Ocrl OCRL, inositol polyphosphate-5-phosphatase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ocrlprovided by RGD
Official Full Name: OCRL, inositol polyphosphate-5-phosphataseprovided by RGD
Primary source: RGD:1594526
See related: Ensembl:ENSRNOG00000003875 AllianceGenome:RGD:1594526
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: OCRL-1
Summary: Predicted to enable GTPase activator activity; phosphatase activity; and small GTPase binding activity. Predicted to be involved in cilium assembly; dephosphorylation; and regulation of GTPase activity. Predicted to act upstream of or within in utero embryonic development. Predicted to be located in several cellular components, including cytoplasmic vesicle; photoreceptor outer segment; and trans-Golgi network. Predicted to be active in cytoplasm and membrane. Human ortholog(s) of this gene implicated in Dent disease and oculocerebrorenal syndrome. Orthologous to human OCRL (OCRL inositol polyphosphate-5-phosphatase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Adrenal (RPKM 223.7), Brain (RPKM 85.1) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: Xq35

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (131955775..132018298)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (127089508..127140362)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (134742226..134793411)

Chromosome X - NC_086039.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

OCRL1 exists as two functional pools, one participating in clathrin-mediated trafficking events such as endocytosis and another that is much less or not involved in this process
Title: Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.

Submit: New GeneRIF Correction

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

AI010734 (e-PCR)
- UniSTS:250046

BF394020 (e-PCR)
- UniSTS:244671

DXWox29 (e-PCR)
- UniSTS:517858

Gene Ontology Provided by RGD

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	IEA Inferred from Electronic Annotation 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 inositol-polyphosphate 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	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction 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 biological_process	ND No biological Data available more info
involved_in cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within in utero embryonic development	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol dephosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within phosphatidylinositol dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	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
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_001101726.2

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_038955773.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_038955775.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_063136159.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_063136160.1

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_001108256.2 → NP_001101726.2 inositol polyphosphate 5-phosphatase OCRL

Status: VALIDATED

Source sequence(s)

JAXUCZ010000021

UniProtKB/Swiss-Prot

D3ZGS3

Related

ENSRNOP00000005267.7, ENSRNOT00000005267.8

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 → 115

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

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086039.1 Reference GRCr8

Range

131955775..132018298

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063280090.1 → XP_063136160.1 inositol polyphosphate 5-phosphatase OCRL isoform X4
XM_063280089.1 → XP_063136159.1 inositol polyphosphate 5-phosphatase OCRL isoform X2

UniProtKB/TrEMBL

A6JMP0
XM_039099845.2 → XP_038955773.1 inositol polyphosphate 5-phosphatase OCRL isoform X1

UniProtKB/Swiss-Prot

D3ZGS3

Related

ENSRNOP00000072408.2

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 → 886

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_039099847.1 → XP_038955775.1 inositol polyphosphate 5-phosphatase OCRL isoform X3

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

cd13382
Location:11 → 115

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

cl02570
Location:666 → 701

RhoGAP; GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when bound to ...