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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GLA Gene

protein-coding   GIFtS: 70
GCID: GC0XM100652

Galactosidase, Alpha

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Galactosidase, Alpha1 2     Alpha-Galactosidase A2
Alpha-D-Galactosidase A2 3     melibiase2
EC 3.2.1.223 8     Agalsidase3
GALA2     Melibiase3
Agalsidase Alfa2     Alpha-D-Galactoside Galactohydrolase3
Alpha-D-Galactoside Galactohydrolase 12     EC 3.2.18
Alpha-Gal A2     

External Ids:    HGNC: 42961   Entrez Gene: 27172   Ensembl: ENSG000001023937   OMIM: 3006445   UniProtKB: P062803   

Export aliases for GLA gene to outside databases

Previous GC identifers: GC0XM095944 GC0XM097623 GC0XM098688 GC0XM099424 GC0XM100458 GC0XM100539 GC0XM090459


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GLA Gene:
This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from
glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the
hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis,
processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that
results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. (provided by RefSeq, Jul 2008)

GeneCards Summary for GLA Gene: 
GLA (galactosidase, alpha) is a protein-coding gene. Diseases associated with GLA include fabry disease, and atypical variants of fabry disease, and among its related super-pathways are Sphingolipid metabolism and Galactose metabolism. GO annotations related to this gene include hydrolase activity and protein homodimerization activity. An important paralog of this gene is NAGA.

Gene Wiki entry for GLA (Alpha-galactosidase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GLA gene promoter:
         HOXA9   HOXA9B   C/EBPbeta   p53   GATA-2   CREB   IRF-2   deltaCREB   STAT3   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGLA promoter sequence
   Search SABiosciences Chromatin IP Primers for GLA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq21.3-q22

GLA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLA gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM100652:  view genomic region     (about GC identifiers)

Start:
100,652,779 bp from pter      End:
100,663,001 bp from pter
Size:
10,223 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280 (See protein sequence)
Recommended Name: Alpha-galactosidase A precursor  
Size: 429 amino acids; 48767 Da
Subunit: Homodimer
Subcellular location: Lysosome
Rna editing: Modified_positions=396; Note=Partially edited
6/16 PDB 3D structures from and Proteopedia for GLA (see all 16):
1R46 (3D)        1R47 (3D)        3GXN (3D)        3GXP (3D)        3GXT (3D)        3HG2 (3D)    

Explore the universe of human proteins at neXtProt for GLA: NX_P06280

Explore proteomics data for GLA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P06280

  • 3 DME Specific Peptides for GLA (P06280)
     GLKLGIY  VIAINQD  WNDPDML 

    GLA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GLA Protein Expression
    REFSEQ proteins: NP_000160.1  
    ENSEMBL proteins: 
     ENSP00000218516  
    Reactome Protein details: P06280
    Human Recombinant Protein Products for GLA: 
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    R&D Systems Recombinant & Natural Proteins for GLA (alpha-Galactosidase A/GLA)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for GLA
    OriGene Protein Over-expression Lysate for GLA
    OriGene MassSpec for GLA 
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    Novus Biologicals GLA Proteins
    Novus Biologicals GLA Lysates
    Sino Biological Recombinant Protein for GLA
    Sino Biological Cell Lysate for GLA 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IMP1332979
    GO:0005737cytoplasm IMP1332979
    GO:0005764lysosome TAS3029062
    GO:0005794Golgi apparatus IMP1332979
    GO:0043202lysosomal lumen TAS--

    GLA for ontologies           About GeneDecksing



    GLA Antibody Products: 
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    Abcam antibodies for GLA
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for GLA
    LSBio Antibodies in human, mouse, rat for GLA 

    Assay Products for GLA: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR017853 Glycoside_hydrolase_SF
     IPR002241 Glyco_hydro_27
     IPR000111 Glyco_hydro_GHD
     IPR013780 Glyco_hydro_13_b

    Graphical View of Domain Structure for InterPro Entry P06280

    ProtoNet protein and cluster: P06280

    1 Blocks protein domain: IPB002241 Glycosyl hydrolase family 27 signature

    UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280
    Similarity: Belongs to the glycosyl hydrolase 27 family


    GLA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AGAL_HUMAN, P06280
    Catalytic activity: Hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides,
    including galactose oligosaccharides, galactomannans and galactolipids

         Genatlas biochemistry entry for GLA:
    galactosidase,alpha

         Enzyme Numbers (IUBMB): EC 3.2.1.221 2 EC 3.2.12

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity IDA39940
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004557alpha-galactosidase activity TAS--
    GO:0005102receptor binding IDA1332979
    GO:0005515protein binding IPI1332979
         
    GLA for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gla):
     behavior/neurological  cardiovascular system  cellular  immune system  liver/biliary system 
     muscle  renal/urinary system 

    GLA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Glatm1Kul for GLA

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GLA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GLA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GLA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GLA 

    miRNA
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    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of GLA 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GLA About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    Sphingolipid metabolism0.63
    2Galactose metabolism
    Galactose metabolism0.46
    Galactose metabolism0.46
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Lysosome
    Lysosome
    5Glycerolipid metabolism
    Glycerolipid metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GLA
        Galactose metabolism


    1 GeneGo (Thomson Reuters) Pathway for GLA
        Galactose metabolism


    4        Reactome Pathways for GLA
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins


    5         Kegg Pathways  (Kegg details for GLA):
        Galactose metabolism
    Glycerolipid metabolism
    Sphingolipid metabolism
    Glycosphingolipid biosynthesis - globo series
    Lysosome


    GLA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GLA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/30 Interacting proteins for GLA (P062803 ENSP000002185164) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EHMT2Q96KQ73I2D: score=1 
    ENSG00000206376Q96KQ73I2D: score=1 
    ENSG00000227333Q96KQ73I2D: score=1 
    ENSG00000232045Q96KQ73I2D: score=1 
    ENSG00000236759Q96KQ73I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0009311oligosaccharide metabolic process IDA39940
    GO:0009451RNA modification IEA--

    GLA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GLA for compounds           About GeneDecksing

    EMD Millipore small molecules for GLA:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GLA (AGAL)

    UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280
    Pharmaceutical: Available under the names Replagal (Transkaryotic Therapies) and Fabrazyme (Genzyme). Used as a
    long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease

    10/50 HMDB Compounds for GLA (see all 50)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1,2-Di-(9Z,12Z,15Z-octadecatrienoyl)-3-(Galactosyl-alpha-1-6-Galactosyl-beta-1)-glycerol1,2 Di-(9Z,12Z,15Z-octadecatrienoyl)-3-(Gala1-6Galb1)-sn-glycerol (see all 5)----
    1,2-Dioctadecanoyl-3-(galactosyl-B-1-6-galactosyl-B-1)-glycerolDigalactosyl diacyl glycerol (see all 7)----
    D-Galactose(+)-Galactose (see all 14)59-23-4--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    D-MannoseDL-mannose (see all 13)3458-28-4--
    Epimelibiose ----
    Galabiosylceramide (d18:1/16:0)1-O-(4-O-alpha-D-galactopyranosyl-beta-D-galactopyranosyl)-Ceramide (see all 4)77538-38-6--
    Galabiosylceramide (d18:1/18:0)1-O-(4-O-alpha-D-galactopyranosyl-beta-D-galactopyranosyl)-Ceramide (see all 4)77538-38-6--
    Galabiosylceramide (d18:1/20:0)1-O-(4-O-alpha-D-galactopyranosyl-beta-D-galactopyranosyl)-Ceramide (see all 4)77538-38-6--
    Galabiosylceramide (d18:1/22:0)1-O-(4-O-alpha-D-galactopyranosyl-beta-D-galactopyranosyl)-Ceramide (see all 4)77538-38-6--

    1 DrugBank Compound for GLA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target----

    10/58 Novoseek inferred chemical compound relationships for GLA gene (see all 58)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ceramidetrihexoside 88.4 3 1338214 (1), 10697955 (1)
    fabrazyme 87.7 1 18351385 (1)
    glycosphingolipid 83.2 15 14635108 (1), 1315304 (1), 16805371 (1), 19621417 (1) (see all 14)
    melibiose 81.3 11 1835726 (1), 9058977 (1), 17196483 (1), 1711992 (1) (see all 8)
    p-nitrophenyl alpha-d-galactopyranoside 78.6 2 8948456 (1), 8405947 (1)
    raffinose 78.1 14 1835726 (1), 7671975 (1), 9058977 (1), 17196483 (1) (see all 14)
    stachyose 78.1 4 7671975 (1), 18834998 (1), 1651679 (1), 10570815 (1)
    gamma-carboxyglutamic acid 75.9 47 1498334 (6), 8135347 (4), 17347154 (3), 10668405 (3) (see all 11)
    galactose 73.7 33 8386150 (2), 7575533 (2), 15136043 (2), 2106074 (1) (see all 21)
    globotriosylceramide 69.4 2 8039705 (1), 1886355 (1)

    Search CenterWatch for drugs/clinical trials and news about GLA / AGAL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GLA gene: 
    NM_000169.2  

    Unigene Cluster for GLA:

    Galactosidase, alpha
    Hs.69089  [show with all ESTs]
    Unigene Representative Sequence: NM_000169
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493905 ENST00000218516(uc004ehl.1) ENST00000466414 ENST00000468823
    ENST00000480513 ENST00000486121 ENST00000479445(uc011mrj.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GLA

    Additional mRNA sequence: 

    AK222627.1 AK291095.1 AK297148.1 BC002689.2 BT006864.1 D00039.1 X05790.1 X16889.1 

    13 DOTS entries:

    DT.452710  DT.100882792  DT.121284708  DT.95375140  DT.121284616  DT.100882790  DT.121284614  DT.95311268 
    DT.95375138  DT.101984472  DT.121284594  DT.91812055  DT.95375136 

    24/212 AceView cDNA sequences (see all 212):

    CD365080 CF126942 X05790 BM975033 CD365384 CD367068 BF590466 CD366587 
    BQ934640 CD364682 BQ225444 CD364639 BQ062192 CD365817 CB215536 CB529027 
    BU681392 CB528311 BM450649 BM794851 BU191867 D00039 BE855462 AW135099 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GLA (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b
    SP1:                                            -     -     -                             -     -                     
    SP2:                                      -     -     -     -                                                         
    SP3:                                            -           -                                                         
    SP4:                                            -     -     -     -                                                   
    SP5:                                            -     -     -                                   -                     


    ECgene alternative splicing isoforms for GLA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GLA expression in normal human tissues (normalized intensities)      GLA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTAATGACC
    GLA Expression
    About this image


    GLA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, post-menopause ; glandular cells   
     
     Thyroid (Endocrine System)    fully expand to see all 2 entries
             thyroid gland ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             bronchus ; respiratory epithelial cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See GLA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GLA

    SOURCE GeneReport for Unigene cluster: Hs.69089
        SABiosciences Expression via Pathway-Focused PCR Array including GLA: 
              Nitric Oxide Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GLA gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gla1 , 5 galactosidase, alpha1, 5 82.3(n)1
    78.23(a)1
      X (56.20 cM)5
    116051  NM_013463.21  NP_038491.21 
     1345881495 
    chicken
    (Gallus gallus)
    Aves GLA1 galactosidase, alpha 68.31(n)
    69.63(a)
      422188  XM_420183.3  XP_420183.2 
    lizard
    (Anolis carolinensis)
    Reptilia GLA6
    galactosidase, alpha
    67(a)
    1 ↔ 1
    GL343451.1(251978-259213)
    zebrafish
    (Danio rerio)
    Actinopterygii gla1 galactosidase, alpha 64.53(n)
    65.38(a)
      450083  NM_001006103.1  NP_001006103.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57311 , 3 alpha-N-acetylgalactosaminidase3
    CG57311
    47(a)
    (best of 2)3
    52.55(n)1
    48.83(a)1
      31B13
    343551  NM_135510.21  NP_609354.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R07B7.113
    gana-11
    alpha-N-acetylgalactosaminidase3
    Protein GANA-11
    43(a)3
    52.8(n)1
    44.19(a)1
      V(12089834-12091423)3
    1796601  NM_073630.41  NP_506031.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AGAL21 alpha-galactosidase 2 50.88(n)
    46.71(a)
      830735  NM_120921.4  NP_568193.1 
    rice
    (Oryza sativa)
    Liliopsida Os.174912 Oryza sativa (japonica cultivar-group) putative alpha-galactosidase more 72.94(n)    NM_197139.1 


    ENSEMBL Gene Tree for GLA (if available)
    TreeFam Gene Tree for GLA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GLA gene
    NAGA2  
    2 SIMAP similar genes for GLA using alignment to 2 protein entries:     AGAL_HUMAN (see all proteins):
    alpha-GalA    NAGA

    GLA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/427 SNPs in GLA are shown (see all 427)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0124024
    Fabry disease (FD)4--see VAR_0124022 N S mis40--------
    VAR_0124244
    Fabry disease (FD)4--see VAR_0124242 I F mis40--------
    VAR_0123914
    Fabry disease (FD)4--see VAR_0123912 S R mis40--------
    VAR_0123744
    Fabry disease (FD)4--see VAR_0123742 L P mis40--------
    VAR_0123754
    Fabry disease (FD)4--see VAR_0123752 I T mis40--------
    VAR_0124124
    Fabry disease (FD)4--see VAR_0124122 P R mis40--------
    VAR_0124004
    Fabry disease (FD)4--see VAR_0124002 Y D mis40--------
    VAR_0123674
    Fabry disease (FD)4--see VAR_0123672 H R mis40--------
    VAR_0004344
    Fabry disease (FD)4--see VAR_0004342 P S mis40--------
    VAR_0123814
    Fabry disease (FD)4--see VAR_0123812 W S mis40--------

    HapMap Linkage Disequilibrium report for GLA (100652779 - 100663001 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GLA: --

    Human Gene Mutation Database (HGMD): GLA

    Locus Specific Mutation Databases (LSDB): GLA
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for GLA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300644   
    OMIM disorders: 301500  
    UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280
  • Fabry disease (FD) [MIM:301500]: Rare X-linked sphingolipidosis disease where glycolipid accumulates in
    many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic
    accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes
    throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over
    the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death
    results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease.
    Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal
    opacities. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/60 diseases for GLA (see all 60):    About MalaCards
    fabry disease    atypical variants of fabry disease    classic fabry disease    priapism
    aortic atherosclerosis    cramp-fasciculation syndrome    fabry disease, cardiac variant    anhidrosis
    mucopolysaccharidosis vii    schindler disease    keutel syndrome    sphingolipidosis
    kanzaki disease    fucosidosis    angiokeratoma    hypohidrosis
    gangliosidosis gm1    galactosialidosis    clostridium difficile    danon disease

    6 diseases from the University of Copenhagen DISEASES database for GLA:
    Fabry disease     Angiokeratoma     Hypohidrosis     X-linked disease
    Kidney failure     Proteinuria

    GLA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/27 Novoseek inferred disease relationships for GLA gene (see all 27)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fabry disease 97 151 10838196 (4), 16151917 (3), 12207598 (3), 18633574 (2) (see all 99)
    lysosomal storage diseases 77.8 7 16287034 (1), 8819626 (1), 15712228 (1), 16298216 (1) (see all 7)
    gangliosidosis gm1 50.7 1 15275696 (1)
    proteinuria 49.8 2 17373218 (1)
    anhidrosis 47 1 8726095 (1)
    leukodystrophy metachromatic 44.1 1 15275696 (1)
    cardiomyopathy 43.8 2 16753138 (1), 16619977 (1)
    renal failure 42.9 1 11841613 (1)
    renal disease 35.4 2 19707461 (1), 18431378 (1)
    tay-sachs disease 35 1 15275696 (1)

    Genatlas disease: GLA
    diffuse angiokeratoderma,Fabry disease,typical and atypical

    GeneTests: GLA
    GeneReviews: GLA
    Genetic Association Database (GAD): GLA
    Human Genome Epidemiology (HuGE) Navigator: GLA (30 documents)

    Export disorders for GLA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GLA gene, integrated from 9 sources (see all 403):
    (articles sorted by number of sources associating them with GLA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G> ;A). (PubMed id 19621417)1, 2, 4, 9 Hwu W.L....Hsu L.W. (2009)
    2. Mutations of the GLA gene in young patients with stro ke: the PORTYSTROKE study--screening genetic conditions in Portuguese young str oke patients. (PubMed id 20110537)1, 4, 9 Baptista M.V....Ferro J.M. (2010)
    3. Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population. (PubMed id 17804462)1, 4, 9 Terryn W....De Schoenmakere G. (2008)
    4. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. (PubMed id 15776423)1, 4, 9 Schafer E....Gal A. (2005)
    5. Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. (PubMed id 7626884)1, 2, 9 Oeltjen J.C....Gibbs R.A. (1995)
    6. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PubMed id 15712228)1, 2, 9 Shabbeer J....Desnick R.J. (2005)
    7. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. (PubMed id 7575533)1, 2, 9 Okumiya T....Suzuki Y. (1995)
    8. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. (PubMed id 16754800)1, 4, 9 Morita H....Benjamin E.J. (2006)
    9. Identification of a novel de novo mutation (G373D) in the alpha- galactosidase A gene (GLA) in a patient affected with Fabry disease. (PubMed id 11295840)1, 2, 9 Germain D.P.... Poenaru L. (2001)
    10. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. (PubMed id 10208848)1, 2, 9 Germain D.P. and Poenaru L. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2717 HGNC: 4296 AceView: GLA Ensembl:ENSG00000102393 euGenes: HUgn2717
    ECgene: GLA Kegg: 2717 H-InvDB: GLA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GLA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GLA gene:
    Search GeneIP for patents involving GLA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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