Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol B4GALNT1 contributors: - updated : 13-06-2013
HGNC name beta-1,4-N-acetyl-galactosaminyl transferase 1
HGNC id 4117
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   lowly Mus musculusAdult
Digestiveliver   highly Mus musculusAdult
Lymphoid/Immunespleen   highly Mus musculusAdult
Nervousbrain   highly Mus musculusAdult
Reproductivemale systemtestis  highly Mus musculusAdult
Respiratorylung   highly Mus musculusAdult
Urinarykidney   moderately Mus musculusAdult
cell lineage
cell lines increased expression in cancer stem cells
fluid/secretion
at STAGE
Text high levels of expression in mouse development (7-day embryos)
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , dimer
HOMOLOGY
interspecies ortholog to B4GALNT1, Pan troglodytes
ortholog to B4galnt1, Mus musculus
ortholog to B4galnt1, Rattus norvegicus
Homologene
FAMILY glycosyltransferase family 2
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,Golgi
text
  • single-pass type II membrane protein
  • trans Golgi Network
  • basic FUNCTION
  • involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations
  • catalyzes the transfer of N-acetyl-galactosamine into GM3, GD3, and globotriaosylceramide by a beta-1,4 linkage
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , lipid/lipoprotein
    signaling
    biosynthesis of complex gangliosides
    a component homodimer, disulfide-linked
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other converted from a membrane-bound to a soluble form as a result of cleavage by a cathepsin D-like protease in a compartment late in the Golgi secretory pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG26
    Susceptibility no association of B4GALNT1 gene with Type 1 diabetes mellitus, T1DM
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    B4galnt1&
    8722;/&
    8722; mouse lacked all complex gangliosides, exhibits a slight reduction in the neural conduction velocity from the tibial nerve to the somatosensory cortex
  • GM2/GD2 synthase knockout male mice are sterile and have progressive testicular atrophy with the presence of diffuse vacuoles in Sertoli cells and, despite almost normal testosterone levels per mg of testis, a severe reduction of serum testosterone
  • GM2/GD2 synthase knockout mice isplay decreased central myelination, axonal degeneration in both the central and peripheral nervous systems, demyelination in peripheral nerves, and have reduced MAG expression in the central nervous system
  • GM2/GD2 synthase knockout mice develop significant and progressive behavioral neuropathies, including deficits in reflexes, strength, coordination, and balance, progressive gait including reduced stride length, stride width, and increased hindpaw print length as well as a marked reduction in rearing
  • cerebellar granule neurons from Mice neonatal GM2/GD2 synthase knockout have impaired capacity for Ca2+ regulation, gradually degenerated in the presence of high K+ accompanied by progressive elevation of intracellular calcium and onset of apoptosis
  • decreased central myelination in dorsal spinal cord and increased numbers of unmyelinated fibers in GM2/GD2 synthase knockout mice
  • increased astrocyte/microglia proliferation, or alteration of lipid content in glycolipid-enriched membrane (raft) domains in B4galnt1&
  • 8722;/&
    8722; mice
  • expression of neuroplastin gene is significantly higher and neuroplastin protein levels of neuroplastin-55 isoform protein is increased in the hippocampus of B4galnt1 null mice
  • B4galnt1 null mice had relatively little neuroplastin immunoreactivity in the pyramidal layer of CA1 and CA3