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Aliases for OCRL Gene

Aliases for OCRL Gene

  • Oculocerebrorenal Syndrome Of Lowe 2 3
  • OCRL1 3 4 6
  • Lowe Oculocerebrorenal Syndrome Protein 3 4
  • INPP5F 3 4
  • NPHL2 3 6
  • LOCR 3 6
  • Phosphatidylinositol Polyphosphate 5-Phosphatase 3
  • Inositol Polyphosphate 5-Phosphatase OCRL-1 3
  • EC 3.1.3.36 4
  • OCRL-1 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 a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for OCRL Gene

OCRL (Oculocerebrorenal Syndrome Of Lowe) is a Protein Coding gene. Diseases associated with OCRL include dent disease 2 and lowe syndrome. Among its related pathways are Signaling by GPCR and Rho GTPase cycle. GO annotations related to this gene include Rac GTPase binding and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. An important paralog of this gene is SYNJ2.

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. 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.

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

Genomic Location for OCRL Gene

Start:
129,539,849 bp from pter
End:
129,592,561 bp from pter
Size:
52,713 bases
Orientation:
Plus strand

Genomic View for OCRL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    SequenceCaution:
    • Sequence=AAA59964.2; Type=Erroneous initiation; 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 Lys127, Lys449, Lys461, Lys578, and Lys701
  • Modification sites at PhosphoSitePlus

Other Protein References for OCRL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for OCRL Gene

Domains for OCRL Gene

Gene Families for OCRL Gene

Graphical View of Domain Structure for InterPro Entry

Q01968

UniProtKB/Swiss-Prot:

OCRL_HUMAN :
  • Q01968
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. 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.

Enzyme Numbers (IUBMB) for OCRL Gene

Gene Ontology (GO) - Molecular Function for OCRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA --
GO:0005096 GTPase activator activity IDA 12915445
GO:0005515 protein binding IPI 12915445
GO:0048365 Rac GTPase binding IPI 12915445
GO:0052745 inositol phosphate phosphatase activity NAS 1321346
genes like me logo Genes that share ontologies with OCRL: view
genes like me logo Genes that share phenotypes with OCRL: view

Animal Models for OCRL Gene

MGI Knock Outs for OCRL:

miRNA for OCRL Gene

No data available for Transcription Factor Targeting 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. Cytoplasmic vesicle. Endosome. Golgi apparatus, trans-Golgi network. Note=Also found on macropinosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OCRL Gene COMPARTMENTS Subcellular localization image for OCRL gene
Compartment Confidence
endosome 5
nucleus 5
plasma membrane 5
cytosol 4
golgi apparatus 4
cytoskeleton 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for OCRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IDA 22543976
GO:0005622 intracellular --
GO:0005634 nucleus IDA 12915445
GO:0005737 cytoplasm IDA 12915445
GO:0005769 early endosome IDA 21233288
genes like me logo Genes that share ontologies with OCRL: view

Pathways 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:0001701 in utero embryonic development IEA --
GO:0006629 lipid metabolic process NAS 1321346
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with OCRL: view

Compounds for OCRL Gene

(4) HMDB Compounds for OCRL Gene

Compound Synonyms Cas Number PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • 1-Phosphatidyl-1D-myo-inositol
Not Available
Hydrogen carbonate
  • Bicarbonate
71-52-3
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(8) Novoseek inferred chemical compound relationships for OCRL Gene

Compound -log(P) Hits PubMed IDs
inositol 69.9 8
inositol 1,3,4,5-tetrakisphosphate 68.8 1
phosphatidylinositol 57.8 9
pip2 46.6 1
chloride 31.5 2
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with OCRL: view

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia OCRL 35
  • 99.36 (n)
  • 98.87 (a)
OCRL 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia OCRL 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ocrl 35
  • 90.43 (n)
  • 93.99 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.5376 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ocrl 35
  • 70.74 (n)
  • 74.64 (a)
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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010556 35
  • 47.24 (n)
  • 37.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ocrl 35
  • 48.12 (n)
  • 36.99 (a)
Ocrl 36
  • 31 (a)
OneToMany
EG:86E4.5 37
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea ocrl-1 36
  • 30 (a)
OneToMany
C16C2.3 37
  • 30 (a)
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

Selected 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 MAF
rs10324 -- 129,591,944(+) ATAGA(C/T)ACTGG utr-variant-3-prime
rs15690 -- 129,590,649(+) TACTT(G/T)CTGTA utr-variant-3-prime
rs16288 -- 129,583,962(+) TGGCC(A/G)CTGTT intron-variant
rs16289 -- 129,584,502(+) CTGCC(A/G)GCTGT intron-variant
rs1065276 -- 129,592,478(+) AGTGG(C/G)ATTCT utr-variant-3-prime

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

Relevant External Links for OCRL Gene

HapMap Linkage Disequilibrium report
OCRL
Human Gene Mutation Database (HGMD)
OCRL
Locus Specific Mutation Databases (LSDB)
OCRL

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

Disorders for OCRL Gene

(2) OMIM Diseases for OCRL Gene (300535)

UniProtKB/Swiss-Prot

OCRL_HUMAN
  • 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.
  • 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.

(8) Novoseek inferred disease relationships for OCRL Gene

Disease -log(P) Hits PubMed IDs
lowe syndrome 98.9 45
dent disease 92.4 25
congenital cataract 89.8 2
mental retardation 72.1 3
eye abnormalities 69.5 1

Relevant External Links for OCRL

GeneTests
OCRL
GeneReviews
OCRL
genes like me logo Genes that share disorders with OCRL: view

Publications for OCRL Gene

  1. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (PMID: 8504307) Leahey A.-M. … Nussbaum R.L. (Hum. Mol. Genet. 1993) 3 4 23
  2. 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
  3. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. (PMID: 9048911) Nussbaum R.L. … Chinault A.C. (Hum. Genet. 1997) 3 4 23
  4. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (PMID: 9199559) Lin T. … Nussbaum R.L. (Am. J. Hum. Genet. 1997) 3 4 23
  5. Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. (PMID: 9632163) Kawano T. … Matsuda I. (Am. J. Med. Genet. 1998) 3 4 23

Products for OCRL Gene

  • Addgene plasmids for OCRL

Sources for OCRL Gene

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