Free for academic non-profit institutions. Other users need a Commercial license

Aliases for B4GALT7 Gene

Aliases for B4GALT7 Gene

  • Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide 7 2 3
  • XGALT1 3 4 6
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 7 3 4
  • UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 7 3 4
  • Galactosyltransferase I 2 3
  • Beta-1,4-GalTase 7 3 4
  • Beta4Gal-T7 3 4
  • EDSP1 3 6
  • XGPT1 3 6
  • Proteoglycan UDP-Galactose:Beta-Xylose Beta1,4-Galactosyltransferase I 3
  • Beta-1,4-Galactosyltransferase VII 3
  • Beta-1,4-Galactosyltransferase 7 3
  • Beta4GalT-VII 3
  • EC 2.4.1.- 4
  • B4Gal-T7 4

External Ids for B4GALT7 Gene

Summaries for B4GALT7 Gene

Entrez Gene Summary for B4GALT7 Gene

  • 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]

GeneCards Summary for B4GALT7 Gene

B4GALT7 (Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide 7) is a Protein Coding gene. Diseases associated with B4GALT7 include ehlers-danlos syndrome, progeroid type, 1 and reunion islands larsen syndrome. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include galactosyltransferase activity and xylosylprotein 4-beta-galactosyltransferase activity. An important paralog of this gene is B4GALT2.

UniProtKB/Swiss-Prot for B4GALT7 Gene

  • Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.

Gene Wiki entry for B4GALT7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALT7 Gene

Genomics for B4GALT7 Gene

Genomic Location for B4GALT7 Gene

Start:
177,600,100 bp from pter
End:
177,610,347 bp from pter
Size:
10,248 bases
Orientation:
Plus strand

Genomic View for B4GALT7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B4GALT7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALT7 Gene

Regulatory Elements for B4GALT7 Gene

Proteins for B4GALT7 Gene

  • Protein details for B4GALT7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBV7-B4GT7_HUMAN
    Recommended name:
    Beta-1,4-galactosyltransferase 7
    Protein Accession:
    Q9UBV7
    Secondary Accessions:
    • B3KN39
    • Q9UHN2

    Protein attributes for B4GALT7 Gene

    Size:
    327 amino acids
    Molecular mass:
    37406 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for B4GALT7 Gene

neXtProt entry for B4GALT7 Gene

Proteomics data for B4GALT7 Gene at MOPED

Post-translational modifications for B4GALT7 Gene

Other Protein References for B4GALT7 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for B4GALT7 Gene

Domains for B4GALT7 Gene

Gene Families for B4GALT7 Gene

HGNC:
  • B4GT :Beta 4-glycosyltransferases

UniProtKB/Swiss-Prot:

B4GT7_HUMAN
Family:
  • Belongs to the glycosyltransferase 7 family.:
    • Q9UBV7
genes like me logo Genes that share domains with B4GALT7: view

Function for B4GALT7 Gene

Molecular function for B4GALT7 Gene

GENATLAS Biochemistry: UDP-galactose
UniProtKB/Swiss-Prot CatalyticActivity: UDP-alpha-D-galactose + O-beta-D-xylosyl-[protein] = UDP + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein].
UniProtKB/Swiss-Prot Function: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.

Enzyme Numbers (IUBMB) for B4GALT7 Gene

Gene Ontology (GO) - Molecular Function for B4GALT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IDA 24052259
GO:0005515 protein binding IPI 25416956
GO:0008378 galactosyltransferase activity IMP 16583246
GO:0016757 transferase activity, transferring glycosyl groups --
GO:0030145 manganese ion binding IDA 24052259
genes like me logo Genes that share ontologies with B4GALT7: view

miRNA for B4GALT7 Gene

miRTarBase miRNAs that target B4GALT7

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for B4GALT7 Gene

Localization for B4GALT7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALT7 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B4GALT7 Gene COMPARTMENTS Subcellular localization image for B4GALT7 gene
Compartment Confidence
golgi apparatus 5
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for B4GALT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA 10506123
GO:0016021 integral component of membrane IDA 10438455
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with B4GALT7: view

Pathways for B4GALT7 Gene

genes like me logo Genes that share pathways with B4GALT7: view

UniProtKB/Swiss-Prot Q9UBV7-B4GT7_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for B4GALT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006024 glycosaminoglycan biosynthetic process IDA 10438455
GO:0006029 proteoglycan metabolic process IMP 16583246
GO:0006464 cellular protein modification process TAS 10473568
GO:0006487 protein N-linked glycosylation IDA 24052259
genes like me logo Genes that share ontologies with B4GALT7: view

Compounds for B4GALT7 Gene

(1) HMDB Compounds for B4GALT7 Gene

Compound Synonyms Cas Number PubMed IDs
Manganese
  • manganese
7439-96-5

(2) Novoseek inferred chemical compound relationships for B4GALT7 Gene

Compound -log(P) Hits PubMed IDs
glycosaminoglycan 72.2 4
xylose 57.6 1
genes like me logo Genes that share compounds with B4GALT7: view

Transcripts for B4GALT7 Gene

Unigene Clusters for B4GALT7 Gene

Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT7 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6: -
SP7:

Relevant External Links for B4GALT7 Gene

GeneLoc Exon Structure for
B4GALT7
ECgene alternative splicing isoforms for
B4GALT7

Expression for B4GALT7 Gene

mRNA expression in normal human tissues for B4GALT7 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for B4GALT7 Gene

SOURCE GeneReport for Unigene cluster for B4GALT7 Gene Hs.455109

mRNA Expression by UniProt/SwissProt for B4GALT7 Gene

Q9UBV7-B4GT7_HUMAN
Tissue specificity: High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung
genes like me logo Genes that share expressions with B4GALT7: view

Orthologs for B4GALT7 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALT7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALT7 36
  • 99.29 (n)
  • 100 (a)
B4GALT7 37
  • 80 (a)
OneToOne
cow
(Bos Taurus)
Mammalia B4GALT7 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALT7 36
  • 90.86 (n)
  • 93.55 (a)
B4GALT7 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B4galt7 36
  • 88.55 (n)
  • 92.33 (a)
B4galt7 16
B4galt7 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B4GALT7 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT7 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B4galt7 36
  • 88.55 (n)
  • 92.94 (a)
chicken
(Gallus gallus)
Aves B4GAL-T7 37
  • 86 (a)
OneToOne
B4GALT7 36
  • 77.67 (n)
  • 77.99 (a)
lizard
(Anolis carolinensis)
Reptilia B4GALT7 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt7 36
  • 65.73 (n)
  • 73.6 (a)
zebrafish
(Danio rerio)
Actinopterygii b4galt7 36
  • 65.3 (n)
  • 68.04 (a)
b4galt7 37
  • 67 (a)
OneToOne
Dr.17702 36
fruit fly
(Drosophila melanogaster)
Insecta beta4GalT7 36
  • 60.28 (n)
  • 57.02 (a)
beta4GalT7 37
  • 46 (a)
OneToMany
bgr4GalT7 38
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea sqv-3 36
  • 50.07 (n)
  • 49.78 (a)
sqv-3 37
  • 43 (a)
OneToMany
sqv-3 38
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 44 (a)
OneToOne
Species with no ortholog for B4GALT7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 B4GALT7 Gene

ENSEMBL:
Gene Tree for B4GALT7 (if available)
TreeFam:
Gene Tree for B4GALT7 (if available)

Paralogs for B4GALT7 Gene

Paralogs for B4GALT7 Gene

genes like me logo Genes that share paralogs with B4GALT7: view

Variants for B4GALT7 Gene

Sequence variations from dbSNP and Humsavar for B4GALT7 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs729459 -- 177,608,963(+) CTGCA(C/T)GACCC synonymous-codon, reference
rs729460 -- 177,609,230(-) CCTGC(A/G)TGGAC intron-variant
rs747861 -- 177,610,396(+) GGGGA(C/G)GGGTG downstream-variant-500B
rs755873 -- 177,609,034(+) CCTCA(C/T)TGGGG intron-variant
rs901379 -- 177,603,572(-) TGTCA(A/G)TGGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B4GALT7 Gene

Variant ID Type Subtype PubMed ID
nsv883181 CNV Loss 21882294
nsv883182 CNV Gain 21882294
nsv5149 CNV Insertion 18451855
nsv883183 CNV Loss 21882294

Relevant External Links for B4GALT7 Gene

HapMap Linkage Disequilibrium report
B4GALT7
Human Gene Mutation Database (HGMD)
B4GALT7

Disorders for B4GALT7 Gene

(1) OMIM Diseases for B4GALT7 Gene (604327)

UniProtKB/Swiss-Prot

B4GT7_HUMAN
  • Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) [MIM:130070]: 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. {ECO:0000269 PubMed:10506123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for B4GALT7 Gene

(1) Novoseek inferred disease relationships for B4GALT7 Gene

Disease -log(P) Hits PubMed IDs
ehlers-danlos syndrome 89.5 7
genes like me logo Genes that share disorders with B4GALT7: view

Publications for B4GALT7 Gene

  1. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. (PMID: 10506123) Okajima T. … Urano T. (J. Biol. Chem. 1999) 3 4 23
  2. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. (PMID: 15211654) Faiyaz-Ul-Haque M. … Teebi A.S. (Am. J. Med. Genet. A 2004) 2 3 23
  3. Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 10438455) Okajima T. … Furukawa K. (J. Biol. Chem. 1999) 2 3 4
  4. Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4- galactosyltransferase gene family. (PMID: 10473568) Almeida R. … Clausen H. (J. Biol. Chem. 1999) 2 3 4
  5. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PMID: 10580128) Amado M. … Clausen H. (Biochim. Biophys. Acta 1999) 3 4

Products for B4GALT7 Gene

Sources for B4GALT7 Gene

Back to Top

Content