Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0048208 | COPII vesicle coating |
| Biological Process | GO:0007030 | Golgi organization |
| Biological Process | GO:0006888 | endoplasmic reticulum to Golgi vesicle-mediated transport |
| Biological Process | GO:0051310 | metaphase plate congression |
| Biological Process | GO:1905342 | positive regulation of protein localization to kinetochore |
| Biological Process | GO:0090234 | regulation of kinetochore assembly |
| Biological Process | GO:0099022 | vesicle tethering |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0030008 | TRAPP complex |
| Cellular Component | GO:1990072 | TRAPPIII protein complex |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment |
| Cellular Component | GO:0000776 | kinetochore |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs | Leaf | R-HSA-5653656 | Vesicle-mediated transport |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Endoplasmic reticulum-Golgi intermediate compartment | ECO:0000269 | PubMed:21525244 |
| Nucleus | ECO:0000269 | PubMed:25918224 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000011 | Neurogenic bladder |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000648 | Optic atrophy |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001298 | Encephalopathy |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0001561 | Polyhydramnios |
| HP:0001605 | Vocal cord paralysis |
| HP:0002015 | Dysphagia |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002119 | Ventriculomegaly |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002376 | Developmental regression |
| HP:0002490 | Increased CSF lactate |
| HP:0002521 | Hypsarrhythmia |
| HP:0002650 | Scoliosis |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003676 | Progressive |
| HP:0005484 | Secondary microcephaly |
| HP:0007096 | Hypoplasia of the optic tract |
| HP:0008936 | Axial hypotonia |
| HP:0009879 | Simplified gyral pattern |
| HP:0011097 | Epileptic spasm |
| HP:0011344 | Severe global developmental delay |
| HP:0011451 | Primary microcephaly |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0011968 | Feeding difficulties |
| HP:0012110 | Hypoplasia of the pons |
| HP:0012510 | Extra-axial cerebrospinal fluid accumulation |
| HP:0012796 | Increased cup-to-disc ratio |
| HP:0030043 | Hip subluxation |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI |
| HP:0034311 | Hypoplastic optic chiasm |
| HP:0034353 | Appendicular spasticity |
| HP:0100704 | Cerebral visual impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | MONDO:0044696 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:617669 | Orphanet:500144 |