OCRL

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OCRL
PDB 2qv2 EBI.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesOCRL, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1, oculocerebrorenal syndrome of Lowe, inositol polyphosphate-5-phosphatase
External IDsOMIM: 300535 MGI: 109589 HomoloGene: 233 GeneCards: OCRL
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for OCRL
Genomic location for OCRL
BandXq26.1Start129,539,849 bp[1]
End129,592,561 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000276
NM_001587
NM_001318784

NM_177215

RefSeq (protein)

NP_000267
NP_001305713
NP_001578

NP_796189

Location (UCSC)Chr X: 129.54 – 129.59 MbChr X: 47.91 – 47.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Inositol polyphosphate 5-phosphatase OCRL-1 (INPP5F), also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.[5]

This gene encodes a phosphatase enzyme involved in actin polymerization, and is found in the trans-Golgi network.[5]

Mutation in this gene are associated with oculocerebrorenal syndrome[6] and also with Dent's disease.[7][8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000122126 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001173 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b "Entrez Gene: oculocerebrorenal syndrome of Lowe". 
  6. ^ Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I (June 1998). "Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes". Am. J. Med. Genet. 77 (5): 348–55. doi:10.1002/(SICI)1096-8628(19980605)77:5<348::AID-AJMG2>3.0.CO;2-J. PMID 9632163. 
  7. ^ Online Mendelian Inheritance in Man (OMIM) 300555
  8. ^ Hoopes RR, Shrimpton AE, Knohl SJ, et al. (February 2005). "Dent Disease with mutations in OCRL1". Am. J. Hum. Genet. 76 (2): 260–7. doi:10.1086/427887. PMC 1196371Freely accessible. PMID 15627218. 

Further reading[edit]

External links[edit]