INPP5E
entrez
56623
canonical
uniprot
Q9NRR6
canonical
ensembl
ENSG00000148384
resolver
ensp
ENSP00000360777
resolver
ensp
ENSP00000580949
resolver
ensp
ENSP00000646347
resolver
ensp
ENSP00000698489
resolver
genesymbol
INPP5E
resolver
hgnc
HGNC:21474
resolver
uniprot
Q15734
resolver
uniprot
Q6PIV5
resolver
uniprot_entry
INP5E_HUMAN
resolver
uniprot_sec
Q15734
resolver
uniprot_sec
Q6PIV5
resolver
activity_regulation
ACTIVITY REGULATION: Active in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTAB. {ECO:0000269|PubMed:10764818}.
uniprot
proteins
amino_acid_sequence
MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSGEDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQEDLEARNGTSPSRGSVQSEGPGAPAHSCSPPCLSTSLQEIPKSRGVLSSERGSPSSGGNPLSGVASSSPNLPHRDAAVAGSSPRLPSLLPPRPPPALSLDIASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPRSPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVALFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWETRLQETLGPHYVLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQIKTKGALGISFTFFGTSFLFITSHFTSGDGKVAERLLDYTRTVQALVLPRNVPDTNPYRSSAADVTTRFDEVFWFGDFNFRLSGGRTVVDALLCQGLVVDVPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGKDTYDSTSKQRTPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRDNIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 1 (JBTS1) [MIM:213300]: 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. {ECO:0000269|PubMed:19668216, ECO:0000269|PubMed:23034536, ECO:0000269|PubMed:23386033, ECO:0000269|PubMed:29052317}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM:610156]: An autosomal recessive disorder characterized by moderate intellectual disability, 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. {ECO:0000269|PubMed:19668215}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.36
uniprot
proteins
ec_number
3.1.3.86
uniprot
proteins
function
FUNCTION: Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (By similarity) (PubMed:10764818). Specific for lipid substrates, inactive towards water soluble inositol phosphates (PubMed:10764818). Can also remove the 5-phosphate from 1D-myo-inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) (PubMed:40969890). Plays an essential role in the primary cilium by controlling ciliary growth and phosphoinositide 3-kinase (PI3K) signaling and stability (By similarity). {ECO:0000250|UniProtKB:Q9JII1, ECO:0000269|PubMed:10764818, ECO:0000269|PubMed:40969890}.
uniprot
proteins
mass_dalton
70205
uniprot
proteins
mutagenesis
MUTAGEN 641; /note="C->A: Abolishes farnesylation-dependent interaction with PDE6D."; /evidence="ECO:0000269|PubMed:24166846
uniprot
proteins
protein_family
4
uniprot
proteins
protein_family
5-trisphosphate 5-phosphatase type IV family
uniprot
proteins
protein_family
Inositol 1
uniprot
proteins
pubmed
10764818
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
19668215
uniprot
proteins
pubmed
19668216
uniprot
proteins
pubmed
23034536
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23386033
uniprot
proteins
pubmed
24166846
uniprot
proteins
pubmed
29052317
uniprot
proteins
pubmed
40969890
uniprot
proteins
sequence_length
644
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:19668215, ECO:0000269|PubMed:19668216, ECO:0000269|PubMed:24166846}. Golgi apparatus, Golgi stack membrane {ECO:0000250|UniProtKB:Q9JII1}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JII1}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9JII1}. Cell membrane {ECO:0000250|UniProtKB:Q9WVR1}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9WVR1}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9WVR1}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q9WVR1}. Cytoplasm {ECO:0000250|UniProtKB:Q9WVR1}. Nucleus {ECO:0000250|UniProtKB:Q9JII1}. Note=Peripheral membrane protein associated with Golgi stacks. {ECO:0000250|UniProtKB:Q9JII1}.
uniprot
proteins