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GLA Gene

protein-coding   GIFtS: 71
GCID: GC0XM100652

Galactosidase, Alpha

  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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 aortic atherosclerosis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011651.18  
Regulatory elements:
   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 Chromatin IP Primers for GLA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280 (See protein sequence)
Recommended Name: Alpha-galactosidase A precursor  
Size: 429 amino acids; 48767 Da
Subunit: Homodimer
Rna editing: Modified_positions=396; Note=Partially edited
Selected PDB 3D structures from and Proteopedia for GLA (see all 16):
1R46 (3D)        1R47 (3D)        3GXN (3D)        3GXP (3D)        3GXT (3D)        3HG2 (3D)    
Secondary accessions: Q6LER7

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

Explore proteomics data for GLA at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys240, Lys326, Lys393
  • Glycosylation2 at Asn139, Asn192, Asn215
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for GLA (P06280)
     GLKLGIY  VIAINQD  WNDPDML 


    See GLA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000160.1  
    ENSEMBL proteins: 
     ENSP00000476935   ENSP00000218516  
    Reactome Protein details: P06280

    GLA Human Recombinant Protein Products:

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    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.

    GLA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GLA
    R&D Systems Antibodies for GLA (alpha-Galactosidase A/GLA)
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    Novus Biologicals GLA Antibodies
    Abcam antibodies for GLA
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for GLA
    LSBio Antibodies in human, mouse, rat for GLA

    GLA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for GLA
    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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: Let us create your new Knockout/Knockin mouse model for GLA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    miRTarBase miRNAs that target GLA:
    hsa-mir-769-5p (MIRT039206), hsa-mir-615-3p (MIRT039851)

    Block miRNA regulation of human, mouse, rat GLA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate GLA
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GLA

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for GLA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GLA (NM_199173)
    Sino Biological Human cDNA Clone for GLA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLA

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


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AGAL_HUMAN, P06280: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome5
    vacuole5
    golgi apparatus4
    endosome2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GLA About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Galactose metabolism
    Galactose metabolism0.44
    Galactose metabolism0.44
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Lysosome
    Lysosome
    5Glycosphingolipid biosynthesis - globo series
    Glycosphingolipid biosynthesis - globo series

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GLA
        Galactose metabolism


    1 Reactome Pathway for GLA
        Glycosphingolipid metabolism


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


    GLA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GLA: 
              Nitric Oxide Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GLA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GLA (P062803 ENSP000002185164) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    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): Selected biological process terms (see all 10):    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:0016139glycoside catabolic process IBA--

    GLA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GLA (AGAL)

    UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280
    Pharmaceutical: Available under the names Replagal (from Shire) and Fabrazyme (from Genzyme). Used as a long-term
    enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease. The differences between
    Replagal (also known as agalsidase alpha) and Fabrazyme (also known as agalsidase beta) lies in the glycosylation
    patterns. Agalsidase beta is produced in the hamster CHO cell line while agalsidase alpha is produced in human
    cell lines

    Selected 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----

    Selected 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)



    GLA for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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)
    miRNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GLA (NM_199173)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLA
    Primer
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    OriGene qPCR primer pairs and template standards for GLA
    OriGene qSTAR qPCR primer pairs in human, mouse for GLA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GLA
      QuantiTect SYBR Green Assays in human, mouse, rat GLA
      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 

    Selected AceView cDNA sequences (see all 212):

    BQ934640 CD364682 CB110014 BM794851 AW517319 CD365817 CD365200 CD364639 
    AU279554 D00039 AI971247 NM_000169 BC002689 BM450649 CR605654 CB529027 
    CA487531 CD367068 BM722327 CD366587 BF590466 BQ225444 CB121364 CB215536 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GLA expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    GLA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GLA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.69089
        Pathway & Disease-focused RT2 Profiler PCR Array including GLA: 
              Nitric Oxide Signaling Pathway in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for GLA
    OriGene qSTAR qPCR primer pairs in human, mouse for GLA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GLA
    QuantiTect SYBR Green Assays in human, mouse, rat GLA
    QuantiFast Probe-based Assays in human, mouse, rat GLA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLA

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GLA gene from Selected species (see all 19)    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_420183.4  XP_420183.2 
    lizard
    (Anolis carolinensis)
    Reptilia GLA6
    galactosidase, alpha
    66(a)
    1 ↔ 1
    GL343451.1(251978-259213)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gla1 galactosidase, alpha 65.22(n)
    66.75(a)
      100145767  NM_001127134.1  NP_001120606.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gla1 galactosidase, alpha 64.02(n)
    64.76(a)
      450083  NM_001006103.1  NP_001006103.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57313
    CG79971
    alpha-N-acetylgalactosaminidase3
    CG79971
    47(a)
    (best of 2)3
    54.3(n)1
    48.12(a)1
      31B13
    368291  NM_166170.21  NP_725571.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R07B7.113 alpha-N-acetylgalactosaminidase 43(a)   V(12089834-12091423)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AGAL21 AGAL2 50.99(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)
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    Paralogs for GLA gene
    NAGA2  
    1 SIMAP similar gene for GLA using alignment to 3 protein entries:     AGAL_HUMAN (see all proteins):
    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GLA (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
    ----------
    rs289354941,2,,4
    CFabry disease (FD)4 pathogenic1100620005(-) TTGGTA/C/GGACCT 3 R G mis1 ese30--------
    rs289354931,2,,4
    CFabry disease (FD)4 pathogenic1100620061(-) GGAACA/GACCTC 2 Q R mis1 ese30--------
    rs289354921,2,,4
    CFabry disease (FD)4 pathogenic1100620373(-) GCAAGC/GGTACC 2 A G mis10--------
    rs289354911,2,,4
    CFabry disease (FD)4 pathogenic1100620377(-) GCAAGA/CAAGGG 2 K Q mis10--------
    rs289354901,2,,4
    C,FFabry disease (FD)4 probable-pathogenic1100620419(-) TTCAGG/TATAAG 2 D Y mis1 ese31Minor allele frequency- T:0.01NA 4552
    rs289354891,2,,4
    CFabry disease (FD)4 pathogenic1100620466(-) CATGTC/TTAATG 2 S F mis1 ese30--------
    rs289354851,2,,4
    CFabry disease (FD)4 pathogenic1100620521(-) GGAATC/GAGCAA 2 Q E mis10--------
    rs289354951,2,,4
    CFabry disease (FD)4 pathogenic1100620541(-) TGGCAA/GCTTTG 2 N S mis10--------
    rs289354881,2,,4
    CFabry disease (FD)4 pathogenic1100620550(-) GTTAGC/TGATTG 2 A V mis1 ese30--------
    rs289354871,2,,4
    CFabry disease (FD)4 pathogenic1100620776(-) CCCAGA/TTATGG 2 D V mis10--------

    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GLA
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for GLA (see all 62):    
    About MalaCards
    fabry disease    aortic atherosclerosis    classic fabry disease    cramp-fasciculation syndrome
    fabry disease, cardiac variant    priapism    sphingolipidosis    anhidrosis
    kanzaki disease    gangliosidosis gm1    schindler disease    keutel syndrome
    hypohidrosis    fucosidosis    angiokeratoma    galactosialidosis
    tay-sachs disease    danon disease    x-linked disease    gangliosidosis

    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

    Selected 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)
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    PubMed articles for GLA gene, integrated from 10 sources (see all 406):
    (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. (Hum. Mutat. 2009)
    2. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients. (PubMed id 20110537)1, 4, 9 Baptista M.V....Ferro J.M. ( a journal of cerebral circulation 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. (Nephrol. Dial. Transplant. 2008)
    4. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. (PubMed id 15776423)1, 4, 9 SchAofer E....Gal A. (Hum. Mutat. 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. (Mamm. Genome 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. (Hum. Mutat. 2005)
    7. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. (PubMed id 7575533)1, 2, 9 Okumiya T....Suzuki Y. (Biochem. Biophys. Res. Commun. 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. (Circulation 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. (Hum. Mutat. 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. (Biochem. Biophys. Res. Commun. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2717 HGNC: 4296 AceView: GLA Ensembl:ENSG00000102393 euGenes: HUgn2717
    ECgene: GLA Kegg: 2717 H-InvDB: GLA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GLA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GLA[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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