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FLASH GENE
Symbol GLA contributors: mct/npt - updated : 26-04-2012
HGNC name galactosidase, alpha
HGNC id 4296
Corresponding disease
GLA diffuse angiokeratoderma, Fabry disease
Location Xq22.11      Physical location : 100.652.778 - 100.663.001
Synonym name
  • alpha-D- galactoside galactohydrolase
  • alpha-galactosidase A
  • melibiase
  • agalsidase
  • Synonym symbol(s) GALA, AGAL
    EC.number 3.2.1.22
    DNA
    TYPE functioning gene
    STRUCTURE 10.22 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC392507 X similar to HSPC129 protein LOC158656 Xq22.1 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) PCDH19 Xq13.3 protocadherin 19 TNMD Xq21.33-q23 protocadherin 19 TM4SF6 Xq22 transmembrane 4 superfamily member 6 SRPUL Xq21.33-q23 sushi-repeat protein SYTL4 Xq21.33 synaptotagmin-like 4 (granuphilin-a) LOC392508 X similar to Double-strand-break repair protein rad21 homolog (hHR21) (Nuclear matrix protein 1) (NXP-1) (SCC1 homolog) CSTF2 Xq22.2-q22.3 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa NOX1 Xq22 NADPH oxidase 1 LOC389877 X similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC347424 Xq22.1 similar to TGF beta-inducible nuclear protein 1 (Hairy cell leukemia protein 1) (HUSSY-29) LOC286453 Xq22.1 similar to dJ341D10.1 (novel protein) LOC392509 X similar to hypothetical protein DKFZp761H079 isoform 1 FLJ12687 Xq22.1 hypothetical protein FLJ12687 FLJ14084 Xq22.1 hypothetical protein FLJ14084 FSHPRH1 Xq22 FSH primary response (LRPR1 homolog, rat) 1 LOC392510 X similar to 14-3-3 protein tau (14-3-3 protein theta) DRP2 Xq22 dystrophin related protein 2 TAF7L Xq22.1 TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa TIMM8A Xq22.1 translocase of inner mitochondrial membrane 8 homolog A (yeast) BTK Xq22.1-q22.2 Bruton agammaglobulinemia tyrosine kinase RPL36A Xq26.3-q27.3 ribosomal protein L36a GLA Xq22.11 galactosidase, alpha HNRPH2 Xq21.3-q22 heterogeneous nuclear ribonucleoprotein H2 (H') LOC389878 X LOC389878 MGC40053 Xq22.1 hypothetical protein MGC40053 LOC158948 Xq22.1 protein kinase C, iota pseudogene ALEX1 Xq21.33-q22.2 protein kinase C, iota pseudogene FLJ20811 Xq21.33-q22.3 hypothetical protein FLJ20811 ALEX3 Xq21.33-q22.2 ALEX3 protein ALEX2 Xq21.33-q22.2 ALEX2 protein GKP6 Xq22-q23 glycerol kinase pseudogene 6 NXF5 Xq22 nuclear RNA export factor 5 KIAA1789 Xq21 KIAA1789 protein my048 Xq22.1-q22.3 my048 protein LOC158931 Xq22.1 similar to hypothetical protein MGC15737 LOC340542 Xq22.1 hypothetical protein LOC340542 NXF2 Xq22-q23 nuclear RNA export factor 2 TMSNB Xq21.33-q22.3 thymosin, beta, identified in neuroblastoma cells LOC139707 Xq22.1 similar to checkpoint suppressor 1 NXF4 Xq22 nuclear RNA export factor 4 FLJ12969 Xq22.1-q22.3 hypothetical protein FLJ12969 GASP Xq22.1 G protein-coupled receptor-associated sorting protein LOC114928 Xq22.1 hypothetical protein BC013576 KIAA1701 Xq23 KIAA1701 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1418 48.8 429 - Huerva (2008)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselscapillary   
    Digestiveintestinesmall intestine   
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumear   highly
    Nervousbrainhindbraincerebellum  
    Reproductivefemale systemuteruscervix highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningendothelium  
    Membraneserous membranepericardium  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a (beta/alpha) 8 domain with the active site and an antiparallel beta domain
  • N-linked carbohydrate appears at six sites in the glycoprotein dimer, revealing the basis for lysosomal transport via the mannose-6-phosphate receptor
  • melibiase domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Gla
    Homologene
    FAMILY
  • glycosyl hydrolase 27 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • cleaving alpha-galactosyl residues from glycoconjugates
  • catalyzes hydrolysis of terminal alpha-d-galactosyl residues of glycoconjugates, predominantly globotriaosylceramide (GL-3), in lysosomes
  • is responsible for the breakdown of alpha-galactosides in the lysosome
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Sortilin, is a novel GLA binding protein, with a predominant intracellular expression but also surface expression in the podocyte
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GLA
    Susceptibility to sporadic Parkinson disease
    Variant & Polymorphism other
  • a variant (NG_007119.1:g.4488C>G) within the promoter region, increasibng the risk of Parkinson disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    animal model suggesting a possibility for enzyme remplacement therapy