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Identification
HMDB Protein ID HMDBP01569
Secondary Accession Numbers
  • 6865
Name Inositol polyphosphate 5-phosphatase OCRL-1
Synonyms
  1. Lowe oculocerebrorenal syndrome protein
Gene Name OCRL
Protein Type Unknown
Biological Properties
General Function Involved in inositol or phosphatidylinositol phosphatase activity
Specific Function Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly.
Pathways
  • Inositol phosphate metabolism
  • Phosphatidylinositol signaling system
Reactions
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + Water → 1-phosphatidyl-1D-myo-inositol 4-phosphate + Phosphoric acid details
1-Phosphatidyl-D-myo-inositol 4,5-bisphosphate + Water → 1-Phosphatidyl-1D-myo-inositol 4-phosphate + Phosphoric acid details
GO Classification
Biological Process
small molecule metabolic process
phosphatidylinositol biosynthetic process
cilium assembly
phosphatidylinositol dephosphorylation
regulation of small GTPase mediated signal transduction
phosphatidylinositol phosphorylation
small GTPase mediated signal transduction
Cellular Component
cytosol
Golgi-associated vesicle
photoreceptor outer segment
Golgi stack
early endosome
early endosome membrane
phagocytic vesicle membrane
clathrin-coated vesicle
coated pit
Component
cell part
intracellular
Function
hydrolase activity, acting on ester bonds
catalytic activity
hydrolase activity
phosphoric ester hydrolase activity
phosphatase activity
inositol or phosphatidylinositol phosphatase activity
Molecular Function
inositol phosphate phosphatase activity
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
Process
biological regulation
regulation of biological process
regulation of cellular process
signal transduction
Cellular Location
  1. Cytoplasmic
Gene Properties
Chromosome Location X
Locus Xq25
SNPs OCRL
Gene Sequence
>2706 bp
ATGGAGCCGCCGCTCCCGGTCGGAGCCCAGCCGCTTGCCACTGTCGAGGGTATGGAGATG
AAGGGTCCTCTCCGGGAGCCCTGCGCCCTGACCCTAGCCCAGAGGAACGGGCAATATGAG
TTAATAATCCAGTTGCATGAGAAGGAACAGCATGTTCAAGATATCATTCCTATAAATAGC
CACTTCAGATGTGTTCAAGAAGCAGAAGAAACTCTTTTGATTGACATAGCTTCTAACAGT
GGCTGCAAAATTCGGGTTCAGGGGGACTGGATCAGAGAGCGCCGCTTTGAAATCCCTGAT
GAGGAACACTGTTTGAAGTTCCTCTCAGCTGTCCTTGCTGCTCAGAAAGCTCAGTCACAG
CTTCTTGTTCCAGAGCAAAAGGACTCATCTAGCTGGTACCAGAAATTAGACACTAAGGAC
AAACCTTCTGTTTTTTCAGGGCTTCTTGGATTTGAAGACAATTTTTCTTCTATGAATTTG
GACAAGAAAATAAATTCACAAAATCAGCCTACTGGGATTCATCGGGAACCCCCACCTCCA
CCCTTTTCAGTGAATAAAATGCTTCCACGTGAAAAAGAAGCTTCTAACAAGGAGCAGCCC
AAAGTGACCAACACCATGCGGAAGCTCTTTGTACCAAATACCCAATCTGGGCAGCGGGAG
GGTCTCATCAAACATATCCTGGCAAAGCGAGAGAAAGAATATGTCAACATTCAGACTTTC
AGATTTTTTGTTGGAACTTGGAATGTGAATGGCCAGTCTCCAGATAGCGGGTTAGAACCT
TGGCTGAACTGTGATCCCAATCCTCCTGATATCTACTGCATTGGATTCCAAGAACTGGAC
TTGAGCACAGAAGCCTTCTTCTACTTTGAATCTGTGAAGGAACAAGAATGGTCCATGGCT
GTAGAGAGAGGTTTGCATTCCAAAGCCAAGTATAAGAAAGTTCAACTGGTGCGCCTTGTT
GGGATGATGCTTCTTATATTTGCCAGAAAGGATCAGTGTCGATACATTCGTGATATTGCT
ACAGAAACAGTTGGAACTGGAATCATGGGGAAAATGGGAAACAAAGGTGGGGTAGCTGTG
AGATTTGTATTTCACAACACCACCTTTTGCATTGTCAATTCCCATCTGGCTGCACACGTG
GAGGACTTTGAGAGAAGGAATCAAGATTATAAGGACATTTGTGCGAGAATGAGTTTTGTG
GTCCCAAATCAGACCCTCCCGCAGTTGAACATCATGAAACATGAGGTTGTCATTTGGTTG
GGAGATTTGAATTATAGACTTTGCATGCCTGATGCCAATGAGGTGAAAAGTCTTATTAAT
AAGAAAGACCTTCAGAGACTCTTGAAATTCGACCAGCTAAATATTCAGCGCACACAGAAA
AAAGCTTTTGTTGACTTCAATGAAGGGGAAATCAAGTTCATCCCCACTTATAAGTATGAC
TCTAAAACAGACCGGTGGGATTCCAGTGGGAAATGCCGGGTTCCAGCCTGGTGTGACCGA
ATTCTTTGGAGAGGAACAAATGTTAATCAGCTTAATTATCGGAGTCACATGGAACTGAAA
ACCAGCGACCACAAGCCTGTTAGCGCCCTCTTCCATATTGGGGTGAAGGTTGTGGATGAA
CGAAGGTACCGGAAAGTCTTTGAAGATAGTGTACGCATCATGGACAGAATGGAAAATGAC
TTCCTTCCTTCCTTAGAACTCAGCAGGAGGGAGTTTGTGTTTGAAAATGTGAAGTTTCGG
CAACTACAAAAGGAGAAGTTCCAGATCAGCAACAATGGACAGGTTCCCTGCCATTTTTCT
TTCATCCCTAAACTTAATGACAGCCAGTACTGCAAGCCATGGCTTCGGGCTGAACCTTTT
GAGGGCTACTTGGAGCCAAATGAGACAGTGGACATTTCTCTTGATGTGTATGTCAGCAAA
GACTCTGTAACCATCCTGAACTCGGGAGAAGATAAGATTGAAGATATTCTCGTCCTTCAC
CTGGATCGAGGCAAAGATTACTTCTTGACTATCAGTGGAAATTACCTCCCAAGTTGTTTT
GGCACATCCTTAGAGGCTCTGTGCCGTATGAAAAGACCAATCCGAGAAGTTCCTGTTACC
AAACTCATAGACTTGGAAGAAGACAGCTTCCTAGAAAAGGAGAAATCCCTTCTGCAAATG
GTTCCTTTGGATGAAGGTGCCAGTGAGAGACCCCTTCAGGTTCCCAAGGAGATCTGGCTT
CTAGTAGATCACCTATTCAAATACGCCTGTCACCAGGAGGACCTGTTCCAGACCCCTGGA
ATGCAGGAAGAGCTCCAGCAGATCATTGATTGTCTGGATACCAGCATTCCTGAGACAATC
CCTGGCAGCAACCACTCTGTGGCTGAAGCACTGCTCATTTTCTTGGAAGCCCTGCCAGAG
CCAGTCATCTGTTACGAGCTGTATCAGCGATGTCTTGACTCTGCTTATGATCCCCGGATC
TGCCGACAGGTGATCTCCCAGCTTCCGAGATGCCATAGAAATGTTTTCCGTTACTTGATG
GCATTCCTTCGAGAACTCTTAAAATTCTCTGAATACAATAGCGTCAATGCCAACATGATC
GCTACTCTCTTCACTAGTCTTCTCCTGAGGCCTCCACCCAACCTTATGGCAAGACAGACT
CCAAGTGACCGCCAGCGTGCTATTCAGTTCCTTCTGGGCTTTCTGCTTGGGAGCGAAGAA
GACTAA
Protein Properties
Number of Residues 901
Molecular Weight 104203.78
Theoretical pI 6.549
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Inositol polyphosphate 5-phosphatase OCRL-1
MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINS
HFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQ
LLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPP
PFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTF
RFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMA
VERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAV
RFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWL
GDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYD
SKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDE
RRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFS
FIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLH
LDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQM
VPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETI
PGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLM
AFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEE
D
GenBank ID Protein 66347006
UniProtKB/Swiss-Prot ID Q01968
UniProtKB/Swiss-Prot Entry Name OCRL_HUMAN
PDB IDs
GenBank Gene ID AL022162
GeneCard ID OCRL
GenAtlas ID OCRL
HGNC ID HGNC:8108
References
General References
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  3. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL: The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992 Jul 16;358(6383):239-42. [PubMed:1321346 ]
  4. Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC: Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997 Feb;99(2):145-50. [PubMed:9048911 ]
  5. Leahey AM, Charnas LR, Nussbaum RL: Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet. 1993 Apr;2(4):461-3. [PubMed:8504307 ]
  6. Zhang X, Jefferson AB, Auethavekiat V, Majerus PW: The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci U S A. 1995 May 23;92(11):4853-6. [PubMed:7761412 ]
  7. Zhang X, Hartz PA, Philip E, Racusen LC, Majerus PW: Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J Biol Chem. 1998 Jan 16;273(3):1574-82. [PubMed:9430698 ]
  8. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL: Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997 Jun;60(6):1384-8. [PubMed:9199559 ]
  9. Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL: Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab. 1998 May;64(1):58-61. [PubMed:9682219 ]
  10. Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I: Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. Am J Med Genet. 1998 Jun 5;77(5):348-55. [PubMed:9632163 ]
  11. Kubota T, Sakurai A, Arakawa K, Shimazu M, Wakui K, Furihata K, Fukushima Y: Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. Clin Genet. 1998 Sep;54(3):199-202. [PubMed:9788721 ]
  12. Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J: OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat. 2000;16(2):157-65. [PubMed:10923037 ]
  13. Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S: Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000 Mar;69(3):213-22. [PubMed:10767176 ]
  14. Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ: Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005 Feb;76(2):260-7. Epub 2004 Dec 30. [PubMed:15627218 ]