| Gene Information | |
|---|---|
| Gene Name | GALC |
| Organism | Homo sapiens (Human) |
| Gene Length | 685 |
| Protein Names | Galactocerebrosidase (GALCERase) (EC 3.2.1.46) (Galactocerebroside beta-galactosidase) (Galactosylceramidase) (Galactosylceramide beta-galactosidase) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 544 ( ENSG00000054983 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | P54803 |
| Gene Card | GALC |
| Uniprot ID | P54803 |
| Pfam | PF02057; PF17387 |
| In ASD | no |
| Allosteric Prediction | no (-0.607504528) |
| Ortholog in Animals | Alpaca_ GALC ( ortholog_one2one ) Dog_ GALC ( ortholog_one2one ) GuineaPig_ GALC ( ortholog_one2one ) Macaque_ GALC ( ortholog_one2one ) Mouse_ Galc ( ortholog_one2one ) Pig_ GALC ( ortholog_one2one ) Rat_ Galc ( ortholog_one2one ) Rabbit_ GALC ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver. {ECO:0000269|PubMed:8399327}. |
| Pharmacological Animal Models | 0.000730(Chimpanzee);0.001000(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs111887056 rs387906955 rs1555383892 rs370117160 rs746487628 rs756690487 rs147313927 rs145580093 rs374635469 rs1805078 rs997021099 rs963756824 rs34362748 rs886039569 rs1308816724 rs377274761 rs199847983 rs746922378 rs756352952 rs74887188 rs1595215209 rs1057516642 rs387906954 rs1472207768 rs757407613 rs1376496659 rs770485731 rs771232832 rs34134328 rs202135871 rs375867319 rs200960659 rs749893889 rs200378205 rs387906952 rs748573754 rs398607 rs752537626 rs1360345372 rs387906953 rs138577661 rs421262 rs780593419 rs200607029 |
| Subcellular location [CC] | Lysosome. |
| Mouse PG classification | NA |
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