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OCRL (oculocerebrorenal syndrome of Lowe)

Identity

Other namesINPP5F
LOCR
NPHL2
OCRL-1
OCRL1
HGNC (Hugo) OCRL
LocusID (NCBI) 4952
Location Xq25
Location_base_pair Starts at 128674252 and ends at 128726530 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)OCRL   8108
Cards
Entrez_Gene (NCBI)OCRL  4952  oculocerebrorenal syndrome of Lowe
GeneCards (Weizmann)OCRL
Ensembl (Hinxton)ENSG00000122126 [Gene_View]  chrX:128674252-128726530 [Contig_View]  OCRL [Vega]
ICGC DataPortalENSG00000122126
AceView (NCBI)OCRL
Genatlas (Paris)OCRL
WikiGenes4952
SOURCE (Princeton)NM_000276 NM_001587
Genomic and cartography
GoldenPath (UCSC)OCRL  -  Xq25   chrX:128674252-128726530 +  Xq25   [Description]    (hg19-Feb_2009)
EnsemblOCRL - Xq25 [CytoView]
Mapping of homologs : NCBIOCRL [Mapview]
OMIM300535   300555   309000   
Gene and transcription
Genbank (Entrez)AK226116 AK293107 BC018003 BC025253 BC094726
RefSeq transcript (Entrez)NM_000276 NM_001587
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_008638 NT_011786 NW_001842398 NW_004929446
Consensus coding sequences : CCDS (NCBI)OCRL
Cluster EST : UnigeneHs.126357 [ NCBI ]
CGAP (NCI)Hs.126357
Alternative Splicing : Fast-db (Paris)GSHG0031803
Alternative Splicing GalleryENSG00000122126
Gene ExpressionOCRL [ NCBI-GEO ]     OCRL [ SEEK ]   OCRL [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01968 (Uniprot)
NextProtQ01968  [Medical]
With graphics : InterProQ01968
Splice isoforms : SwissVarQ01968 (Swissvar)
Catalytic activity : Enzyme3.1.3.36 [ Enzyme-Expasy ]   3.1.3.363.1.3.36 [ IntEnz-EBI ]   3.1.3.36 [ BRENDA ]   3.1.3.36 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)RHOGAP (PS50238)   
Domains : Interpro (EBI)Endo/exonuclease/phosphatase    IPPc    Rho_GTPase_activation_prot    RhoGAP_dom   
Related proteins : CluSTrQ01968
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)    RhoGAP (PF00620)   
Domain families : Pfam (NCBI)pfam03372    pfam00620   
Domain families : Smart (EMBL)IPPc (SM00128)  RhoGAP (SM00324)  
DMDM Disease mutations4952
Blocks (Seattle)Q01968
PDB (SRS)2KIE    2QV2    3QBT    3QIS    4CMN   
PDB (PDBSum)2KIE    2QV2    3QBT    3QIS    4CMN   
PDB (IMB)2KIE    2QV2    3QBT    3QIS    4CMN   
PDB (RSDB)2KIE    2QV2    3QBT    3QIS    4CMN   
Human Protein AtlasENSG00000122126
Peptide AtlasQ01968
HPRD02395
IPIIPI00873093   IPI00480049   IPI00448812   IPI00816535   
Protein Interaction databases
DIP (DOE-UCLA)Q01968
IntAct (EBI)Q01968
FunCoupENSG00000122126
BioGRIDOCRL
IntegromeDBOCRL
STRING (EMBL)OCRL
Ontologies - Pathways
QuickGOQ01968
Ontology : AmiGOin utero embryonic development  photoreceptor outer segment  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  protein binding  nucleus  cytoplasm  early endosome  Golgi stack  Golgi-associated vesicle  trans-Golgi network  cytosol  plasma membrane  coated pit  lipid metabolic process  phospholipid metabolic process  phosphatidylinositol biosynthetic process  small GTPase mediated signal transduction  clathrin-coated vesicle  phagocytic vesicle membrane  Rac GTPase activator activity  early endosome membrane  regulation of Rac GTPase activity  positive regulation of Rac GTPase activity  cilium assembly  inositol phosphate metabolic process  small molecule metabolic process  phosphatidylinositol dephosphorylation  Rac GTPase binding  regulation of small GTPase mediated signal transduction  inositol phosphate phosphatase activity  extracellular vesicular exosome  
Ontology : EGO-EBIin utero embryonic development  photoreceptor outer segment  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  protein binding  nucleus  cytoplasm  early endosome  Golgi stack  Golgi-associated vesicle  trans-Golgi network  cytosol  plasma membrane  coated pit  lipid metabolic process  phospholipid metabolic process  phosphatidylinositol biosynthetic process  small GTPase mediated signal transduction  clathrin-coated vesicle  phagocytic vesicle membrane  Rac GTPase activator activity  early endosome membrane  regulation of Rac GTPase activity  positive regulation of Rac GTPase activity  cilium assembly  inositol phosphate metabolic process  small molecule metabolic process  phosphatidylinositol dephosphorylation  Rac GTPase binding  regulation of small GTPase mediated signal transduction  inositol phosphate phosphatase activity  extracellular vesicular exosome  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system   
Protein Interaction DatabaseOCRL
Wikipedia pathwaysOCRL
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)OCRL
SNP (GeneSNP Utah)OCRL
SNP : HGBaseOCRL
Genetic variants : HAPMAPOCRL
1000_GenomesOCRL 
ICGC programENSG00000122126 
CONAN: Copy Number AnalysisOCRL 
Somatic Mutations in Cancer : COSMICOCRL 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD at NCBI
DECIPHER (Syndromes)X:128674252-128726530
Mutations and Diseases : HGMDOCRL
OMIM300535    300555    309000   
MedgenOCRL
GENETestsOCRL
Disease Genetic AssociationOCRL
Huge Navigator OCRL [HugePedia]  OCRL [HugeCancerGEM]
Genomic VariantsOCRL  OCRL [DGVbeta]
Exome VariantOCRL
dbVarOCRL
ClinVarOCRL
snp3D : Map Gene to Disease4952
General knowledge
Homologs : HomoloGeneOCRL
Homology/Alignments : Family Browser (UCSC)OCRL
Phylogenetic Trees/Animal Genes : TreeFamOCRL
Chemical/Protein Interactions : CTD4952
Chemical/Pharm GKB GenePA31896
Clinical trialOCRL
Cancer Resource (Charite)ENSG00000122126
Other databases
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
CoreMineOCRL
GoPubMedOCRL
iHOPOCRL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:46:23 CET 2014

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