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FLASH GENE
Symbol B4GALT1 contributors: - updated : 16-06-2006
HGNC name UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
HGNC id 924
Corresponding disease
CDG2D congenital disorder of glycosylation, type 2D
Location 9p13      Physical location : 33.110.638 - 33.167.356
Synonym name UDP galactose:beta-N-acetyl glucosamine beta 1,4,galactosylransferase 1
Synonym symbol(s) B4GT1,GT1,GGTB2
EC.number 2.4.1.22, 2.4.1.90
DNA
TYPE functioning gene
STRUCTURE 56.00 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned   linked   status confirmed
Physical map
TAF1L 9p13.3 TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa LOC389710 9 similar to hypothetical protein (L1H 3 region) - human LOC392302 9 similar to argininosuccinate synthetase APTX 9p13.3 aprataxin DNAJA1 9p13-p12 DnaJ (Hsp40) homolog, subfamily A, member 1 SMU-1 9p12 homolog of C. elegans smu-1 B4GALT1 9p13 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 SPINK4 9p12 serine protease inhibitor, Kazal type 4 BAG1 9p12 BCL2-associated athanogene HSPC177 NFX1 9p12 nuclear transcription factor, X-box binding 1 AQP7 9p13 aquaporin 7 AQP3 9p13 aquaporin 3 NOL6 9p13.2 nucleolar protein family 6 (RNA-associated) bA255A11.3 9p12 FLJ35740 pseudogene LOC389711 9 similar to hypothetical protein DKFZp434F1719
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- initiation site 4080 - 398 - Hansske
type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis
- initiation site 3900 - 399 lactating mammary tissues, soluble Hansske
protein which is cleaved to form the soluble lactose synthase.localized at the Golgi complex
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrinethyroid    
Nervousbrain    
Respiratorylung    
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
N terminal hydrophobic signal sequence
conjugated GlycoP
mono polymer homomer , heteromer , dimer
HOMOLOGY
Homologene
FAMILY beta-4- galactosyltransferase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,Golgi
text Golgi membrane,type II transmembrane glycoprotein
basic FUNCTION
  • lactose synthetase
  • involved in lactose biosynthesis and glyco conjugates in absence of alpha-lactalbulmin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterodimer with alpha-lactalbumin in lactating mammary tissues
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other downregulated by CDKN2A
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG2D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS