UniProt | Protein Name |
---|---|
A0A8I5KQR6 |
|
A0A8I5KZ76 |
|
Q13496 |
|
GO Term | Evidence Code | PMID |
---|---|---|
endosome to lysosome transport | ||
negative regulation of TOR signaling | ||
proteasome-mediated ubiquitin-dependent protein catabolic process | ||
muscle cell cellular homeostasis | ||
TOR signaling |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol-3-phosphate phosphatase activity | ||
intermediate filament binding | ||
phosphatidylinositol binding | ||
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0080102 | congenital myopathy 4A | |
DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
DOID:0050541 | Charcot-Marie-Tooth disease type 4 | |
DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
DOID:0050759 | myotonic dystrophy type 2 | |
DOID:0050820 | atrioventricular block | |
DOID:0060000 | infective endocarditis | |
DOID:0060249 | scoliosis | |
DOID:0060260 | ptosis | |
DOID:0060261 | congenital ptosis |
HPO ID | HPO Term |
---|---|
HP:0000028 | Cryptorchidism |
HP:0000048 | Bifid scrotum |
HP:0000054 | Micropenis |
HP:0000218 | High palate |
HP:0000238 | Hydrocephalus |
HP:0000256 | Macrocephaly |
HP:0000268 | Dolichocephaly |
HP:0000275 | Narrow face |
HP:0000276 | Long face |
HP:0000278 | Retrognathia |
Disease ID | Disease Name |
---|---|
ORPHA:456328 |
|
ORPHA:596 |
|
OMIM:310400 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
172148 | WB:WBGene00003475 | ||
33845 | FB:FBgn0025742 | ||
103178361 | CALMI01868 | ||
102351041 | LATCH16452 | ||
560881 | ZFIN:ZDB-GENE-051113-128 | DANRE41786 | |
108267553 | ICTPU32912 | ||
113580799 | ELEEL27203 | ||
115194632 | SALTR88814 | ||
115194633 | SALTR88814 | ||
115198579 | SALTR65501 |
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: August 19, 2024