UniProt | Protein Name |
---|---|
Q92562 |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol biosynthetic process | ||
vacuole organization | ||
locomotory behavior | ||
positive regulation of neuron projection development | ||
negative regulation of myelination |
GO Term | Evidence Code | PMID |
---|---|---|
Golgi membrane | ||
lipid droplet | ||
endosome membrane | ||
early endosome membrane | ||
late endosome membrane |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol-3-phosphate phosphatase activity | ||
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | ||
protein serine/threonine phosphatase activity | ||
protein binding | ||
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity |
InterPro |
---|
SAC domain |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060202 | amyotrophic lateral sclerosis type 11 | |
DOID:0060589 | Yunis-Varon syndrome | |
DOID:0080923 | bilateral parasagittal parieto-occipital polymicrogyria | |
DOID:0110184 | Charcot-Marie-Tooth disease type 4J |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000047 | Hypospadias |
HP:0000054 | Micropenis |
HP:0000059 | Hypoplastic labia majora |
HP:0000162 | Glossoptosis |
HP:0000174 | Abnormal palate morphology |
HP:0000187 | Broad alveolar ridges |
HP:0000188 | Short upper lip |
Disease ID | Disease Name |
---|---|
ORPHA:803 |
|
OMIM:612691 |
|
ORPHA:208441 |
|
ORPHA:3472 |
|
OMIM:612577 |
|
OMIM:611228 |
|
OMIM:216340 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
9896 | Xenbase:XB-GENE-6489144 | ||
33658 | ZFIN:ZDB-GENE-130213-1 | ||
103199 | MOUSE00601 | ||
309855 | RATNO22448 | ||
462932 | PANTR38847 | ||
475023 | CANLF03057 | ||
534118 | BOVIN35551 | ||
699914 | MACMU35370 | ||
855392 | ZFIN:ZDB-GENE-130213-1 | ||
100029200 | MONDO12829 |
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: April 7, 2025