Gene/Proteome Database (LMPD)

LMPD ID
LMP002353
Gene ID
56623
Species
Homo sapiens (Human)
Gene Name
inositol polyphosphate-5-phosphatase, 72 kDa
Gene Symbol
INPP5E
Synonyms
CORS1; CPD4; JBTS1; MORMS; PPI5PIV
Alternate Names
72 kDa inositol polyphosphate 5-phosphatase; phosphatidylinositol 4,5-bisphosphate 5-phosphatase; phosphatidylinositol-4,5-bisphosphate 5-phosphatase; phosphatidylinositol (4,5) bisphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase type IV
Chromosome
9
Map Location
9q34.3
EC Number
3.1.3.36
Summary
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly.[provided by RefSeq, Feb 2011]
Orthologs
View orthologs and multiple alignments for INPP5E

Proteins

72 kDa inositol polyphosphate 5-phosphatase
Refseq ID NP_063945
Protein GI 38327539
UniProt ID Q9NRR6
mRNA ID NM_019892
Length 644
RefSeq Status REVIEWED
MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSGEDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQEDLEARNGTSPSRGSVQSEGPGAPAHSCSPPCLSTSLQEIPKSRGVLSSERGSPSSGGNPLSGVASSSPNLPHRDAAVAGSSPRLPSLLPPRPPPALSLDIASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPRSPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVALFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWETRLQETLGPHYVLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQIKTKGALGISFTFFGTSFLFITSHFTSGDGKVAERLLDYTRTVQALVLPRNVPDTNPYRSSAADVTTRFDEVFWFGDFNFRLSGGRTVVDALLCQGLVVDVPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGKDTYDSTSKQRTPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRDNIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS

Gene Information

Entrez Gene ID
56623
Gene Name
inositol polyphosphate-5-phosphatase, 72 kDa
Gene Symbol
INPP5E
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0000139 IEA:Ensembl C Golgi membrane
GO:0005930 IDA:UniProtKB C axoneme
GO:0005856 IEA:UniProtKB-KW C cytoskeleton
GO:0005829 TAS:Reactome C cytosol
GO:0004445 TAS:UniProtKB F inositol-polyphosphate 5-phosphatase activity
GO:0004439 IEA:UniProtKB-EC F phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0046855 IEA:Ensembl P inositol phosphate dephosphorylation
GO:0006661 TAS:Reactome P phosphatidylinositol biosynthetic process
GO:0046856 IEA:Ensembl P phosphatidylinositol dephosphorylation
GO:0006644 TAS:Reactome P phospholipid metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00562 Inositol phosphate metabolism
hsa01100 Metabolic pathways

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_121175 PI Metabolism
REACT_120836 Synthesis of PIPs at the Golgi membrane

Domain Information

InterPro Annotations

Accession Description
IPR005135 Endonuclease/exonuclease/phosphatase
IPR000300 Inositol polyphosphate-related phosphatase

UniProt Annotations

Entry Information

Gene Name
inositol polyphosphate-5-phosphatase, 72 kDa
Protein Entry
INP5E_HUMAN
UniProt ID
Q9NRR6
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NRR6-1; Sequence=Displayed; Name=2; IsoId=Q9NRR6-2; Sequence=VSP_009799;
Catalytic Activity 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
Disease Joubert syndrome 1 (JBTS1) [MIM
Disease Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM
Enzyme Regulation Active in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTAB.
Function Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5- bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates.
Sequence Caution Sequence=AAB03215.1; Type=Miscellaneous discrepancy; Note=Several sequencing problems.; Evidence= ;
Similarity Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type IV family.
Subcellular Location Cytoplasm, cytoskeleton, cilium axoneme {ECO
Subunit Interacts (when prenylated) with PDE6D; this is important for normal location in cilia.
Tissue Specificity Detected in brain, heart, pancreas, testis and spleen.

Identical and Related Proteins

Unique RefSeq proteins for LMP002353 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
38327539 RefSeq NP_063945 644 72 kDa inositol polyphosphate 5-phosphatase

Identical Sequences to LMP002353 proteins

Reference Database Accession Length Protein Name
GI:38327539 GenBank AAH28032.1 644 Inositol polyphosphate-5-phosphatase, 72 kDa [Homo sapiens]
GI:38327539 GenBank EAW88234.1 644 inositol polyphosphate-5-phosphatase, 72 kDa, isoform CRA_b [Homo sapiens]
GI:38327539 GenBank AIC51917.1 644 INPP5E, partial [synthetic construct]
GI:38327539 SwissProt Q9NRR6.2 644 RecName: Full=72 kDa inositol polyphosphate 5-phosphatase; AltName: Full=Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; AltName: Full=Phosphatidylinositol polyphosphate 5-phosphatase type IV [Homo sapiens]

Related Sequences to LMP002353 proteins

Reference Database Accession Length Protein Name
GI:38327539 GenBank AAF81404.1 644 phosphatidylinositol polyphosphate 5-phosphatase type IV [Homo sapiens]
GI:38327539 GenBank JAA01782.1 644 inositol polyphosphate-5-phosphatase, 72 kDa [Pan troglodytes]
GI:38327539 GenBank JAA18607.1 644 inositol polyphosphate-5-phosphatase, 72 kDa [Pan troglodytes]
GI:38327539 GenBank JAA24209.1 644 inositol polyphosphate-5-phosphatase, 72 kDa [Pan troglodytes]
GI:38327539 RefSeq NP_001070981.1 644 72 kDa inositol polyphosphate 5-phosphatase [Pan troglodytes]
GI:38327539 SwissProt A0FI79.1 644 RecName: Full=72 kDa inositol polyphosphate 5-phosphatase; AltName: Full=Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; AltName: Full=Phosphatidylinositol polyphosphate 5-phosphatase type IV [Pan troglodytes]