UniProt | Protein Name |
---|---|
Q75T13 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of ER to Golgi vesicle-mediated transport | ||
embryonic pattern specification | ||
sensory perception of sound | ||
GPI anchor metabolic process | ||
anterior/posterior axis specification |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol deacylase activity | ||
hydrolase activity, acting on ester bonds |
|
HPO ID | HPO Term |
---|---|
HP:0000556 | Retinal dystrophy |
HP:0000582 | Upslanted palpebral fissure |
HP:0000639 | Nystagmus |
HP:0000733 | Motor stereotypy |
HP:0000748 | Inappropriate laughter |
HP:0000750 | Delayed speech and language development |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001256 | Intellectual disability, mild |
Disease ID | Disease Name |
---|---|
OMIM:615802 |
|
ORPHA:401820 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113007935 | ASTCA13198 | ||
115587832 | SPAAU27955 | ||
447534 | Xenbase:XB-GENE-5818693 | ||
101946941 | CHRPI22636 | ||
105579987 | CERAT00374 | ||
102139883 | MACFA05666 | ||
696475 | MACMU05679 | ||
105468162 | MACNE08816 | ||
101018135 | PAPAN01368 | ||
105551792 | MANLE26474 |
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
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024