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

Exhibits phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Involved in several processes, including animal organ development; melanosome transport; and phosphatidylinositol dephosphorylation. Predicted to localize to cytoplasm and membrane. Used to study oculocerebrorenal syndrome. Human ortholog(s) of this gene implicated in Dent disease and oculocerebrorenal syndrome. Is expressed in several structures, including heart; immature eye; liver; nervous system; and pleuroperitoneal region. 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