• Gene id: 4952

Gene Summary

• Gene Symbol: OCRL   Gene   UCSC   Ensembl
• Aliases: Dent-2, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1
• Gene name: OCRL inositol polyphosphate-5-phosphatase
• Alternate names: inositol polyphosphate 5-phosphatase OCRL, Lowe oculocerebrorenal syndrome protein, inositol polyphosphate 5-phosphatase OCRL-1, oculocerebrorenal syndrome of Lowe, phosphatidylinositol 3,4,5-triphosphate 5-phosphatase, phosphatidylinositol polyphosphate 5-pho,
• Gene location: Xq26.1 (49803260: 49805029)     Exons: 2     NC_000003.12
• Gene summary(Entrez): 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 plas
• OMIM: 300535

Protein Summary

• Protein general information: Q01968  
  • Name: Inositol polyphosphate 5 phosphatase OCRL (EC 3.1.3.36) (EC 3.1.3.56) (Inositol polyphosphate 5 phosphatase OCRL 1) (OCRL 1) (Lowe oculocerebrorenal syndrome protein) (Phosphatidylinositol 3,4,5 triphosphate 5 phosphatase) (EC 3.1.3.86)
  • Length: 901  
  • Mass: 104205
  • Tissue specificity: Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. {ECO
• Sequence:

  MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINSHFRCVQEAEETLLID
  IASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLG
  FEDNFSSMNLDKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKH
  ILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMA
  VERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSH
  LAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWLGDLNYRLCMPDANEVKSLINKKDLQRLLKF
  DQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHK
  PVSALFHIGVKVVDERRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFS
  FIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNY
  LPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKYAC
  HQEDLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVI
  SQLPRCHRNVFRYLMAFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEE
  D

• Structural information:
  • Protein Domains: (1..11-)
    (/note="PH-)
    (721..90-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR036691  IPR005135  IPR013783  IPR000300  IPR037793   IPR037787  IPR031995  IPR008936  IPR000198  
  • Prosite: PS50238
  • CDD: cd09093 cd13382
  • PDB: 2KIE 2QV2 3QBT 3QIS 4CMN
  • PDBsum: 2KIE 2QV2 3QBT 3QIS 4CMN
  • DIP: 45092
  • STRING: ENSP00000360154
• Other Databases: GeneCards:  OCRL  Malacards:  OCRL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046855	inositol phosphate dephosphorylation	IBA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA	molecular function
GO:0052745	inositol phosphate phosphatase activity	IDA	molecular function
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0052745	inositol phosphate phosphatase activity	IEA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0005795	Golgi stack	TAS	cellular component
GO:0005798	Golgi-associated vesicle	TAS	cellular component
GO:0052659	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA	molecular function
GO:0052658	inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA	molecular function
GO:0004445	inositol-polyphosphate 5-phosphatase activity	IEA	molecular function
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0048365	Rac GTPase binding	IPI	molecular function
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0043087	regulation of GTPase activity	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0006629	lipid metabolic process	NAS	biological process
GO:0052745	inositol phosphate phosphatase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Dent disease	KEGG:H00694
Lowe syndrome	KEGG:H00692
Dent disease	KEGG:H00694
Lowe syndrome	KEGG:H00692
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)