P54818
Gene name |
Galc |
Protein name |
Galactocerebrosidase |
Names |
GALCERase, Galactocerebroside beta-galactosidase, Galactosylceramidase, Galactosylceramide beta-galactosidase |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:14420 |
EC number |
3.2.1.46: Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
15 structures for P54818
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3ZR5 | X-ray | 210 A | A | 40-684 | PDB |
| 3ZR6 | X-ray | 244 A | A | 40-684 | PDB |
| 4CCC | X-ray | 209 A | A | 41-684 | PDB |
| 4CCD | X-ray | 197 A | A | 41-684 | PDB |
| 4CCE | X-ray | 206 A | A | 41-684 | PDB |
| 4UFH | X-ray | 216 A | A | 41-684 | PDB |
| 4UFI | X-ray | 240 A | A | 41-684 | PDB |
| 4UFJ | X-ray | 220 A | A | 41-684 | PDB |
| 4UFK | X-ray | 240 A | A | 43-684 | PDB |
| 4UFL | X-ray | 240 A | A | 43-684 | PDB |
| 4UFM | X-ray | 240 A | A | 43-684 | PDB |
| 5NXB | X-ray | 360 A | A/B | 41-684 | PDB |
| 6Y6S | X-ray | 210 A | A | 41-684 | PDB |
| 6Y6T | X-ray | 225 A | A | 41-684 | PDB |
| AF-P54818-F1 | Predicted | AlphaFoldDB |
36 variants for P54818
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs223514117 | 35 | A>S | No | EVA | |
| rs3389253907 | 146 | L>P | No | EVA | |
| rs3389221010 | 170 | L>F | No | EVA | |
| rs3389262596 | 170 | L>P | No | EVA | |
| rs3402956503 | 174 | Y>F | No | EVA | |
| rs256512444 | 289 | S>G | No | EVA | |
| rs3389262539 | 301 | M>K | No | EVA | |
| rs3389255196 | 372 | A>T | No | EVA | |
| rs3389212464 | 419 | E>K | No | EVA | |
| rs3389250471 | 450 | G>S | No | EVA | |
| rs3389250498 | 460 | E>D | No | EVA | |
| rs218777016 | 480 | P>S | No | EVA | |
| rs3389256465 | 491 | K>N | No | EVA | |
| rs3389250517 | 500 | L>F | No | EVA | |
| rs3389255239 | 506 | N>I | No | EVA | |
| rs3389268529 | 510 | Q>L | No | EVA | |
| rs3389239400 | 528 | T>A | No | EVA | |
| rs3402256711 | 543 | D>V | No | EVA | |
| rs3389250554 | 546 | S>N | No | EVA | |
| rs218529254 | 550 | V>I | No | EVA | |
| rs253538621 | 554 | H>Y | No | EVA | |
| rs3403598667 | 555 | H>Q | No | EVA | |
| rs3389255209 | 572 | S>E | No | EVA | |
| rs3389250270 | 573 | G>C | No | EVA | |
| rs3389248119 | 578 | A>T | No | EVA | |
| rs3389268588 | 594 | V>D | No | EVA | |
| rs3403621857 | 603 | S>C | No | EVA | |
| rs3402256676 | 604 | Y>D | No | EVA | |
| rs32820047 | 623 | V>I | No | EVA | |
| rs3402256653 | 631 | L>P | No | EVA | |
| rs3389250207 | 641 | F>V | No | EVA | |
| rs3389184975 | 658 | P>L | No | EVA | |
| rs32820199 | 663 | A>V | No | EVA | |
| rs3389250491 | 665 | I>T | No | EVA | |
| rs3389227546 | 677 | N>D | No | EVA | |
| rs241177635 | 679 | R>H | No | EVA |
1 associated diseases with P54818
Without disease ID
1 regional properties for P54818
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Glycosyl hydrolase family 59, central domain | 357 - 472 | IPR035394 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.2.1.46 | Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| galactosylceramidase activity | Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| galactosylceramide catabolic process | The chemical reactions and pathways resulting in the breakdown of galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group. |
| myelination | The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P54804 | GALC | Galactocerebrosidase | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P54803 | GALC | Galactocerebrosidase | Homo sapiens (Human) | PR |
| O02791 | GALC | Galactocerebrosidase | Macaca mulatta (Rhesus macaque) | PR |
| Q95QT2 | C29E4.10 | Putative galactocerebrosidase | Caenorhabditis elegans | PR |
| Q5SNX7 | galc | Galactocerebrosidase | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANSQPKASQ | QRQAKVMTAA | AGSASRVAVP | LLLCALLVPG | GAYVLDDSDG | LGREFDGIGA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSGGGATSRL | LVNYPEPYRS | EILDYLFKPN | FGASLHILKV | EIGGDGQTTD | GTEPSHMHYE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LDENYFRGYE | WWLMKEAKKR | NPDIILMGLP | WSFPGWLGKG | FSWPYVNLQL | TAYYVVRWIL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAKHYHDLDI | DYIGIWNERP | FDANYIKELR | KMLDYQGLQR | VRIIASDNLW | EPISSSLLLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QELWKVVDVI | GAHYPGTYTV | WNAKMSGKKL | WSSEDFSTIN | SNVGAGCWSR | ILNQNYINGN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MTSTIAWNLV | ASYYEELPYG | RSGLMTAQEP | WSGHYVVASP | IWVSAHTTQF | TQPGWYYLKT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VGHLEKGGSY | VALTDGLGNL | TIIIETMSHQ | HSMCIRPYLP | YYNVSHQLAT | FTLKGSLREI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QELQVWYTKL | GTPQQRLHFK | QLDTLWLLDG | SGSFTLELEE | DEIFTLTTLT | TGRKGSYPPP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PSSKPFPTNY | KDDFNVEYPL | FSEAPNFADQ | TGVFEYYMNN | EDREHRFTLR | QVLNQRPITW |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AADASSTISV | IGDHHWTNMT | VQCDVYIETP | RSGGVFIAGR | VNKGGILIRS | ATGVFFWIFA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NGSYRVTADL | GGWITYASGH | ADVTAKRWYT | LTLGIKGYFA | FGMLNGTILW | KNVRVKYPGH |
| 670 | 680 | ||||
| GWAAIGTHTF | EFAQFDNFRV | EAAR |