pfam Domains:
PF02709 - N-terminal domain of galactosyltransferase
PF13733 - N-terminal region of glycosyl transferase group 7

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on O60512
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0003945 N-acetyllactosamine synthase activity
GO:0008378 galactosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0046872 metal ion binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0006682 galactosylceramide biosynthetic process
GO:0018146 keratan sulfate biosynthetic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032580 Golgi cisterna membrane
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  KJ892598 - Synthetic construct Homo sapiens clone ccsbBroadEn_01992 B4GALT3 gene, encodes complete protein.
KJ897896 - Synthetic construct Homo sapiens clone ccsbBroadEn_07290 B4GALT3 gene, encodes complete protein.
LF205455 - JP 2014500723-A/12958: Polycomb-Associated Non-Coding RNAs.
LF205454 - JP 2014500723-A/12957: Polycomb-Associated Non-Coding RNAs.
BC000276 - Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3, mRNA (cDNA clone MGC:2007 IMAGE:3357342), complete cds.
BC006099 - Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3, mRNA (cDNA clone MGC:12774 IMAGE:3677118), complete cds.
AK056851 - Homo sapiens cDNA FLJ32289 fis, clone PROST2000432, highly similar to Beta-1,4-galactosyltransferase 3 (EC 2.4.1.-).
AF038661 - Homo sapiens chromosome 1q21-1q23 beta-1,4-galactosyltransferase mRNA, complete cds.
AF020921 - Homo sapiens beta 1,4-galactosyltransferase homolog mRNA, complete cds.
AK092493 - Homo sapiens cDNA FLJ35174 fis, clone PLACE6013386, highly similar to Beta-1,4-galactosyltransferase 3 (EC 2.4.1.-).
AK023311 - Homo sapiens cDNA FLJ13249 fis, clone OVARC1000722, highly similar to Homo sapiens chromosome 1q21-1q23 beta-1,4-galactosyltransferase mRNA.
BC009985 - Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3, mRNA (cDNA clone MGC:16669 IMAGE:4124756), complete cds.
JD392349 - Sequence 373373 from Patent EP1572962.
JD425632 - Sequence 406656 from Patent EP1572962.
JD530407 - Sequence 511431 from Patent EP1572962.
JD554941 - Sequence 535965 from Patent EP1572962.
LF320710 - JP 2014500723-A/128213: Polycomb-Associated Non-Coding RNAs.
JD276508 - Sequence 257532 from Patent EP1572962.
JD554378 - Sequence 535402 from Patent EP1572962.
JD228532 - Sequence 209556 from Patent EP1572962.
JD136040 - Sequence 117064 from Patent EP1572962.
JD519320 - Sequence 500344 from Patent EP1572962.
LF320709 - JP 2014500723-A/128212: Polycomb-Associated Non-Coding RNAs.
JD525421 - Sequence 506445 from Patent EP1572962.
AB024435 - Homo sapiens mRNA for beta-1,4-galactosyltransferase III, complete cds.
GQ891315 - Homo sapiens clone HEL-S-38a epididymis secretory sperm binding protein mRNA, complete cds.
Y12509 - Homo sapiens mRNA for UDP-Gal:GlcNAc galactosyltransferase.
DQ892494 - Synthetic construct clone IMAGE:100005124; FLH186825.01X; RZPDo839A1172D UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3) gene, encodes complete protein.
DQ895706 - Synthetic construct Homo sapiens clone IMAGE:100010166; FLH186821.01L; RZPDo839A1162D UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3) gene, encodes complete protein.
CU675245 - Synthetic construct Homo sapiens gateway clone IMAGE:100017168 5' read B4GALT3 mRNA.
CU674124 - Synthetic construct Homo sapiens gateway clone IMAGE:100018206 5' read B4GALT3 mRNA.
AK291455 - Homo sapiens cDNA FLJ78324 complete cds.
LF320707 - JP 2014500723-A/128210: Polycomb-Associated Non-Coding RNAs.
JD365645 - Sequence 346669 from Patent EP1572962.
MA441032 - JP 2018138019-A/12958: Polycomb-Associated Non-Coding RNAs.
MA441031 - JP 2018138019-A/12957: Polycomb-Associated Non-Coding RNAs.
MA556287 - JP 2018138019-A/128213: Polycomb-Associated Non-Coding RNAs.
MA556286 - JP 2018138019-A/128212: Polycomb-Associated Non-Coding RNAs.
MA556284 - JP 2018138019-A/128210: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00510 - N-Glycan biosynthesis
hsa00533 - Glycosaminoglycan biosynthesis - keratan sulfate
hsa00601 - Glycosphingolipid biosynthesis - lacto and neolacto series
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein O60512 (Reactome details) participates in the following event(s):

R-HSA-975919 Addition of galactose by beta 4-galactosyltransferases
R-HSA-2025723 B4GALTs transfer Gal to the N-glycan precursor
R-HSA-2046265 B4GALTs transfer Gal to the keratan chain
R-HSA-2046298 B4GALTs transfer Gal to a branch of keratan
R-HSA-975577 N-Glycan antennae elongation
R-HSA-2022854 Keratan sulfate biosynthesis
R-HSA-975576 N-glycan antennae elongation in the medial/trans-Golgi
R-HSA-1638074 Keratan sulfate/keratin metabolism
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-71387 Metabolism of carbohydrates
R-HSA-597592 Post-translational protein modification
R-HSA-1430728 Metabolism
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B4GT3_HUMAN, D3DVG3, NM_001199874, NP_003770, O60512, O60910, Q9BPZ4, Q9H8T2
UCSC ID: uc001fys.2
RefSeq Accession: NM_001199874
Protein: O60512 (aka B4GT3_HUMAN or B4G3_HUMAN)
CCDS: CCDS1222.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001199874.1
exon count: 8CDS single in 3' UTR: no RNA size: 2367
ORF size: 1182CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2367.50frame shift in genome: no % Coverage: 99.03
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.