INPP5E | ENSG00000148384 | NCBI 56623

Details for: INPP5E

Gene ID: 56623

Symbol: INPP5E

Ensembl ID: ENSG00000148384

Description: inositol polyphosphate-5-phosphatase E

Associated with

Arl13b-mediated ciliary trafficking of inpp5e
(R-HSA-5624958)
Cargo trafficking to the periciliary membrane
(R-HSA-5620920)
Cilium assembly
(R-HSA-5617833)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Organelle biogenesis and maintenance
(R-HSA-1852241)
Phospholipid metabolism
(R-HSA-1483257)
Pi metabolism
(R-HSA-1483255)
Synthesis of pips at the golgi membrane
(R-HSA-1660514)
Axoneme
(GO:0005930)
Biological_process
(GO:0008150)
Cilium
(GO:0005929)
Cytosol
(GO:0005829)
Golgi apparatus
(GO:0005794)
Golgi cisterna membrane
(GO:0032580)
Golgi membrane
(GO:0000139)
Inositol-polyphosphate 5-phosphatase activity
(GO:0004445)
Negative regulation of phosphatidylinositol 3-kinase/protein kinase b signal transduction
(GO:0051898)
Negative regulation of protein localization to cilium
(GO:1903565)
Negative regulation of translation
(GO:0017148)
Nucleus
(GO:0005634)
Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity
(GO:0016314)
Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity
(GO:0034485)
Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
(GO:0043813)
Phosphatidylinositol-3-phosphate biosynthetic process
(GO:0036092)
Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
(GO:0004439)
Phosphatidylinositol biosynthetic process
(GO:0006661)
Phosphatidylinositol dephosphorylation
(GO:0046856)
Plasma membrane
(GO:0005886)
Ruffle
(GO:0001726)

Other Information

Proteins

72 kDa inositol polyphosphate 5-phosphatase

Genular Protein ID: 2890540

Symbol: INP5E_HUMAN

Name: 72 kDa inositol polyphosphate 5-phosphatase

UniProtKB Accession Codes:

Q9NRR6 Q15734 Q6PIV5

Database IDs:

Citations:

PubMed ID: 10764818

Title: The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase.

PubMed ID: 10764818

DOI: 10.1074/jbc.m910119199

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 19668215

Title: INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.

PubMed ID: 19668215

DOI: 10.1038/ng.427

PubMed ID: 19668216

Title: Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

PubMed ID: 19668216

DOI: 10.1038/ng.423

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24166846

Title: A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

PubMed ID: 24166846

DOI: 10.1002/humu.22470

PubMed ID: 23386033

Title: Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

PubMed ID: 23386033

DOI: 10.1038/ejhg.2012.305

PubMed ID: 23034536

Title: The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

PubMed ID: 23034536

DOI: 10.1038/jhg.2012.117

PubMed ID: 29052317

Title: Defective ciliogenesis in INPP5E-related Joubert syndrome.

PubMed ID: 29052317

DOI: 10.1002/ajmg.a.38376

Sequence Information:

Length: 644
Mass: 70205
Checksum: 5B6CFB75CD0ADC9A
Sequence:

MPSKAENLRP SEPAPQPPEG RTLQGQLPGA PPAQRAGSPP DAPGSESPAL ACSTPATPSG 
EDPPARAAPI APRPPARPRL ERALSLDDKG WRRRRFRGSQ EDLEARNGTS PSRGSVQSEG 
PGAPAHSCSP PCLSTSLQEI PKSRGVLSSE RGSPSSGGNP LSGVASSSPN LPHRDAAVAG 
SSPRLPSLLP PRPPPALSLD IASDSLRTAN KVDSDLADYK LRAQPLLVRA HSSLGPGRPR 
SPLACDDCSL RSAKSSFSLL APIRSKDVRS RSYLEGSLLA SGALLGADEL ARYFPDRNVA 
LFVATWNMQG QKELPPSLDE FLLPAEADYA QDLYVIGVQE GCSDRREWET RLQETLGPHY 
VLLSSAAHGV LYMSLFIRRD LIWFCSEVEC STVTTRIVSQ IKTKGALGIS FTFFGTSFLF 
ITSHFTSGDG KVAERLLDYT RTVQALVLPR NVPDTNPYRS SAADVTTRFD EVFWFGDFNF 
RLSGGRTVVD ALLCQGLVVD VPALLQHDQL IREMRKGSIF KGFQEPDIHF LPSYKFDIGK 
DTYDSTSKQR TPSYTDRVLY RSRHKGDICP VSYSSCPGIK TSDHRPVYGL FRVKVRPGRD 
NIPLAAGKFD RELYLLGIKR RISKEIQRQQ ALQSQNSSTI CSVS

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: INPP5E

Associated with

Other Information

The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase. PubMed ID: 10764818

DNA sequence and analysis of human chromosome 9. PubMed ID: 15164053

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. PubMed ID: 17525332

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. PubMed ID: 19668215

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. PubMed ID: 19668216

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. PubMed ID: 24166846

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. PubMed ID: 23386033

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. PubMed ID: 23034536

Defective ciliogenesis in INPP5E-related Joubert syndrome. PubMed ID: 29052317