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MGP005551

Record overview

MGPD IDMGP005551
Gene ID56623
SpeciesHomo sapiens (Human)
Gene Nameinositol polyphosphate-5-phosphatase, 72 kDa
Gene Symbol INPP5E
SynonymsCPD4; CORS1; JBTS1; MORMS; PPI5PIV;
Alternate names72 kDa inositol polyphosphate 5-phosphatase; phosphatidylinositol (4,5) bisphosphate 5-phosphatase; phosphatidylinositol 4,5-bisphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase type IV; phosphatidylinositol-4,5-bisphosphate 5-phosphatase;
Chromosome9
Map Location9q34.3
EC Number3.1.3.36
SummaryThe 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]
OrthologsView 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:
MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSGEDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQ
EDLEARNGTSPSRGSVQSEGPGAPAHSCSPPCLSTSLQEIPKSRGVLSSERGSPSSGGNPLSGVASSSPNLPHRDAAVAGSSPRLPSLLPPRPPPALSLD
IASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPRSPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA
LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWETRLQETLGPHYVLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQ
IKTKGALGISFTFFGTSFLFITSHFTSGDGKVAERLLDYTRTVQALVLPRNVPDTNPYRSSAADVTTRFDEVFWFGDFNFRLSGGRTVVDALLCQGLVVD
VPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGKDTYDSTSKQRTPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD
NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS
 
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