OCRL - OCRL inositol polyphosphate-5-phosphatase Gene

Also Known as LOCR; DENT2; NPHL2; OCRL1; Dent-2; INPP5F; OCRL-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4952

About OCRL

Cytogenetic location: Xq26.1 Genomic coordinates (GRCh38): X:129,540,259-129,592,556 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues, 13 paralogues and is associated with 6 phenotypes. Broad expression in testis (RPKM 21.7), adrenal (RPKM 15.8) and 25 other tissues.

Summary

This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

OCRL Products (3)

mRNA	Protein	Name
NM_000276.4	NP_000267.2	inositol polyphosphate 5-phosphatase OCRL isoform a
NM_001318784.2	NP_001305713.1	inositol polyphosphate 5-phosphatase OCRL isoform c
NM_001587.4	NP_001578.2	inositol polyphosphate 5-phosphatase OCRL isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	12915445	GOA
enables inositol phosphate phosphatase activity	IDA IDA: Inferred from direct assay	25869668	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12915445	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	12915445	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	22228094	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	21233288	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12915445	GOA
located in early endosome	IDA IDA: Inferred from direct assay	21233288	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12915445	GOA
located in photoreceptor outer segment	IDA IDA: Inferred from direct assay	22543976	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12915445	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	12915445	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OCRL Protein Structure

Exo_endo_phos

RhoGAP

0
200
400
600
800
901 a.a.

Protein Preferred Names	Protein Names
inositol polyphosphate 5-phosphatase OCRL	Lowe oculocerebrorenal syndrome protein

OCRL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	OCRL	Q01968	RAB1B	Homo sapiens	Q9H0U4	GMS	21378754
Intra	OCRL	Q01968	RAB1B	Homo sapiens	Q9H0U4	Anti Tag CoIP	25107275
Intra	OCRL	Q01968	RAB6A	Homo sapiens	P20340	Pull Down	16902405
Intra	OCRL	Q01968	RAB6A	Homo sapiens	P20340	Anti Tag CoIP	25107275
Intra	OCRL	Q01968	RAB6A	Homo sapiens	P20340	GMS	21378754
Intra	OCRL	Q01968	RAB6A	Homo sapiens	P20340	FPS	21378754
Intra	OCRL	Q01968	RAB6A	Homo sapiens	P20340	ELISA	16902405
Intra	OCRL	Q01968	RAB6A	Homo sapiens	P20340	Anti Tag CoIP	33961781
Intra	OCRL	Q01968	RAB14	Homo sapiens	P61106	ELISA	16902405
Intra	OCRL	Q01968	RAB14	Homo sapiens	P61106	Pull Down	16902405
Intra	OCRL	Q01968	CLTC	Homo sapiens	Q00610	Anti Tag CoIP	25107275
Intra	OCRL	Q01968	CLTC	Homo sapiens	Q00610	Pull Down	16902405
Intra	OCRL	Q01968	RAB5A	Homo sapiens	P20339	Pull Down	16902405
Intra	OCRL	Q01968	RAB5A	Homo sapiens	P20339	Imaging	16902405
Intra	OCRL	Q01968	RAB5A	Homo sapiens	P20339	Anti Tag CoIP	25107275
Intra	OCRL	Q01968	RAB5A	Homo sapiens	P20339	ELISA	16902405
Intra	OCRL	Q01968	RAB5A	Homo sapiens	P20339	Y2H	16902405
Intra	OCRL	Q01968	RAB5A	Homo sapiens	P20339	FPS	21378754
Intra	OCRL	Q01968	RAC1	Homo sapiens	P63000	IF	12915445
Intra	OCRL	Q01968	RAC1	Homo sapiens	P63000	Pull Down	12915445
Intra	OCRL	Q01968	RAB1A	Homo sapiens	P62820	Y2H	16902405
Intra	OCRL	Q01968	RAB1A	Homo sapiens	P62820	Pull Down	16902405
Intra	OCRL	Q01968	RAB1A	Homo sapiens	P62820	ELISA	16902405
Intra	OCRL	Q01968	RAB1A	Homo sapiens	P62820	Anti Tag CoIP	25107275
Intra	OCRL	Q01968	RAB8A	Homo sapiens	P61006	ELISA	16902405
Intra	OCRL	Q01968	RAB8A	Homo sapiens	P61006	Y2H	16902405
Intra	OCRL	Q01968	RAB8A	Homo sapiens	P61006	FPS	21378754
Intra	OCRL	Q01968	RAB8A	Homo sapiens	P61006	GMS	21378754
Intra	OCRL	Q01968	RAB8A	Homo sapiens	P61006	Pull Down	16902405
Intra	OCRL	Q01968	PHETA1	Homo sapiens	Q8N4B1	Anti Tag CoIP	33961781
Intra	OCRL	Q01968	PHETA1	Homo sapiens	Q8N4B1	Anti Tag CoIP	35271311
Intra	OCRL	Q01968	PHETA1	Homo sapiens	Q8N4B1	Anti Tag CoIP	25107275
Cross	OCRL	Q01968	Cltc	Mus musculus	Q68FD5	Pull Down	25107275
Intra	OCRL	Q01968	SNX9	Homo sapiens	Q9Y5X1	Anti Tag CoIP	25107275
Cross	OCRL	Q01968	Snx9	Mus musculus	Q91VH2	Pull Down	25107275
Cross	OCRL	Q01968	Cltc	Rattus norvegicus	P11442	Pull Down	19536138

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Dent Disease 2	Dent Disease Type 2 DENT2 Dent Disease, Type 2
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Rickets	Vitamin D Deficiency Vitamin D Active Rickets Hypovitaminosis D Nutritional Rickets Vitamin D Deficiency Disease Vitamin-D Deficiency Rickets Vitamin D-Dependent Rickets Avitaminosis D Infantile Osteomalacia Juvenile Osteomalacia
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Cataract-Glaucoma	Cataract-Glaucoma Syndrome
Nephrocalcinosis	Hypercalcemic Nephropathy
Lens Disease	Lens Diseases
Ablepharon-Macrostomia Syndrome	Ablepharon Macrostomia Syndrome AMS Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies Eye Abnormalities
Hypophosphatemia	Vitamin D-Resistant Rickets Hereditary Hypophosphatemic Rickets Vdrr Vitamin D Resistant Rickets Hypophosphatemic Rickets, X-Linked Dominant Familial Hypophosphatemic Rickets
Donnai-Barrow Syndrome	Faciooculoacousticorenal Syndrome Dbs/Foar Syndrome Foar Syndrome Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome Facio-Oculo-Acoustico-Renal Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome Holmes-Schepens Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness DBS Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss Donnai Barrow Syndrome
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Aminoaciduria
Bardet-Biedl Syndrome 5	BBS5 Bardet-Biedl Syndrome, Type 5
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Rickets X-Linked Recessive Hypophosphatemic Rickets XLRHR Hypophosphatemic Rickets Disorders Rickets Hypophosphatemic Rickets, Hypophosphatemic, X-Linked Recessive Familial Hypophosphatemic Rickets
Legionnaire Disease	Legionnaires' Disease Legionnaires Disease Legionnaire Disease, Susceptibility To Legionella Legionella Pneumonia Infection By Legionella Pneumophilia Legionnaire'S Disease Legionellosis Legionaire Disease, Susceptibility To Legionnaires Pneumonia
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hereditary Hypophosphatemic Rickets With Hypercalciuria HHRH Hypophosphatemic Rickets With Hypercalciuria Hypercalciuric Rickets
Legionellosis	Legionella Infection Pontiac Fever Legionnaires' Disease Infection By Legionella Pneumophilia Legionella Pneumophila Infection
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Cystinosis	Cystine Storage Disease Cystine Diathesis Cystine Disease Cystinoses Protein Defect Of Cystin Transport Cystin Transport, Protein Defect Of Nephropathic Cystinosis Protein Defect Of Cystine Transport
Stereotypic Movement Disorder	Stereotypy Habit Disorder Stereotyped Repetitive Movements Stereotyped Disorder Stereotypes Nos Stereotype Habit Disorder
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120354	YU142670	Inhibitor	99.50%	Unkown
HY-117087	K103	Inducer	/	Unkown
HY-RS09746	OCRL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	OCRL	VGNC	VGNC:44095
Rattus norvegicus	OCRL	RGD	RGD:1594526
Felis catus	OCRL	VGNC	VGNC:68616
Mus musculus	OCRL	MGD	MGI:109589
Macaca mulatta	OCRL	VGNC	VGNC:75577
Bos taurus	OCRL	VGNC	VGNC:32398
Others	OCRL	NCBI