ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 Golgi cisterna membrane and cilium. 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; Joubert syndrome 1; and intellectual disability. 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 | Additional Resources | Length | 72kDa inositol polyphosphate 5-phosphatase | Endonuclease/exonuclease/phosphatase superfamily | Inositol polyphosphate-related phosphatase |
|---|---|---|---|---|---|
| UniProtKB:A0A8M1NEC2 | InterPro | 635 | |||
| UniProtKB:A0AB32TPT1 | InterPro | 601 | |||
| UniProtKB:A0AC58JKW1 | InterPro | 601 | |||
| UniProtKB:A0AC58JKW6 | InterPro | 635 | |||
| UniProtKB:A0AC58JKX1 | InterPro | 601 |
- Genome Browsers
| 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
- Genome Browsers