Sequence of OCRL_HUMAN
EC Number:3.1.3.36
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate
Other sequences found for EC No. 3.1.3.36
EC Number:3.1.3.56
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate
Other sequences found for EC No. 3.1.3.56
EC Number:3.1.3.86
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + phosphate
Other sequences found for EC No. 3.1.3.86
General information:
Sequence
0 MEPPLPVGAQ PLATVEGMEM KGPLREPCAL TLAQRNGQYE LIIQLHEKEQ HVQDIIPINS
60 HFRCVQEAEE TLLIDIASNS GCKIRVQGDW IRERRFEIPD EEHCLKFLSA VLAAQKAQSQ
120 LLVPEQKDSS SWYQKLDTKD KPSVFSGLLG FEDNFSSMNL DKKINSQNQP TGIHREPPPP
180 PFSVNKMLPR EKEASNKEQP KVTNTMRKLF VPNTQSGQRE GLIKHILAKR EKEYVNIQTF
240 RFFVGTWNVN GQSPDSGLEP WLNCDPNPPD IYCIGFQELD LSTEAFFYFE SVKEQEWSMA
300 VERGLHSKAK YKKVQLVRLV GMMLLIFARK DQCRYIRDIA TETVGTGIMG KMGNKGGVAV
360 RFVFHNTTFC IVNSHLAAHV EDFERRNQDY KDICARMSFV VPNQTLPQLN IMKHEVVIWL
420 GDLNYRLCMP DANEVKSLIN KKDLQRLLKF DQLNIQRTQK KAFVDFNEGE IKFIPTYKYD
480 SKTDRWDSSG KCRVPAWCDR ILWRGTNVNQ LNYRSHMELK TSDHKPVSAL FHIGVKVVDE
540 RRYRKVFEDS VRIMDRMEND FLPSLELSRR EFVFENVKFR QLQKEKFQIS NNGQVPCHFS
600 FIPKLNDSQY CKPWLRAEPF EGYLEPNETV DISLDVYVSK DSVTILNSGE DKIEDILVLH
660 LDRGKDYFLT ISGNYLPSCF GTSLEALCRM KRPIREVPVT KLIDLEEDSF LEKEKSLLQM
720 VPLDEGASER PLQVPKEIWL LVDHLFKYAC HQEDLFQTPG MQEELQQIID CLDTSIPETI
780 PGSNHSVAEA LLIFLEALPE PVICYELYQR CLDSAYDPRI CRQVISQLPR CHRNVFRYLM
840 AFLRELLKFS EYNSVNANMI ATLFTSLLLR PPPNLMARQT PSDRQRAIQF LLGFLLGSEE
900 D
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
835171
Attree O.,Olivos I.M.,Okabe I.,Bailey L.C.,Nelson D.L.,Lewis R.A.,McInnes R.R.,Nussbaum R.L.
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.
Nature
358
239-242
1992
835173
Nussbaum R.L.,Orrison B.M.,Janne P.A.,Charnas L.R.,Chinault A.C.
Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.
Hum. Genet.
99
145-150
1997
835174
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
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2004
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The DNA sequence of the human X chromosome.
Nature
434
325-337
2005
835177
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
835178
Leahey A.-M.,Charnas L.R.,Nussbaum R.L.
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.
Hum. Mol. Genet.
2
461-463
1993
835179
Zhang X.,Jefferson A.B.,Auethavekiat V.,Majerus P.W.
The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.
Proc. Natl. Acad. Sci. U.S.A.
92
4853-4856
1995
835180
Zhang X.,Hartz P.A.,Philip E.,Racusen L.C.,Majerus P.W.
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.
273
1574-1582
1998
835181
Kisseleva M.V.,Wilson M.P.,Majerus P.W.
The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase.
J. Biol. Chem.
275
20110-20116
2000
835182
Schmid A.C.,Wise H.M.,Mitchell C.A.,Nussbaum R.,Woscholski R.
Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation.
FEBS Lett.
576
9-13
2004
835183
Swan L.E.,Tomasini L.,Pirruccello M.,Lunardi J.,De Camilli P.
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
Proc. Natl. Acad. Sci. U.S.A.
107
3511-3516
2010
835184
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
835185
Vicinanza M.,Di Campli A.,Polishchuk E.,Santoro M.,Di Tullio G.,Godi A.,Levtchenko E.,De Leo M.G.,Polishchuk R.,Sandoval L.,Marzolo M.P.,De Matteis M.A.
OCRL controls trafficking through early endosomes via PtdIns4,5P(2)-dependent regulation of endosomal actin.
EMBO J.
30
4970-4985
2011
835186
Noakes C.J.,Lee G.,Lowe M.
The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.
Mol. Biol. Cell
22
606-623
2011
835187
Luo N.,West C.C.,Murga-Zamalloa C.A.,Sun L.,Anderson R.M.,Wells C.D.,Weinreb R.N.,Travers J.B.,Khanna H.,Sun Y.
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
Hum. Mol. Genet.
21
3333-3344
2012
835188
Coon B.G.,Hernandez V.,Madhivanan K.,Mukherjee D.,Hanna C.B.,Barinaga-Rementeria Ramirez I.,Lowe M.,Beales P.L.,Aguilar R.C.
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.
Hum. Mol. Genet.
21
1835-1847
2012
835189
Bohdanowicz M.,Balkin D.M.,De Camilli P.,Grinstein S.
Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling.
Mol. Biol. Cell
23
176-187
2012
835190
Pirruccello M.,De Camilli P.
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
Trends Biochem. Sci.
37
134-143
2012
835191
Nakatsu F.,Messa M.,Nandez R.,Czapla H.,Zou Y.,Strittmatter S.M.,De Camilli P.
Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.
J. Cell Biol.
209
85-95
2015
835192
Mao Y.,Balkin D.M.,Zoncu R.,Erdmann K.S.,Tomasini L.,Hu F.,Jin M.M.,Hodsdon M.E.,De Camilli P.
A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.
EMBO J.
28
1831-1842
2009
835193
Hou X.,Hagemann N.,Schoebel S.,Blankenfeldt W.,Goody R.S.,Erdmann K.S.,Itzen A.
A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.
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30
1659-1670
2011
835194
Erdmann K.S.,Mao Y.,McCrea H.J.,Zoncu R.,Lee S.,Paradise S.,Modregger J.,Biemesderfer D.,Toomre D.,De Camilli P.
A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.
Dev. Cell
13
377-390
2007
835195
Pirruccello M.,Swan L.E.,Folta-Stogniew E.,De Camilli P.
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
Nat. Struct. Mol. Biol.
18
789-795
2011
835196
Lin T.,Orrison B.M.,Leahey A.-M.,Suchy S.F.,Bernard D.J.,Lewis R.A.,Nussbaum R.L.
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
Am. J. Hum. Genet.
60
1384-1388
1997
835197
Lin T.,Orrison B.M.,Suchy S.F.,Lewis R.A.,Nussbaum R.L.
Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.
Mol. Genet. Metab.
64
58-61
1998
835198
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.
77
348-355
1998
835199
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.
54
199-202
1998
835200
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.
16
157-165
2000
835201
Roeschinger W.,Muntau A.C.,Rudolph G.,Roscher A.A.,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.
69
213-222
2000
835202
Hoopes R.R. Jr.,Shrimpton A.E.,Knohl S.J.,Hueber P.,Hoppe B.,Matyus J.,Simckes A.,Tasic V.,Toenshoff B.,Suchy S.F.,Nussbaum R.L.,Scheinman S.J.
Dent disease with mutations in OCRL1.
Am. J. Hum. Genet.
76
260-267
2005
835203
Sekine T.,Nozu K.,Iyengar R.,Fu X.J.,Matsuo M.,Tanaka R.,Iijima K.,Matsui E.,Harita Y.,Inatomi J.,Igarashi T.
OCRL1 mutations in patients with Dent disease phenotype in Japan.
Pediatr. Nephrol.
22
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2007
835204
Yuksel A.,Karaca E.,Albayram M.S.
Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.
J. Child Neurol.
24
93-96
2009
835205
Hichri H.,Rendu J.,Monnier N.,Coutton C.,Dorseuil O.,Poussou R.V.,Baujat G.,Blanchard A.,Nobili F.,Ranchin B.,Remesy M.,Salomon R.,Satre V.,Lunardi J.
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hum. Mutat.
32
379-388
2011
