Property Summary

NCBI Gene PubMed Count 26
PubMed Score 28.41
PubTator Score 18.97

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count P-value
Pick disease 1893 5.8e-06
lung cancer 4473 3.4e-03
Disease Target Count Z-score Confidence
Oculocerebrorenal syndrome 24 6.119 3.1
Dent disease 20 4.287 2.1

Expression

  Differential Expression (2)

Disease log2 FC p
lung cancer -1.400 3.4e-03
Pick disease -1.100 5.8e-06

Gene RIF (7)

PMID Text
25305077 OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells
24704254 The crystal structures of human INPP5B in complex with phosphoinositide substrate analogs revealed a membrane interaction patch likely to assist in sequestering substrates from the lipid bilayer.
20872266 study found mouse Inpp5b and human INPP5B differ in their transcription, splicing and amino acid sequence; observations form foundation for analyzing the functional basis for the difference in how Inpp5b and INPP5B compensate for loss of Ocrl function
20808825 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19700499 The homologous phosphatase Inpp5b was unable to complement the Ocrl1-dependent cell migration defect.
19536138 The NH2-terminal region of OCRL, but not of INPP5B, binds clathrin heavy chain.
17956944 INPP5B is also localised to the early secretory pathway including the Golgi apparatus and ER-to-Golgi intermediate compartment (ERGIC).

AA Sequence

MDQSVAIQETLAEGEYCVIAVQGVLCEGDSRQSRLLGLVRYRLEHGGQEHALFLYTHRRMAITGDDVSLD      1 - 70
QIVPVSRDFTLEEVSPDGELYILGSDVTVQLDTAELSLVFQLPFGSQTRMFLHEVARACPGFDSATRDPE     71 - 140
FLWLSRYRCAELELEMPTPRGCNSALVTWPGYATIGGGRYPSRKKRWGLEEARPQGAGSVLFWGGAMEKT    141 - 210
GFRLMERAHGGGFVWGRSARDGRRDEELEEAGREMSAAAGSRERNTAGGSNFDGLRPNGKGVPMDQSSRG    211 - 280
QDKPESLQPRQNKSKSEITDMVRSSTITVSDKAHILSMQKFGLRDTIVKSHLLQKEEDYTYIQNFRFFAG    281 - 350
TYNVNGQSPKECLRLWLSNGIQAPDVYCVGFQELDLSKEAFFFHDTPKEEEWFKAVSEGLHPDAKYAKVK    351 - 420
LIRLVGIMLLLYVKQEHAAYISEVEAETVGTGIMGRMGNKGGVAIRFQFHNTSICVVNSHLAAHIEEYER    421 - 490
RNQDYKDICSRMQFCQPDPSLPPLTISNHDVILWLGDLNYRIEELDVEKVKKLIEEKDFQMLYAYDQLKI    491 - 560
QVAAKTVFEGFTEGELTFQPTYKYDTGSDDWDTSEKCRAPAWCDRILWKGKNITQLSYQSHMALKTSDHK    561 - 630
PVSSVFDIGVRVVNDELYRKTLEEIVRSLDKMENANIPSVSLSKREFCFQNVKYMQLKVESFTIHNGQVP    631 - 700
CHFEFINKPDEESYCKQWLNANPSRGFLLPDSDVEIDLELFVNKMTATKLNSGEDKIEDILVLHLDRGKD    701 - 770
YFLSVSGNYLPSCFGSPIHTLCYMREPILDLPLETISELTLMPVWTGDDGSQLDSPMEIPKELWMMVDYL    771 - 840
YRNAVQQEDLFQQPGLRSEFEHIRDCLDTGMIDNLSASNHSVAEALLLFLESLPEPVICYSTYHNCLECS    841 - 910
GNYTASKQVISTLPIFHKNVFHYLMAFLRELLKNSAKNHLDENILASIFGSLLLRNPAGHQKLDMTEKKK    911 - 980
AQEFIHQFLCNPL                                                             981 - 993
//

Text Mined References (29)

PMID Year Title
25869668 2015 Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.
25305077 2015 OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
24742366 2014 Identification of inhibitors of inositol 5-phosphatases through multiple screening strategies.
24704254 2014 Structural basis for phosphoinositide substrate recognition, catalysis, and membrane interactions in human inositol polyphosphate 5-phosphatases.
24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
23805271 2013 Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
22072788 2012 Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling.
21269460 2011 Initial characterization of the human central proteome.
21233288 2011 The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.
20872266 2010 Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.
20808825 2010 Novel association strategy with copy number variation for identifying new risk Loci of human diseases.
20133602 2010 Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
19700499 2009 Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.
19536138 2009 A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17956944 2007 Targeting of the type II inositol polyphosphate 5-phosphatase INPP5B to the early secretory pathway.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15761153 2005 High-throughput mapping of a dynamic signaling network in mammalian cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8530037 1995 Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens.
8529643 1995 Tissue distribution and intracellular localisation of the 75-kDa inositol polyphosphate 5-phosphatase.
8125013 1994 Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.
7721860 1995 Properties of type II inositol polyphosphate 5-phosphatase.
2542294 1989 Identification and isolation of a 75-kDa inositol polyphosphate-5-phosphatase from human platelets.
1718960 1991 Cloning and expression of human 75-kDa inositol polyphosphate-5-phosphatase.