Gene

ocrl

ID

ZDB-GENE-061110-61

Name

OCRL inositol polyphosphate-5-phosphatase

Symbol

ocrl Nomenclature History

Previous Names

OCRL1 (1)
wu:fi09g03
zgc:152864

Type

protein_coding_gene

Location

Chr: 14 Mapping Details/Browsers

Description

Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within several processes, including glomerular filtration; melanosome transport; and phosphatidylinositol dephosphorylation. Predicted to be located in early endosome membrane and phagocytic vesicle membrane. Predicted to be active in cytoplasm; membrane; and neuron projection. Is expressed in several structures, including digestive system; immature eye; nervous system; pleuroperitoneal region; and ventral fin fold. Used to study oculocerebrorenal syndrome. Human ortholog(s) of this gene implicated in Dent disease 2 and oculocerebrorenal syndrome. Orthologous to human OCRL (OCRL inositol polyphosphate-5-phosphatase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 32 figures from 12 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ocrl Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Dent disease	Alliance	Dent disease 2	300555
Dent disease 2	Alliance	Dent disease 2	300555
oculocerebrorenal syndrome	Alliance	Lowe syndrome	309000

Associated With ocrl Via Experimental Models

Human Disease	Fish	Conditions	Citations
oculocerebrorenal syndrome	AB/TL + MO3-ocrl	standard conditions	Coon et al., 2012
oculocerebrorenal syndrome	AB/TL + MO2-ocrl	standard conditions	Coon et al., 2012
oculocerebrorenal syndrome	AB + MO2-ocrl	standard conditions	Gliozzi et al., 2019
oculocerebrorenal syndrome	ocrl^{umc5Tg/umc5Tg}	standard conditions	(4)
oculocerebrorenal syndrome	ocrl^{umc5Tg/umc5Tg}	control	Mondin et al., 2019

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000198	Rho GTPase-activating protein domain
Domain	IPR000300	Inositol polyphosphate-related phosphatase
Domain	IPR031995	Inositol polyphosphate 5-phosphatase, clathrin binding domain
Domain	IPR037787	OCRL1, PH domain
Domain	IPR037793	OCRL1/INPP5B, INPP5c domain
Domain	IPR047078	Inositol polyphosphate 5-phosphatase OCRL, RhoGAP
Domain	IPR048869	OCRL-1/2, ASH domain
Family	IPR046985	Inositol 5-phosphatase
Homologous_superfamily	IPR008936	Rho GTPase activation protein
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR036691	Endonuclease/exonuclease/phosphatase superfamily