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OCRL (oculocerebrorenal syndrome of Lowe)

Identity

Alias_namesoculocerebrorenal syndrome of Lowe
Alias_symbol (synonym)OCRL1
HGNC (Hugo) OCRL
LocusID (NCBI) 4952
Atlas_Id 43386
Location Xq25  [Link to chromosome band 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
AliasesINPP5F; LOCR; NPHL2; OCRL-1; 
OCRL1
GeneCards (Weizmann)OCRL
Ensembl hg19 (Hinxton)ENSG00000122126 [Gene_View]  chrX:128674252-128726530 [Contig_View]  OCRL [Vega]
Ensembl hg38 (Hinxton)ENSG00000122126 [Gene_View]  chrX:128674252-128726530 [Contig_View]  OCRL [Vega]
ICGC DataPortalENSG00000122126
TCGA cBioPortalOCRL
AceView (NCBI)OCRL
Genatlas (Paris)OCRL
WikiGenes4952
SOURCE (Princeton)OCRL
Genetics Home Reference (NIH)OCRL
Genomic and cartography
GoldenPath hg19 (UCSC)OCRL  -     chrX:128674252-128726530 +  Xq25   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)OCRL  -     Xq25   [Description]    (hg38-Dec_2013)
EnsemblOCRL - Xq25 [CytoView hg19]  OCRL - Xq25 [CytoView hg38]
Mapping of homologs : NCBIOCRL [Mapview hg19]  OCRL [Mapview hg38]
OMIM300535   300555   309000   
Gene and transcription
Genbank (Entrez)AI829608 AK226116 AK293107 BC018003 BC025253
RefSeq transcript (Entrez)NM_000276 NM_001318784 NM_001587
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_008638 NT_011786 NW_004929446
Consensus coding sequences : CCDS (NCBI)OCRL
Cluster EST : UnigeneHs.126357 [ NCBI ]
CGAP (NCI)Hs.126357
Alternative Splicing GalleryENSG00000122126
Gene ExpressionOCRL [ NCBI-GEO ]   OCRL [ EBI - ARRAY_EXPRESS ]   OCRL [ SEEK ]   OCRL [ MEM ]
Gene Expression Viewer (FireBrowse)OCRL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4952
GTEX Portal (Tissue expression)OCRL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01968   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01968  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01968
Splice isoforms : SwissVarQ01968
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 ]   
PhosPhoSitePlusQ01968
Domaine pattern : Prosite (Expaxy)RHOGAP (PS50238)   
Domains : Interpro (EBI)Endo/exonuclease/phosphatase    IPPc    OCRL_clath-bd    Rho_GTPase_activation_prot    RhoGAP_dom   
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)    OCRL_clath_bd (PF16726)    RhoGAP (PF00620)   
Domain families : Pfam (NCBI)pfam03372    pfam16726    pfam00620   
Domain families : Smart (EMBL)IPPc (SM00128)  RhoGAP (SM00324)  
Conserved Domain (NCBI)OCRL
DMDM Disease mutations4952
Blocks (Seattle)OCRL
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   
Structural Biology KnowledgeBase2KIE    2QV2    3QBT    3QIS    4CMN   
SCOP (Structural Classification of Proteins)2KIE    2QV2    3QBT    3QIS    4CMN   
CATH (Classification of proteins structures)2KIE    2QV2    3QBT    3QIS    4CMN   
SuperfamilyQ01968
Human Protein AtlasENSG00000122126
Peptide AtlasQ01968
HPRD02395
IPIIPI00873093   IPI00480049   IPI00448812   IPI00816535   
Protein Interaction databases
DIP (DOE-UCLA)Q01968
IntAct (EBI)Q01968
FunCoupENSG00000122126
BioGRIDOCRL
STRING (EMBL)OCRL
ZODIACOCRL
Ontologies - Pathways
QuickGOQ01968
Ontology : AmiGOin utero embryonic development  photoreceptor outer segment  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  GTPase activator activity  GTPase activator activity  protein binding  nucleus  cytoplasm  early endosome  Golgi stack  Golgi-associated vesicle  trans-Golgi network  cytosol  plasma membrane  coated pit  lipid metabolic process  phosphatidylinositol biosynthetic process  signal transduction  clathrin-coated vesicle  phagocytic vesicle membrane  early endosome membrane  cilium assembly  regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  inositol phosphate metabolic process  phosphatidylinositol dephosphorylation  Rac GTPase binding  regulation of small GTPase mediated signal transduction  inositol-1,4,5-trisphosphate 5-phosphatase activity  inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity  inositol phosphate phosphatase activity  inositol phosphate phosphatase activity  extracellular exosome  
Ontology : EGO-EBIin utero embryonic development  photoreceptor outer segment  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  GTPase activator activity  GTPase activator activity  protein binding  nucleus  cytoplasm  early endosome  Golgi stack  Golgi-associated vesicle  trans-Golgi network  cytosol  plasma membrane  coated pit  lipid metabolic process  phosphatidylinositol biosynthetic process  signal transduction  clathrin-coated vesicle  phagocytic vesicle membrane  early endosome membrane  cilium assembly  regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  inositol phosphate metabolic process  phosphatidylinositol dephosphorylation  Rac GTPase binding  regulation of small GTPase mediated signal transduction  inositol-1,4,5-trisphosphate 5-phosphatase activity  inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity  inositol phosphate phosphatase activity  inositol phosphate phosphatase activity  extracellular exosome  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system   
NDEx NetworkOCRL
Atlas of Cancer Signalling NetworkOCRL
Wikipedia pathwaysOCRL
Orthology - Evolution
OrthoDB4952
GeneTree (enSembl)ENSG00000122126
Phylogenetic Trees/Animal Genes : TreeFamOCRL
HOVERGENQ01968
HOGENOMQ01968
Homologs : HomoloGeneOCRL
Homology/Alignments : Family Browser (UCSC)OCRL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOCRL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OCRL
dbVarOCRL
ClinVarOCRL
1000_GenomesOCRL 
Exome Variant ServerOCRL
ExAC (Exome Aggregation Consortium)OCRL (select the gene name)
Genetic variants : HAPMAP4952
Genomic Variants (DGV)OCRL [DGVbeta]
DECIPHER (Syndromes)X:128674252-128726530  ENSG00000122126
CONAN: Copy Number AnalysisOCRL 
Mutations
ICGC Data PortalOCRL 
TCGA Data PortalOCRL 
Broad Tumor PortalOCRL
OASIS PortalOCRL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOCRL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOCRL
LOVD (Leiden Open Variation Database)LOVD at NCBI
BioMutasearch OCRL
DgiDB (Drug Gene Interaction Database)OCRL
DoCM (Curated mutations)OCRL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OCRL (select a term)
intoGenOCRL
Cancer3DOCRL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300535    300555    309000   
Orphanet123    12454   
MedgenOCRL
Genetic Testing Registry OCRL
NextProtQ01968 [Medical]
TSGene4952
GENETestsOCRL
Huge Navigator OCRL [HugePedia]
snp3D : Map Gene to Disease4952
BioCentury BCIQOCRL
ClinGenOCRL (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4952
Chemical/Pharm GKB GenePA31896
Clinical trialOCRL
Miscellaneous
canSAR (ICR)OCRL (select the gene name)
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOCRL
EVEXOCRL
GoPubMedOCRL
iHOPOCRL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:46:27 CET 2016

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