INPP5E

GENERAL INFORMATION

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Gene name

INPP5E

Gene description

Inositol polyphosphate-5-phosphatase, 72 kDa

Protein class

Cytoskeleton related proteins
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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most tissues displayed weak to moderate cytoplasmic immunoreactivity. Heart and skeletal muscle cells, as well as Purkinje cells showed strong positivity. Mesenchymal tissues were generally negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA065758
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

INPP5E (HGNC Symbol)

Synonyms

CORS1, JBTS1, PPI5PIV

Description

Inositol polyphosphate-5-phosphatase, 72 kDa (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 78.38)

Entrez gene

56623

UniProt

Q9NRR6 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NRR6

Antibodypedia

INPP5E antibodies


PROTEIN BROWSER

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ENST00000371712
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

INPP5E-001 ENSP00000360777
ENST00000371712
Q9NRR6
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