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Protein

Inositol polyphosphate 5-phosphatase OCRL-1

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

Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate (PubMed:25869668, PubMed:7761412, PubMed:9430698). May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976).5 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_section">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>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

GO - Biological processi

<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

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BioCyci
MetaCyc:HS04546-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.1.3.36 2681

Reactome - a knowledgebase of biological pathways and processes

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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

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SignaLinki
Q01968

Chemistry databases

SwissLipids knowledge resource for lipid biology

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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_and_taxonomy_section">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 OCRL-1 (EC:3.1.3.36)
Alternative name(s):
Lowe oculocerebrorenal syndrome protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:OCRL
Synonyms:INPP5F, OCRL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000122126.15

Human Gene Nomenclature Database

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HGNCi
HGNC:8108 OCRL

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300535 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q01968

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Coated pit, Cytoplasmic vesicle, Endosome, Golgi apparatus, 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 mutations 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.
See also OMIM:309000
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_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 Publications1
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 mutations 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.
See also OMIM:300555
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_and_biotech_section">'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 mutation

Organism-specific databases

DisGeNET

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DisGeNETi
4952

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

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GeneReviewsi
OCRL

MalaCards human disease database

More...
MalaCardsi
OCRL
MIMi300555 phenotype
309000 phenotype

Open Targets

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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

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PharmGKBi
PA31896

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
OCRL

Domain mapping of disease mutations (DMDM)

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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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002097211 – 901Inositol polyphosphate 5-phosphatase OCRL-1Add BLAST901

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q01968

MaxQB - The MaxQuant DataBase

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MaxQBi
Q01968

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

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PaxDbi
Q01968

PeptideAtlas

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PeptideAtlasi
Q01968

PRoteomics IDEntifications database

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PRIDEi
Q01968

ProteomicsDB human proteome resource

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ProteomicsDBi
58022
58023 [Q01968-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q01968-2 [Q01968-2]

PTM databases

DEPOD human dephosphorylation database

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DEPODi
Q01968

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q01968

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

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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

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Bgeei
ENSG00000122126 Expressed in 203 organ(s), highest expression level in esophagogastric junction muscularis propria

CleanEx database of gene expression profiles

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CleanExi
HS_INPP5F

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q01968 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA012495

<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_section">'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_section">'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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111006, 54 interactors

Database of interacting proteins

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DIPi
DIP-45092N

Protein interaction database and analysis system

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IntActi
Q01968, 176 interactors

Molecular INTeraction database

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MINTi
Q01968

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360154

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q01968

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

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SMRi
Q01968

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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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_and_domains_section">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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0565 Eukaryota
COG5411 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157996

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000008071

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000070

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q01968

KEGG Orthology (KO)

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KOi
K01099

Identification of Orthologs from Complete Genome Data

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OMAi
PNLMARQ

Database of Orthologous Groups

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OrthoDBi
EOG091G02KE

Database for complete collections of gene phylogenies

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PhylomeDBi
Q01968

TreeFam database of animal gene trees

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TreeFami
TF317034

Family and domain databases

Conserved Domains Database

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CDDi
cd09093 INPP5c_INPP5B, 1 hit
cd13382 PH_OCRL1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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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

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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

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

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48350 SSF48350, 1 hit
SSF56219 SSF56219, 1 hit

PROSITE; a protein domain and family database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 'canonical' 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. Translation N-terminally shortened.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 Publications1
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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.126357

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_references_section">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]
UniGeneiHs.126357

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[»]
ProteinModelPortaliQ01968
SMRiQ01968
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111006, 54 interactors
DIPiDIP-45092N
IntActiQ01968, 176 interactors
MINTiQ01968
STRINGi9606.ENSP00000360154

Chemistry databases

SwissLipidsiSLP:000001182

PTM databases

DEPODiQ01968
iPTMnetiQ01968
PhosphoSitePlusiQ01968

Polymorphism and mutation databases

BioMutaiOCRL
DMDMi67477390

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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
EuPathDBiHostDB:ENSG00000122126.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OCRL
GeneReviewsiOCRL
HGNCiHGNC:8108 OCRL
HPAiHPA012495
MalaCardsiOCRL
MIMi300535 gene
300555 phenotype
309000 phenotype
neXtProtiNX_Q01968
OpenTargetsiENSG00000122126
Orphaneti93623 Dent disease type 2
534 Oculocerebrorenal syndrome of Lowe
PharmGKBiPA31896

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0565 Eukaryota
COG5411 LUCA
GeneTreeiENSGT00940000157996
HOGENOMiHOG000008071
HOVERGENiHBG000070
InParanoidiQ01968
KOiK01099
OMAiPNLMARQ
OrthoDBiEOG091G02KE
PhylomeDBiQ01968
TreeFamiTF317034

Enzyme and pathway databases

BioCyciMetaCyc:HS04546-MONOMER
BRENDAi3.1.3.36 2681
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

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

Protein Ontology

More...
PROi
PR:Q01968

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000122126 Expressed in 203 organ(s), highest expression level in esophagogastric junction muscularis propria
CleanExiHS_INPP5F
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...

<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_and_isoforms">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: December 5, 2018
This is version 202 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, Complete proteome, Reference proteome

Documents

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