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FLASH GENE
Symbol A4GALT contributors: np/ - updated : 29-09-2006
HGNC name alpha 1,4-galactosyltransferase
HGNC id 18149
Corresponding disease
PBGS P blood group system
Location 22q13.2      Physical location : 43.088.127 - 43.116.876
Synonym name
  • alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)
  • histoblood group PKJ,alpha 4 GLCNAC-transferase 1
  • globotriaosylceramide/CD77 synthase
  • alpha 1,4-galactosyltransferase
  • Gb3 synthase
  • CD77 synthase
  • alpha4Gal-T1
  • Synonym symbol(s) A4GT1, A14GALT, P(k), Gb3S, PK, Gb3S, P1
    EC.number 2.4.1.228
    DNA
    TYPE functioning gene
    STRUCTURE 28.75 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SEPT3 22q13.2 septin 3 MGC26816 22q13.31 hypothetical protein MGC26816 NAGA 22q13.2 N-acetylgalactosaminidase, alpha- LOC150368 22q13.31 hypothetical protein LOC150368 LOC91689 22q13.31 hypothetical gene supported by AL449243 NDUFA6 22q13.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa LOC246785 22q13.2 PTD004 pseudogene CYP2D8P2 22q11.22-q11.23 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2 CYP2D8P1 22q13.2-q13.31 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1 TCF20 22q13.3 transcription factor 20 (AR1) LOC388906 22 hypothetical gene supported by BC039496 LOC150371 22q13.31 hypothetical LOC150371 NFAM1 22q13.31 NFAT activation molecule 1 SERHL 22q13.2-q13.31 serine hydrolase-like CGI-96 22q13.2-q13.31 CGI-96 protein dJ222E13.1 22q13 kraken-like dJ222E13.2 22q13.31 similar to CGI-96 PDIP46 RNU12P 22 RNA, U12 small nuclear pseudogene DIA1 22q13.2 diaphorase (NADH) (cytochrome b-5 reductase) A4GALT 22q13.2 alpha 1,4-galactosyltransferase LOC388907 22 similar to ribosomal protein L5; 60S ribosomal protein L5 LOC391337 22 similar to hypothetical protein ARFGAP3 22q13.2-q13.3 ADP-ribosylation factor GTPase activating protein 3 PACSIN2 22q13.31 protein kinase C and casein kinase substrate in neurons 2 TTLL1 22q13.1 tubulin tyrosine ligase-like 1 BIK 22q13.31 BCL2-interacting killer (apoptosis-inducing) MT 22q13.31 malonyl-CoA:acyl carrier protein transacylase (malonyltransferase) BZRP 22q13.31 benzodiazapine receptor (peripheral) KIAA0153 22q13.31 benzodiazapine receptor (peripheral) SCUBE1 22q13.2-q13.3 signal peptide, CUB domain, EGF-like 1 DKFZp547I094 22q13.31 hypothetical protein DKFZp547I094
    regionally located close to P1 gene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2106 - 353 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    Lymphoid/ImmuneB cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text highly in placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • type II membrane protein
  • a short N terminal cytoplasmic sequence
  • a transmembrane spanning segment (TM1)
  • a large catalytic extracellular domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine A4galt
    intraspecies homolog to 4GPcNAc-T(AGLUGT)
    Homologene
    FAMILY
  • alpha 1,4-glycosyltransferase family
  • CATEGORY enzyme , antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    synthesis of glycosphingolipids
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PBGS
    Susceptibility
    Variant & Polymorphism SNP M183K
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS