Sequence of INP5E_HUMAN
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 MPSKAENLRP SEPAPQPPEG RTLQGQLPGA PPAQRAGSPP DAPGSESPAL ACSTPATPSG
60 EDPPARAAPI APRPPARPRL ERALSLDDKG WRRRRFRGSQ EDLEARNGTS PSRGSVQSEG
120 PGAPAHSCSP PCLSTSLQEI PKSRGVLSSE RGSPSSGGNP LSGVASSSPN LPHRDAAVAG
180 SSPRLPSLLP PRPPPALSLD IASDSLRTAN KVDSDLADYK LRAQPLLVRA HSSLGPGRPR
240 SPLACDDCSL RSAKSSFSLL APIRSKDVRS RSYLEGSLLA SGALLGADEL ARYFPDRNVA
300 LFVATWNMQG QKELPPSLDE FLLPAEADYA QDLYVIGVQE GCSDRREWET RLQETLGPHY
360 VLLSSAAHGV LYMSLFIRRD LIWFCSEVEC STVTTRIVSQ IKTKGALGIS FTFFGTSFLF
420 ITSHFTSGDG KVAERLLDYT RTVQALVLPR NVPDTNPYRS SAADVTTRFD EVFWFGDFNF
480 RLSGGRTVVD ALLCQGLVVD VPALLQHDQL IREMRKGSIF KGFQEPDIHF LPSYKFDIGK
540 DTYDSTSKQR TPSYTDRVLY RSRHKGDICP VSYSSCPGIK TSDHRPVYGL FRVKVRPGRD
600 NIPLAAGKFD RELYLLGIKR RISKEIQRQQ ALQSQNSSTI CSVS
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
942471
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
942472
Humphray S.J.,Oliver K.,Hunt A.R.,Plumb R.W.,Loveland J.E.,Howe K.L.,Andrews T.D.,Searle S.,Hunt S.E.,Scott C.E.,Jones M.C.,Ainscough R.,Almeida J.P.,Ambrose K.D.,Ashwell R.I.S.,Babbage A.K.,Babbage S.,Bagguley C.L.,Bailey J.,Banerjee R.,Barker D.J.,Barlow K.F.,Bates K.,Beasley H.,Beasley O.,Bird C.P.,Bray-Allen S.,Brown A.J.,Brown J.Y.,Burford D.,Burrill W.,Burton J.,Carder C.,Carter N.P.,Chapman J.C.,Chen Y.,Clarke G.,Clark S.Y.,Clee C.M.,Clegg S.,Collier R.E.,Corby N.,Crosier M.,Cummings A.T.,Davies J.,Dhami P.,Dunn M.,Dutta I.,Dyer L.W.,Earthrowl M.E.,Faulkner L.,Fleming C.J.,Frankish A.,Frankland J.A.,French L.,Fricker D.G.,Garner P.,Garnett J.,Ghori J.,Gilbert J.G.R.,Glison C.,Grafham D.V.,Gribble S.,Griffiths C.,Griffiths-Jones S.,Grocock R.,Guy J.,Hall R.E.,Hammond S.,Harley J.L.,Harrison E.S.I.,Hart E.A.,Heath P.D.,Henderson C.D.,Hopkins B.L.,Howard P.J.,Howden P.J.,Huckle E.,Johnson C.,Johnson D.,Joy A.A.,Kay M.,Keenan S.,Kershaw J.K.,Kimberley A.M.,King A.,Knights A.,Laird G.K.,Langford C.,Lawlor S.,Leongamornlert D.A.,Leversha M.,Lloyd C.,Lloyd D.M.,Lovell J.,Martin S.,Mashreghi-Mohammadi M.,Matthews L.,McLaren S.,McLay K.E.,McMurray A.,Milne S.,Nickerson T.,Nisbett J.,Nordsiek G.,Pearce A.V.,Peck A.I.,Porter K.M.,Pandian R.,Pelan S.,Phillimore B.,Povey S.,Ramsey Y.,Rand V.,Scharfe M.,Sehra H.K.,Shownkeen R.,Sims S.K.,Skuce C.D.,Smith M.,Steward C.A.,Swarbreck D.,Sycamore N.,Tester J.,Thorpe A.,Tracey A.,Tromans A.,Thomas D.W.,Wall M.,Wallis J.M.,West A.P.,Whitehead S.L.,Willey D.L.,Williams S.A.,Wilming L.,Wray P.W.,Young L.,Ashurst J.L.,Coulson A.,Blocker H.,Durbin R.M.,Sulston J.E.,Hubbard T.,Jackson M.J.,Bentley D.R.,Beck S.,Rogers J.,Dunham I.
DNA sequence and analysis of human chromosome 9.
Nature
429
369-374
2004
942474
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
942476
Matsuoka S.,Ballif B.A.,Smogorzewska A.,McDonald E.R. III,Hurov K.E.,Luo J.,Bakalarski C.E.,Zhao Z.,Solimini N.,Lerenthal Y.,Shiloh Y.,Gygi S.P.,Elledge S.J.
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
Science
316
1160-1166
2007
942477
Jacoby M.,Cox J.J.,Gayral S.,Hampshire D.J.,Ayub M.,Blockmans M.,Pernot E.,Kisseleva M.V.,Compere P.,Schiffmann S.N.,Gergely F.,Riley J.H.,Perez-Morga D.,Woods C.G.,Schurmans S.
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
Nat. Genet.
41
1027-1031
2009
942478
Bielas S.L.,Silhavy J.L.,Brancati F.,Kisseleva M.V.,Al-Gazali L.,Sztriha L.,Bayoumi R.A.,Zaki M.S.,Abdel-Aleem A.,Rosti R.O.,Kayserili H.,Swistun D.,Scott L.C.,Bertini E.,Boltshauser E.,Fazzi E.,Travaglini L.,Field S.J.,Gayral S.,Jacoby M.,Schurmans S.,Dallapiccola B.,Majerus P.W.,Valente E.M.,Gleeson J.G.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Nat. Genet.
41
1032-1036
2009
942479
Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
J. Proteome Res.
12
260-271
2013
942480
Thomas S.,Wright K.J.,Le Corre S.,Micalizzi A.,Romani M.,Abhyankar A.,Saada J.,Perrault I.,Amiel J.,Litzler J.,Filhol E.,Elkhartoufi N.,Kwong M.,Casanova J.L.,Boddaert N.,Baehr W.,Lyonnet S.,Munnich A.,Burglen L.,Chassaing N.,Encha-Ravazi F.,Vekemans M.,Gleeson J.G.,Valente E.M.,Jackson P.K.,Drummond I.A.,Saunier S.,Attie-Bitach T.
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Hum. Mutat.
35
137-146
2014
942482
Travaglini L.,Brancati F.,Silhavy J.,Iannicelli M.,Nickerson E.,Elkhartoufi N.,Scott E.,Spencer E.,Gabriel S.,Thomas S.,Ben-Zeev B.,Bertini E.,Boltshauser E.,Chaouch M.,Cilio M.R.,de Jong M.M.,Kayserili H.,Ogur G.,Poretti A.,Signorini S.,Uziel G.,Zaki M.S.,Johnson C.,Attie-Bitach T.,Gleeson J.G.,Valente E.M.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Eur. J. Hum. Genet.
21
1074-1078
2013
942483
Tsurusaki Y.,Kobayashi Y.,Hisano M.,Ito S.,Doi H.,Nakashima M.,Saitsu H.,Matsumoto N.,Miyake N.
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
J. Hum. Genet.
58
113-115
2013
942484
Hardee I.,Soldatos A.,Davids M.,Vilboux T.,Toro C.,David K.L.,Ferreira C.R.,Nehrebecky M.,Snow J.,Thurm A.,Heller T.,Macnamara E.F.,Gunay-Aygun M.,Zein W.M.,Gahl W.A.,Malicdan M.C.V.
Defective ciliogenesis in INPP5E-related Joubert syndrome.
Am. J. Med. Genet. A
173
3231-3237
2017
