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:0000007 | Autosomal recessive inheritance |
HP:0000135 | Hypogonadism |
HP:0000252 | Microcephaly |
HP:0000486 | Strabismus |
HP:0000518 | Cataract |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0000768 | Pectus carinatum |
HP:0001156 | Brachydactyly |
HP:0001167 | Abnormal finger morphology |
Disease ID | Disease Name |
---|---|
OMIM:617404 |
|
ORPHA:559 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
105985678 | DIPOR12245 | |||
106580790 | SALSA76764 | |||
107582245 | SINGR27478 | |||
108277943 | ICTPU09831 | |||
108524657 | RHIBE17304 | |||
109081047 | CYPCA113968 | |||
109086627 | CYPCA92633 | |||
109317274 | CROPO22363 | |||
110222149 | PHACI22919 | |||
112933092 | VULVU29049 |
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GlyCosmos Portal v4.1.0
Last updated: December 9, 2024