Human Gene B4GALT7 (uc003mhy.3)
  Description: Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (B4GALT7), mRNA.
RefSeq Summary (NM_007255): This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member 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 which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009].
Transcript (Including UTRs)
   Position: hg19 chr5:177,027,119-177,037,346 Size: 10,228 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr5:177,027,212-177,036,696 Size: 9,485 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:177,027,119-177,037,346)mRNA (may differ from genome)Protein (327 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B4GT7_HUMAN
DESCRIPTION: RecName: Full=Beta-1,4-galactosyltransferase 7; Short=Beta-1,4-GalTase 7; Short=Beta4Gal-T7; Short=b4Gal-T7; EC=2.4.1.-; AltName: Full=UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7; AltName: Full=UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7; Includes: RecName: Full=Xylosylprotein 4-beta-galactosyltransferase; EC=2.4.1.133; AltName: Full=Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I; AltName: Full=UDP-galactose:beta-xylose beta-1,4-galactosyltransferase; AltName: Full=XGPT; AltName: Full=XGalT-1; AltName: Full=Xylosylprotein beta-1,4-galactosyltransferase;
FUNCTION: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
CATALYTIC ACTIVITY: UDP-alpha-D-galactose + O-beta-D-xylosyl- [protein] = UDP + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein].
COFACTOR: Manganese.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis cisternae of Golgi stack.
TISSUE SPECIFICITY: High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.
DISEASE: Defects in B4GALT7 are the cause of Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]. EDSP is a variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental retardation, short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits.
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 7; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_442";

-  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: B4GALT7
Diseases sorted by gene-association score: ehlers-danlos syndrome with short stature and limb anomalies* (1331), spondylodysplastic ehlers-danlos syndrome* (750), reunion island larsen syndrome* (350), ehlers-danlos syndrome, progeroid type, 2* (296), ehlers-danlos syndrome (29), larsen syndrome (8), sotos syndrome 1 (4)
* = Manually curated disease association

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

+  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: 20.88 RPKM in Pituitary
Total median expression: 530.55 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 -62.9093-0.676 Picture PostScript Text
3' UTR -266.40650-0.410 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 Q9UBV7
FrontTopSide
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 BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0005515 protein binding
GO:0008378 galactosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0030145 manganese ion binding
GO:0046525 xylosylprotein 4-beta-galactosyltransferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006029 proteoglycan metabolic process
GO:0006464 cellular protein modification process
GO:0006486 protein glycosylation
GO:0006487 protein N-linked glycosylation
GO:0030203 glycosaminoglycan metabolic process
GO:0048147 negative regulation of fibroblast proliferation
GO:0097435 supramolecular fiber organization

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
  BC007317 - Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I), mRNA (cDNA clone MGC:1277 IMAGE:3049998), complete cds.
BC072403 - Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I), mRNA (cDNA clone MGC:87980 IMAGE:6094074), complete cds.
AY358578 - Homo sapiens clone DNA56531 B4GALT7 (UNQ748) mRNA, complete cds.
BC062983 - Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I), mRNA (cDNA clone MGC:71300 IMAGE:4577572), complete cds.
AB028600 - Homo sapiens XGalT-1 mRNA for galactosyltransferase I, complete cds.
AK023506 - Homo sapiens cDNA FLJ13444 fis, clone PLACE1002908, highly similar to Beta-1,4-galactosyltransferase 7 (EC 2.4.1.-).
AF142675 - Homo sapiens beta-1,4-galactosyltransferase VII mRNA, complete cds.
DQ893010 - Synthetic construct clone IMAGE:100005640; FLH191646.01X; RZPDo839F0677D xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) (B4GALT7) gene, encodes complete protein.
DQ896256 - Synthetic construct Homo sapiens clone IMAGE:100010716; FLH191642.01L; RZPDo839F0667D xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) (B4GALT7) gene, encodes complete protein.
AB527637 - Synthetic construct DNA, clone: pF1KB5440, Homo sapiens B4GALT7 gene for xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7, without stop codon, in Flexi system.
AJ005382 - Homo sapiens mRNA for b4-galactosyltransferase.
KJ898400 - Synthetic construct Homo sapiens clone ccsbBroadEn_07794 B4GALT7 gene, encodes complete protein.
KR709973 - Synthetic construct Homo sapiens clone CCSBHm_00008592 B4GALT7 (B4GALT7) mRNA, encodes complete protein.
KR709974 - Synthetic construct Homo sapiens clone CCSBHm_00008594 B4GALT7 (B4GALT7) mRNA, encodes complete protein.
AK095882 - Homo sapiens cDNA FLJ38563 fis, clone HCHON2004279, highly similar to Beta-1,4-galactosyltransferase 7 (EC 2.4.1.-).
JD144184 - Sequence 125208 from Patent EP1572962.
AK022566 - Homo sapiens cDNA FLJ12504 fis, clone NT2RM2001698, highly similar to Beta-1,4-galactosyltransferase 7 (EC 2.4.1.-).
AK123092 - Homo sapiens cDNA FLJ41097 fis, clone BLADE2000492, weakly similar to Homo sapiens XGalT-1 mRNA for galactosyltransferase I.
JD363890 - Sequence 344914 from Patent EP1572962.
JD543796 - Sequence 524820 from Patent EP1572962.
JD071247 - Sequence 52271 from Patent EP1572962.
JD310659 - Sequence 291683 from Patent EP1572962.
JD537190 - Sequence 518214 from Patent EP1572962.
JD287445 - Sequence 268469 from Patent EP1572962.
JD230345 - Sequence 211369 from Patent EP1572962.
JD243689 - Sequence 224713 from Patent EP1572962.
JD327869 - Sequence 308893 from Patent EP1572962.
JD077283 - Sequence 58307 from Patent EP1572962.
JD456099 - Sequence 437123 from Patent EP1572962.
JD225705 - Sequence 206729 from Patent EP1572962.
JD497109 - Sequence 478133 from Patent EP1572962.
JD488908 - Sequence 469932 from Patent EP1572962.
JD394581 - Sequence 375605 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00532 - Glycosaminoglycan biosynthesis - chondroitin sulfate
hsa00534 - Glycosaminoglycan biosynthesis - heparan sulfate
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6557 - glycoaminoglycan-protein linkage region biosynthesis
PWY-6564 - heparan sulfate biosynthesis
PWY-6569 - chondroitin sulfate biosynthesis
PWY-6571 - dermatan sulfate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9UBV7 (Reactome details) participates in the following event(s):

R-HSA-1889981 B4GALT7 transfers Gal group to xylosyl-unit of the tetrasaccharide linker
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism
R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B3KN39, B4GT7_HUMAN, NM_007255, NP_009186, Q9UBV7, Q9UHN2, UNQ748/PRO1478, XGALT1
UCSC ID: uc003mhy.3
RefSeq Accession: NM_007255
Protein: Q9UBV7 (aka B4GT7_HUMAN or B4G7_HUMAN)
CCDS: CCDS4429.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_007255.2
exon count: 6CDS single in 3' UTR: no RNA size: 1747
ORF size: 984CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2156.50frame shift in genome: no % Coverage: 98.86
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
Click here for a detailed description of the fields of the table above.

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