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FLASH GENE
Symbol B4GALNT1 contributors: - updated : 13-06-2013
HGNC name beta-1,4-N-acetyl-galactosaminyl transferase 1
HGNC id 4117
Corresponding disease
SPG26 spastic paraplegia 26
Location 12q13.3      Physical location : 58.019.550 - 58.026.985
Synonym name
  • UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1
  • UDP-N-acetyl-alpha-D-galactosamine:N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)
  • UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide-beta-1, 4-N-acetylgalactosaminyltransferase
  • (N-acetylneuraminyl)-galactosylglucosylceramide
  • beta-1,4 N-acetylgalactosaminyltransferase 1
  • beta1-4GalNAc-T
  • beta1,4GalNAC-T
  • GD2 synthase
  • GM2 synthase
  • GM2/GD2 synthase
    • Synonym symbol(s) GALNACT, beta1-4GALNACT, GALGT, Gal-NAc-T, GalNAc-T, GalNAcT, Galgt1, Ggm-2, Ggm2, SPG26
    EC.number 2.4.1.92
    DNA
    TYPE functioning gene
    STRUCTURE 7.34 kb     11 Exon(s)
    MAPPING cloned Y linked   status confirmed
    Map cen - D12S1644 - D12S1691 - B4GALNT1 - D12S90 - D12S305 - qter
    RNA
    TRANSCRIPTS type messenger
    text
  • three distinct transcription initiation sites
  • three distinct transcripts due to the use of three alternative untranslated exons 1a, 1b, 1c (Furukawa)
    • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 2920 - 533 - -
    10 splicing 2428 - 478 - -
    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