INPP5E

INPP5E
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2XSW
Identifiers
Aliases	INPP5E , CORS1, CPD4, JBTS1, MORMS, PPI5PIV, inositol polyphosphate-5-phosphatase E, pharbin
External IDs	OMIM: 613037; MGI: 1927753; HomoloGene: 56863; GeneCards: INPP5E; OMA:INPP5E - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q34.3 Start 136,428,619 bp [1] End 136,439,845 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 A3 Start 26,286,261 bp [2] End 26,299,215 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube secondary oocyte right hemisphere of cerebellum apex of heart canal of the cervix right lobe of thyroid gland body of uterus left ovary right ovary left lobe of thyroid gland Top expressed in genital tubercle spermatid tail of embryo granulocyte cerebellar cortex ventricular zone aortic valve cumulus cell spermatocyte ascending aorta More reference expression data BioGPS n/a
Gene ontology Molecular function hydrolase activity inositol-polyphosphate 5-phosphatase activity phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity protein binding Cellular component cytoplasm cytosol Golgi apparatus cell projection membrane ruffle Golgi membrane plasma membrane Golgi cisterna membrane axoneme cytoskeleton cilium Biological process phosphatidylinositol metabolic process lipid metabolism phosphatidylinositol dephosphorylation phosphatidylinositol biosynthetic process inositol phosphate dephosphorylation biological process negative regulation of protein localization to cilium Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56623 64436 Ensembl ENSG00000148384 ENSMUSG00000026925 UniProt Q9NRR6 Q9JII1 RefSeq (mRNA) NM_019892 NM_001318502 NM_001290437 NM_033134 RefSeq (protein) NP_001305431 NP_063945 NP_001277366 NP_149125 Location (UCSC) Chr 9: 136.43 – 136.44 Mb Chr 2: 26.29 – 26.3 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

72 kDa inositol polyphosphate 5-phosphatase, also known as phosphatidylinositol-4,5-bisphosphate 5-phosphatase or Pharbin, is an enzyme that in humans is encoded by the INPP5E gene. ^{[5] [6]}

Function

INPP5E is a phosphatidylinositol (3,4,5)-trisphosphate (PtdInsP3) and phosphatidylinositol 4,5-bisphosphate 5-phosphatase. Its intracellular localization is the primary cilium, a small organelle involved in signal transduction. INPP5E plays a role in hydrolyzing PtdInsP3 produced in response to various growth factors such as PDGF. Inactivation of the mouse INPP5E gene decreases primary cilia stability, leading to a multiorgan disorder, including absence of eyes, polydactyly, exencephaly and renal cysts.

Clinical significance

Mutations in the INPP5E are associated with MORM syndrome ^[7] and Joubert syndrome. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000148384 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026925 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: inositol polyphosphate-5-phosphatase".
6. Kisseleva MV, Wilson MP, Majerus PW (June 2000). "The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase". The Journal of Biological Chemistry. 275 (26): 20110–6. doi: 10.1074/jbc.M910119199 . PMID   10764818.
7. Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG (May 2006). "MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34" (PDF). European Journal of Human Genetics. 14 (5): 543–8. doi:10.1038/sj.ejhg.5201577. PMID   16493448. S2CID   20931689.
8. Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG (September 2009). "Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies". Nature Genetics. 41 (9): 1032–6. doi:10.1038/ng.423. PMC   2746682 . PMID   19668216.

Further reading

• Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S, Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett JR, Langeberg LK, Scott JD, Pawson T (August 2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Current Biology. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi: 10.1016/j.cub.2004.07.051 . PMID   15324660. S2CID   2371325.
• Kong AM, Speed CJ, O'Malley CJ, Layton MJ, Meehan T, Loveland KL, Cheema S, Ooms LM, Mitchell CA (August 2000). "Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network". The Journal of Biological Chemistry. 275 (31): 24052–64. doi: 10.1074/jbc.M000874200 . PMID   10806194.
• Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compère P, Schiffmann SN, Gergely F, Riley JH, Pérez-Morga D, Woods CG, Schurmans S (September 2009). "INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse" (PDF). Nature Genetics. 41 (9): 1027–31. doi:10.1038/ng.427. hdl:2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52059. PMID   19668215. S2CID   5249668.
• Ono A, Ablan SD, Lockett SJ, Nagashima K, Freed EO (October 2004). "Phosphatidylinositol (4,5) bisphosphate regulates HIV-1 Gag targeting to the plasma membrane". Proceedings of the National Academy of Sciences of the United States of America. 101 (41): 14889–94. Bibcode:2004PNAS..10114889O. doi: 10.1073/pnas.0405596101 . PMC   522033 . PMID   15465916.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.