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B4GALT7 Gene

protein-coding   GIFtS: 53
GCID: GC05P177027

Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide...

  See B4GALT7-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide 71 2     Beta-1,4-Galactosyltransferase 72
XGALT12 3 5     Beta-1,4-Galactosyltransferase VII2
Galactosyltransferase I1 2     beta4Gal-T72
Beta-1,4-GalTase 72 3     beta4GalT-VII2
UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 72 3     Proteoglycan UDP-Galactose:Beta-Xylose Beta1,4-Galactosyltransferase I2
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 72 3     Beta4Gal-T73
EDSP12 5     EC 2.4.1.-3
XGPT12 5     b4Gal-T73

External Ids:    HGNC: 9301   Entrez Gene: 112852   Ensembl: ENSG000000278477   OMIM: 6043275   UniProtKB: Q9UBV73   

Export aliases for B4GALT7 gene to outside databases

Previous GC identifers: GC05P177400 GC05P177868 GC05P177095 GC05P177140 GC05P176959 GC05P171950


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 island's larsen syndrome. GO annotations related to this gene include galactosyltransferase activity and xylosylprotein 4-beta-galactosyltransferase activity. An important paralog of this gene is B4GALT5.

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
Function: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for
small proteoglycans in skin fibroblasts

Gene Wiki entry for B4GALT7 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B4GALT7 gene promoter:
         Max1   ER-alpha   AML1a   E47   CP2   ARP-1   NF-kappaB1   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB4GALT7 promoter sequence
   Search Chromatin IP Primers for B4GALT7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B4GALT7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.2-q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.1-q35.3

B4GALT7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALT7 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P177027:  view genomic region     (about GC identifiers)

Start:
177,027,101 bp from pter      End:
177,037,348 bp from pter
Size:
10,248 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7 (See protein sequence)
Recommended Name: Beta-1,4-galactosyltransferase 7  
Size: 327 amino acids; 37406 Da
Cofactor: Manganese
2 PDB 3D structures from and Proteopedia for B4GALT7:
4IRP (3D)        4IRQ (3D)    
Secondary accessions: B3KN39 Q9UHN2

Explore the universe of human proteins at neXtProt for B4GALT7: NX_Q9UBV7

Explore proteomics data for B4GALT7 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn154

  • See B4GALT7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009186.1  
    ENSEMBL proteins: 
     ENSP00000029410   ENSP00000425591   ENSP00000423438   ENSP00000420886   ENSP00000423868  
    Reactome Protein details: Q9UBV7

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    B4GT: Beta 4-glycosyltransferases

    3 InterPro protein domains:
     IPR003859 Galactosyl_T
     IPR027995 Glyco_transf_7N
     IPR027791 Galactosyl_T_C

    Graphical View of Domain Structure for InterPro Entry Q9UBV7

    ProtoNet protein and cluster: Q9UBV7

    1 Blocks protein domain: IPB003859 Metazoa galactosyltransferase

    UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
    Similarity: Belongs to the glycosyltransferase 7 family


    Find genes that share domains with B4GALT7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B4GT7_HUMAN, Q9UBV7
    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]

         Genatlas biochemistry entry for B4GALT7:
    UDP-galactose

         Enzyme Number (IUBMB): EC 2.4.1.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003831beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IDA--
    GO:0008378galactosyltransferase activity IMP16583246
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0030145manganese ion binding IDA--
    GO:0046525xylosylprotein 4-beta-galactosyltransferase activity IDA10438455
         
    Find genes that share ontologies with B4GALT7           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for B4GALT7

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    B4GT7_HUMAN, Q9UBV7: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis
    cisternae of Golgi stack
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol1
    extracellular1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus IDA10506123
    GO:0016021integral component of membrane IDA10438455
    GO:0032580Golgi cisterna membrane IEA--

    Find genes that share ontologies with B4GALT7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for B4GALT7 About   (see all 8)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS II - Hunter syndrome0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    Glycosaminoglycan metabolism0.45
    MPS IV - Morquio syndrome A0.45
    MPS IV - Morquio syndrome B0.45
    Mucopolysaccharidoses0.45
    MPS VII - Sly syndrome0.45
    2Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate0.00
    A tetrasaccharide linker sequence is required for GAG synthesis0.51
    3heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    4Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    5dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis
    glycoaminoglycan-protein linkage region biosynthesis0.00


    Find genes that share SuperPaths with B4GALT7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for B4GALT7
        Sperm Motility

    4 BioSystems Pathways for B4GALT7
        glycoaminoglycan-protein linkage region biosynthesis
    heparan sulfate biosynthesis
    chondroitin sulfate biosynthesis
    dermatan sulfate biosynthesis


    1 Reactome Pathway for B4GALT7
        A tetrasaccharide linker sequence is required for GAG synthesis


    3 Kegg Pathways  (Kegg details for B4GALT7):
        Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    Metabolic pathways

    UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B4GALT7
    Interactions:

        Search GeneGlobe Interaction Network for B4GALT7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for B4GALT7 (ENSP000000294104) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GALT6ENSP000003684964STRING: ENSP00000368496
    BGNENSP000003273364STRING: ENSP00000327336
    DCNENSP000000527544STRING: ENSP00000052754
    GPC2ENSP000002923774STRING: ENSP00000292377
    GPC5ENSP000003662674STRING: ENSP00000366267
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process IDA10438455
    GO:0006029proteoglycan metabolic process IMP16583246
    GO:0006464cellular protein modification process TAS10473568
    GO:0006487protein N-linked glycosylation IDA--

    Find genes that share ontologies with B4GALT7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for B4GALT7 (B4GT7)

    1 HMDB Compound for B4GALT7    About this table
    CompoundSynonyms CAS #PubMed Ids
    Manganesemanganese 7439-96-5--

    2 Novoseek inferred chemical compound relationships for B4GALT7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycosaminoglycan 72.2 5 15859521 (2), 12215432 (1), 18158310 (1)
    xylose 57.6 2 12215432 (1)



    Find genes that share compounds with B4GALT7           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for B4GALT7 gene: 
    NM_007255.2  

    Unigene Cluster for B4GALT7:

    Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
    Hs.455109  [show with all ESTs]
    Unigene Representative Sequence: AK022566
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000029410(uc003mhy.3 uc003mhz.3) ENST00000502420 ENST00000505433
    ENST00000510761 ENST00000505468 ENST00000507061 ENST00000505145 ENST00000515353

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    Additional mRNA sequence: 

    AB028600.1 AF142675.1 AJ005382.1 AK022566.1 AK023506.1 AK095882.1 AK123092.1 AY358578.1 
    BC007317.2 BC062983.1 BC072403.1 

    10 DOTS entries:

    DT.213863  DT.97797729  DT.100816555  DT.100816558  DT.100816559  DT.409072  DT.75175811  DT.120800844 
    DT.120800846  DT.65285309 

    Selected AceView cDNA sequences (see all 166):

    CR617329 AW955905 AU156288 BQ186178 CD364930 BF343877 CA425712 BM705211 
    CB266222 D80683 AI676088 AA358664 AI249349 AI031683 AW194259 BU553027 
    BU623889 BU849735 BM719653 BM557587 BC007317 BU181467 CA487485 BX385075 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT7 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for B4GALT7

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    B4GALT7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGGAATGTG
    B4GALT7 Expression
    About this image

    B4GALT7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B4GALT7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.455109

    UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
    Tissue specificity: High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain,
    skeletal muscle and lung

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for B4GALT7 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galt71 , 5 xylosylprotein beta1,4-galactosyltransferase, polypeptide more1, 5 88.55(n)1
    92.33(a)1
      13 (30.06 cM)5
    2182711  NM_146045.11  NP_666157.11 
     555998965 
    chicken
    (Gallus gallus)
    Aves B4GALT71 xylosylprotein beta 1,4-galactosyltransferase, polypeptide more 77.67(n)
    77.99(a)
      416359  NM_001039911.1  NP_001035000.1 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALT76
    xylosylprotein beta 1,4-galactosyltransferase, pol...
    76(a)
    1 ↔ 1
    2(146109433-146116524)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW638002.12   -- 75.75(n)    AW638002.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.177022 Transcribed sequence with moderate similarity to protein more 74.38(n)    BQ078482.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta &bgr;4GalT73
    beta4GalT71
    proteoglycan biosynthesis
    xylosylprotein
    4-beta-galactosyltransferase3
    beta-4-galactosyltransferase 71
    52(a)3
    60.28(n)1
    57.02(a)1
      96B163
    429911  NM_143062.31  NP_651319.21 
    worm
    (Caenorhabditis elegans)
    Secernentea sqv-31 , 3 Galactosyltransferase3
    sqv-31
    48(a)3
    50.07(n)1
    49.78(a)1
      III(9850760-9852023)3
    1763821  NM_066763.61  NP_499164.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B4GALT7 gene
    B4GALT52  B4GALT22  B4GALT12  B4GALT42  B4GALT62  B4GALT32  

    Find genes that share paralogs with B4GALT7           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for B4GALT7 (see all 342)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0102934
    Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1)4--see VAR_0102932 A D mis40--------
    VAR_0102944
    Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1)4--see VAR_0102942 L P mis40--------
    rs1219178171,2
    Cpathogenic1177258086(+) CGTGGA/CCTCCC 2 D A mis10--------
    rs1219178181,2
    Cpathogenic1177258146(+) GCTGCC/TCTCCA 2 P L mis10--------
    rs289378691,2
    Cpathogenic1177259635(+) AGAAGC/TGCATC 2 R C mis1 ese30--------
    rs2012820671,2
    C--177025368(+) TAAAT-/AAAATA 1 -- us2k10--------
    rs576682561,2
    C--177025382(+) TAAAATAAAA/
            
    AAGTA
    1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs339353051,2
    C--177025968(+) AACTT-/AAAAGT 1 -- us2k10--------
    rs1814389391,2
    --177248796(+) CAGCCA/GCCAAC 1 -- us2k10--------
    rs1428334791,2
    C--177248902(+) AATTGC/TTTGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for B4GALT7 (177027101 - 177037348 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for B4GALT7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5149CNV Insertion18451855
    nsv883181CNV Loss21882294
    nsv883183CNV Loss21882294
    nsv883182CNV Gain21882294

    Human Gene Mutation Database (HGMD): B4GALT7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing B4GALT7
    DNA2.0 Custom Variant and Variant Library Synthesis for B4GALT7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604327   
    OMIM disorders: 130070  
    UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 3 diseases for B4GALT7:    
    About MalaCards
    ehlers-danlos syndrome, progeroid type, 1    reunion island's larsen syndrome    johanson-blizzard syndrome

    1 disease from the University of Copenhagen DISEASES database for B4GALT7:
    Ehlers-Danlos syndrome

    Find genes that share disorders with B4GALT7           About GenesLikeMe

    1 Novoseek inferred disease relationship for B4GALT7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ehlers-danlos syndrome 89.5 8 18158310 (2), 12417421 (1), 16583246 (1), 19133250 (1) (see all 6)


    Export disorders for B4GALT7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for B4GALT7 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with B4GALT7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PubMed id 10438455)1, 2, 3 Okajima T.... Furukawa K. (J. Biol. Chem. 1999)
    2. Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4- galactosyltransferase gene family. (PubMed id 10473568)1, 2, 3 Almeida R.... Clausen H. (J. Biol. Chem. 1999)
    3. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. (PubMed id 10506123)1, 2, 9 Okajima T.... Urano T. (J. Biol. Chem. 1999)
    4. Crystal structures of beta-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate Binding. (PubMed id 24052259)1, 2 Tsutsui Y.... Qasba P.K. (J. Biol. Chem. 2013)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    8. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (Biochim. Biophys. Acta 1999)
    9. Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. (PubMed id 18158310)1, 9 GAPtte M....Kiesel L. (Hum. Mol. Genet. 2008)
    10. Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). (PubMed id 16583246)1, 9 Seidler D.G....GAPtte M. (J. Mol. Med. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11285 HGNC: 930 AceView: B4GALT7 Ensembl:ENSG00000027847 euGenes: HUgn11285
    ECgene: B4GALT7 Kegg: 11285 H-InvDB: B4GALT7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for B4GALT7 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALT7
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_442

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B4GALT7 gene:
    Search GeneIP for patents involving B4GALT7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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