Ocrl OCRL, inositol polyphosphate-5-phosphatase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ocrlprovided by MGI
Official Full Name: OCRL, inositol polyphosphate-5-phosphataseprovided by MGI
Primary source: MGI:MGI:109589
See related: Ensembl:ENSMUSG00000001173 AllianceGenome:MGI:109589
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: OCRL1; 9530014D17Rik
Summary: Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within in utero embryonic development and phosphatidylinositol dephosphorylation. Predicted to be located in several cellular components, including cytoplasmic vesicle; photoreceptor outer segment; and trans-Golgi network. Predicted to be active in cytoplasm; membrane; and neuron projection. Is expressed in several structures, including genitourinary system; liver; maxillary process; musculature; and spleen. Human ortholog(s) of this gene implicated in Dent disease 2 and oculocerebrorenal syndrome. Orthologous to human OCRL (OCRL inositol polyphosphate-5-phosphatase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 9.9), frontal lobe adult (RPKM 8.3) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A4; X 25.43 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (47001289..47055305)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (47912418..47966428)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.
Title: SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.
OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring.
Title: OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring.
These studies substantiate the first mouse model of Lowe syndrome and give insights into the role of OCRL in cellular trafficking of multiligand receptors. These insights open new avenues for therapeutic interventions in Lowe syndrome and Dent disease.
Title: OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
These results suggest that the functions of OCRL/INPP5B and proton-chloride exchange transporter 5 converge on shared mechanisms, the impairment of which has a dramatic effect on proximal tubule endocytosis
Title: Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.
OCRL mRNA and protein were downregulated in osteoarthritis knee cartilage. OCRL inhibits Rac1 activation in OA.
Title: Down-regulation of Rac GTPase-activating protein OCRL1 causes aberrant activation of Rac1 in osteoarthritis development.
Implications of OCRL and TRPV4 in primary cilia function may also shed light on mechanosensation in other organ systems.
Title: Primary cilia signaling mediates intraocular pressure sensation.
Bcl10 was required to locally deliver the vesicular OCRL phosphatase that regulates PI(4,5)P(2) and F-actin turnover, both crucial for the completion of phagosome closure.
Title: The NF-κB signaling protein Bcl10 regulates actin dynamics by controlling AP1 and OCRL-bearing vesicles.
These results indicate a functional overlap of Ocrl and Inpp5b in most cell lineages, especially in extraembryonic tissues.
Title: X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice.
The results indicate that OCRL1 restricts intracellular growth of L. pneumophila and binds to Legionella-containing vacuoles in association with Legionella LpnE.
Title: The inositol polyphosphate 5-phosphatase OCRL1 restricts intracellular growth of Legionella, localizes to the replicative vacuole and binds to the bacterial effector LpnE.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ocrl (e-PCR), detects polymorphism
- UniSTS:259334

BB143339 (e-PCR)
- UniSTS:186170

NoName (e-PCR)
- UniSTS:238021

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables GTPase activator activity	ISO Inferred from Sequence Orthology more info
enables inositol phosphate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables inositol phosphate phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within in utero embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in phagocytic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: inositol polyphosphate 5-phosphatase OCRL

Names: inositol polyphosphate 5-phosphatase OCRL-1; oculocerebrorenal syndrome of Lowe; phosphatidylinositol 3,4,5-triphosphate 5-phosphatase

NP_796189.2

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_011249310.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_017174013.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_036017876.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_036017877.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_036017878.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_036017879.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_177215.3 → NP_796189.2 inositol polyphosphate 5-phosphatase OCRL

See identical proteins and their annotated locations for NP_796189.2

Status: VALIDATED

Source sequence(s)

BC068146

Consensus CDS

CCDS40957.1

UniProtKB/Swiss-Prot

Q6NVF0, Q8BXC9

Related

ENSMUSP00000001202.9, ENSMUST00000001202.15

Conserved Domains (3) summary

cd09093
Location:239 → 532

INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins

cd04380
Location:667 → 895

RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...

cd13382
Location:11 → 115

PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

47001289..47055305

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011251008.4 → XP_011249310.1 inositol polyphosphate 5-phosphatase OCRL isoform X1

Conserved Domains (3) summary

cd09093
Location:238 → 531

INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins

cd04380
Location:666 → 894

RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...

cd13382
Location:11 → 114

PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
XM_017318524.3 → XP_017174013.1 inositol polyphosphate 5-phosphatase OCRL isoform X3

Conserved Domains (3) summary

cd09093
Location:239 → 532

INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins

cd04380
Location:667 → 887

RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...

cd13382
Location:11 → 115

PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
XM_036161984.1 → XP_036017877.1 inositol polyphosphate 5-phosphatase OCRL isoform X4

Conserved Domains (3) summary

cd09093
Location:215 → 508

INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins

cd04380
Location:643 → 871

RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...

cl17171
Location:44 → 94

PH-like; Pleckstrin homology-like domain
XM_036161985.1 → XP_036017878.1 inositol polyphosphate 5-phosphatase OCRL isoform X5

Conserved Domains (2) summary

cd09093
Location:101 → 394

INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins

cd04380
Location:529 → 757

RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...
XM_036161983.1 → XP_036017876.1 inositol polyphosphate 5-phosphatase OCRL isoform X2

Conserved Domains (3) summary

cd09093
Location:235 → 528

INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins

cd04380
Location:663 → 891

RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...

cl17171
Location:64 → 114

PH-like; Pleckstrin homology-like domain
XM_036161986.1 → XP_036017879.1 inositol polyphosphate 5-phosphatase OCRL isoform X6

Conserved Domains (2) summary

cd09093
Location:9 → 300

INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins

cd04380
Location:435 → 663

RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...