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INPP5E

GENERAL INFORMATION

Gene name

 INPP5E

Gene description

 Inositol polyphosphate-5-phosphatase E

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA065758
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 INPP5E (HGNC Symbol)

Synonyms

 CORS1, JBTS1, PPI5PIV

Description

 Inositol polyphosphate-5-phosphatase E (HGNC Symbol)

Entrez gene 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]

Chromosome

 9

Cytoband

 q34.3

Chromosome location (bp)

 136428619 - 136439822

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000148384 (version 83.38)

Entrez gene

 56623

UniProt

 Q9NRR6 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NRR6

Antibodypedia

 INPP5E antibodies

PROTEIN BROWSER
INPP5E-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
INPP5E-001
ENSP00000360777
ENST00000371712
Q9NRR6 [Direct mapping]
72 kDa inositol polyphosphate 5-phosphatase
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Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0001726 [ruffle]
GO:0004439 [phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity]
GO:0004445 [inositol-polyphosphate 5-phosphatase activity]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0005930 [axoneme]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0006996 [organelle organization]
GO:0008150 [biological_process]
GO:0010976 [positive regulation of neuron projection development]
GO:0032580 [Golgi cisterna membrane]
GO:0044281 [small molecule metabolic process]
GO:0046488 [phosphatidylinositol metabolic process]
GO:0046855 [inositol phosphate dephosphorylation]
GO:0046856 [phosphatidylinositol dephosphorylation]
GO:0072372 [primary cilium]
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 644 aa
70.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.