Human Gene B4GALT5 (ENST00000371711.4) from GENCODE V44
  Description: Homo sapiens beta-1,4-galactosyltransferase 5 (B4GALT5), mRNA. (from RefSeq NM_004776)
RefSeq Summary (NM_004776): 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 function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000371711.4
Gencode Gene: ENSG00000158470.5
Transcript (Including UTRs)
   Position: hg38 chr20:49,632,945-49,713,878 Size: 80,934 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr20:49,636,312-49,713,690 Size: 77,379 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:49,632,945-49,713,878)mRNA (may differ from genome)Protein (388 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B4GT5_HUMAN
DESCRIPTION: RecName: Full=Beta-1,4-galactosyltransferase 5; Short=Beta-1,4-GalTase 5; Short=Beta4Gal-T5; Short=b4Gal-T5; EC=2.4.1.-; AltName: Full=Beta-1,4-GalT II; AltName: Full=UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5; AltName: Full=UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5;
FUNCTION: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.
COFACTOR: Manganese (By similarity).
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: Ubiquitously expressed.
SIMILARITY: Belongs to the glycosyltransferase 7 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Beta-1,4-galactosyltransferase 5; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_440";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: B4GALT5
Diseases sorted by gene-association score: kidney leiomyosarcoma (4), pharynx cancer (1), vulvitis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 38.39 RPKM in Adrenal Gland
Total median expression: 714.57 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -109.20188-0.581 Picture PostScript Text
3' UTR -1053.703367-0.313 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

ModBase Predicted Comparative 3D Structure on O43286
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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:0016266 O-glycan processing
GO:0018146 keratan sulfate biosynthetic process
GO:0030311 poly-N-acetyllactosamine biosynthetic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032580 Golgi cisterna membrane


-  Descriptions from all associated GenBank mRNAs
  MP067507 - Sequence 11 from Patent WO2018232288.
AF038663 - Homo sapiens beta-1,4-galactosyltransferase mRNA, complete cds.
AB004550 - Homo sapiens mRNA for beta-1,4-galactosyltransferase (beta-1,4-GalT) V, complete cds.
BC104987 - Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5, mRNA (cDNA clone MGC:132647 IMAGE:8143990), complete cds.
BC112265 - Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5, mRNA (cDNA clone MGC:138470 IMAGE:8327733), complete cds.
BC074821 - Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5, mRNA (cDNA clone MGC:104086 IMAGE:30915537), complete cds.
BC074873 - Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5, mRNA (cDNA clone MGC:103852 IMAGE:30915234), complete cds.
HQ258208 - Synthetic construct Homo sapiens clone IMAGE:100072517 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5) gene, encodes complete protein.
KJ892748 - Synthetic construct Homo sapiens clone ccsbBroadEn_02142 B4GALT5 gene, encodes complete protein.
AB527656 - Synthetic construct DNA, clone: pF1KB9394, Homo sapiens B4GALT5 gene for UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5, without stop codon, in Flexi system.
AB871482 - Homo sapiens B4GalT5 mRNA for beta-1,4-galactosyltransferase 5, partial cds.
AK054803 - Homo sapiens cDNA FLJ30241 fis, clone BRACE2002139.
JD446664 - Sequence 427688 from Patent EP1572962.
AF289556 - Homo sapiens clone pp4491 unknown mRNA.
AK056333 - Homo sapiens cDNA FLJ31771 fis, clone NT2RI2007987.
JD563341 - Sequence 544365 from Patent EP1572962.
JD265590 - Sequence 246614 from Patent EP1572962.
JD345187 - Sequence 326211 from Patent EP1572962.
JD512030 - Sequence 493054 from Patent EP1572962.
JD422168 - Sequence 403192 from Patent EP1572962.
JD339006 - Sequence 320030 from Patent EP1572962.
JD403343 - Sequence 384367 from Patent EP1572962.
JD295953 - Sequence 276977 from Patent EP1572962.
JD395699 - Sequence 376723 from Patent EP1572962.
JD392591 - Sequence 373615 from Patent EP1572962.
JD516412 - Sequence 497436 from Patent EP1572962.
JD148913 - Sequence 129937 from Patent EP1572962.
JD390453 - Sequence 371477 from Patent EP1572962.
JD068836 - Sequence 49860 from Patent EP1572962.
JD171296 - Sequence 152320 from Patent EP1572962.
JD061233 - Sequence 42257 from Patent EP1572962.
JD549126 - Sequence 530150 from Patent EP1572962.
JD561508 - Sequence 542532 from Patent EP1572962.
JD263028 - Sequence 244052 from Patent EP1572962.
JD092934 - Sequence 73958 from Patent EP1572962.
JD211506 - Sequence 192530 from Patent EP1572962.
JD278312 - Sequence 259336 from Patent EP1572962.
JD312214 - Sequence 293238 from Patent EP1572962.
JD554473 - Sequence 535497 from Patent EP1572962.
JD163473 - Sequence 144497 from Patent EP1572962.
JD558119 - Sequence 539143 from Patent EP1572962.
JD430804 - Sequence 411828 from Patent EP1572962.
JD157779 - Sequence 138803 from Patent EP1572962.
JD228551 - Sequence 209575 from Patent EP1572962.
JD342284 - Sequence 323308 from Patent EP1572962.
JD221197 - Sequence 202221 from Patent EP1572962.
JD077738 - Sequence 58762 from Patent EP1572962.
JD064055 - Sequence 45079 from Patent EP1572962.
JD441194 - Sequence 422218 from Patent EP1572962.
JD224940 - Sequence 205964 from Patent EP1572962.
JD345428 - Sequence 326452 from Patent EP1572962.
JD552303 - Sequence 533327 from Patent EP1572962.
JD146213 - Sequence 127237 from Patent EP1572962.
JD521086 - Sequence 502110 from Patent EP1572962.
JD212214 - Sequence 193238 from Patent EP1572962.
JD337705 - Sequence 318729 from Patent EP1572962.
JD535456 - Sequence 516480 from Patent EP1572962.
JD317665 - Sequence 298689 from Patent EP1572962.
JD098378 - Sequence 79402 from Patent EP1572962.
JD367632 - Sequence 348656 from Patent EP1572962.
JD513029 - Sequence 494053 from Patent EP1572962.
JD351079 - Sequence 332103 from Patent EP1572962.
JD158277 - Sequence 139301 from Patent EP1572962.
JD161687 - Sequence 142711 from Patent EP1572962.
JD153333 - Sequence 134357 from Patent EP1572962.
JD198498 - Sequence 179522 from Patent EP1572962.
JD512577 - Sequence 493601 from Patent EP1572962.
JD335525 - Sequence 316549 from Patent EP1572962.
JD467384 - Sequence 448408 from Patent EP1572962.
JD262991 - Sequence 244015 from Patent EP1572962.
JD469469 - Sequence 450493 from Patent EP1572962.
JD450760 - Sequence 431784 from Patent EP1572962.
JD073625 - Sequence 54649 from Patent EP1572962.
JD303170 - Sequence 284194 from Patent EP1572962.
JD502298 - Sequence 483322 from Patent EP1572962.
JD214244 - Sequence 195268 from Patent EP1572962.
JD324722 - Sequence 305746 from Patent EP1572962.
JD287680 - Sequence 268704 from Patent EP1572962.
JD115244 - Sequence 96268 from Patent EP1572962.
JD411527 - Sequence 392551 from Patent EP1572962.
JD200682 - Sequence 181706 from Patent EP1572962.
JD368013 - Sequence 349037 from Patent EP1572962.
JD201801 - Sequence 182825 from Patent EP1572962.
JD465723 - Sequence 446747 from Patent EP1572962.
JD148155 - Sequence 129179 from Patent EP1572962.
JD529828 - Sequence 510852 from Patent EP1572962.
JD138851 - Sequence 119875 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00512 - O-Glycan biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein O43286 (Reactome details) participates in the following event(s):

R-HSA-1964501 Addition of galactose to Core 6 glycoprotein
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-913709 O-linked glycosylation of mucins
R-HSA-975577 N-Glycan antennae elongation
R-HSA-2022854 Keratan sulfate biosynthesis
R-HSA-5173105 O-linked glycosylation
R-HSA-975576 N-glycan antennae elongation in the medial/trans-Golgi
R-HSA-1638074 Keratan sulfate/keratin metabolism
R-HSA-597592 Post-translational protein modification
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-392499 Metabolism of proteins
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B4GT5_HUMAN, E1P625, ENST00000371711.1, ENST00000371711.2, ENST00000371711.3, NM_004776, O43286, Q2M394, Q9UJQ8, uc002xuu.1, uc002xuu.2, uc002xuu.3, uc002xuu.4, uc002xuu.5
UCSC ID: ENST00000371711.4
RefSeq Accession: NM_004776
Protein: O43286 (aka B4GT5_HUMAN or B4G5_HUMAN)
CCDS: CCDS13420.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.