Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.4.1.-
Transferases;
Glycosyltransferases;
Hexosyltransferases;
3.2.1.-
Hydrolases;
Glycosylases;
Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds;
3.2.1.45
Hydrolases;
Glycosylases;
Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds;
glucosylceramidase
3.2.1.46
Hydrolases;
Glycosylases;
Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds;
galactosylceramidase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0008206 | bile acid metabolic process |
| Biological Process | GO:0005975 | carbohydrate metabolic process |
| Biological Process | GO:0007417 | central nervous system development |
| Biological Process | GO:0021954 | central nervous system neuron development |
| Biological Process | GO:0008203 | cholesterol metabolic process |
| Biological Process | GO:0006680 | glucosylceramide catabolic process |
| Biological Process | GO:0016139 | glycoside catabolic process |
| Biological Process | GO:0006687 | glycosphingolipid metabolic process |
| Biological Process | GO:0030259 | lipid glycosylation |
| Biological Process | GO:0030833 | regulation of actin filament polymerization |
| Biological Process | GO:0097035 | regulation of membrane lipid distribution |
| Biological Process | GO:0031113 | regulation of microtubule polymerization |
| Molecular Function | GO:0008422 | beta-glucosidase activity |
| Molecular Function | GO:0004336 | galactosylceramidase activity |
| Molecular Function | GO:0004348 | glucosylceramidase activity |
| Molecular Function | GO:0046527 | glucosyltransferase activity |
| Molecular Function | GO:0050295 | steryl-beta-glucosidase activity |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0090498 | extrinsic component of Golgi membrane |
| Cellular Component | GO:0042406 | extrinsic component of endoplasmic reticulum membrane |
| Cellular Component | GO:0019898 | extrinsic component of membrane |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0005790 | smooth endoplasmic reticulum |
| InterPro
|
InterPro name |
|---|---|
| IPR006775 | Glycosyl-hydrolase family 116, catalytic region |
| IPR008928 | Six-hairpin glycosidase superfamily |
| IPR012341 | Six-hairpin glycosidase-like superfamily |
| IPR014551 | Beta-glucosidase GBA2-type |
| IPR024462 | Glycosyl-hydrolase family 116, N-terminal |
| Pfam
|
Pfam name |
|---|---|
| PF04685 | Glycosyl-hydrolase family 116, catalytic region |
| PF12215 | beta-glucosidase 2, glycosyl-hydrolase family 116 N-term |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1660662 | Glycosphingolipid metabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Endoplasmic reticulum membrane | ECO:0000250 | PubMed:11489889 |
| Golgi apparatus membrane | ECO:0000250 | PubMed:11489889 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000020 | Urinary incontinence |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000518 | Cataract |
| HP:0000570 | Abnormal saccadic eye movements |
| HP:0000639 | Nystagmus |
| HP:0000726 | Dementia |
| HP:0000789 | Infertility |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001257 | Spasticity |
| HP:0001258 | Spastic paraplegia |
| HP:0001260 | Dysarthria |
| HP:0001268 | Mental deterioration |
| HP:0001272 | Cerebellar atrophy |
| HP:0001347 | Hyperreflexia |
| HP:0001348 | Brisk reflexes |
| HP:0001761 | Pes cavus |
| HP:0002015 | Dysphagia |
| HP:0002059 | Cerebral atrophy |
| HP:0002061 | Lower limb spasticity |
| HP:0002064 | Spastic gait |
| HP:0002066 | Gait ataxia |
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0002078 | Truncal ataxia |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002136 | Broad-based gait |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0002310 | Orofacial dyskinesia |
| HP:0002346 | Head tremor |
| HP:0002355 | Difficulty walking |
| HP:0002378 | Hand tremor |
| HP:0002406 | Limb dysmetria |
| HP:0002464 | Spastic dysarthria |
| HP:0002495 | Impaired vibratory sensation |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003487 | Babinski sign |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| HP:0003690 | Limb muscle weakness |
| HP:0003693 | Distal amyotrophy |
| HP:0004905 | Low levels of vitamin A |
| HP:0006938 | Impaired vibration sensation at ankles |
| HP:0006986 | Upper limb spasticity |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007340 | Lower limb muscle weakness |
| HP:0007371 | Corpus callosum atrophy |
| HP:0008003 | Jerky ocular pursuit movements |
| HP:0008734 | Decreased testicular size |
| HP:0010831 | Impaired proprioception |
| HP:0011448 | Ankle clonus |
| HP:0011449 | Knee clonus |
| HP:0011463 | Childhood onset |
| HP:0012207 | Reduced sperm motility |
| HP:0012864 | Abnormal sperm morphology |
| HP:0012865 | Abnormal sperm head morphology |
| HP:0020036 | Upper limb dysmetria |
| HP:0100261 | Abnormal tendon morphology |
| HP:0100513 | Low levels of vitamin E |
| HP:0100543 | Cognitive impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | High | Approved |
| appendix | lymphoid tissue | Low | Approved |
| bone marrow | hematopoietic cells | Medium | Approved |
| breast | glandular cells | Low | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Medium | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | cells in molecular layer | Medium | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | glial cells | Medium | Approved |
| cerebral cortex | neuronal cells | High | Approved |
| cerebral cortex | neuropil | Medium | Approved |
| cervix | squamous epithelial cells | Low | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | Low | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Low | Approved |
| lymph node | non-germinal center cells | Low | Approved |
| nasopharynx | respiratory epithelial cells | High | Approved |
| oral mucosa | squamous epithelial cells | Low | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Low | Approved |
| placenta | decidual cells | Medium | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Low | Approved |
| skin 1 | keratinocytes | Low | Approved |
| small intestine | glandular cells | High | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| soft tissue 1 | fibroblasts | Medium | Approved |
| soft tissue 1 | peripheral nerve | Low | Approved |
| soft tissue 2 | fibroblasts | Low | Approved |
| soft tissue 2 | peripheral nerve | Low | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | High | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | High | Approved |
| tonsil | germinal center cells | Low | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| hereditary spastic paraplegia 46 | MONDO:0013737 | G11 | chapter6, Diseases of the nervous system | OMIM:614409 | Orphanet:320391 |
| autosomal recessive cerebellar ataxia with late-onset spasticity | MONDO:0018129 | G11 | chapter6, Diseases of the nervous system | Orphanet:352641 |