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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 61
  • 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
  • Galactocerebrosidase 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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Sphingolipid metabolism. 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

Enhancers for GALC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GALC on UCSC Golden Path with GeneCards custom track

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

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:
    77063 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

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

Gene Ontology (GO) - Molecular Function for GALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004336 galactosylceramidase activity TAS --
genes like me logo Genes that share ontologies with GALC: view
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

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for 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

Gene Ontology (GO) - Cellular Components for GALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005764 lysosome TAS 7601472
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GALC: view

Pathways & Interactions for GALC Gene

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

Gene Ontology (GO) - Biological Process for GALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006683 galactosylceramide catabolic process ISS --
GO:0006687 glycosphingolipid 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

(3) Drugs for GALC Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(88) 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:

CRISPR Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for GALC Gene



Protein tissue co-expression partners for GALC Gene

NURSA nuclear receptor signaling pathways regulating expression of GALC Gene:

GALC

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

Primer 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
cow
(Bos Taurus)
Mammalia GALC 34
  • 85.79 (n)
  • 87.45 (a)
GALC 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALC 34
  • 87.59 (n)
  • 89.54 (a)
GALC 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galc 34
  • 82.99 (n)
  • 82.75 (a)
Galc 16
Galc 35
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GALC 34
  • 99.6 (n)
  • 99.85 (a)
GALC 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galc 34
  • 83.28 (n)
  • 82.45 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 68 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GALC 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALC 34
  • 69.11 (n)
  • 70.72 (a)
GALC 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALC 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galc 34
  • 67.19 (n)
  • 68.39 (a)
zebrafish
(Danio rerio)
Actinopterygii galcb 34
  • 63.75 (n)
  • 65.37 (a)
wufi04e07 34
galca 35
  • 64 (a)
OneToMany
galcb 35
  • 63 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C29E4.10 36
  • 42 (a)
CELE_C29E4.10 34
  • 47.11 (n)
  • 36.75 (a)
C29E4.10 35
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToOne
Species where no ortholog for GALC was found in the sources mined by GeneCards:
  • 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

GALC_HUMAN-P54803
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
dgv1953n100 CNV loss 25217958
dgv1954n100 CNV loss 25217958
dgv382n67 CNV loss 20364138
dgv3840n54 CNV loss 21841781
dgv672e212 CNV loss 25503493
esv2665905 CNV deletion 23128226
esv2760008 CNV loss 17122850
esv2761850 CNV loss 21179565
esv3307501 CNV mobile element insertion 20981092
esv3359641 CNV insertion 20981092
esv3581370 CNV loss 25503493
esv3581371 CNV loss 25503493
esv3635266 CNV loss 21293372
esv3635267 CNV gain 21293372
esv3635268 CNV loss 21293372
nsv1047065 CNV loss 25217958
nsv1138323 CNV deletion 24896259
nsv442353 CNV loss 18776908
nsv514759 CNV gain+loss 21397061
nsv515709 CNV loss 19592680
nsv565506 CNV loss 21841781
nsv565511 CNV loss 21841781
nsv9165 CNV gain 18304495
nsv976362 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
GALC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALC

Disorders for GALC Gene

MalaCards: The human disease database

(11) 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
leukodystrophy
  • leukodystrophies
- 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. 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 4 22 65
  2. Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. (PMID: 11814461) Harzer K. … Eggers J. (Clin. Chim. Acta 2002) 3 22 46 65
  3. Krabbe disease: genetic aspects and progress toward therapy. (PMID: 10833326) Wenger D.A. … Costantino-Ceccarini E. (Mol. Genet. Metab. 2000) 3 4 22 65
  4. Molecular heterogeneity of Krabbe disease. (PMID: 10234611) Fu L. … Okada S. (J. Inherit. Metab. Dis. 1999) 3 4 22 65
  5. Molecular basis of late-life globoid cell leukodystrophy. (PMID: 10477434) De Gasperi R. … Kolodny E.H. (Hum. Mutat. 1999) 3 4 22 65

Products for GALC Gene

Sources for GALC Gene

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