Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:1904903 | ESCRT III complex disassembly |
| Biological Process | GO:0097352 | autophagosome maturation |
| Biological Process | GO:0006914 | autophagy |
| Biological Process | GO:0051301 | cell division |
| Biological Process | GO:0032509 | endosome transport via multivesicular body sorting pathway |
| Biological Process | GO:1902774 | late endosome to lysosome transport |
| Biological Process | GO:0045324 | late endosome to vacuole transport |
| Biological Process | GO:0090148 | membrane fission |
| Biological Process | GO:0061952 | midbody abscission |
| Biological Process | GO:0007076 | mitotic chromosome condensation |
| Biological Process | GO:0007080 | mitotic metaphase plate congression |
| Biological Process | GO:0036258 | multivesicular body assembly |
| Biological Process | GO:0071985 | multivesicular body sorting pathway |
| Biological Process | GO:0061763 | multivesicular body-lysosome fusion |
| Biological Process | GO:0060548 | negative regulation of cell death |
| Biological Process | GO:0010629 | negative regulation of gene expression |
| Biological Process | GO:0031468 | nuclear membrane reassembly |
| Biological Process | GO:0006997 | nucleus organization |
| Biological Process | GO:0001778 | plasma membrane repair |
| Biological Process | GO:0015031 | protein transport |
| Biological Process | GO:0010824 | regulation of centrosome duplication |
| Biological Process | GO:1901673 | regulation of mitotic spindle assembly |
| Biological Process | GO:0043162 | ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway |
| Biological Process | GO:0051469 | vesicle fusion with vacuole |
| Biological Process | GO:0016192 | vesicle-mediated transport |
| Biological Process | GO:0046761 | viral budding from plasma membrane |
| Biological Process | GO:0039702 | viral budding via host ESCRT complex |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0008237 | metallopeptidase activity |
| Molecular Function | GO:0019904 | protein domain specific binding |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0000815 | ESCRT III complex |
| Cellular Component | GO:1904930 | amphisome membrane |
| Cellular Component | GO:0000421 | autophagosome membrane |
| Cellular Component | GO:0000794 | condensed nuclear chromosome |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005769 | early endosome |
| Cellular Component | GO:0012505 | endomembrane system |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0000776 | kinetochore |
| Cellular Component | GO:0005828 | kinetochore microtubule |
| Cellular Component | GO:0005765 | lysosomal membrane |
| Cellular Component | GO:0005815 | microtubule organizing center |
| Cellular Component | GO:0030496 | midbody |
| Cellular Component | GO:0005771 | multivesicular body |
| Cellular Component | GO:0032585 | multivesicular body membrane |
| Cellular Component | GO:0016363 | nuclear matrix |
| Cellular Component | GO:0005643 | nuclear pore |
| Cellular Component | GO:0005886 | plasma membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-9610379 | HCMV Late Events | Leaf | R-HSA-1643685 | Disease |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000463 | Anteverted nares |
| HP:0000483 | Astigmatism |
| HP:0000527 | Long eyelashes |
| HP:0000540 | Hypermetropia |
| HP:0000545 | Myopia |
| HP:0000565 | Esotropia |
| HP:0000574 | Thick eyebrow |
| HP:0000664 | Synophrys |
| HP:0000735 | Impaired social interactions |
| HP:0000998 | Hypertrichosis |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| HP:0001290 | Generalized hypotonia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001344 | Absent speech |
| HP:0001347 | Hyperreflexia |
| HP:0001348 | Brisk reflexes |
| HP:0001387 | Joint stiffness |
| HP:0001629 | Ventricular septal defect |
| HP:0001655 | Patent foramen ovale |
| HP:0001761 | Pes cavus |
| HP:0001762 | Talipes equinovarus |
| HP:0002015 | Dysphagia |
| HP:0002019 | Constipation |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002066 | Gait ataxia |
| HP:0002072 | Chorea |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002376 | Developmental regression |
| HP:0002465 | Poor speech |
| HP:0002650 | Scoliosis |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0004305 | Involuntary movements |
| HP:0004684 | Talipes valgus |
| HP:0005484 | Secondary microcephaly |
| HP:0008936 | Axial hypotonia |
| HP:0010804 | Tented upper lip vermilion |
| HP:0011968 | Feeding difficulties |
| HP:0020045 | Esodeviation |
| HP:0031936 | Delayed ability to walk |
| HP:0034295 | Reduced cerebral white matter volume |
| HP:0100704 | Cerebral visual impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| pontocerebellar hypoplasia type 1a | MONDO:0011866 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:607596 | |
| pontocerebellar hypoplasia type 8 | MONDO:0013990 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:614961 | Orphanet:324569 |