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Tbio
GALC
Galactocerebrosidase

Protein Summary
Description
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. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000261304
  • ENSP00000261304
  • ENSG00000054983
  • ENST00000393568
  • ENSP00000377198
  • ENST00000393569
  • ENSP00000377199
  • ENST00000544807
  • ENSP00000437513
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.97
disease perturbation
0.9
gene perturbation
0.87
cellular component
0.81
transcription factor
0.78


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 500.46   (req: < 5)
Gene RIFs: 31   (req: <= 3)
Antibodies: 210   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 500.46   (req: >= 5)
Gene RIFs: 31   (req: > 3)
Antibodies: 210   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (7)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body mass index
2
2
2
89
1
1
0
1.3
77.3
basophil count
2
1
2
66.4
basophil percentage of leukocytes
1
1
1
43.2
Epstein Barr viral capsid antigen seropositivity
1
1
0
1.4
40.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body mass index
2
89
0
1.3
77.3
basophil count
2
66.4
basophil percentage of leukocytes
1
43.2
Epstein Barr viral capsid antigen seropositivity
0
1.4
40.5
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
galactosylceramidase
VGNC:3420
736519
Macaque
galactosylceramidase
693322
Mouse
MGI:95636
14420
Rat
RGD:1359384
314360
Dog
galactosylceramidase
VGNC:41079
403916
Species
Name
OMA
EggNOG
Inparanoid
Chimp
galactosylceramidase
Macaque
galactosylceramidase
Mouse
Rat
Dog
galactosylceramidase
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P54803-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (7)
Glycosphingolipid metabolism (R-HSA-1660662)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Glycosphingolipid metabolism
Reactome
Metabolism
Reactome
Metabolism of lipids
Reactome
Sphingolipid metabolism
Name
Explore in Pharos
Explore in Source
Glycosphingolipid metabolism
Metabolism
Metabolism of lipids
Sphingolipid metabolism
Gene Ontology Terms (5)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Protein-Protein Interactions (102)
1 – 10 of 102
TRMT11
Tbio
Family: Enzyme
Novelty: 0.11506701
p_int: 0.999910828
p_ni: 0.000089172
Score: 0.209
Data Source: BioPlex,STRINGDB
EEF2KMT
Tdark
Family: Enzyme
Novelty: 0.33892681
p_int: 0.998970214
p_ni: 0.001029786
Score: 0.209
Data Source: BioPlex,STRINGDB
CLEC11A
Tbio
Novelty: 0.03060601
p_int: 0.996760738
p_ni: 0.003239262
Data Source: BioPlex
NCOA5
Tbio
Novelty: 0.09053523
p_int: 0.99225957
p_ni: 0.00774043
Score: 0.278
Data Source: BioPlex,STRINGDB
OTUD6B
Tbio
Novelty: 0.14800249
p_int: 0.990633711
p_ni: 0.009366289
Score: 0.345
Data Source: BioPlex,STRINGDB
CST7
Tbio
Novelty: 0.03651959
p_int: 0.987738021
p_ni: 0.012261979
Score: 0.188
Data Source: BioPlex,STRINGDB
ESS2
Tbio
Novelty: 0.00163665
p_int: 0.935907436
p_ni: 0.064092564
Data Source: BioPlex
TMEM51
Tdark
Novelty: 0.54147214
p_int: 0.898152606
p_ni: 0.101847394
Score: 0.179
Data Source: BioPlex,STRINGDB
IKZF1
Tbio
Family: TF
Novelty: 0.0016117
p_int: 0.791050447
p_ni: 0.208949553
Data Source: BioPlex
ARSA
Tbio
Family: Enzyme
Novelty: 0.00469851
Score: 0.965
Data Source: STRINGDB
Publication Statistics
PubMed Score  500.46

PubMed score by year
PubTator Score  291.82

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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