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

GALC Gene

protein-coding   GIFtS: 66
GCID: GC14M088399

galactosylceramidase

(Previous name: galactosylceramidase (Krabbe disease) )
 Explore 27 diseases affiliated with
GALC via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GALC    

Aliases
for GALC gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Galactosylceramidase3     EC 3.2.1.463 8
Galactosylceramidase3     Galactosylceramidase (Krabbe Disease)1
Galactocerebroside Beta-Galactosidase2 3     Galactocerebrosidase1
Galactosylceramide Beta-Galactosidase2 3     Galactosylceraminidase1
GALCERase2 3     

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


Summaries
for GALC 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 GALC:
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)

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)


Genomic Views
for GALC 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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GALC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for GALC 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: GALC_HUMAN, P54803 (See protein sequence)
Recommended Name: Galactocerebrosidase precursor  
Size: 685 amino acids; 77033 Da
Subcellular location: Lysosome
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 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P54803

    • 4/20 DME Specific Peptides for GALC (P54803) (see all 20)
     KLWSSED  KVEIGGD  RILNQNY  GVFEYFTN 

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

    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
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for GALC (Galactosylceramidase/GALC)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 2): GALC
    OriGene Custom Protein Services for GALC 
    GenScript Custom Purified and Recombinant Proteins Services for GALC
    Novus Biologicals GALC Proteins
    Novus Biologicals GALC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GALC

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    GALC for ontologies           About GeneDecksing



    GALC Antibody Products: 
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    Assay Products for GALC: 
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    Uscn ELISAs and CLIAs for GALC

    Protein Domains /
    Families
    for GALC gene

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

    3 InterPro domains/families:
     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 family: IPB001286 Glycosyl hydrolase family 59 signature

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


    Function
    for GALC 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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: GALC
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GALC
    8/22 QIAGEN miScript miRNA 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 plasmid: GALC 3' UTR sequence
    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 GALC (see all 7)
    OriGene shRNA RFP: GALC
    OriGene siRNA: GALC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GALC

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GALC (see all 4)
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    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)
    Browse Sino Biological Human cDNA Clones
    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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    Search LifeMap BioReagents cell lines for GALC

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004336galactosylceramidase activity IEA--
    GO:0043169cation binding IEA--


    GALC for ontologies           About GeneDecksing


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

    Animal Models:
         15/16 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Galc) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  growth/size 
     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


    Pathways & Interactions
    for GALC 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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Sphingolipid metabolism0.54
    		Glycosphingolipid metabolism0.54
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Lysosome
    		Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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


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


    GALC for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GALC

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

    5/29 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006683galactosylceramide catabolic process IEA--
    GO:0006687glycosphingolipid metabolic process TAS--


    GALC for ontologies           About GeneDecksing



    Drugs & Compounds
    for GALC 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

    GALC for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GALC

    10/110 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 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)

    Search CenterWatch for drugs/clinical trials and news about GALC 

    Transcripts
    for GALC 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 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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    8/22 QIAGEN miScript miRNA 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 plasmid: GALC 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GALC

    Additional cDNA 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 

    24/197 AceView cDNA sequences (see all 197):

    D25284 BG236204 AV649529 AI080186 AV708921 AW901057 BM461690 BM449910 
    AV649253 AW950637 CA438695 AI375370 BF446473 AA906870 BP354194 AU129146 
    BM069592 CK903311 BU683613 AA904618 BI962704 AL713037 BM893765 AI888987 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for GALC 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

    GALC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGTGTGATT

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

    GALC expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyPodocyte LayerPodocytesKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.513439

    UniProtKB/Swiss-Prot: GALC_HUMAN, P54803
    Tissue specificity: Highest level of activity in testes compared to brain, kidney, placenta and liver. Can also be
    found in urine

        SABiosciences Expression via Pathway-Focused PCR Arrays including GALC: 
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              Terminal Differentiation Markers in human mouse rat
              Neurotoxicity in human mouse rat

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    Orthologs
    for GALC 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 animals.

    Orthologs for GALC gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Galc1 , 5 galactosylceramidase1, 5 82.94(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 69.17(n)
    71.09(a)    		   423394  XM_421304.3  XP_421304.3 
    lizard
    (Anolis carolinensis)    		 Reptilia GALC6
    		 --
    		 63(a)
    		 1 ↔ 1
    		 1(14010994-14024744)
    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 more 72.69(n)    BC049316.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea C29E4.103   -- 42(a)   III(8009603-8012493)   --


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

    Paralogs
    for GALC gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for GALC 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

    UniProtKB/Swiss-Prot: GALC_HUMAN, P54803
    Polymorphism: Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the
    general population


    10/1349 NCBI SNPs in GALC are shown (see all 1349)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs118497421,2
    		C,F,H,--68569195(+) aatgtC/Tcatta 3 -- ds50012Minor allele frequency- T:0.15NA WA 122
    rs10420351,2
    		C,F,--68570075(-) AATTTG/ATAAGA 3 -- ut311Minor allele frequency- A:0.15NA 120
    rs455721351,2
    		C,--68570492(+) AGAGTT/GATAGT 3 -- ut312Minor allele frequency- G:0.11NA 122
    rs38503761,2
    		--68570806(+) CACACG/AGTCAG 3 -- ut31 ese31Minor allele frequency- A:0.00MN 184
    rs1157071231,2
    		C,F,--68570866(+) CCGCTT/GGCAAA 3 -- ut311Minor allele frequency- G:0.02WA 118
    rs795580461,2
    		C,--68571585(+) NNNNAA/GTATTT 3 -- int12Minor allele frequency- G:0.09NA 122
    rs740724951,2
    		C,--68571932(+) CATCAG/ATTAAA 3 -- int12Minor allele frequency- A:0.10WA 120
    rs796456891,2
    		F,--68572721(+) GGTAAC/TAGAGC 3 -- int11Minor allele frequency- T:0.15NA 120
    rs2003067631,2
    		C--68572867(-) GGCTGG/TGTTTC 3 -- int10--------
    rs121009151,2
    		C,--68573678(+) GCAAAG/AAAGAT 3 -- int12Minor allele frequency- A:0.10WA 120

    HapMap Linkage Disequilibrium report for GALC (88304164 - 88460009 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for GALC
         4 CNVs: 38313 30661 3064 49433
    Human Gene Mutation Database (HGMD): GALC

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for GALC 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
    GALC for disorders           About GeneDecksing

    OMIM gene information: 606890   
    OMIM disorders: 245200  
    UniProtKB/Swiss-Prot: GALC_HUMAN, P54803
  • Defects in GALC are the cause of leukodystrophy globoid cell (GLD) [MIM:245200]; also known as Krabbe disease.
    • This autosomal recessive disorder results in the insufficient catabolism of several galactolipids that are important
    in the production of normal myelin. Clinically, the most frequent form is the infantile form. Most patients (90%)
    present 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. However, a significant number of
    cases with later onset, presenting with unexplained blindness, weakness and/or progressive motor, and sensory
    neuropathy that can progress to severe mental incapacity and death, have been identified

    20/27 diseases for GALC (see all 27):    About MalaCards
    krabbe disease    leukodystrophy    farber lipogranulomatosis    lysosomal storage disease
    spastic paraplegia    metachromatic leukodystrophy    hereditary spastic paraplegia    lipid storage disease
    paraplegia    gaucher's disease    lipogranulomatosis    gliosis
    spasticity    gangliosidosis    motor neuron disease    peripheral neuropathy
    neurodegenerative disease    squamous cell carcinoma    multiple sclerosis    neuropathy

    1 disease from the University of Copenhagen DISEASES database for GALC:
    Krabbe disease

    10/16 Novoseek 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
    Krabbe Disease

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

    Export disorders for GALC gene to outside databases

    Publications
    for GALC 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 GALC gene, integrated from 9 sources (see all 138):
    (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. (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. (2002)
    3. Structure and organization of the human galactocerebrosidase (GALC) gene. (PubMed id 7601472)1, 2, 9 Luzi P.... Wenger D.A. (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. (1993)
    5. Molecular basis of late-life globoid cell leukodystrophy. (PubMed id 10477434)1, 2, 9 De Gasperi R.... Kolodny E.H. (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. (1995)
    7. Krabbe disease: genetic aspects and progress toward therapy. (PubMed id 10833326)1, 2, 9 Wenger D.A.... Costantino-Ceccarini E. (2000)
    8. Molecular heterogeneity of Krabbe disease. (PubMed id 10234611)1, 2, 9 Fu L.... Okada S. (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. (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. (1997)

    External Searches for GALC 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 GALC gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2581 HGNC: 4115 AceView: GALC Ensembl:ENSG00000054983 euGenes: HUgn2581
    ECgene: GALC Kegg: 2581 H-InvDB: GALC

    Other Databases showing GALC gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GALC 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 GALC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GALC

    Intellectual Property
    for GALC gene

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

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