UniProt | Protein Name |
---|---|
Q9BT40 |
|
GO Term | Evidence Code | PMID |
---|---|---|
G protein-coupled receptor signaling pathway | ||
in utero embryonic development | ||
negative regulation of DNA-templated transcription | ||
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | ||
positive regulation of DNA-templated transcription |
GO Term | Evidence Code | PMID |
---|---|---|
membrane | ||
ruffle membrane | ||
plasma membrane | ||
neuron projection | ||
trans-Golgi network |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | ||
lipid phosphatase activity |
|
|
phosphatidylinositol trisphosphate phosphatase activity | ||
inositol trisphosphate phosphatase activity |
Gene Ontology |
---|
inositol-polyphosphate 5-phosphatase activity |
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity |
InterPro |
---|
Endonuclease/exonuclease/phosphatase superfamily |
Inositol polyphosphate-related phosphatase |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
DOID:0080197 | congenital muscular dystrophy with cataracts and intellectual disability |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001260 | Dysarthria |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001270 | Motor delay |
HP:0001276 | Hypertonia |
Disease ID | Disease Name |
---|---|
OMIM:617404 |
|
ORPHA:559 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
102177657 | CAPHI10179 | |||
102349489 | LATCH05930 | |||
102440108 | MYOLU11610 | |||
102464080 | PELSI03516 | |||
103044237 | ASTMX13729 | |||
103111156 | ERIEU13613 | |||
103180576 | CALMI20696 | |||
103242115 | CHLSB05056 | |||
103275954 | CARSF20523 | |||
103667174 | URSMA14083 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024