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INPP5E inositol polyphosphate-5-phosphatase, 72 kDa [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_019892 Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), nuclear gene encoding mitochondrial protein, mRNA. ORF Sequence $561.15
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Gene Symbol INPP5E
Entrez Gene ID 56623
Full Name inositol polyphosphate-5-phosphatase, 72 kDa
Synonyms CORS1, CPD4, JBTS1, MGC117201, MORMS, PPI5PIV
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q34.3

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].
Disorder

MIM: 613037

Mental retardation, truncal obesity, retinal dystrophy, and

mRNA Protein Product Sequence Price Select
NM_019892, 326806964 NP_063945, 38327539 72 kDa inositol polyphosphate 5-phosphatase Full Length $1188.60
ORF Sequence $561.15
KEGG
hsa04070Phosphatidylinositol signaling system
hsa00562Inositol phosphate metabolism
BIOCYC
HUMAN_PWY-63683-phosphoinositide degradation
META_PWY-63683-phosphoinositide degradation
Reactome
REACT_22258Metabolism of lipids and lipoproteins
REACT_120836Synthesis of PIPs at the Golgi membrane
REACT_111217Metabolism
REACT_121175PI Metabolism
REACT_120870Phospholipid metabolism
Homo sapiens (human)INPP5ENP_063945.2
Pan troglodytes (chimpanzee)INPP5ENP_001070981.1
Macaca mulatta (Rhesus monkey)INPP5EXP_001095203.1
Canis lupus familiaris (dog)INPP5EXP_849208.1
Bos taurus (cattle)INPP5ENP_001179019.1
Mus musculus (house mouse)Inpp5eNP_149125.1
Rattus norvegicus (Norway rat)Sec16aXP_002729191.1
Gallus gallus (chicken)INPP5EXP_415418.2
Danio rerio (zebrafish)inpp5eNP_001096089.2
GeneCards INPP5E
PDB 2XSW
UniProt Q9NRR6
MIM 613037
Ensembl ENSG00000148384
HGNC 21474
HPRD 17151

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
72 kDa inositol polyphosphate 5-phosphatase
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
NP_063945.2

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