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

GLA Gene

protein-coding   GIFtS: 68
GCID: GC0XM100652

galactosidase, alpha
 Explore 64 diseases affiliated with
GLA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GLA    

Aliases
for GLA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Galactosidase, Alpha1 2     Alpha-Galactosidase A2
GALA1 2     Melibiase3
Alpha-D-Galactosidase A2 3     Agalsidase3
EC 3.2.1.223 8     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


Summaries
for GLA gene

(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:
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)

Gene Wiki entry for GLA (Alpha-galactosidase)


Genomic Views
for GLA 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  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 plasmid: GLA 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

Proteins
for GLA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P06280

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

    GLA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000160.1  
    ENSEMBL proteins: 
     ENSP00000218516  
    Reactome Protein details: P06280
    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for GLA (alpha-Galactosidase A/GLA)
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    OriGene Purified Protein: GLA
    OriGene Protein Over-expression Lysate: GLA
    OriGene Custom Protein Services for GLA 
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    Novus Biologicals GLA Proteins
    Novus Biologicals GLA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IMP1332979
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IMP1332979
    GO:0005764lysosome TAS3029062
    GO:0005794Golgi apparatus IMP1332979


    GLA for ontologies           About GeneDecksing



    GLA Antibody Products: 
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    Assay Products for GLA: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for GLA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GLA for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: IPB002241 Glycosyl hydrolase family 27 signature

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


    Function
    for GLA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GLA
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate GLA
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GLA (see all 7)
    OriGene shRNA RFP: GLA
    OriGene siRNA: GLA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GLA

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GLA

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GLA (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GLA (see all 2)
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    GenScript: all cDNA clones in your preferred vector: GLA (NM_199173)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLA 

    Cell Line
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    Search LifeMap BioReagents cell lines for GLA

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

    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:0004557alpha-galactosidase activity TAS--
    GO:0005102receptor binding IDA1332979
    GO:0005515protein binding IPI1332979
    GO:0016787hydrolase activity TAS7911050


    GLA for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Glatm1Kul for GLA
         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


    Pathways & Interactions
    for GLA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Sphingolipid metabolism0.54
    		Glycosphingolipid metabolism0.54
    2Galactose metabolism
    		Galactose metabolism1.00
    		Galactose metabolism0.47
    		Galactose metabolism0.95
    3Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    4Lysosome
    		Lysosome1.00
    5Glycerolipid metabolism
    		Glycerolipid metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/25 Interacting proteins for GLA (P062803 ENSP000002185164) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OTUD4Q018043, ENSP000004092794I2D: score=2 STRING: ENSP00000409279
    EHMT2Q96KQ73I2D: score=1 
    GABARAPO951663I2D: score=1 
    KLHDC10Q6PID83I2D: score=1 
    ARSAENSP000002161244STRING: ENSP00000216124
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    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



    Drugs & Compounds
    for GLA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    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 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 

    Transcripts
    for GLA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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)

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GLA (see all 7)
    OriGene shRNA RFP: GLA
    OriGene siRNA: GLA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GLA
    Clone
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    GenScript: all cDNA clones in your preferred vector: GLA (NM_199173)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GLA

    Additional cDNA 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):

    CD366940 BU191867 CR617861 CB528859 CD366587 BM722327 CD365034 CD366650 
    CN480771 CD364682 BU681392 AW517319 CB529635 AW731746 CR607242 CD365189 
    BT006864 BQ934640 NM_000169 CB528519 CD365200 BM450649 BU615633 BE855462 

    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

    Expression
    for GLA gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTAATGACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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

    Primer
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    QIAGEN 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
    for GLA gene

    (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 8/27 species (see all 27)    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
    		 --
    		 70(a)
    		 1 ↔ 1
    		 GL343451.1(254807-258589)
    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
    for GLA gene

    (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



    Genomic Variants
    for GLA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/229 NCBI SNPs in GLA are shown (see all 229)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs20712251,2
    		C,O,non-pathogenic100662901(-) CCGGTT/CACCGT 5 -- us2k1 int1 ut51 ese31Minor allele frequency- C:0.00NA 1
    rs1048948521,2
    		Cpathogenic100652859(-) ATCCCA/GCAGGC 4 T A mis1 int10--------
    rs1048948441,2
    		Cpathogenic100652895(-) TCTATG/TAATGG 4 E * int1 stg10--------
    rs1048948491,2
    		Cpathogenic100652992(-) TCTTAA/TACCAT 4 * Y stg1 int10--------
    rs289354941,2
    		Cpathogenic100653006(-) TTGGTA/C/GGACCT 5 R G mis1 int1 ese32NA 4
    rs1048948271,2
    		Cpathogenic100653021(-) TAAACC/TGGCAG 4 R W mis1 int10--------
    rs289354931,2
    		Cpathogenic100653062(-) GGAACG/AACCTC 4 /Q /R int1 mis1 ese32Minor allele frequency- A:0.00NA 4
    rs1048948431,2
    		Cpathogenic100653063(-) GGGAAC/TGACCT 4 R * stg1 int10--------
    rs289354921,2
    		Cpathogenic100653374(-) GCAAGG/CGTACC 4 /A /G mis1 int12Minor allele frequency- C:0.00NA 4
    rs1048948321,2
    		Cpathogenic100653375(-) AGCAAA/GGGTAC 4 R G int1 mis10--------

    HapMap Linkage Disequilibrium report for GLA (100652779 - 100663001 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GLA
    DNA2.0 Custom Variant and Variant Library Synthesis for GLA

    Disorders / Diseases
    for GLA gene

    (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.)
    About This Section
    GLA for disorders           About GeneDecksing

    OMIM gene information: 300644   
    OMIM disorders: 301500  
    UniProtKB/Swiss-Prot: AGAL_HUMAN, P06280
  • Defects in GLA are the cause of Fabry disease (FD) [MIM:301500]. FD is a 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 globotriaoslyceramide (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

    20/64 diseases for GLA (see all 64):    About MalaCards
    fabry disease    tay-sachs disease    fabry disease, cardiac variant    gangliosidosis gm1
    cramp-fasciculations syndrome    lysosomal storage disease    atypical variants of fabry disease    mucopolysaccharidosis vii
    classic fabry disease    gangliosidosis    clostridium difficile    anhidrosis
    glycogen storage disease    schindler disease    autonomic dysfunction    sickle cell disease
    keutel syndrome    kanzaki disease    sphingolipidosis    x inactivation

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

    10/27 Novoseek 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
    Fabry Disease

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

    Export disorders for GLA gene to outside databases

    Publications
    for GLA gene

    (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 398):
    (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, 9 Hwu W.L....Hsu L.W. (2009)
    2. 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)
    3. 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)
    4. 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)
    5. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. (PubMed id 7575533)1, 2, 9 Okumiya T....Suzuki Y. (1995)
    6. 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)
    7. 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)
    8. Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion. (PubMed id 7503918)1, 2, 9 Novo F.J.... Gorecki D.C. (1995)
    9. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    10. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. (PubMed id 15003450)1, 2 Garman S.C. and Garboczi D.N. (2004)

    External Searches for GLA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GLA gene

    (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

    Other Databases showing GLA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GLA gene

    (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

    Intellectual Property
    for GLA gene

    (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



    Products
    for GLA gene

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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

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