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Aliases for OCRL Gene

Aliases for OCRL Gene

  • Oculocerebrorenal Syndrome Of Lowe 2 3 5
  • Lowe Oculocerebrorenal Syndrome Protein 3 4
  • INPP5F 3 4
  • OCRL1 3 4
  • Phosphatidylinositol Polyphosphate 5-Phosphatase 3
  • EC 3.1.3.36 4
  • OCRL-1 3
  • NPHL2 3
  • LOCR 3

External Ids for OCRL Gene

Previous GeneCards Identifiers for OCRL Gene

  • GC0XP123319
  • GC0XP125520
  • GC0XP126619
  • GC0XP127379
  • GC0XP128399
  • GC0XP128501
  • GC0XP128673
  • GC0XP118081

Summaries for OCRL Gene

Entrez Gene Summary for OCRL Gene

  • This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for OCRL Gene

OCRL (Oculocerebrorenal Syndrome Of Lowe) is a Protein Coding gene. Diseases associated with OCRL include lowe syndrome and dent disease 2. Among its related pathways are Inositol phosphate metabolism (KEGG) and Metabolism. GO annotations related to this gene include GTPase activator activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. An important paralog of this gene is INPP5J.

UniProtKB/Swiss-Prot for OCRL Gene

  • 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).

Gene Wiki entry for OCRL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OCRL Gene

Genomics for OCRL Gene

Regulatory Elements for OCRL Gene

Enhancers for OCRL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OCRL on UCSC Golden Path with GeneCards custom track

Genomic Location for OCRL Gene

Chromosome:
X
Start:
129,532,740 bp from pter
End:
129,592,561 bp from pter
Size:
59,822 bases
Orientation:
Plus strand

Genomic View for OCRL Gene

Genes around OCRL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OCRL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OCRL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OCRL Gene

Proteins for OCRL Gene

  • Protein details for OCRL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01968-OCRL_HUMAN
    Recommended name:
    Inositol polyphosphate 5-phosphatase OCRL-1
    Protein Accession:
    Q01968
    Secondary Accessions:
    • A6NKI1
    • A8KAP2
    • B7ZLX2
    • O60800
    • Q15684
    • Q15774
    • Q4VY09
    • Q4VY10
    • Q5JQF1
    • Q5JQF2
    • Q9UJG5
    • Q9UMA5

    Protein attributes for OCRL Gene

    Size:
    901 amino acids
    Molecular mass:
    104205 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAA59964.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OCRL Gene

    Alternative splice isoforms for OCRL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OCRL Gene

Proteomics data for OCRL Gene at MOPED

Post-translational modifications for OCRL Gene

  • Ubiquitination at Lys 127, Lys 449, Lys 461, Lys 578, and Lys 701
  • Modification sites at PhosphoSitePlus

Other Protein References for OCRL Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for OCRL (OCRL)

No data available for DME Specific Peptides for OCRL Gene

Domains & Families for OCRL Gene

Gene Families for OCRL Gene

Graphical View of Domain Structure for InterPro Entry

Q01968

UniProtKB/Swiss-Prot:

OCRL_HUMAN :
  • 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.
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
Domain:
  • 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.
  • Contains 1 PH domain.
  • Contains 1 Rho-GAP domain.
Family:
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
genes like me logo Genes that share domains with OCRL: view

Function for OCRL Gene

Molecular function for OCRL Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
UniProtKB/Swiss-Prot Function:
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).

Enzyme Numbers (IUBMB) for OCRL Gene

Gene Ontology (GO) - Molecular Function for OCRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA,TAS --
genes like me logo Genes that share ontologies with OCRL: view
genes like me logo Genes that share phenotypes with OCRL: view

Human Phenotype Ontology for OCRL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OCRL Gene

MGI Knock Outs for OCRL:

Animal Model Products

miRNA for OCRL Gene

miRTarBase miRNAs that target OCRL

No data available for Transcription Factor Targets and HOMER Transcription for OCRL Gene

Localization for OCRL Gene

Subcellular locations from UniProtKB/Swiss-Prot for OCRL Gene

Cytoplasmic vesicle, phagosome membrane. Early endosome membrane. Membrane, clathrin-coated pit. Cell projection, cilium, photoreceptor outer segment. Cell projection, cilium. Cytoplasmic vesicle. Endosome. Golgi apparatus, trans-Golgi network. Note=Also found on macropinosomes. {ECO:0000269 PubMed:25869668}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OCRL Gene COMPARTMENTS Subcellular localization image for OCRL gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
golgi apparatus 5
nucleus 5
plasma membrane 5
cytoskeleton 2
vacuole 2
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for OCRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12915445
GO:0005769 early endosome IDA 21233288
GO:0005795 Golgi stack TAS 1840503
GO:0005829 cytosol TAS --
GO:0030670 phagocytic vesicle membrane IEA --
genes like me logo Genes that share ontologies with OCRL: view

Pathways & Interactions for OCRL Gene

genes like me logo Genes that share pathways with OCRL: view

Gene Ontology (GO) - Biological Process for OCRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0007165 signal transduction IEA --
GO:0043647 inositol phosphate metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with OCRL: view

No data available for SIGNOR curated interactions for OCRL Gene

Drugs & Compounds for OCRL Gene

(4) Drugs for OCRL Gene - From: PharmGKB, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tenofovir Approved, Investigational Pharma HIV reverse transcriptase inhibitor 701
Hemostatics Pharma 1277

(11) Additional Compounds for OCRL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with OCRL: view

Transcripts for OCRL Gene

Unigene Clusters for OCRL Gene

Oculocerebrorenal syndrome of Lowe:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OCRL Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: - - -
SP3: - - -
SP4: - -
SP5:

ExUns: 24 ^ 25 ^ 26a · 26b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for OCRL Gene

GeneLoc Exon Structure for
OCRL
ECgene alternative splicing isoforms for
OCRL

Expression for OCRL Gene

mRNA expression in normal human tissues for OCRL Gene

Protein differential expression in normal tissues from HIPED for OCRL Gene

This gene is overexpressed in Pancreatic juice (22.4) and Testis (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for OCRL Gene



SOURCE GeneReport for Unigene cluster for OCRL Gene Hs.126357

mRNA Expression by UniProt/SwissProt for OCRL Gene

Q01968-OCRL_HUMAN
Tissue specificity: Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.
genes like me logo Genes that share expression patterns with OCRL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for OCRL Gene

Orthologs for OCRL Gene

This gene was present in the common ancestor of animals.

Orthologs for OCRL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OCRL 35
  • 92.53 (n)
  • 94.04 (a)
OCRL 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OCRL 35
  • 92.07 (n)
  • 94.22 (a)
OCRL 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ocrl 35
  • 88.78 (n)
  • 91.56 (a)
Ocrl 16
Ocrl 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OCRL 35
  • 99.36 (n)
  • 98.87 (a)
OCRL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ocrl 35
  • 90.43 (n)
  • 93.99 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia OCRL 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves OCRL 35
  • 74.55 (n)
  • 79.26 (a)
OCRL 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OCRL 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ocrl 35
  • 70.74 (n)
  • 74.64 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5376 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15136 35
LOC100329312 35
  • 64.33 (n)
  • 64.67 (a)
ocrl 36
  • 59 (a)
OneToMany
ocrl 36
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta EG:86E4.5 37
  • 33 (a)
Ocrl 35
  • 48.12 (n)
  • 36.99 (a)
Ocrl 36
  • 31 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010556 35
  • 47.24 (n)
  • 37.95 (a)
worm
(Caenorhabditis elegans)
Secernentea C16C2.3 37
  • 30 (a)
ocrl-1 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
Species with no ortholog for OCRL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OCRL Gene

ENSEMBL:
Gene Tree for OCRL (if available)
TreeFam:
Gene Tree for OCRL (if available)

Paralogs for OCRL Gene

Paralogs for OCRL Gene

(1) SIMAP similar genes for OCRL Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with OCRL: view

Variants for OCRL Gene

Sequence variations from dbSNP and Humsavar for OCRL Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_010169 Lowe oculocerebrorenal syndrome (OCRL)
rs137853854 - 129,562,612(+) AGGTG(A/G)GGTAG reference, missense
rs137853834 Lowe oculocerebrorenal syndrome (OCRL) 129,562,657(+) CATTG(G/T)CAATT reference, missense
rs137853848 Lowe oculocerebrorenal syndrome (OCRL) 129,562,665(+) ATTCC(C/T)ATCTG reference, missense
rs137853855 Lowe oculocerebrorenal syndrome (OCRL) 129,565,789(+) GTTGG(A/G)AGATT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for OCRL Gene

Variant ID Type Subtype PubMed ID
dgv2474e1 CNV Complex 17122850
dgv2475e1 CNV Complex 17122850
nsv7086 CNV Insertion 18451855
nsv508800 CNV Insertion 20534489

Variation tolerance for OCRL Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OCRL Gene

HapMap Linkage Disequilibrium report
OCRL
Human Gene Mutation Database (HGMD)
OCRL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OCRL Gene

Disorders for OCRL Gene

MalaCards: The human disease database

(13) MalaCards diseases for OCRL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lowe syndrome
  • oculocerebrorenal syndrome
dent disease 2
  • ocrl-related dent disease
dent disease
  • dent disease 2
oculocerebrorenal syndrome
  • lowe syndrome
fanconi syndrome
  • fanconi-bickel syndrome
- elite association - COSMIC cancer census association via MalaCards
Search OCRL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OCRL_HUMAN
  • Dent disease 2 (DD2) [MIM:300555]: A 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. {ECO:0000269 PubMed:15627218, ECO:0000269 PubMed:17384968, ECO:0000269 PubMed:21031565}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]: X-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. {ECO:0000269 PubMed:10767176, ECO:0000269 PubMed:10923037, ECO:0000269 PubMed:19168822, ECO:0000269 PubMed:20133602, ECO:0000269 PubMed:21031565, ECO:0000269 PubMed:21233288, ECO:0000269 PubMed:9199559, ECO:0000269 PubMed:9632163, ECO:0000269 PubMed:9682219, ECO:0000269 PubMed:9788721}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OCRL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OCRL
genes like me logo Genes that share disorders with OCRL: view

No data available for Genatlas for OCRL Gene

Publications for OCRL Gene

  1. The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5- bisphosphate 5-phosphatase. (PMID: 7761412) Zhang X. … Majerus P.W. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23 67
  2. OCRL1 function in renal epithelial membrane traffic. (PMID: 19940034) Cui S. … Weisz O.A. (Am. J. Physiol. Renal Physiol. 2010) 3 23
  3. Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene. (PMID: 20043897) Coutton C. … Lunardi J. (Clin. Biochem. 2010) 3 23
  4. Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1. (PMID: 19172411) Suchy S.F. … Nussbaum R.L. (J. Inherit. Metab. Dis. 2009) 3 23
  5. Differential clathrin binding and subcellular localization of OCRL1 splice isoforms. (PMID: 19211563) Choudhury R. … Lowe M. (J. Biol. Chem. 2009) 3 23

Products for OCRL Gene

Sources for OCRL Gene

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