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FLASH GENE
Symbol B4GALT7 contributors: mct - updated : 04-03-2011
HGNC name xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
HGNC id 930
Corresponding disease
EDSP Ehlers Danlos syndrome, progeroid form
Location 5q35.3      Physical location : 177.027.118 - 177.037.344
Synonym name
  • UDP-galactose : O-beta-D-xylosylprotein 4-beta-D-galactosyltransferase
  • beta-1,4-galactosyltransferase 7
  • Synonym symbol(s) SQV3, XGALT1, beta4Gal-T7, XGPT1
    EC.number 2.4.1.133
    DNA
    TYPE functioning gene
    STRUCTURE 10.23 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    JAZ 5q35.3 double-stranded RNA-binding zinc finger protein JAZ FGFR4 5q35.3 fibroblast growth factor receptor 4 NSD1 5q35.1-q35.3 nuclear receptor binding SET domain protein 1 RAB24 5q35.3 RAB24, member RAS oncogene family PX19 5q35.3 px19-like protein MXD3 5q35.3 MAX dimerization protein 3 LMAN2 5q35 lectin, mannose-binding 2 RGS14 5q35.3 regulator of G-protein signalling 14 SLC34A1 5q35.1 solute carrier family 34 (sodium phosphate), member 1 LOC345456 5q35.3 similar to profilin 3 F12 5q35.1 coagulation factor XII (Hageman factor) GPRK6 5q35 G protein-coupled receptor kinase 6 MGC10772 5q35.3 hypothetical protein MGC10772 DBN1 5q35.3 drebrin 1 FLJ22570 5q35.3 Dok-like protein DDX41 5q35.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 HSGP25L2G 5q35.3 gp25L2 protein LOC391854 5 similar to Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) ENIGMA 5q34-q35 similar to Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) FLJ10404 5q35.3 hypothetical protein FLJ10404 B4GALT7 5q35.2-q35.3 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) LOC202181 5q35.3 hypothetical protein LOC202181 NY-REN-7 5q35.3 NY-REN-7 antigen LOC391855 5 similar to olfactory receptor MOR126-1 LOC389349 5 hypothetical gene supported by NM_032361 LOC285647 5q35.3 similar to FLJ00052 protein PROP1 5q11.2 prophet of Pit1, paired-like homeodomain transcription factor LOC389350 5 similar to KIAA0752 protein LOC285658 5q35.3 similar to 60S ribosomal protein L19 N4BP3 5q35.3 similar to 60S ribosomal protein L19 FLJ22318 5q35.3 hypothetical protein FLJ22318 NOLA2 5q35 nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs) GMCL 5q35.3 germ cell-less homolog (Drosophila) HNRPAB 5q35.3 heterogeneous nuclear ribonucleoprotein A/B MGC15875 5q35.3 hypothetical protein MGC15875 COL23A1 5q35.3 collagen, type XXIII, alpha 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1747 - 327 - 2002 12417421
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrinepancreas   highly
    Skeleton    highly Homo sapiens
    Skin/Tegumentskin   moderately Homo sapiens
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage  highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal hydrophobic signal sequence
  • two evolutionary conserved motifs, (163)DVD(165) and (221)FWGWGREDDE(230), are central in the organization of the enzyme active site
  • HOMOLOGY
    interspecies homolog to C.elegans Sqv3
    Homologene
    FAMILY beta-4- galactosyltransferase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • cis Golgi
  • type II transmembrane glycoprotein
  • basic FUNCTION
  • involved in the synthesis of the glycosaminoglycan-protein linkage region of proteoglycans
  • key enzyme initiating glycosaminoglycan (GAG) synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
    manganese Mn2+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EDSP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS