GO Term | Evidence Code | PMID |
---|---|---|
endocytosis | ||
endocytosis | ||
receptor-mediated endocytosis | ||
receptor-mediated endocytosis | ||
endosome organization |
GO Term | Evidence Code | PMID |
---|---|---|
photoreceptor inner segment | ||
cytoplasm | ||
microtubule | ||
plasma membrane | ||
plasma membrane |
GO Term | Evidence Code | PMID |
---|---|---|
RNA binding | ||
GTPase activity | ||
GTPase activity | ||
protein binding | ||
GTP binding |
Gene Ontology |
---|
GTP binding |
microtubule binding |
nucleotide binding |
receptor internalization |
InterPro |
---|
Dynamin, GTPase domain |
Dynamin, N-terminal |
Dynamin-type guanine nucleotide-binding (G) domain |
Dynamin |
P-loop containing nucleoside triphosphate hydrolase |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070376 | developmental and epileptic encephalopathy 31B | |
DOID:0080437 | developmental and epileptic encephalopathy 31A |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000212 | Gingival overgrowth |
HP:0000252 | Microcephaly |
HP:0000283 | Broad face |
HP:0000341 | Narrow forehead |
HP:0000348 | High forehead |
HP:0000369 | Low-set ears |
HP:0000494 | Downslanted palpebral fissures |
HP:0000504 | Abnormality of vision |
Disease ID | Disease Name |
---|---|
OMIM:620352 |
|
OMIM:616346 |
|
ORPHA:2382 |
|
ORPHA:442835 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
1759 | Xenbase:XB-GENE-986845 | ||
1785 | SGD:S000001709 | ||
13429 | Xenbase:XB-GENE-986845 | MOUSE34155 | |
13430 | SGD:S000001709 | ||
103967 | SGD:S000001709 | ||
140694 | Xenbase:XB-GENE-986845 | RATNO27908 | |
491319 | CANLF19406 | ||
508794 | BOVIN03218 | ||
654421 | FELCA30659 | ||
717697 | MACMU12812 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 7, 2025