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GALC Gene

protein-coding   GIFtS: 67
GCID: GC14M088399

Galactosylceramidase

(Previous name: galactosylceramidase (Krabbe disease))
  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
galactosylceramidase1 2     EC 3.2.1.463 8
Galactosylceramidase3     Galactosylceramidase (Krabbe Disease)1
Galactocerebroside Beta-Galactosidase2 3     Krabbe Disease1
Galactosylceramide Beta-Galactosidase2 3     galactocerebrosidase2
GALCERase2 3     galactosylceraminidase2

External Ids:    HGNC: 41151   Entrez Gene: 25812   Ensembl: ENSG000000549837   OMIM: 6068905   UniProtKB: P548033   

Export aliases for GALC gene to outside databases

Previous GC identifers: GC14M085904 GC14M082216 GC14M086389 GC14M087469 GC14M068569


(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 GALC Gene:
This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide,
galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been
associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice
variants, encoding different isoforms, have been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for GALC Gene:
GALC (galactosylceramidase) is a protein-coding gene. Diseases associated with GALC include infantile krabbe disease, and late-infantile/juvenile krabbe disease. GO annotations related to this gene include galactosylceramidase activity.

UniProtKB/Swiss-Prot: GALC_HUMAN, P54803
Function: Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and
monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of
galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon

Gene Wiki entry for GALC (Galactosylceramidase) 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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALC gene promoter:
         ER-alpha   C/EBPbeta   NF-1   POU3F1   FOXO3   C/EBPalpha   FOXO3b   FAC1   FOXO3a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GALC promoter sequence
   Search Chromatin IP Primers for GALC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALC


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

Entrez Gene cytogenetic band: 14q31   Ensembl cytogenetic band:  14q31.3   HGNC cytogenetic band: 14q31

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M088399:  view genomic region     (about GC identifiers)

Start:
88,304,164 bp from pter      End:
88,460,009 bp from pter
Size:
155,846 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: GALC_HUMAN, P54803 (See protein sequence)
Recommended Name: Galactocerebrosidase precursor  
Size: 685 amino acids; 77033 Da
Caution: It is uncertain whether Met-1 or Met-17 is the initiator
Sequence caution: Sequence=AAA16645.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA80975.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH36518.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA04971.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAA04972.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAA04972.1; Type=Miscellaneous discrepancy; Note=Probable intron
retention; Sequence=BAA24902.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG59160.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B4DKE8 B4DYN1 B4DZJ8 B7Z7Z2 J3KN25 J3KPP8 Q8J030
Alternative splicing: 4 isoforms:  P54803-1   P54803-3   P54803-4   P54803-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GALC: NX_P54803

Explore proteomics data for GALC at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn143, Asn379, Asn403, Asn556, Asn559, Asn602
  • Selected DME Specific Peptides for GALC (P54803) (see all 20)
     KLWSSED  KVEIGGD  RILNQNY  GVFEYFTN 


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

    REFSEQ proteins (3 alternative transcripts): 
    NP_000144.2  NP_001188330.1  NP_001188331.1  

    ENSEMBL proteins: 
     ENSP00000450472   ENSP00000261304   ENSP00000437513   ENSP00000377199   ENSP00000377198  
     ENSP00000451480   ENSP00000452314   ENSP00000451884   ENSP00000452208  
    Reactome Protein details: P54803

    GALC Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for GALC
    OriGene Custom MassSpec
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    Novus Biologicals GALC Proteins
    Novus Biologicals GALC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GALC

    GALC Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GALC
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    Abcam antibodies for GALC
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    LSBio Antibodies in human, mouse, rat for GALC

    GALC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for GALC
    Cloud-Clone Corp. CLIAs for GALC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001286 Glyco_hydro_59
     IPR017853 Glycoside_hydrolase_SF
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry P54803

    ProtoNet protein and cluster: P54803

    1 Blocks protein domain: IPB001286 Glycosyl hydrolase family 59 signature

    UniProtKB/Swiss-Prot: GALC_HUMAN, P54803
    Similarity: Belongs to the glycosyl hydrolase 59 family


    GALC 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: GALC_HUMAN, P54803
    Function: Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and
    monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of
    galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon
    Catalytic activity: D-galactosyl-N-acylsphingosine + H(2)O = D-galactose + N-acylsphingosine
    Biophysicochemical properties: pH dependence: Optimum pH is 4.0-4.4; Temperature dependence: Activity is lost
    after heating at 52 degrees Celsius for five minutes;

         Genatlas biochemistry entry for GALC:
    galactocerebrosidase (galactosyl-ceramide beta-galactosidase),lysosomal

         Enzyme Number (IUBMB): EC 3.2.1.461 2

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004336galactosylceramidase activity ISS--
         
    GALC for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GALC:
     Decreased viability of wild-ty  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Galc) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  liver/biliary system 
     mortality/aging  muscle  nervous system  renal/urinary system  skeleton 

    GALC for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GALC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GALC

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

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GALC (see all 22):
    hsa-miR-140-5p hsa-let-7d hsa-miR-509-5p hsa-miR-3616-5p hsa-let-7c hsa-miR-103a hsa-let-7g hsa-miR-141*
    SwitchGear 3'UTR luciferase reporter plasmidGALC 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GALC

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for GALC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GALC (NM_000153)
    Sino Biological Human cDNA Clone for GALC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALC

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


    (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
    GALC_HUMAN, P54803: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    cytoskeleton2
    plasma membrane2
    cytosol1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005764lysosome TAS7601472
    GO:0043202lysosomal lumen TAS--

    GALC 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 GALC About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GALC
        Glycosphingolipid metabolism


    3 Kegg Pathways  (Kegg details for GALC):
        Sphingolipid metabolism
    Metabolic pathways
    Lysosome


    GALC for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GALC: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Neurotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GALC

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

    Selected Interacting proteins for GALC (ENSP000002613044) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARSAENSP000002161244STRING: ENSP00000216124
    ASAH1ENSP000003711524STRING: ENSP00000371152
    ASAH2ENSP000003788974STRING: ENSP00000378897
    CERKENSP000002162644STRING: ENSP00000216264
    GAL3ST1ENSP000003432344STRING: ENSP00000343234
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006683galactosylceramide catabolic process ISS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    GALC 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 GALC

    Selected HMDB Compounds for GALC (see all 110)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    10 Novoseek inferred chemical compound relationships for GALC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    psychosine 97 35 16805770 (2), 11814461 (2), 15851012 (2), 16169744 (1) (see all 19)
    galactosylceramide 93.2 39 2120388 (4), 2091007 (3), 11814461 (3), 8812733 (2) (see all 21)
    4-methylumbelliferyl-beta-d-glucoside 80.5 2 2120388 (1), 15120640 (1)
    glycolipid 53 4 15707574 (1), 16805770 (1), 14528915 (1)
    glucosylceramide 39.1 1 15944902 (1)
    mannose 6-phosphate 30.4 1 8812733 (1)
    busulfan 25.7 6 2034480 (2), 8101401 (2)
    lipid 0 2 15944902 (1), 8281145 (1)
    fatty acid 0 1 9703182 (1)
    histidine 0 1 11461188 (1)



    GALC 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 GALC gene (4 alternative transcripts): 
    NM_000153.3  NM_001201401.1  NM_001201402.1  NM_001037525.2  

    Unigene Cluster for GALC:

    Galactosylceramidase
    Hs.513439  [show with all ESTs]
    Unigene Representative Sequence: NM_000153
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555000(uc010tvw.1) ENST00000261304(uc001xvt.3 uc010tvy.2 uc001xvu.2 uc010tvx.2)
    ENST00000544807(uc010tvz.1) ENST00000393569 ENST00000393568 ENST00000555179
    ENST00000557316 ENST00000557520 ENST00000474294 ENST00000477716 ENST00000554916
    ENST00000556261 ENST00000554372 ENST00000556879 ENST00000555956
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GALC (see all 22):
    hsa-miR-140-5p hsa-let-7d hsa-miR-509-5p hsa-miR-3616-5p hsa-let-7c hsa-miR-103a hsa-let-7g hsa-miR-141*
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): GALC (NM_000153)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALC
    Primer
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    OriGene qPCR primer pairs and template standards for GALC
    OriGene qSTAR qPCR primer pairs in human, mouse for GALC
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      QuantiTect SYBR Green Assays in human, mouse, rat GALC
      QuantiFast Probe-based Assays in human, mouse, rat GALC

    Additional mRNA sequence: 

    AK294040.1 AK296530.1 AK302519.1 AK302683.1 AK302956.1 BC036518.2 D25283.1 D25284.1 
    L23116.1 U77631.1 

    18 DOTS entries:

    DT.454295  DT.86852322  DT.95091370  DT.100685181  DT.100781074  DT.40105861  DT.95091365  DT.120791775 
    DT.120791793  DT.120791798  DT.120791800  DT.120791804  DT.120791805  DT.120791808  DT.92064835  DT.95091366 
    DT.97788027  DT.95091361 

    Selected AceView cDNA sequences (see all 197):

    CA438695 D25284 AW950637 AW901057 BM461690 AI080186 BM449910 AV649253 
    AV649529 BG236204 AV708921 BE501000 L23116 BI562423 AW337249 BM069836 
    BM783999 BE551558 BM893765 BF446473 CD107397 BU942194 BU683613 AW594632 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GALC (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                          -                 -                                   -                             -                                       
    SP2:                          -                 -                                   -                                                                     
    SP3:                          -                                                                                                                           
    SP4:                          -                 -     -                                                                                                   
    SP5:        -     -     -     -                 -                                                                                                         


    ECgene alternative splicing isoforms for GALC

    (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)
    About This Section

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


    GALC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Pre-myelinating Oligodendrocyte Cells Forebrain White Matter
             Oligodendrocyte-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 4 entries
             Pre-myelinating Oligodendrocyte Cells Spinal Cord White Matter
             Oligodendrocyte-like cells
     
     Oligodendrocytes (Nervous System)    fully expand to see all 3 entries
             Oligodendrocyte-like cells
     
     Peripheral Nervous System (Nervous System)
             Non-myelinating Schwann Cells Peripheral Nerve Domain
     
     Epithelial Cells
             Podocytes Podocyte Layer
    GALC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513439

    UniProtKB/Swiss-Prot: GALC_HUMAN, P54803
    Tissue specificity: Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in
    kidney and liver

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GALC gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galc1 , 5 galactosylceramidase1, 5 82.99(n)1
    82.75(a)1
      12 (49.83 cM)5
    144201  NM_008079.31  NP_032105.21 
     982023005 
    chicken
    (Gallus gallus)
    Aves GALC1 galactosylceramidase 69.11(n)
    70.72(a)
      423394  XM_421304.4  XP_421304.3 
    lizard
    (Anolis carolinensis)
    Reptilia GALC6
    galactosylceramidase
    66(a)
    1 ↔ 1
    1(13985366-14026494)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX847920.12   -- 76.02(n)    BX847920.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi04e072 Danio rerio mRNA similar to galactosylceramidase (Krabbe disease) (cDNA clone MGC56444 IMAGE5612358), complete cds less 72.69(n)    BC049316.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C29E4.103
    CELE_C29E4.101
    CELE_C29E4.101 42(a)3
    47.11(n)1
    36.75(a)1
      III(8009603-8012493)3
    1830021  NM_066325.31  NP_498726.31 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    GALC_HUMAN, P54803: Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in
    the general population


    Selected SNPs for GALC (see all 1657)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs341343281,2,,4
    CLeukodystrophy, globoid cell (GLD)4 --69395805(+) TGAGAG/CTGGTG 6 /T /S mis14Minor allele frequency- C:0.02NA WA 192
    VAR_0644364
    Leukodystrophy, globoid cell (GLD)4--see VAR_0644362 R L mis40--------
    VAR_0139684
    Leukodystrophy, globoid cell (GLD)4--see VAR_0139682 L S mis40--------
    VAR_0139614
    Leukodystrophy, globoid cell (GLD)4--see VAR_0139612 T I mis40--------
    VAR_0139564
    Leukodystrophy, globoid cell (GLD)4--see VAR_0139562 G R mis40--------
    VAR_0033894
    Leukodystrophy, globoid cell (GLD)4--see VAR_0033892 G S mis40--------
    VAR_0033834
    Leukodystrophy, globoid cell (GLD)4--see VAR_0033832 M L mis40--------
    VAR_0644324
    Leukodystrophy, globoid cell (GLD)4--see VAR_0644322 E K mis40--------
    VAR_0644354
    Leukodystrophy, globoid cell (GLD)4--see VAR_0644352 I T mis40--------
    VAR_0033854
    Leukodystrophy, globoid cell (GLD)4--see VAR_0033852 G A mis40--------

    HapMap Linkage Disequilibrium report for GALC (88304164 - 88460009 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for GALC:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665905CNV Deletion23128226
    esv271775CNV Insertion20981092
    dgv382n67CNV Loss20364138
    nsv515709CNV Loss19592680
    nsv9165CNV Gain18304495
    nsv442353CNV CNV18776908
    essv20520CNV CNV17122850
    nsv514759CNV Complex21397061
    dgv653e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): GALC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GALC
    DNA2.0 Custom Variant and Variant Library Synthesis for GALC

    (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

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    OMIM gene information: 606890   
    OMIM disorders: 245200  
    UniProtKB/Swiss-Prot: GALC_HUMAN, P54803
  • Leukodystrophy, globoid cell (GLD) [MIM:245200]: An autosomal recessive disorder characterized by
    insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical
    forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with
    irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without
    infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental
    regression, which progresses to a severe decerebrate condition with no voluntary movements and death from
    respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with
    unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for GALC (see all 35):    
    About MalaCards
    infantile krabbe disease    late-infantile/juvenile krabbe disease    adult krabbe disease    krabbe disease
    leukodystrophy    farber lipogranulomatosis    lipogranulomatosis    metachromatic leukodystrophy
    lipid storage disease    congenital fiber-type disproportion    gangliosidosis    lysosomal storage disease
    gaucher's disease    hereditary spastic paraplegia    primary open angle glaucoma    open-angle glaucoma
    paraplegia    motor neuron disease    hematopoietic stem cell transplantation    glaucoma

    3 diseases from the University of Copenhagen DISEASES database for GALC:
    Krabbe disease     Metachromatic leukodystrophy     Gangliosidosis

    GALC for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GALC gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    krabbe disease 99 249 8281145 (3), 8634707 (3), 11371512 (3), 1521344 (3) (see all 85)
    leukodystrophy globoid cell infantile 89.5 2 11371512 (1), 14572137 (1)
    leukodystrophy 86.2 15 19332366 (1), 11461188 (1), 9595850 (1), 11371512 (1) (see all 9)
    sphingolipidoses 71.3 2 2034480 (1), 8101401 (1)
    demyelination 70.3 2 15781194 (1), 8577041 (1)
    leukodystrophy metachromatic 69.3 2 10713632 (2)
    lysosomal storage diseases 58.1 4 20410102 (1), 16352725 (1)
    demyelinating diseases 46.5 2 15781194 (1), 8577041 (1)
    spastic paraplegia 45.6 3 9272171 (1)
    gliosis 44.1 1 18248608 (1)

    Genatlas disease: GALC
    globoid cell leukodystrophy,Krabbe disease,autosomal recessive,manifested in the 3-6 month of life by marked
    irritability and hypersensitivity to external stimuli,fits of tonic rigidity and spastic quadriparesis leading to
    death at 1-3 years following a very rapidly progressive motor and mental deterioration,characterized by severe
    loss of myelin in the CNS and large multinucleated (globoid) cells in the white matter,also including later onset
    variant forms occuring in childhood or in adulthood

    GeneTests: GALC
    GeneReviews: GALC
    Genetic Association Database (GAD): GALC
    Human Genome Epidemiology (HuGE) Navigator: GALC (2 documents)

    Export disorders for GALC 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 GALC gene, integrated from 10 sources (see all 148):
    (articles sorted by number of sources associating them with GALC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Galactocerebrosidase from human urine: purification and partial characterization. (PubMed id 8399327)1, 2, 9 Chen Y.Q. and Wenger D.A. (Biochim. Biophys. Acta 1993)
    2. Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. (PubMed id 11814461)1, 4, 9 Harzer K....Eggers J. ( international journal of clinical chemistry 2002)
    3. Structure and organization of the human galactocerebrosidase (GALC) gene. (PubMed id 7601472)1, 2, 9 Luzi P.... Wenger D.A. (Genomics 1995)
    4. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. (PubMed id 8281145)1, 2, 9 Chen Y.Q.... Wenger D.A. (Hum. Mol. Genet. 1993)
    5. Molecular basis of late-life globoid cell leukodystrophy. (PubMed id 10477434)1, 2, 9 De Gasperi R.... Kolodny E.H. (Hum. Mutat. 1999)
    6. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. (PubMed id 7581365)1, 2, 9 Rafi M.A.... Wenger D.A. (Hum. Mol. Genet. 1995)
    7. Krabbe disease: genetic aspects and progress toward therapy. (PubMed id 10833326)1, 2, 9 Wenger D.A.... Costantino-Ceccarini E. (Mol. Genet. Metab. 2000)
    8. Molecular heterogeneity of Krabbe disease. (PubMed id 10234611)1, 2, 9 Fu L.... Okada S. (J. Inherit. Metab. Dis. 1999)
    9. Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization. (PubMed id 9434153)1, 2, 9 Sakai N.... Okada S. (Biochim. Biophys. Acta 1998)
    10. Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. (PubMed id 9272171)1, 2, 9 Furuya H.... Kobayashi T. (Hum. Genet. 1997)

    (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: 2581 HGNC: 4115 AceView: GALC Ensembl:ENSG00000054983 euGenes: HUgn2581
    ECgene: GALC Kegg: 2581 H-InvDB: GALC

    (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 GALC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GALC[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 GALC gene:
    Search GeneIP for patents involving GALC

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



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