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 have inositol-polyphosphate 5-phosphatase activity. Involved in several processes, including animal organ development; melanosome transport; and regulation of cilium assembly. Predicted to localize to integral component of membrane. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome and Joubert syndrome 1. Is expressed in eye and pronephric duct. Orthologous to human INPP5E (inositol polyphosphate-5-phosphatase E).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7152772 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 9 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With inpp5e Human Ortholog

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

Associated With inpp5e Via Experimental Models

Human Disease	Fish	Conditions	Citations
Joubert syndrome	inpp5e^tju62/tju62	standard conditions	Xu et al., 2017

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000300	Inositol polyphosphate-related phosphatase
Family	IPR042478	72kDa inositol polyphosphate 5-phosphatase
Homologous_superfamily	IPR036691	Endonuclease/exonuclease/phosphatase superfamily