UniProt | Protein Name |
---|---|
P50897 |
|
GO Term | Evidence Code | PMID |
---|---|---|
neurotransmitter secretion | ||
negative regulation of apoptotic process | ||
brain development | ||
positive regulation of pinocytosis | ||
nervous system development |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
intracellular membrane-bounded organelle | ||
cytosol | ||
extracellular region | ||
synaptic vesicle |
GO Term | Evidence Code | PMID |
---|---|---|
lysophosphatidic acid binding | ||
sulfatide binding | ||
palmitoyl-(protein) hydrolase activity | ||
protein binding | ||
long-chain acyl-CoA hydrolase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110722 | neuronal ceroid lipofuscinosis 7 | |
DOID:0110723 | neuronal ceroid lipofuscinosis 8 | |
DOID:0110724 | neuronal ceroid lipofuscinosis 8 northern epilepsy variant | |
DOID:0110725 | neuronal ceroid lipofuscinosis 10 | |
DOID:0110726 | neuronal ceroid lipofuscinosis 2 | |
DOID:0110727 | neuronal ceroid lipofuscinosis 13 | |
DOID:0110728 | neuronal ceroid lipofuscinosis 5 | |
DOID:0110729 | neuronal ceroid lipofuscinosis 6A | |
DOID:0110730 | neuronal ceroid lipofuscinosis 6B | |
DOID:0110731 | neuronal ceroid lipofuscinosis 3 |
HPO ID | HPO Term |
---|---|
HP:0010841 | Multifocal epileptiform discharges |
HP:0010845 | EEG with generalized slow activity |
HP:0010850 | EEG with spike-wave complexes |
HP:0010852 | EEG with photoparoxysmal response |
HP:0011147 | Typical absence seizure |
HP:0011167 | Focal tonic seizure |
HP:0011194 | EEG with series of focal spikes |
HP:0011209 | EEG with generalized slow activity grade 4 |
HP:0011951 | Aspiration pneumonia |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
Disease ID | Disease Name |
---|---|
ORPHA:168491 |
|
OMIM:256730 |
|
ORPHA:79263 |
|
ORPHA:79264 |
|
ORPHA:79262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101607749 | JACJA16972 | ||
102439449 | MYOLU11015 | ||
117026674 | RHIFE02375 | ||
100190233 | TAEGU13513 | ||
101810323 | FICAL06397 | ||
103225040 | CHLSB09023 | ||
108530410 | RHIBE08167 | ||
104654886 | RHIRO18546 | ||
107589449 | SINGR27182 | ||
107591677 | SINGR49927 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024