Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000122126 Gene ID 4952 Accession 8108
Symbol OCRL Alias LOCR;DENT2;NPHL2;OCRL1;Dent-2;INPP5F;OCRL-1 Full Name OCRL inositol polyphosphate-5-phosphatase
Status Confidence Length 52303 bases Strand Plus strand
Position X : 129540259 - 129592561 RNA binding domain Exo_endo_phos
Summary 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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000495615 Exo_endo_phos PF03372 4.8e-15 1
ENSP00000349635 Exo_endo_phos PF03372 1.9e-14 1
ENSP00000360154 Exo_endo_phos PF03372 2e-14 1
ENSP00000493809 Exo_endo_phos PF03372 3.2e-09 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
OCRL-204 ENST00000486673 942 No protein -
OCRL-202 ENST00000371113 5173 901aa ENSP00000360154
OCRL-201 ENST00000357121 5138 893aa ENSP00000349635
OCRL-209 ENST00000691455 2898 45aa ENSP00000510265
OCRL-210 ENST00000693473 5090 69aa ENSP00000509548
OCRL-205 ENST00000646010 5021 69aa ENSP00000494940
OCRL-208 ENST00000689093 1758 39aa ENSP00000510769
OCRL-207 ENST00000647245 4325 466aa ENSP00000495615
OCRL-206 ENST00000646914 4079 286aa ENSP00000493809
OCRL-203 ENST00000463271 856 No protein -

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0001701involved_in in utero embryonic development1IEAHomo_sapiens(9606)Process
GO:0001750located_in photoreceptor outer segment1IDAHomo_sapiens(9606)Component
GO:0004439enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity2IBA,TASHomo_sapiens(9606)Function
GO:0004445enables inositol-polyphosphate 5-phosphatase activity1IEAHomo_sapiens(9606)Function
GO:0005096enables GTPase activator activity1IDAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634located_in nucleus1IDAHomo_sapiens(9606)Component
GO:0005737is_active_in cytoplasm2IBA,IDAHomo_sapiens(9606)Component
GO:0005764located_in lysosome1IEAHomo_sapiens(9606)Component
GO:0005769located_in early endosome1IDAHomo_sapiens(9606)Component
GO:0005795located_in Golgi stack1TASHomo_sapiens(9606)Component
GO:0005798located_in Golgi-associated vesicle1TASHomo_sapiens(9606)Component
GO:0005802located_in trans-Golgi network1IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1TASHomo_sapiens(9606)Component
GO:0005886located_in plasma membrane1IDAHomo_sapiens(9606)Component
GO:0005905located_in clathrin-coated pit1IEAHomo_sapiens(9606)Component
GO:0006629involved_in lipid metabolic process1NASHomo_sapiens(9606)Process
GO:0006661involved_in phosphatidylinositol biosynthetic process1TASHomo_sapiens(9606)Process
GO:0007165involved_in signal transduction1IEAHomo_sapiens(9606)Process
GO:0016020is_active_in membrane1IBAHomo_sapiens(9606)Component
GO:0030136located_in clathrin-coated vesicle1IDAHomo_sapiens(9606)Component
GO:0030670located_in phagocytic vesicle membrane1IEAHomo_sapiens(9606)Component
GO:0031267enables small GTPase binding1IPIHomo_sapiens(9606)Function
GO:0031901located_in early endosome membrane1IEAHomo_sapiens(9606)Component
GO:0034485enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity1IEAHomo_sapiens(9606)Function
GO:0034596enables phosphatidylinositol phosphate 4-phosphatase activity1TASHomo_sapiens(9606)Function
GO:0036092involved_in phosphatidylinositol-3-phosphate biosynthetic process1IEAHomo_sapiens(9606)Process
GO:0043087involved_in regulation of GTPase activity1IDAHomo_sapiens(9606)Process
GO:0043647involved_in inositol phosphate metabolic process1TASHomo_sapiens(9606)Process
GO:0043813enables phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity1TASHomo_sapiens(9606)Function
GO:0046856involved_in phosphatidylinositol dephosphorylation1IBAHomo_sapiens(9606)Process
GO:0052658enables inositol-1,4,5-trisphosphate 5-phosphatase activity1TASHomo_sapiens(9606)Function
GO:0052659enables inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity1IEAHomo_sapiens(9606)Function
GO:0052745enables inositol phosphate phosphatase activity2IDA,NASHomo_sapiens(9606)Function
GO:0060271involved_in cilium assembly1IMPHomo_sapiens(9606)Process
GO:0061024involved_in membrane organization1TASHomo_sapiens(9606)Process

Expression