Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0002265 | astrocyte activation involved in immune response |
| Biological Process | GO:0007042 | lysosomal lumen acidification |
| Biological Process | GO:0007041 | lysosomal transport |
| Biological Process | GO:0007040 | lysosome organization |
| Biological Process | GO:0002282 | microglial cell activation involved in immune response |
| Biological Process | GO:1903979 | negative regulation of microglial cell activation |
| Biological Process | GO:0043524 | negative regulation of neuron apoptotic process |
| Biological Process | GO:1902564 | negative regulation of neutrophil activation |
| Biological Process | GO:0060266 | negative regulation of respiratory burst involved in inflammatory response |
| Biological Process | GO:0045766 | positive regulation of angiogenesis |
| Biological Process | GO:1905247 | positive regulation of aspartic-type peptidase activity |
| Biological Process | GO:0048680 | positive regulation of axon regeneration |
| Biological Process | GO:0030335 | positive regulation of cell migration |
| Biological Process | GO:1900426 | positive regulation of defense response to bacterium |
| Biological Process | GO:0010595 | positive regulation of endothelial cell migration |
| Biological Process | GO:0050679 | positive regulation of epithelial cell proliferation |
| Biological Process | GO:0106016 | positive regulation of inflammatory response to wounding |
| Biological Process | GO:1905673 | positive regulation of lysosome organization |
| Biological Process | GO:0043525 | positive regulation of neuron apoptotic process |
| Biological Process | GO:1903334 | positive regulation of protein folding |
| Biological Process | GO:0050821 | protein stabilization |
| Biological Process | GO:0050727 | regulation of inflammatory response |
| Biological Process | GO:0007165 | signal transduction |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0005125 | cytokine activity |
| Molecular Function | GO:0008083 | growth factor activity |
| Molecular Function | GO:0051087 | protein-folding chaperone binding |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0035578 | azurophil granule lumen |
| Cellular Component | GO:0005783 | endoplasmic reticulum |
| Cellular Component | GO:0005768 | endosome |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005576 | extracellular region |
| Cellular Component | GO:0005615 | extracellular space |
| Cellular Component | GO:0005770 | late endosome |
| Cellular Component | GO:0005765 | lysosomal membrane |
| Cellular Component | GO:0005764 | lysosome |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0005802 | trans-Golgi network |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Lysosome | ECO:0000269 | PubMed:21092856 |
| Lysosome | ECO:0000269 | PubMed:26370502 |
| Lysosome | ECO:0000269 | PubMed:28073925 |
| Lysosome | ECO:0000269 | PubMed:28541286 |
| Lysosome | ECO:0000269 | PubMed:28743268 |
| Secreted | ECO:0000269 | PubMed:21092856 |
| Secreted | ECO:0000269 | PubMed:26370502 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000505 | Visual impairment |
| HP:0000556 | Retinal dystrophy |
| HP:0000648 | Optic atrophy |
| HP:0000708 | Atypical behavior |
| HP:0000709 | Psychosis |
| HP:0000710 | Hyperorality |
| HP:0000711 | Restlessness |
| HP:0000713 | Agitation |
| HP:0000716 | Depression |
| HP:0000718 | Aggressive behavior |
| HP:0000719 | Inappropriate behavior |
| HP:0000723 | Restrictive behavior |
| HP:0000726 | Dementia |
| HP:0000733 | Abnormal repetitive mannerisms |
| HP:0000734 | Disinhibition |
| HP:0000737 | Irritability |
| HP:0000738 | Hallucinations |
| HP:0000739 | Anxiety |
| HP:0000741 | Apathy |
| HP:0000751 | Personality changes |
| HP:0000757 | Lack of insight |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001268 | Mental deterioration |
| HP:0001272 | Cerebellar atrophy |
| HP:0001288 | Gait disturbance |
| HP:0001297 | Stroke |
| HP:0001300 | Parkinsonism |
| HP:0001347 | Hyperreflexia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002145 | Frontotemporal dementia |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002171 | Gliosis |
| HP:0002185 | Neurofibrillary tangles |
| HP:0002186 | Apraxia |
| HP:0002300 | Mutism |
| HP:0002354 | Memory impairment |
| HP:0002366 | Abnormal lower motor neuron morphology |
| HP:0002371 | Loss of speech |
| HP:0002380 | Fasciculations |
| HP:0002381 | Aphasia |
| HP:0002427 | Expressive aphasia |
| HP:0002442 | Dyscalculia |
| HP:0002446 | Astrocytosis |
| HP:0002465 | Poor speech |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0002591 | Polyphagia |
| HP:0003678 | Rapidly progressive |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0006977 | Deficit in grammar |
| HP:0007064 | Progressive language deterioration |
| HP:0007112 | Temporal cortical atrophy |
| HP:0008762 | Repetitive compulsive behavior |
| HP:0010522 | Dyslexia |
| HP:0010523 | Alexia |
| HP:0010526 | Dysgraphia |
| HP:0010529 | Echolalia |
| HP:0011204 | EEG with continuous slow activity |
| HP:0012001 | EEG with generalized polyspikes |
| HP:0012444 | Brain atrophy |
| HP:0012658 | Abnormal brain FDG positron emission tomography |
| HP:0012671 | Abulia |
| HP:0025709 | Intermediate young adult onset |
| HP:0030212 | Collectionism |
| HP:0030213 | Emotional blunting |
| HP:0030214 | Hypersexuality |
| HP:0030222 | Visual agnosia |
| HP:0030223 | Manifestations of perseverative thought or action |
| HP:0030391 | Spoken word recognition deficit |
| HP:0030692 | Brain neoplasm |
| HP:0030784 | Anomic aphasia |
| HP:0100256 | Senile plaques |
| HP:0100315 | Lewy bodies |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| neuronal ceroid lipofuscinosis 11 | MONDO:0013866 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:614706 | Orphanet:314629 |
| progressive non-fluent aphasia | MONDO:0015059 | G31 | chapter6, Diseases of the nervous system | Orphanet:100070 |