OCRL (OCRL inositol polyphosphate-5-phosphatase)

2006-10-01  

Identity

HGNC
OCRL
LOCATION
Xq26.1
LOCUSID
4952
ALIAS
Dent-2,INPP5F,LOCR,NPHL2,OCRL-1,OCRL1

Other Information

Locus ID:

NCBI: 4952
MIM: 300535
HGNC: 8108
Ensembl: ENSG00000122126

Variants:

dbSNP: 4952
ClinVar: 4952
TCGA: ENSG00000122126
COSMIC: OCRL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122126ENST00000357121Q01968
ENSG00000122126ENST00000357121A0A2X0TVZ9
ENSG00000122126ENST00000371113Q01968
ENSG00000122126ENST00000646010A0A2R8YF88
ENSG00000122126ENST00000646914A0A2R8YCN4
ENSG00000122126ENST00000647245A0A2R8YG38

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204
Synthesis of IP2, IP, and Ins in the cytosolREACTOMER-HSA-1855183
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the Golgi membraneREACTOMER-HSA-1660514
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10204tenofovirChemicalClinicalAnnotationassociatedPD25485598
PA447230HIVDiseaseClinicalAnnotationassociatedPD25485598

References

Pubmed IDYearTitleCitations
371727242023Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane.0
371893632023Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.2
371727242023Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane.0
371893632023Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.2
345864102022Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.0
359190342022Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.1
345864102022Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.0
359190342022Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.1
335174442021Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.3
335280452021Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.2
339879092021OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring.9
344887562021Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.1
346809922021Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?5
347316042021SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.8
335174442021Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.3

Citation

Dessen P

OCRL (OCRL inositol polyphosphate-5-phosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43386