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UniProtKB - Q01968 (OCRL_HUMAN)

Entry version 217 (10 Feb 2021)
Sequence version 3 (07 Jun 2005)
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Protein

Inositol polyphosphate 5-phosphatase OCRL

Gene

OCRL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:7761412, PubMed:15474001, PubMed:9430698, PubMed:10764818). Able also to hydrolyzes the 4-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:7761412, PubMed:25869668). Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085). Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976). Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788).9 Publications

Caution

It is uncertain whether Met-1, Met-18 or Met-20 is the initiator.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=30 µM for Ins(1,3,4,5)P41 Publication
  2. KM=139 µM for PtdIns(3,4,5)P31 Publication
  3. KM=23 µM for PtdIns(4,5)P21 Publication
  4. KM=70 µM for Ins(1,4,5)P31 Publication
  1. Vmax=1.8 µmol/min/mg enzyme with Ins(1,3,4,5)P4 as substrate1 Publication
  2. Vmax=8 µmol/min/mg enzyme with Ins(1,4,5)P3 as substrate1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processCilium biogenesis/degradation

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS04546-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.1.3.36, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q01968

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1660499, Synthesis of PIPs at the plasma membrane
R-HSA-1660514, Synthesis of PIPs at the Golgi membrane
R-HSA-1855183, Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1855204, Synthesis of IP3 and IP4 in the cytosol
R-HSA-194840, Rho GTPase cycle
R-HSA-432722, Golgi Associated Vesicle Biogenesis
R-HSA-8856828, Clathrin-mediated endocytosis

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q01968

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001182

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Inositol polyphosphate 5-phosphatase OCRLCurated (EC:3.1.3.363 Publications, EC:3.1.3.562 Publications)
Alternative name(s):
Inositol polyphosphate 5-phosphatase OCRL-1
Short name:
OCRL-11 Publication
Lowe oculocerebrorenal syndrome protein
Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase (EC:3.1.3.862 Publications)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OCRLImported
Synonyms:OCRL11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8108, OCRL

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300535, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q01968

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000122126.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Coated pit, Cytoplasmic vesicle, Endosome, Golgi apparatus, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Lowe oculocerebrorenal syndrome (OCRL)10 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionX-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064773242F → S in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853828EnsemblClinVar.1
Natural variantiVAR_064774274I → T in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853829EnsemblClinVar.1
Natural variantiVAR_064775277Q → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853830EnsemblClinVar.1
Natural variantiVAR_022698318R → C in DD2 and OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853263EnsemblClinVar.1
Natural variantiVAR_064776337R → C in OCRL; associated with I-361. 1 PublicationCorresponds to variant dbSNP:rs137853831EnsemblClinVar.1
Natural variantiVAR_010169337R → P in OCRL. 1
Natural variantiVAR_010170357G → E in OCRL; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137853854EnsemblClinVar.1
Natural variantiVAR_064778361R → I in OCRL; associated with C-337. 1 PublicationCorresponds to variant dbSNP:rs137853832EnsemblClinVar.1
Natural variantiVAR_010171367Missing in OCRL. 1 Publication1
Natural variantiVAR_010172372V → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853834EnsemblClinVar.1
Natural variantiVAR_064779373N → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853835EnsemblClinVar.1
Natural variantiVAR_064780374S → F in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853836EnsemblClinVar.1
Natural variantiVAR_010173375H → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853848EnsemblClinVar.1
Natural variantiVAR_064781414H → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853837EnsemblClinVar.1
Natural variantiVAR_010174421G → E in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853855EnsemblClinVar.1
Natural variantiVAR_010175424N → D in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853856EnsemblClinVar.1
Natural variantiVAR_010176451D → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853850EnsemblClinVar.1
Natural variantiVAR_064782451D → N in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853838EnsemblClinVar.1
Natural variantiVAR_064783457R → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853839EnsemblClinVar.1
Natural variantiVAR_010177463F → S in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853851EnsemblClinVar.1
Natural variantiVAR_064784468E → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853841EnsemblClinVar.1
Natural variantiVAR_064785468E → K in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853840EnsemblClinVar.1
Natural variantiVAR_023957478 – 479Missing in OCRL. 2
Natural variantiVAR_064787495P → L in OCRL. 1 Publication1
Natural variantiVAR_010178498C → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853857EnsemblClinVar.1
Natural variantiVAR_064788499D → H in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853842EnsemblClinVar.1
Natural variantiVAR_010179500R → G in OCRL. Corresponds to variant dbSNP:rs398123287EnsemblClinVar.1
Natural variantiVAR_010180500R → Q in OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853260EnsemblClinVar.1
Natural variantiVAR_064789503W → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853843EnsemblClinVar.1
Natural variantiVAR_010181508V → D in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853849EnsemblClinVar.1
Natural variantiVAR_010182513Y → C in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853847EnsemblClinVar.1
Natural variantiVAR_010183522S → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853853EnsemblClinVar.1
Natural variantiVAR_010184524H → Q in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853261EnsemblClinVar.1
Natural variantiVAR_010185524H → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853852EnsemblClinVar.1
Natural variantiVAR_023958526P → L in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853858EnsemblClinVar.1
Natural variantiVAR_010187533I → S in OCRL. 1
Natural variantiVAR_064790591N → K in OCRL. 2 PublicationsCorresponds to variant dbSNP:rs137853844EnsemblClinVar.1
Natural variantiVAR_064791742Missing in OCRL. 1 Publication1
Natural variantiVAR_010188768I → N in OCRL; uncertain pathological significance; abolishes FAM109A-, FAM109B- and APPL1-binding. 2 Publications1
Natural variantiVAR_010189797A → P in OCRL; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs935956958EnsemblClinVar.1
Natural variantiVAR_064793801P → L in OCRL. 1 Publication1
Natural variantiVAR_064794891L → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853845EnsemblClinVar.1
Dent disease 2 (DD2)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022698318R → C in DD2 and OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853263EnsemblClinVar.1
Natural variantiVAR_064777354N → H in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853833EnsemblClinVar.1
Natural variantiVAR_022699479Y → C in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853262EnsemblClinVar.1
Natural variantiVAR_064786493R → W in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853846EnsemblClinVar.1
Natural variantiVAR_064792799P → L in DD2. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi422D → A: Does not affect interaction with RAB8A. 1 Publication1
Mutagenesisi499D → A: Does not affect interaction with RAB8A. 1 Publication1
Mutagenesisi668F → V: Does not interact with RAB8A. Does not localize to cilia. 1 Publication1

Keywords - Diseasei

Cataract, Ciliopathy, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4952

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		OCRL

MalaCards human disease database

More...MalaCardsi		OCRL
MIMi300555, phenotype
309000, phenotype

Open Targets

More...OpenTargetsi		ENSG00000122126

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		93623, Dent disease type 2
534, Oculocerebrorenal syndrome of Lowe

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31896

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q01968, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		OCRL

Domain mapping of disease mutations (DMDM)

More...DMDMi		67477390

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002097211 – 901Inositol polyphosphate 5-phosphatase OCRLAdd BLAST901

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q01968

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q01968

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q01968

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q01968

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q01968

PeptideAtlas

More...PeptideAtlasi		Q01968

PRoteomics IDEntifications database

More...PRIDEi		Q01968

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58022 [Q01968-1]
58023 [Q01968-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q01968-2 [Q01968-2]

PTM databases

DEPOD human dephosphorylation database

More...DEPODi		OCRL

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q01968

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q01968

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q01968

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000122126, Expressed in esophagogastric junction muscularis propria and 214 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q01968, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q01968, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000122126, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with APPL1, FAM109A/SES1 and FAM109B/SES2; APPL1-binding and FAM109A-binding are mutually exclusive.

Interacts with clathrin heavy chain.

Interacts with several Rab GTPases, at least RAB1B, RAB5A, RAB6A, RAB8A and RAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and stimulating the phosphatase activity. Interaction with RAB8A modulates OCRL recruitment to cilia.

Interacts with INPP5F (PubMed:25869668).

8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111006, 67 interactors

Database of interacting proteins

More...DIPi		DIP-45092N

Protein interaction database and analysis system

More...IntActi		Q01968, 202 interactors

Molecular INTeraction database

More...MINTi		Q01968

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360154

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q01968, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1901
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q01968

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q01968

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 119PHAdd BLAST119
Domaini721 – 901Rho-GAPPROSITE-ProRule annotationAdd BLAST181

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni237 – 5635-phosphataseAdd BLAST327
Regioni564 – 678ASHAdd BLAST115

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi73 – 77Clathrin box 15
Motifi702 – 706Clathrin box 25

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0565, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157996

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_006779_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q01968

Identification of Orthologs from Complete Genome Data

More...OMAi		LECAHDS

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q01968

TreeFam database of animal gene trees

More...TreeFami		TF317034

Family and domain databases

Conserved Domains Database

More...CDDi		cd09093, INPP5c_INPP5B, 1 hit
cd13382, PH_OCRL1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.555.10, 1 hit
2.60.40.10, 1 hit
3.60.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR036691, Endo/exonu/phosph_ase_sf
IPR005135, Endo/exonuclease/phosphatase
IPR013783, Ig-like_fold
IPR000300, IPPc
IPR037793, OCRL1/INPP5B_INPP5c
IPR037787, OCRL1_PH
IPR031995, OCRL_clath-bd
IPR008936, Rho_GTPase_activation_prot
IPR000198, RhoGAP_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03372, Exo_endo_phos, 1 hit
PF16726, OCRL_clath_bd, 1 hit
PF00620, RhoGAP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00128, IPPc, 1 hit
SM00324, RhoGAP, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48350, SSF48350, 1 hit
SSF56219, SSF56219, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50238, RHOGAP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q01968-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEPPLPVGAQ PLATVEGMEM KGPLREPCAL TLAQRNGQYE LIIQLHEKEQ 
        60         70         80         90        100
HVQDIIPINS HFRCVQEAEE TLLIDIASNS GCKIRVQGDW IRERRFEIPD 
       110        120        130        140        150
EEHCLKFLSA VLAAQKAQSQ LLVPEQKDSS SWYQKLDTKD KPSVFSGLLG 
       160        170        180        190        200
FEDNFSSMNL DKKINSQNQP TGIHREPPPP PFSVNKMLPR EKEASNKEQP 
       210        220        230        240        250
KVTNTMRKLF VPNTQSGQRE GLIKHILAKR EKEYVNIQTF RFFVGTWNVN 
       260        270        280        290        300
GQSPDSGLEP WLNCDPNPPD IYCIGFQELD LSTEAFFYFE SVKEQEWSMA 
       310        320        330        340        350
VERGLHSKAK YKKVQLVRLV GMMLLIFARK DQCRYIRDIA TETVGTGIMG 
       360        370        380        390        400
KMGNKGGVAV RFVFHNTTFC IVNSHLAAHV EDFERRNQDY KDICARMSFV 
       410        420        430        440        450
VPNQTLPQLN IMKHEVVIWL GDLNYRLCMP DANEVKSLIN KKDLQRLLKF 
       460        470        480        490        500
DQLNIQRTQK KAFVDFNEGE IKFIPTYKYD SKTDRWDSSG KCRVPAWCDR 
       510        520        530        540        550
ILWRGTNVNQ LNYRSHMELK TSDHKPVSAL FHIGVKVVDE RRYRKVFEDS 
       560        570        580        590        600
VRIMDRMEND FLPSLELSRR EFVFENVKFR QLQKEKFQIS NNGQVPCHFS 
       610        620        630        640        650
FIPKLNDSQY CKPWLRAEPF EGYLEPNETV DISLDVYVSK DSVTILNSGE 
       660        670        680        690        700
DKIEDILVLH LDRGKDYFLT ISGNYLPSCF GTSLEALCRM KRPIREVPVT 
       710        720        730        740        750
KLIDLEEDSF LEKEKSLLQM VPLDEGASER PLQVPKEIWL LVDHLFKYAC 
       760        770        780        790        800
HQEDLFQTPG MQEELQQIID CLDTSIPETI PGSNHSVAEA LLIFLEALPE 
       810        820        830        840        850
PVICYELYQR CLDSAYDPRI CRQVISQLPR CHRNVFRYLM AFLRELLKFS 
       860        870        880        890        900
EYNSVNANMI ATLFTSLLLR PPPNLMARQT PSDRQRAIQF LLGFLLGSEE 

D
Length:901
Mass (Da):104,205
Last modified:June 7, 2005 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i476BFCCC3655C1FE
GO
Isoform B (identifier: Q01968-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     707-714: Missing.

Show »
Length:893
Mass (Da):103,227
Checksum:iE61E59C6AD0AC650
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YG38A0A2R8YG38_HUMAN
Inositol polyphosphate 5-phosphatas...
OCRL
466Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YCN4A0A2R8YCN4_HUMAN
Inositol polyphosphate 5-phosphatas...
OCRL
286Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YF88A0A2R8YF88_HUMAN
Inositol polyphosphate 5-phosphatas...
OCRL
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA59964 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti180P → L in BAF85796 (PubMed:14702039).Curated1
Sequence conflicti321G → E in AAI44107 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064773242F → S in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853828EnsemblClinVar.1
Natural variantiVAR_064774274I → T in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853829EnsemblClinVar.1
Natural variantiVAR_064775277Q → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853830EnsemblClinVar.1
Natural variantiVAR_022698318R → C in DD2 and OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853263EnsemblClinVar.1
Natural variantiVAR_064776337R → C in OCRL; associated with I-361. 1 PublicationCorresponds to variant dbSNP:rs137853831EnsemblClinVar.1
Natural variantiVAR_010169337R → P in OCRL. 1
Natural variantiVAR_064777354N → H in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853833EnsemblClinVar.1
Natural variantiVAR_010170357G → E in OCRL; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137853854EnsemblClinVar.1
Natural variantiVAR_064778361R → I in OCRL; associated with C-337. 1 PublicationCorresponds to variant dbSNP:rs137853832EnsemblClinVar.1
Natural variantiVAR_010171367Missing in OCRL. 1 Publication1
Natural variantiVAR_010172372V → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853834EnsemblClinVar.1
Natural variantiVAR_064779373N → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853835EnsemblClinVar.1
Natural variantiVAR_064780374S → F in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853836EnsemblClinVar.1
Natural variantiVAR_010173375H → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853848EnsemblClinVar.1
Natural variantiVAR_064781414H → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853837EnsemblClinVar.1
Natural variantiVAR_010174421G → E in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853855EnsemblClinVar.1
Natural variantiVAR_010175424N → D in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853856EnsemblClinVar.1
Natural variantiVAR_010176451D → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853850EnsemblClinVar.1
Natural variantiVAR_064782451D → N in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853838EnsemblClinVar.1
Natural variantiVAR_064783457R → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853839EnsemblClinVar.1
Natural variantiVAR_010177463F → S in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853851EnsemblClinVar.1
Natural variantiVAR_064784468E → G in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853841EnsemblClinVar.1
Natural variantiVAR_064785468E → K in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853840EnsemblClinVar.1
Natural variantiVAR_023957478 – 479Missing in OCRL. 2
Natural variantiVAR_022699479Y → C in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853262EnsemblClinVar.1
Natural variantiVAR_064786493R → W in DD2. 1 PublicationCorresponds to variant dbSNP:rs137853846EnsemblClinVar.1
Natural variantiVAR_064787495P → L in OCRL. 1 Publication1
Natural variantiVAR_010178498C → Y in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853857EnsemblClinVar.1
Natural variantiVAR_064788499D → H in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853842EnsemblClinVar.1
Natural variantiVAR_010179500R → G in OCRL. Corresponds to variant dbSNP:rs398123287EnsemblClinVar.1
Natural variantiVAR_010180500R → Q in OCRL. 3 PublicationsCorresponds to variant dbSNP:rs137853260EnsemblClinVar.1
Natural variantiVAR_064789503W → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853843EnsemblClinVar.1
Natural variantiVAR_010181508V → D in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853849EnsemblClinVar.1
Natural variantiVAR_010182513Y → C in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853847EnsemblClinVar.1
Natural variantiVAR_010183522S → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853853EnsemblClinVar.1
Natural variantiVAR_010184524H → Q in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853261EnsemblClinVar.1
Natural variantiVAR_010185524H → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853852EnsemblClinVar.1
Natural variantiVAR_023958526P → L in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853858EnsemblClinVar.1
Natural variantiVAR_010187533I → S in OCRL. 1
Natural variantiVAR_064790591N → K in OCRL. 2 PublicationsCorresponds to variant dbSNP:rs137853844EnsemblClinVar.1
Natural variantiVAR_064791742Missing in OCRL. 1 Publication1
Natural variantiVAR_010188768I → N in OCRL; uncertain pathological significance; abolishes FAM109A-, FAM109B- and APPL1-binding. 2 Publications1
Natural variantiVAR_010189797A → P in OCRL; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs935956958EnsemblClinVar.1
Natural variantiVAR_064792799P → L in DD2. 1 Publication1
Natural variantiVAR_064793801P → L in OCRL. 1 Publication1
Natural variantiVAR_064794891L → R in OCRL. 1 PublicationCorresponds to variant dbSNP:rs137853845EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_002681707 – 714Missing in isoform B. 2 Publications8

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M88162 mRNA Translation: AAA59964.2 Different initiation.
U57627 mRNA Translation: AAB03839.2
AK293107 mRNA Translation: BAF85796.1
AL022162 Genomic DNA No translation available.
AL138745 Genomic DNA No translation available.
AL662877 Genomic DNA No translation available.
Z73496 Genomic DNA No translation available.
CH471107 Genomic DNA Translation: EAX11831.1
CH471107 Genomic DNA Translation: EAX11832.1
BC130612 mRNA Translation: AAI30613.1
BC144106 mRNA Translation: AAI44107.1
S62085 mRNA Translation: AAB26926.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS35393.1 [Q01968-1]
CCDS35394.1 [Q01968-2]

Protein sequence database of the Protein Information Resource

More...PIRi		S29069

NCBI Reference Sequences

More...RefSeqi		NP_000267.2, NM_000276.3 [Q01968-1]
NP_001578.2, NM_001587.3 [Q01968-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000357121; ENSP00000349635; ENSG00000122126 [Q01968-2]
ENST00000371113; ENSP00000360154; ENSG00000122126 [Q01968-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4952

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4952

UCSC genome browser

More...UCSCi		uc004euq.4, human [Q01968-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Lowe Syndrome mutation database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M88162 mRNA Translation: AAA59964.2 Different initiation.
U57627 mRNA Translation: AAB03839.2
AK293107 mRNA Translation: BAF85796.1
AL022162 Genomic DNA No translation available.
AL138745 Genomic DNA No translation available.
AL662877 Genomic DNA No translation available.
Z73496 Genomic DNA No translation available.
CH471107 Genomic DNA Translation: EAX11831.1
CH471107 Genomic DNA Translation: EAX11832.1
BC130612 mRNA Translation: AAI30613.1
BC144106 mRNA Translation: AAI44107.1
S62085 mRNA Translation: AAB26926.1
CCDSiCCDS35393.1 [Q01968-1]
CCDS35394.1 [Q01968-2]
PIRiS29069
RefSeqiNP_000267.2, NM_000276.3 [Q01968-1]
NP_001578.2, NM_001587.3 [Q01968-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KIENMR-A1-119[»]
2QV2X-ray2.40A564-901[»]
3QBTX-ray2.00B/D/F/H540-678[»]
3QISX-ray2.30A536-901[»]
4CMNX-ray3.13A215-560[»]
SMRiQ01968
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111006, 67 interactors
DIPiDIP-45092N
IntActiQ01968, 202 interactors
MINTiQ01968
STRINGi9606.ENSP00000360154

Chemistry databases

SwissLipidsiSLP:000001182

PTM databases

DEPODiOCRL
iPTMnetiQ01968
MetOSiteiQ01968
PhosphoSitePlusiQ01968

Genetic variation databases

BioMutaiOCRL
DMDMi67477390

Proteomic databases

EPDiQ01968
jPOSTiQ01968
MassIVEiQ01968
MaxQBiQ01968
PaxDbiQ01968
PeptideAtlasiQ01968
PRIDEiQ01968
ProteomicsDBi58022 [Q01968-1]
58023 [Q01968-2]
TopDownProteomicsiQ01968-2 [Q01968-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q01968, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		509, 345 antibodies

Genome annotation databases

EnsembliENST00000357121; ENSP00000349635; ENSG00000122126 [Q01968-2]
ENST00000371113; ENSP00000360154; ENSG00000122126 [Q01968-1]
GeneIDi4952
KEGGihsa:4952
UCSCiuc004euq.4, human [Q01968-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4952
DisGeNETi4952

GeneCards: human genes, protein and diseases

More...GeneCardsi		OCRL
GeneReviewsiOCRL
HGNCiHGNC:8108, OCRL
HPAiENSG00000122126, Low tissue specificity
MalaCardsiOCRL
MIMi300535, gene
300555, phenotype
309000, phenotype
neXtProtiNX_Q01968
OpenTargetsiENSG00000122126
Orphaneti93623, Dent disease type 2
534, Oculocerebrorenal syndrome of Lowe
PharmGKBiPA31896
VEuPathDBiHostDB:ENSG00000122126.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0565, Eukaryota
GeneTreeiENSGT00940000157996
HOGENOMiCLU_006779_3_1_1
InParanoidiQ01968
OMAiLECAHDS
PhylomeDBiQ01968
TreeFamiTF317034

Enzyme and pathway databases

BioCyciMetaCyc:HS04546-MONOMER
BRENDAi3.1.3.36, 2681
PathwayCommonsiQ01968
ReactomeiR-HSA-1660499, Synthesis of PIPs at the plasma membrane
R-HSA-1660514, Synthesis of PIPs at the Golgi membrane
R-HSA-1855183, Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1855204, Synthesis of IP3 and IP4 in the cytosol
R-HSA-194840, Rho GTPase cycle
R-HSA-432722, Golgi Associated Vesicle Biogenesis
R-HSA-8856828, Clathrin-mediated endocytosis
SignaLinkiQ01968

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4952, 6 hits in 505 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		OCRL, human
EvolutionaryTraceiQ01968

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		OCRL

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4952
PharosiQ01968, Tbio

Protein Ontology

More...PROi		PR:Q01968
RNActiQ01968, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000122126, Expressed in esophagogastric junction muscularis propria and 214 other tissues
ExpressionAtlasiQ01968, baseline and differential
GenevisibleiQ01968, HS

Family and domain databases

CDDicd09093, INPP5c_INPP5B, 1 hit
cd13382, PH_OCRL1, 1 hit
Gene3Di1.10.555.10, 1 hit
2.60.40.10, 1 hit
3.60.10.10, 1 hit
InterProiView protein in InterPro
IPR036691, Endo/exonu/phosph_ase_sf
IPR005135, Endo/exonuclease/phosphatase
IPR013783, Ig-like_fold
IPR000300, IPPc
IPR037793, OCRL1/INPP5B_INPP5c
IPR037787, OCRL1_PH
IPR031995, OCRL_clath-bd
IPR008936, Rho_GTPase_activation_prot
IPR000198, RhoGAP_dom
PfamiView protein in Pfam
PF03372, Exo_endo_phos, 1 hit
PF16726, OCRL_clath_bd, 1 hit
PF00620, RhoGAP, 1 hit
SMARTiView protein in SMART
SM00128, IPPc, 1 hit
SM00324, RhoGAP, 1 hit
SUPFAMiSSF48350, SSF48350, 1 hit
SSF56219, SSF56219, 1 hit
PROSITEiView protein in PROSITE
PS50238, RHOGAP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOCRL_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q01968
Secondary accession number(s): A6NKI1
, A8KAP2, B7ZLX2, O60800, Q15684, Q15774, Q4VY09, Q4VY10, Q5JQF1, Q5JQF2, Q9UJG5, Q9UMA5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: June 7, 2005
Last modified: February 10, 2021
This is version 217 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  6. Human entries with genetic variants
    List of human entries with genetic variants
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