Gene
inpp5e
- ID
- ZDB-GENE-050809-23
- Name
- inositol polyphosphate-5-phosphatase E
- Symbol
- inpp5e Nomenclature History
- Previous Names
-
- im:7152772
- zgc:165612 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within several processes, including epithelial cell differentiation involved in kidney development; melanosome transport; and regulation of cilium assembly. Predicted to be located in membrane. Predicted to be active in Golgi apparatus; axoneme; and nucleus. Is expressed in eye and pronephric duct. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome and Joubert syndrome 1. Orthologous to human INPP5E (inositol polyphosphate-5-phosphatase E).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152772 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 1 | Alliance | Joubert syndrome 1 | 213300 |
| Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome | 610156 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Joubert syndrome | inpp5etju62/tju62 | standard conditions | Xu et al., 2017 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | 72kDa inositol polyphosphate 5-phosphatase | Endonuclease/exonuclease/phosphatase superfamily | Inositol polyphosphate-related phosphatase |
|---|---|---|---|---|
|
UniProtKB:A0A8M1NEC2
|
635 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
inpp5e-201
(1)
|
Ensembl | 2,243 nt | ||
| mRNA |
inpp5e-202
(1)
|
Ensembl | 2,480 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab2-inpp5e | polyclonal | IgG | Rabbit |
|
Proteintech
|
2 | |
| Ab1-inpp5e | polyclonal | IgG | Mouse |
|
Abcam plc
|
2 |
Plasmids
No data available