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Protein Page:
INPP5E (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
INPP5E Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates. Defects in INPP5E are the cause of Joubert syndrome type 1 (JBTS1). A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Defects in INPP5E are the cause of mental retardation- truncal obesity-retinal dystrophy-micropenis (MORMS). An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type IV family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 3.1.3.36; Phosphatase (non-protein); Carbohydrate Metabolism - inositol phosphate
Cellular Component: cytoskeleton; axoneme; cytosol
Molecular Function: phosphoinositide 5-phosphatase activity; inositol-polyphosphate 5-phosphatase activity
Biological Process: phospholipid metabolic process; inositol phosphate dephosphorylation; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation
Reference #:  Q9NRR6 (UniProtKB)
Alt. Names/Synonyms: 72 kDa inositol polyphosphate 5-phosphatase; CORS1; inositol polyphosphate-5-phosphatase, 72 kDa; INP5E; INPP5E; JBTS1; MGC117201; MORMS; phosphatidylinositol (4,5) bisphosphate 5-phosphatase; Phosphatidylinositol polyphosphate 5-phosphatase type IV; Phosphatidylinositol-4,5-bisphosphate 5-phosphatase; PPI5PIV
Gene Symbols: INPP5E
Molecular weight: 70,205 Da
Basal Isoelectric point: 9.16  Predict pI for various phosphorylation states
Select Structure to View Below

INPP5E

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 A30 LQGQLPGAPPAQRAG
0 12 S85-p PRLERALsLDDKGWR
0 1 K89 RALsLDDKGWRRRRF
0 7 S99-p RRRRFRGsQEDLEAR
0 1 T109-p DLEARNGtSPSRGSV
0 1 S153-p VLSSERGsPSsGGNP
0 1 S156-p SERGsPSsGGNPLSG
0 1 S166-p NPLSGVAsSSPNLPH
0 1 P193 PSLLPPRPPPALSLD
0 9 S232-p PLLVRAHssLGPGRP
0 6 S233-p LLVRAHssLGPGRPR
0 19 S241-p LGPGRPRsPLACDDC
0 1 S249 PLACDDCSLRSAKSS
0 1 S252 CDDCSLRSAKSSFSL
0 2 S256 SLRSAKSSFSLLAPI
0 6 Y293-p GADELARyFPDRNVA
0 1 Y439-p VAERLLDyTRTVQAL
0 1 T455-p LPRNVPDtNPYRSSA
0 1 K521-ub MRKGSIFkGFQEPDI
0 1 T542-p KFDIGKDtYDSTSKQ
0 1 S634 QRQQALQSQNSSTIC
0 1 S637 QALQSQNSSTICSVS
0 1 S644 SSTICSVS_______
  mouse

 
T29-p LQGQPPNtEKKLIPT
S89-p PKLERTLsLDDkGWR
K93-ac RTLsLDDkGWRRRRF
S103-p RRRRFRGsQEDLTVQ
A113 DLTVQNGASPCRGSL
S157 ATGSEGGSPSLWSDC
L160 SEGGSPSLWSDCLSG
S170 DCLSGMISTSLDLLH
T197-p ASLHASHtPPAMDLS
S236-p TRLVRAHsNLGPSRP
N237 RLVRAHsNLGPSRPR
S245-p LGPSRPRsPLAGDDH
S253-p PLAGDDHsIHsARsF
S256-p GDDHsIHsARsFSLL
S259-p HsIHsARsFSLLAPI
Y296 GAEELARYFPDRNMA
Y442 VAERLLDYSRTIQAL
T458 LPRNVPDTNPYRSSA
R524 MKKGSIFRGFEEAEI
T545 KFDIGKDTYDSTSKQ
S637-p QRQEALKsQSsSAVC
S640-p EALKsQSsSAVCTVs
S647-p sSAVCTVs_______
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