You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP01572
Secondary Accession Numbers
  • 6868
Name 72 kDa inositol polyphosphate 5-phosphatase
Synonyms
  1. Phosphatidylinositol polyphosphate 5-phosphatase type IV
  2. Phosphatidylinositol-4,5-bisphosphate 5-phosphatase
  3. Phosphatidylinositol 4,5-bisphosphate 5-phosphatase
Gene Name INPP5E
Protein Type Enzyme
Biological Properties
General Function Involved in inositol-polyphosphate 5-phosphatase activity
Specific Function Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates.
Pathways
  • Inositol phosphate metabolism
  • Joubert syndrome
  • Phosphatidylinositol 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
phosphatidylinositol dephosphorylation
inositol phosphate dephosphorylation
phosphatidylinositol phosphorylation
positive regulation of neuron projection development
Cellular Component
cytosol
Golgi cisterna membrane
cytoskeleton
plasma membrane
cilium axoneme
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-polyphosphate 5-phosphatase activity
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
Cellular Location
  1. Cytoplasm
  2. Peripheral membrane protein
  3. Cytoplasmic side
  4. Golgi apparatus
  5. Golgi stack membrane
  6. cytoskeleton
  7. cilium axoneme
Gene Properties
Chromosome Location 9
Locus 9q34.3
SNPs INPP5E
Gene Sequence
>1935 bp
ATGCCGTCCAAGGCGGAGAATCTGCGGCCCTCCGAGCCGGCCCCGCAGCCGCCGGAAGGG
AGGACGCTCCAAGGACAGCTTCCCGGCGCTCCGCCGGCCCAGCGCGCGGGGTCCCCACCC
GATGCTCCGGGCTCCGAGAGCCCCGCGCTTGCCTGCAGCACTCCGGCCACGCCCAGCGGC
GAGGACCCGCCAGCCCGAGCAGCACCCATCGCCCCGCGGCCCCCCGCCAGGCCTCGACTG
GAGCGAGCCCTGTCCCTGGACGACAAGGGCTGGAGGAGGAGGCGTTTTCGAGGCAGCCAG
GAGGACCTGGAAGCCCGGAATGGGACCAGTCCCTCCAGGGGCTCAGTGCAGAGCGAGGGC
CCCGGGGCCCCCGCCCACAGCTGCTCCCCGCCCTGCCTGAGCACCTCCTTGCAGGAAATC
CCCAAGTCCCGCGGGGTCCTGAGCAGTGAGAGAGGGAGCCCGTCCTCGGGGGGTAACCCT
CTCTCTGGGGTGGCCAGCAGCTCCCCGAACCTCCCGCACAGAGACGCCGCCGTGGCGGGG
AGCTCGCCCAGGCTGCCCAGCCTGCTGCCCCCGCGCCCACCGCCTGCCCTGAGCCTGGAC
ATCGCCTCCGACTCCCTGAGGACAGCAAACAAGGTCGACTCGGATCTTGCAGACTACAAG
CTCCGCGCGCAGCCGCTCCTGGTGCGGGCCCACAGCAGCCTGGGCCCCGGCCGGCCGCGG
AGCCCCCTGGCCTGCGACGACTGTTCCCTTCGCTCGGCCAAATCCTCCTTCAGCCTCCTG
GCGCCCATCCGCAGCAAGGACGTCCGCAGCAGGAGTTACCTGGAGGGCAGCCTCCTGGCC
AGCGGGGCCCTGTTGGGGGCGGATGAGCTGGCCCGCTACTTCCCAGACCGGAACGTGGCA
CTCTTCGTGGCCACCTGGAACATGCAGGGCCAGAAGGAGCTCCCGCCCAGCCTGGACGAG
TTCCTGCTCCCAGCCGAGGCCGACTATGCCCAGGACCTGTATGTCATCGGGGTCCAGGAG
GGCTGTTCTGACACGCGGGAGTGGGAGACTCGTCTGCAGGAGACGCTGGGCCCGCACTAT
GTGCTGCTGTCCTCGGCGGCCCACGGCGTGCTCTACATGTCGCTCTTCATCCGCAGGGAC
CTCATCTGGTTCTGCTCAGAGGTGGAGTGCTCCACGGTGACCACACGCATCGTGTCTCAG
ATCAAGACCAAGGGGGCCTTGGGCATCAGCTTCACCTTTTTTGGCACTTCCTTCCTCTTC
ATCACGTCCCACTTCACCTCAGGTGACGGGAAGGTGGCGGAGCGGCTGCTGGACTACACC
AGGACTGTACAAGCCCTGGTCCTGCCCAGAAATGTGCCCGACACCAACCCCTATCGCTCC
AGCGCAGCGGACGTCACCACCCGCTTCGATGAGGTGTTCTGGTTTGGAGACTTCAACTTC
CGCCTGAGTGGCGGGCGCACAGTCGTGGACGCCCTCCTGTGCCAGGGCCTGGTGGTGGAC
GTGCCGGCGCTGCTGCAGCACGACCAGCTCATCCGGGAGATGCGGAAAGGGTCCATCTTC
AAGGGCTTCCAGGAGCCGGACATCCACTTCCTCCCATCATACAAGTTTGACATCGGGAAG
GACACGTACGACAGCACCTCCAAGCAGAGGACGCCCTCATACACGGACCGCGTCTTGTAC
AGAAGCCGCCACAAGGGTGACATCTGTCCTGTGAGCTACTCTTCCTGCCCCGGGATCAAG
ACGTCCGACCACCGCCCTGTGTATGGCCTCTTCCGGGTGAAAGTGAGGCCGGGGCGAGAC
AACATTCCGTTGGCAGCTGGCAAATTTGATAGAGAACTGTACTTACTAGGAATTAAAAGA
CGGATTTCGAAGGAGATTCAGAGGCAGCAAGCACTACAGAGTCAGAACTCCAGCACCATC
TGCTCCGTTTCTTGA
Protein Properties
Number of Residues 644
Molecular Weight 70204.435
Theoretical pI 8.96
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>72 kDa inositol polyphosphate 5-phosphatase
MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSG
EDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQEDLEARNGTSPSRGSVQSEG
PGAPAHSCSPPCLSTSLQEIPKSRGVLSSERGSPSSGGNPLSGVASSSPNLPHRDAAVAG
SSPRLPSLLPPRPPPALSLDIASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPR
SPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA
LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWETRLQETLGPHY
VLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQIKTKGALGISFTFFGTSFLF
ITSHFTSGDGKVAERLLDYTRTVQALVLPRNVPDTNPYRSSAADVTTRFDEVFWFGDFNF
RLSGGRTVVDALLCQGLVVDVPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGK
DTYDSTSKQRTPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD
NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS
GenBank ID Protein 8925284
UniProtKB/Swiss-Prot ID Q9NRR6
UniProtKB/Swiss-Prot Entry Name INP5E_HUMAN
PDB IDs
GenBank Gene ID AF187891
GeneCard ID INPP5E
GenAtlas ID Not Available
HGNC ID HGNC:21474
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science. 2007 May 25;316(5828):1160-6. [PubMed:17525332 ]
  3. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed:15164053 ]
  4. Molina H, Horn DM, Tang N, Mathivanan S, Pandey A: Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Proc Natl Acad Sci U S A. 2007 Feb 13;104(7):2199-204. Epub 2007 Feb 7. [PubMed:17287340 ]
  5. Kisseleva MV, Wilson MP, Majerus PW: The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase. J Biol Chem. 2000 Jun 30;275(26):20110-6. [PubMed:10764818 ]
  6. Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compere P, Schiffmann SN, Gergely F, Riley JH, Perez-Morga D, Woods CG, Schurmans S: INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat Genet. 2009 Sep;41(9):1027-31. doi: 10.1038/ng.427. Epub 2009 Aug 9. [PubMed:19668215 ]
  7. Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG: Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9. [PubMed:19668216 ]