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Aliases for GALC Gene

Aliases for GALC Gene

  • Galactosylceramidase 2 3 4 5
  • Galactocerebroside Beta-Galactosidase 3 4
  • Galactosylceramide Beta-Galactosidase 3 4
  • EC 3.2.1.46 4 63
  • GALCERase 3 4
  • Testis Tissue Sperm-Binding Protein Li 88E 3
  • Testis Tissue Sperm-Binding Protein Li 89A 3
  • Galactosylceramidase (Krabbe Disease) 2
  • Galactosylceraminidase 3
  • Krabbe Disease 2

External Ids for GALC Gene

Previous GeneCards Identifiers for GALC Gene

  • GC14M085904
  • GC14M082216
  • GC14M086389
  • GC14M087469
  • GC14M088399
  • GC14M068569

Summaries for GALC Gene

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 krabbe disease and infantile krabbe disease. Among its related pathways are Metabolism and Lysosome. GO annotations related to this gene include galactosylceramidase activity.

UniProtKB/Swiss-Prot for GALC Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALC Gene

Genomics for GALC Gene

Regulatory Elements for GALC Gene

Promoters for GALC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GALC on UCSC Golden Path with GeneCards custom track

Genomic Location for GALC Gene

Chromosome:
14
Start:
87,837,820 bp from pter
End:
87,993,665 bp from pter
Size:
155,846 bases
Orientation:
Minus strand

Genomic View for GALC Gene

Genes around GALC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALC Gene

Proteins for GALC Gene

  • Protein details for GALC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54803-GALC_HUMAN
    Recommended name:
    Galactocerebrosidase
    Protein Accession:
    P54803
    Secondary Accessions:
    • B4DKE8
    • B4DYN1
    • B4DZJ8
    • B7Z7Z2
    • J3KN25
    • J3KPP8
    • Q8J030

    Protein attributes for GALC Gene

    Size:
    685 amino acids
    Molecular mass:
    77033 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA16645.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA80975.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH36518.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA04971.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA04972.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA04972.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence={ECO:0000305}; Sequence=BAA24902.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG59160.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for GALC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALC Gene

Proteomics data for GALC Gene at MOPED

Post-translational modifications for GALC Gene

  • Glycosylation at Asn 143, Asn 379, Asn 403, Asn 556, Asn 559, and Asn 602
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for GALC Gene

Suggested Antigen Peptide Sequences for GALC Gene

Graphical View of Domain Structure for InterPro Entry

P54803

UniProtKB/Swiss-Prot:

GALC_HUMAN :
  • Belongs to the glycosyl hydrolase 59 family.
Family:
  • Belongs to the glycosyl hydrolase 59 family.
genes like me logo Genes that share domains with GALC: view

No data available for Gene Families for GALC Gene

Function for GALC Gene

Molecular function for GALC Gene

GENATLAS Biochemistry:
galactocerebrosidase (galactosyl-ceramide beta-galactosidase),lysosomal
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 4.0-4.4.; Temperature dependence: Activity is lost after heating at 52 degrees Celsius for five minutes.;
UniProtKB/Swiss-Prot CatalyticActivity:
D-galactosyl-N-acylsphingosine + H(2)O = D-galactose + N-acylsphingosine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for GALC Gene

genes like me logo Genes that share phenotypes with GALC: view

Human Phenotype Ontology for GALC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GALC Gene

MGI Knock Outs for GALC:
  • Galc tm1b(KOMP)Wtsi

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GALC Gene

Localization for GALC Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALC Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GALC Gene COMPARTMENTS Subcellular localization image for GALC gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
cytoskeleton 2
plasma membrane 2
cytosol 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for GALC Gene

Pathways & Interactions for GALC Gene

genes like me logo Genes that share pathways with GALC: view

Interacting Proteins for GALC Gene

Gene Ontology (GO) - Biological Process for GALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
genes like me logo Genes that share ontologies with GALC: view

No data available for SIGNOR curated interactions for GALC Gene

Drugs & Compounds for GALC Gene

(2) Drugs for GALC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(89) Additional Compounds for GALC Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glucosylceramide
  • 1-O-b-D-Glucopyranosyl-Ceramide
  • 1-O-beta-delta-Glucopyranosyl-Ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • Glc-beta1->1'Cer
85305-87-9
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with GALC: view

Transcripts for GALC Gene

Unigene Clusters for GALC Gene

Galactosylceramidase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GALC Gene

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: - - - - -
SP6: - - -
SP7:
SP8:

Relevant External Links for GALC Gene

GeneLoc Exon Structure for
GALC
ECgene alternative splicing isoforms for
GALC

Expression for GALC Gene

mRNA expression in normal human tissues for GALC Gene

Protein differential expression in normal tissues from HIPED for GALC Gene

This gene is overexpressed in Neutrophil (23.7) and Fetal ovary (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GALC Gene



SOURCE GeneReport for Unigene cluster for GALC Gene Hs.513439

mRNA Expression by UniProt/SwissProt for GALC Gene

P54803-GALC_HUMAN
Tissue specificity: Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.
genes like me logo Genes that share expression patterns with GALC: view

Protein tissue co-expression partners for GALC Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for GALC Gene

Orthologs for GALC Gene

This gene was present in the common ancestor of animals.

Orthologs for GALC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALC 36
  • 100 (a)
OneToOne
GALC 35
  • 99.6 (n)
  • 99.85 (a)
cow
(Bos Taurus)
Mammalia GALC 35
  • 85.79 (n)
  • 87.45 (a)
GALC 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALC 36
  • 81 (a)
OneToOne
GALC 35
  • 87.59 (n)
  • 89.54 (a)
mouse
(Mus musculus)
Mammalia Galc 36
  • 83 (a)
OneToOne
Galc 16
Galc 35
  • 82.99 (n)
  • 82.75 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GALC 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galc 35
  • 83.28 (n)
  • 82.45 (a)
chicken
(Gallus gallus)
Aves GALC 35
  • 69.11 (n)
  • 70.72 (a)
GALC 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALC 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galc 35
  • 67.19 (n)
  • 68.39 (a)
zebrafish
(Danio rerio)
Actinopterygii galca 36
  • 64 (a)
OneToMany
galcb 36
  • 63 (a)
OneToMany
galcb 35
  • 63.75 (n)
  • 65.37 (a)
wufi04e07 35
worm
(Caenorhabditis elegans)
Secernentea CELE_C29E4.10 35
  • 47.11 (n)
  • 36.75 (a)
C29E4.10 37
  • 42 (a)
C29E4.10 36
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToOne
Species with no ortholog for GALC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALC Gene

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

Paralogs for GALC Gene

No data available for Paralogs for GALC Gene

Variants for GALC Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GALC Gene

P54803-GALC_HUMAN
Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.

Sequence variations from dbSNP and Humsavar for GALC Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_003380 Leukodystrophy, globoid cell (GLD)
VAR_003381 Leukodystrophy, globoid cell (GLD)
VAR_003382 Leukodystrophy, globoid cell (GLD)
VAR_003383 Leukodystrophy, globoid cell (GLD)
VAR_003384 Leukodystrophy, globoid cell (GLD)

Structural Variations from Database of Genomic Variants (DGV) for GALC Gene

Variant ID Type Subtype PubMed ID
dgv653e1 CNV Complex 17122850
esv2665905 CNV Deletion 23128226
dgv382n67 CNV Loss 20364138
nsv442353 CNV CNV 18776908
nsv514759 CNV Complex 21397061
essv20520 CNV CNV 17122850
nsv9165 CNV Gain 18304495
nsv515709 CNV Loss 19592680
esv271775 CNV Insertion 20981092

Variation tolerance for GALC Gene

Residual Variation Intolerance Score: 63.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.83; 97.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALC Gene

HapMap Linkage Disequilibrium report
GALC
Human Gene Mutation Database (HGMD)
GALC

Disorders for GALC Gene

MalaCards: The human disease database

(20) MalaCards diseases for GALC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
krabbe disease
  • beta galactocerebrosidase deficiency
infantile krabbe disease
  • krabbe disease, classic form
late-infantile/juvenile krabbe disease
  • krabbe disease, late-onset
adult krabbe disease
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
- elite association - COSMIC cancer census association via MalaCards
Search GALC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GALC_HUMAN
  • 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. {ECO:0000269 PubMed:10234611, ECO:0000269 PubMed:10477434, ECO:0000269 PubMed:17579360, ECO:0000269 PubMed:20886637, ECO:0000269 PubMed:23462331, ECO:0000269 PubMed:8595408, ECO:0000269 PubMed:8786069, ECO:0000269 PubMed:8940268, ECO:0000269 PubMed:9272171}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GALC Gene

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

Relevant External Links for GALC

Genetic Association Database (GAD)
GALC
Human Genome Epidemiology (HuGE) Navigator
GALC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALC
genes like me logo Genes that share disorders with GALC: view

Publications for GALC Gene

  1. Galactocerebrosidase from human urine: purification and partial characterization. (PMID: 8399327) Chen Y.Q. … Wenger D.A. (Biochim. Biophys. Acta 1993) 3 4 23 67
  2. Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. (PMID: 20410102) Lee W.C. … Eckman C.B. (J. Neurosci. 2010) 3 23
  3. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. (PMID: 17579360) Lissens W. … Fiumara A. (Hum. Mutat. 2007) 3 23
  4. Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. (PMID: 16607461) Xu C. … Ozono K. (J. Hum. Genet. 2006) 3 23
  5. Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells. (PMID: 15657896) Beier U.H. … GAPrAPgh T. (Int. J. Cancer 2005) 3 23

Products for GALC Gene

Sources for GALC Gene

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