Showing entry for Cystinosin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT004911
Protein NameCystinosin
Uniport IdO60931
GeneCTNS
Gene Id1497
DomainPQ-loop
Pfam PF04193  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
4. Cellular Processes 4.1 Transport and catabolism hsa04142 Lysosome
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007628 adult walking behavior
Biological Process GO:0046034 ATP metabolic process
Biological Process GO:0007420 brain development
Biological Process GO:0006520 cellular amino acid metabolic process
Biological Process GO:0050890 cognition
Biological Process GO:0006749 glutathione metabolic process
Biological Process GO:0007625 grooming behavior
Biological Process GO:0006811 ion transport
Biological Process GO:0015811 L-cystine transport
Biological Process GO:0002088 lens development in camera-type eye
Biological Process GO:0007616 long-term memory
Biological Process GO:0042438 melanin biosynthetic process
Biological Process GO:0010730 negative regulation of hydrogen peroxide biosynthetic process
Biological Process GO:0010918 positive regulation of mitochondrial membrane potential
Biological Process GO:0055085 transmembrane transport
Biological Process GO:0008542 visual learning
molecular function GO:0015184 L-cystine transmembrane transporter activity
cellular component GO:0070062 extracellular exosome
cellular component GO:0016021 integral component of membrane
cellular component GO:0045111 intermediate filament cytoskeleton
cellular component GO:0043231 intracellular membrane-bounded organelle
cellular component GO:0005770 late endosome
cellular component GO:0005765 lysosomal membrane
cellular component GO:0005764 lysosome
cellular component GO:0042470 melanosome
cellular component GO:0005886 plasma membrane
cellular component GO:0005774 vacuolar membrane
Reactome
Pathway Id Pathway Name
R-HSA-382551 Transport of small molecules
R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-5223345 Miscellaneous transport and binding events
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0005940 BXGD000352 Bone Diseases Musculoskeletal Diseases
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011175 BXGD000701 Dehydration Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System 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
C0017979 BXGD001159 Glycosuria Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0020619 BXGD001447 Hypogonadism Endocrine System Diseases
C0020620 BXGD001448 Hypohidrosis Skin and Connective Tissue Diseases
C0020621 BXGD001449 Hypokalemia Nutritional and Metabolic Diseases
C0020625 BXGD001451 Hyponatremia Nutritional and Metabolic Diseases
C0021364 BXGD001500 Male infertility Male Urogenital Diseases
C0022658 BXGD001570 Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0032617 BXGD002367 Polyuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035579 BXGD002560 Rickets Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0085078 BXGD003118 Lysosomal Storage Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0085166 BXGD003136 Bacterial Vaginosis Female Urogenital Diseases and Pregnancy Complications; Infections
C0085602 BXGD003199 Polydipsia Pathological Conditions, Signs and Symptoms
C0085636 BXGD003218 Photophobia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0085682 BXGD003238 Hypophosphatemia Nutritional and Metabolic Diseases
C0151721 BXGD003465 Testicular hypogonadism Endocrine System Diseases
C0151747 BXGD003471 Renal tubular disorder Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0155119 BXGD003773 Recurrent erosion of cornea Pathological Conditions, Signs and Symptoms; Eye Diseases
C0162835 BXGD003989 Hypopigmentation disorder Skin and Connective Tissue Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0238621 BXGD004947 Aminoaciduria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0239937 BXGD005008 Microscopic hematuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0262361 BXGD005229 Growth abnormality
C0267963 BXGD005796 Exocrine pancreatic insufficiency Digestive System Diseases
C0268626 BXGD006015 Juvenile nephropathic cystinosis (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
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
C0339528 BXGD007261 X-linked retinitis pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0341703 BXGD007419 Adult Fanconi syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0349588 BXGD007933 Short stature
C0392525 BXGD008052 Nephrolithiasis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0456070 BXGD008863 Growth delay
C0541764 BXGD009259 Delayed bone age
C0541794 BXGD009262 Skeletal muscle atrophy
C0576093 BXGD009525 Knee joint valgus deformity Musculoskeletal Diseases
C0686353 BXGD009833 Muscular Dystrophies, Limb-Girdle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0857576 BXGD011154 Abnormality of thyroid physiology
C0948163 BXGD011511 Leukoaraiosis Pathological Conditions, Signs and Symptoms
C1096610 BXGD011634 Corneal crystalline deposits
C1142132 BXGD011733 Carnitine deficiency
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1704375 BXGD013551 Hypophosphatemic Rickets Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C1839606 BXGD014389 Low-molecular-weight proteinuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1847868 BXGD014893 Generalized aminoaciduria
C1849039 BXGD014999 Metaphyseal widening
C1854838 BXGD015438 Progressive neurologic deterioration Mental Disorders
C1857395 BXGD015701 De Toni-Debre-Fanconi Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1857644 BXGD015728 Retinal pigment epithelial mottling
C1859516 BXGD015905 Episodic metabolic acidosis Nutritional and Metabolic Diseases
C1867873 BXGD016473 Failure to thrive in infancy
C1962966 BXGD016678 Retinopathy, CTCAE
C1969073 BXGD016753 Hyperchloremic metabolic acidosis
C2316810 BXGD017030 Chronic kidney disease stage 5 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2749685 BXGD017632 CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
C2919142 BXGD017867 Short Stature, CTCAE
C2931013 BXGD017936 Cystinosis, benign, nonnephropathic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C2931187 BXGD017971 Nephropathic cystinosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3278401 BXGD018739 Hypopigmentation of hair
C3495426 BXGD018983 Homocysteinemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C3537440 BXGD019081 Cystinosis, Infantile Nephropathic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C4022035 BXGD020878 Abnormality of vitamin D metabolism
C4022592 BXGD020932 Oral motor hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4025623 BXGD021699 Elevated intracellular cystine
C4025732 BXGD021764 Tubulointerstitial abnormality
C4316899 BXGD022710 Cystinosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C4316995 BXGD022715 Primary Hypothyroidism Endocrine System Diseases
C4551565 BXGD023353 Rachitic rosary Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0024228 Cystine 240.02
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