UniProt | Protein Name |
---|---|
Q9BT40 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of calcium ion transport | ||
positive regulation of renal water transport | ||
protein localization to plasma membrane | ||
negative regulation of peptidyl-serine phosphorylation | ||
negative regulation of transcription, DNA-templated |
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 |
---|---|---|---|---|
101066042 | TAKRU03971 | |||
101085842 | FELCA31778 | |||
101115806 | SHEEP02601 | |||
101124081 | 9595_0:00484b | GORGO13519 | ||
101568699 | OCTDE13579 | |||
101597543 | JACJA19705 | |||
101683037 | MUSPF15651 | |||
101875341 | MELUD09472 | |||
101948693 | CHRPI08720 | |||
102020444 | CHILA18171 |
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GlyCosmos Portal v4.1.0
Last updated: December 9, 2024