ENSDARG00000078106


Danio rerio

Features
Gene ID: ENSDARG00000078106
  
Biological name :ocrl
  
Synonyms : ocrl / oculocerebrorenal syndrome of Lowe
  
Possible biological names infered from orthology : Inositol polyphosphate 5-phosphatase OCRL-1 / OCRL, inositol polyphosphate-5-phosphatase / Q01968 / Q6NVF0
  
Species: Danio rerio
  
Chr. number: 14
Strand: -1
Band:
Gene start: 33825482
Gene end: 33859149
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSDARP00000098254
Ensembl peptide - ENSDARP00000136831
NCBI entrez gene - 777716     See in Manteia.
RefSeq - NM_001077764
RefSeq Peptide - NP_001071232
swissprot - F1QIY4
swissprot - A0A0R4IPY6
ZFIN ID - ZDB-GENE-061110-61
Ensembl - ENSDARG00000078106
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 OCRLENSGALG00000003920Gallus gallus
 OCRLENSG00000122126Homo sapiens
 OcrlENSMUSG00000001173Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
inpp5b / inositol polyphosphate-5-phosphatase B / P32019* / Q8K337* / Type II inositol 1,4,5-trisphosphate 5-phosphatase *ENSDARG0000010368341
synj1 / synaptojanin 1 / O43426*ENSDARG0000002501120
inppl1b / inositol polyphosphate phosphatase-like 1bENSDARG0000000144216
inppl1a / inositol polyphosphate phosphatase-like 1a / INPPL1* / O15357* / Q6P549* / inositol polyphosphate phosphatase like 1* / Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 *ENSDARG0000010422214
inpp5jb / inositol polyphosphate-5-phosphatase Jb / INPP5J* / P59644* / Q15735* / inositol polyphosphate-5-phosphatase J* / Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A *ENSDARG0000009335914
inpp5d / inositol polyphosphate-5-phosphatase D / Q92835* / Q9ES52* / Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 *ENSDARG0000007428314
inpp5ja / inositol polyphosphate-5-phosphatase Ja / INPP5J* / P59644* / Q15735* / inositol polyphosphate-5-phosphatase J* / Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A *ENSDARG0000007854214
inpp5kb / inositol polyphosphate-5-phosphatase Kb / INPP5K* / Q9BT40* / Q8C5L6* / inositol polyphosphate-5-phosphatase K*ENSDARG0000007861813
inpp5ka / inositol polyphosphate-5-phosphatase Ka / INPP5K* / Q9BT40* / Q8C5L6* / inositol polyphosphate-5-phosphatase K*ENSDARG0000009956313
inpp5e / inositol polyphosphate-5-phosphatase E / Q9JII1* / Q9NRR6* / 72 kDa inositol polyphosphate 5-phosphatase *ENSDARG0000010392612


Protein motifs (from Interpro)
Interpro ID Name
 IPR000198  Rho GTPase-activating protein domain
 IPR000300  Inositol polyphosphate-related phosphatase
 IPR005135  Endonuclease/exonuclease/phosphatase
 IPR008936  Rho GTPase activation protein
 IPR013783  Immunoglobulin-like fold
 IPR031995  Inositol polyphosphate 5-phosphatase, clathrin binding domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001755 neural crest cell migration IMP
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0006897 endocytosis IMP
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007420 brain development IMP
 biological_processGO:0032402 melanosome transport IMP
 biological_processGO:0043009 chordate embryonic development IMP
 biological_processGO:0043473 pigmentation IMP
 biological_processGO:0044782 cilium organization IMP
 biological_processGO:0046856 phosphatidylinositol dephosphorylation IMP
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis IMP
 biological_processGO:0048884 neuromast development IMP
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0071871 response to epinephrine IMP
 biological_processGO:0097205 renal filtration IMP
 cellular_componentGO:0005622 intracellular IEA
 molecular_functionGO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IMP
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0052745 inositol phosphate phosphatase activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the Golgi membrane
Synthesis of IP2, IP, and Ins in the cytosol
Synthesis of IP3 and IP4 in the cytosol
Rho GTPase cycle
Golgi Associated Vesicle Biogenesis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 ZFA:0000001 Kupffer s vesicle Kupffers vesicle cilium decreased length , abnormal
Kupffers vesicle has fewer parts of type ciliated epithelial cell cilium, abnormal
Show

 ZFA:0000008 brain brain decreased size , abnormal
brain hydrocephalic , abnormal
brain apoptotic , abnormal
Show

 ZFA:0000035 lens lens decreased size , abnormal
Show

 ZFA:0000042 midbrain hindbrain boundary midbrain hindbrain boundary morphology , abnormal
Show

 ZFA:0000054 pericardium pericardium edematous , abnormal
Show

 ZFA:0000075 spinal cord spinal cord apoptotic , abnormal
Show

 ZFA:0000107 eye eye decreased size , abnormal
eye decreased pigmentation , abnormal
Show

 ZFA:0000109 forebrain forebrain neuron electrical conductivity , abnormal
Show

 ZFA:0000150 pronephric duct pronephric duct cilium decreased length , abnormal
pronephric duct cilium decreased amount , abnormal
pronephric duct motile cilium decreased length , abnormal
pronephric duct endosome increased size , abnormal
pronephric duct endosome decreased amount , abnormal
pronephric duct endocytic vesicle decreased amount , abnormal
pronephric duct lysosome increased diameter , abnormal
Show

 ZFA:0000151 pronephros pronephros renal absorption decreased process quality , abnormal
pronephros anterior region cystic , abnormal
pronephros endocytosis decreased process quality , abnormal
pronephros endocytic recycling process quality , abnormal
Show

 ZFA:0000152 retina retina deformed , abnormal
Show

 ZFA:0000243 neuromast neuromast immature , abnormal
Show

 ZFA:0000360 heart tube heart tube displaced to whole organism right side, abnormal
heart tube displaced to whole organism central region, abnormal
Show

 ZFA:0001094 whole organism whole organism increased curvature , abnormal
whole organism edematous , abnormal
whole organism decreased pigmentation , abnormal
whole organism anterior-posterior axis asymmetrical , abnormal
whole organism semi-viable , abnormal
whole organism anterior-posterior axis decreased length , abnormal
whole organism curled , abnormal
whole organism apoptotic , abnormal
whole organism decreased life span , abnormal
whole organism decreased length , abnormal
Show

 ZFA:0001114 head head decreased size , abnormal
Show

 ZFA:0001117 post-vent region post-vent region kinked , abnormal
Show

 ZFA:0001205 Meckel s cartilage Meckels cartilage decreased length , abnormal
Show

 ZFA:0001261 ventricular system ventricular system distended , abnormal
Show

 ZFA:0001399 palatoquadrate cartilage palatoquadrate cartilage decreased length , abnormal
Show

 ZFA:0001400 ceratohyal cartilage ceratohyal cartilage malformed , abnormal
Show

 ZFA:0001405 ethmoid cartilage ethmoid cartilage absent , abnormal
Show

 ZFA:0001558 pronephric tubule pronephric tubule increased width , abnormal
pronephric tubule cilium increased length , abnormal
pronephric tubule cilium disorganized , abnormal
Show

 ZFA:0001580 neurocranium neurocranium decreased length , abnormal
Show

 ZFA:0001613 pharyngeal arch 3-7 pharyngeal arch 3-7 lacks parts or has fewer parts of type cartilage tissue , abnormal
Show

 ZFA:0001682 white matter white matter cystic , abnormal
white matter increased accumulation astrocyte , abnormal
Show

 ZFA:0005606 cranial vault cranial vault anterior region flattened , abnormal
Show

 ZFA:0009091 melanocyte melanocyte melanosome spatial pattern , abnormal
melanocyte mislocalised , abnormal
melanocyte decreased amount , abnormal
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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