Showing entry for Inositol polyphosphate 5-phosphatase OCRL-1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT012626
Protein NameInositol polyphosphate 5-phosphatase OCRL-1
Uniport IdQ01968
GeneOCRL
Gene Id4952
DomainExo_endo_phos; OCRL_clath_bd; RhoGAP
Pfam PF03372   PF16726   PF00620  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.1 Carbohydrate metabolism hsa00562 Inositol phosphate metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
3. Environmental Information Processing 3.2 Signal transduction hsa04070 Phosphatidylinositol signaling system
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0060271 cilium assembly
Biological Process GO:0046855 inositol phosphate dephosphorylation
Biological Process GO:0043647 inositol phosphate metabolic process
Biological Process GO:0001701 in utero embryonic development
Biological Process GO:0006629 lipid metabolic process
Biological Process GO:0061024 membrane organization
Biological Process GO:0006661 phosphatidylinositol biosynthetic process
Biological Process GO:0046856 phosphatidylinositol dephosphorylation
Biological Process GO:0043087 regulation of GTPase activity
Biological Process GO:0051056 regulation of small GTPase mediated signal transduction
Biological Process GO:0007165 signal transduction
molecular function GO:0005096 GTPase activator activity
molecular function GO:0052659 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity
molecular function GO:0052658 inositol-1,4,5-trisphosphate 5-phosphatase activity
molecular function GO:0052745 inositol phosphate phosphatase activity
molecular function GO:0004445 inositol-polyphosphate 5-phosphatase activity
molecular function GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
molecular function GO:0048365 Rac GTPase binding
cellular component GO:0005905 clathrin-coated pit
cellular component GO:0030136 clathrin-coated vesicle
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0005769 early endosome
cellular component GO:0031901 early endosome membrane
cellular component GO:0005798 Golgi-associated vesicle
cellular component GO:0005795 Golgi stack
cellular component GO:0005764 lysosome
cellular component GO:0016020 membrane
cellular component GO:0005634 nucleus
cellular component GO:0030670 phagocytic vesicle membrane
cellular component GO:0001750 photoreceptor outer segment
cellular component GO:0005886 plasma membrane
cellular component GO:0005802 trans-Golgi network
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-1483255 PI Metabolism
R-HSA-1483257 Phospholipid metabolism
R-HSA-162582 Signal Transduction
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-194315 Signaling by Rho GTPases
R-HSA-194840 Rho GTPase cycle
R-HSA-199991 Membrane Trafficking
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-556833 Metabolism of lipids
R-HSA-5653656 Vesicle-mediated transport
R-HSA-8856828 Clathrin-mediated endocytosis
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001807 BXGD000077 Aggressive behavior Behavior and Behavior Mechanisms
C0002418 BXGD000112 Amblyopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003864 BXGD000231 Arthritis Musculoskeletal Diseases
C0004144 BXGD000259 Atelectasis Respiratory Tract Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004509 BXGD000275 Azoospermia Male Urogenital Diseases
C0007971 BXGD000509 Cheilitis Stomatognathic Diseases
C0009024 BXGD000578 Clonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009691 BXGD000622 Congenital cataract Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
C0010038 BXGD000643 Corneal Opacity Eye Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010709 BXGD000689 Cyst Pathological Conditions, Signs and Symptoms; Neoplasms
C0011175 BXGD000701 Dehydration Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0011334 BXGD000716 Dental caries Stomatognathic Diseases
C0011351 BXGD000717 Dental Enamel Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011848 BXGD000750 Diabetes Insipidus Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014761 BXGD000947 Erythroblastosis, Fetal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015624 BXGD001005 Fanconi Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0015625 BXGD001006 Fanconi Anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0016663 BXGD001071 Pathological fracture Wounds and Injuries
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0017574 BXGD001122 Gingivitis Infections; Stomatognathic Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0018965 BXGD001258 Hematuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0020302 BXGD001373 Hydrophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0020428 BXGD001377 Hyperaldosteronism Endocrine System Diseases
C0020438 BXGD001382 Hypercalciuria Pathological Conditions, Signs and Symptoms
C0020443 BXGD001385 Hypercholesterolemia Nutritional and Metabolic Diseases
C0020502 BXGD001410 Hyperparathyroidism Endocrine System Diseases
C0020621 BXGD001449 Hypokalemia Nutritional and Metabolic Diseases
C0020625 BXGD001451 Hyponatremia Nutritional and Metabolic Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023860 BXGD001708 Listeriosis Infections
C0024523 BXGD001781 Malabsorption Syndrome Digestive System Diseases; Nutritional and Metabolic Diseases
C0025362 BXGD001866 Mental Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0027709 BXGD002026 Nephrocalcinosis Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0028860 BXGD002093 Oculocerebrorenal Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
C0028880 BXGD002097 Odontogenic Tumors Neoplasms
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0031099 BXGD002282 Periodontitis Stomatognathic Diseases
C0033687 BXGD002415 Proteinuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0034012 BXGD002449 Delayed Puberty Endocrine System Diseases
C0035078 BXGD002505 Kidney Failure Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035579 BXGD002560 Rickets Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037286 BXGD002681 Skin Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C0037299 BXGD002685 Skin Ulcer Skin and Connective Tissue Diseases
C0038271 BXGD002742 Stereotyped Behavior Behavior and Behavior Mechanisms
C0038273 BXGD002743 Stereotypic Movement Disorder Mental Disorders
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0040433 BXGD002865 Tooth Crowding Stomatognathic Diseases
C0085271 BXGD003148 Self-Injurious Behavior Behavior and Behavior Mechanisms
C0085682 BXGD003238 Hypophosphatemia Nutritional and Metabolic Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151491 BXGD003428 Congenital musculoskeletal anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0151811 BXGD003478 Subcutaneous nodule Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0152031 BXGD003524 Joint swelling Pathological Conditions, Signs and Symptoms
C0154936 BXGD003758 Pupillary abnormality Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0158113 BXGD003875 Contracture of joint of hand Musculoskeletal Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0232874 BXGD004567 Febrile proteinuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234632 BXGD004691 Reduced visual acuity Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0238621 BXGD004947 Aminoaciduria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0239174 BXGD004969 Late tooth eruption
C0239598 BXGD004988 Swelling of finger
C0240379 BXGD005033 Open mouth (finding)
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0241760 BXGD005111 Wrist swelling
C0266039 BXGD005612 Taurodontism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0266061 BXGD005618 Open Bite Stomatognathic Diseases
C0266617 BXGD005700 Congenital anomaly of face Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0268435 BXGD005945 Renal Tubular Acidosis, Type II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0268731 BXGD006029 Renal glomerular disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0271441 BXGD006203 Chronic otitis media Otorhinolaryngologic Diseases
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0282201 BXGD006799 Phosphate Diabetes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0341703 BXGD007419 Adult Fanconi syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0347509 BXGD007857 Benign neoplasm of central nervous system Neoplasms; Nervous System Diseases
C0349588 BXGD007933 Short stature
C0392525 BXGD008052 Nephrolithiasis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0423867 BXGD008517 Fine hair
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0431718 BXGD008708 Multiple renal cysts Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0521707 BXGD009166 Bilateral cataracts (disorder) Eye Diseases
C0557874 BXGD009444 Global developmental delay
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0600104 BXGD009690 Obsessive compulsive behavior Behavior and Behavior Mechanisms
C0740927 BXGD010017 Elevated maternal serum alpha-fetoprotein
C0812435 BXGD010849 Chromosome 11p deletion syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
C0853877 BXGD010981 Fistula of genitourinary tract Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0878681 BXGD011387 Dent's disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0973461 BXGD011595 Dysphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1136249 BXGD011715 Mental Retardation, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1398312 BXGD012999 Narrow palate
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1561643 BXGD013363 Chronic Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1622439 BXGD013471 Lentiglobus
C1836047 BXGD014074 Long face
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1837249 BXGD014210 Malformations of Cortical Development, Group II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1837352 BXGD014223 Childhood onset
C1837402 BXGD014228 Flat occiput
C1839603 BXGD014388 Proximal tubulopathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1839606 BXGD014389 Low-molecular-weight proteinuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1839797 BXGD014409 Deep philtrum
C1839858 BXGD014418 Periventricular cysts
C1839860 BXGD014419 Elevated amniotic fluid alpha-fetoprotein
C1839865 BXGD014420 Bicarbonaturia
C1839866 BXGD014421 Elevated serum acid phosphatase Nutritional and Metabolic Diseases
C1842083 BXGD014494 Abnormality of the ribs
C1844704 BXGD014665 Platyspondyly
C1845167 BXGD014722 Dent Disease 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1845977 BXGD014769 X- linked recessive
C1848201 BXGD014914 Subcortical Band Heterotopia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1848336 BXGD014919 Dent disease 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1849923 BXGD015088 Generalized hypopigmentation Skin and Connective Tissue Diseases
C1853246 BXGD015323 Eversion of lower lip
C1855285 BXGD015483 Protruding ear
C1857042 BXGD015669 Sparse scalp hair
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1857395 BXGD015701 De Toni-Debre-Fanconi Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1858430 BXGD015792 Death in infancy
C1865014 BXGD016282 Long philtrum
C1865017 BXGD016283 Thin upper lip vermilion
C1866231 BXGD016388 Full cheeks
C1963165 BXGD016685 Malabsorption, CTCAE
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2713392 BXGD017497 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3278923 BXGD018748 Dilated ventricles (finding)
C3553764 BXGD019187 Joint hyperflexibility
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714745 BXGD019427 Malabsorption Digestive System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3805574 BXGD019481 Increased fracture rate
C3806482 BXGD019514 Recurrent respiratory infections Infections; Respiratory Tract Diseases
C3887650 BXGD019911 Adult Rickets Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C4021611 BXGD020697 Abnormality of epiphysis morphology
C4021776 BXGD020772 Abnormality of the voice
C4021786 BXGD020779 Atypical scarring of skin Pathological Conditions, Signs and Symptoms
C4021800 BXGD020790 Abnormality of dental enamel
C4021801 BXGD020791 Lacrimation abnormality
C4022041 BXGD020879 Hypoammonemia
C4023815 BXGD021270 Oligosacchariduria
C4024202 BXGD021303 Reduced number of teeth
C4024767 BXGD021412 Dense posterior cortical cataract
C4024809 BXGD021425 Chorioretinal dysplasia
C4025814 BXGD021806 Abnormality of the metaphysis
C4305529 BXGD022593 Dent disease type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C4521256 BXGD023058 Glomerulopathy Assessment
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0002588 Magnesium 24.31
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein