Showing entry for Nucleosome-remodeling factor subunit BPTF


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT013268
Protein NameNucleosome-remodeling factor subunit BPTF
Uniport IdQ12830
GeneBPTF
Gene Id2186
DomainBromodomain; DDT; PHD; WSD
Pfam PF00439   PF02791   PF00628   PF15613  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0009952 anterior/posterior pattern specification
Biological Process GO:0007420 brain development
Biological Process GO:0006338 chromatin remodeling
Biological Process GO:0001892 embryonic placenta development
Biological Process GO:0007492 endoderm development
Biological Process GO:0000122 negative regulation of transcription by RNA polymerase II
Biological Process GO:0042766 nucleosome mobilization
Biological Process GO:0045944 positive regulation of transcription by RNA polymerase II
Biological Process GO:0006357 regulation of transcription by RNA polymerase II
molecular function GO:0046872 metal ion binding
molecular function GO:0035064 methylated histone binding
molecular function GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
molecular function GO:0043565 sequence-specific DNA binding
molecular function GO:0008134 transcription factor binding
cellular component GO:0005737 cytoplasm
cellular component GO:0070062 extracellular exosome
cellular component GO:0000790 nuclear chromatin
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:0016589 NURF complex
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001807 BXGD000077 Aggressive behavior Behavior and Behavior Mechanisms
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0005684 BXGD000319 Malignant neoplasm of urinary bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005695 BXGD000323 Bladder Neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005890 BXGD000345 Body Height
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0008297 BXGD000522 Choanal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
C0010674 BXGD000683 Cystic Fibrosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
C0013274 BXGD000809 Patent ductus arteriosus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0015310 BXGD000976 Exotropia Eye Diseases; Nervous System Diseases
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017638 BXGD001132 Glioma Neoplasms
C0018524 BXGD001200 Hallucinations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0023462 BXGD001654 Acute Megakaryocytic Leukemias Neoplasms
C0025202 BXGD001832 melanoma Neoplasms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026351 BXGD001900 Moderate intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026691 BXGD001917 Mucocutaneous Lymph Node Syndrome Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0029899 BXGD002180 Otosclerosis Otorhinolaryngologic Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033860 BXGD002438 Psoriasis Skin and Connective Tissue Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037317 BXGD002689 Sleep disturbances Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0041834 BXGD002935 Erythema Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085633 BXGD003216 Mood swings Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151878 BXGD003495 Prolonged QT interval Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152423 BXGD003587 Congenital small ears Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
C0158465 BXGD003887 Acquired cubitus valgus
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0200638 BXGD004043 Eosinophil count procedure
C0200641 BXGD004044 Blood basophil count (lab test)
C0205682 BXGD004105 Waist-Hip Ratio
C0221263 BXGD004427 Cafe-au-Lait Spots Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0232466 BXGD004543 Feeding difficulties
C0232940 BXGD004569 Secondary physiologic amenorrhea Pathological Conditions, Signs and Symptoms
C0240543 BXGD005042 Bulbous nose
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241210 BXGD005086 Speech Delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0265610 BXGD005555 Clinodactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0267963 BXGD005796 Exocrine pancreatic insufficiency Digestive System Diseases
C0271183 BXGD006169 Severe myopia Eye Diseases
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0279632 BXGD006663 Adult Acute Megakaryoblastic Leukemia Neoplasms
C0279650 BXGD006673 Childhood Acute Megakaryoblastic Leukemia Neoplasms
C0344541 BXGD007691 Persistent pupillary membranes Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0349588 BXGD007933 Short stature
C0392885 BXGD008071 High density lipoprotein measurement
C0401151 BXGD008274 Chronic diarrhea Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423112 BXGD008472 Short palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0425957 BXGD008555 Secondary amenorrhea Pathological Conditions, Signs and Symptoms
C0426415 BXGD008560 Large nose
C0426429 BXGD008564 Broad nasal tip
C0426891 BXGD008595 Broad thumbs
C0431352 BXGD008669 Secondary microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0431447 BXGD008690 Synophrys Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0431663 BXGD008700 Bilateral Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0432072 BXGD008718 Dysmorphic features
C0454641 BXGD008848 Expressive language delay
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0476089 BXGD008977 Endometrial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0518026 BXGD009069 body fat percentage (physical finding)
C0521525 BXGD009139 Short neck
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0575802 BXGD009521 Small hand
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0678230 BXGD009750 Congenital Epicanthus
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0747085 BXGD010158 Recurrent otitis media Otorhinolaryngologic Diseases
C0856975 BXGD011127 Autistic behavior Behavior and Behavior Mechanisms
C0920299 BXGD011465 Overriding toe Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0948163 BXGD011511 Leukoaraiosis Pathological Conditions, Signs and Symptoms
C1269955 BXGD012005 Tumor Cell Invasion
C1305855 BXGD012348 Body mass index
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1335411 BXGD012786 Cyst of pineal gland Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C1335729 BXGD012808 Refractory Neoplasm
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1834055 BXGD013953 Underdeveloped nasal alae
C1835884 BXGD014061 Triangular face
C1836923 BXGD014178 Gastrointestinal dysmotility
C1837397 BXGD014227 Severe global developmental delay
C1837406 BXGD014230 Hypoplasia involving bones of the upper limbs
C1837733 BXGD014262 Broad lateral eyebrow
C1839259 BXGD014363 Bulbo-Spinal Atrophy, X-Linked Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1839739 BXGD014400 Thick lower lip vermilion
C1839798 BXGD014410 Long nose
C1840069 BXGD014433 Sandal gap
C1842060 BXGD014491 Prominent supraorbital ridges
C1843367 BXGD014576 Poor school performance
C1844734 BXGD014670 Hemihypotrophy of lower limb
C1844820 BXGD014681 Range of joint movement increased
C1845123 BXGD014714 Generalized neonatal hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1849367 BXGD015046 Nasal bridge wide
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1851085 BXGD015191 Severe expressive language delay
C1851883 BXGD015244 Small, conical teeth
C1852504 BXGD015287 Misalignment of teeth
C1853242 BXGD015322 Midface retrusion
C1853487 BXGD015340 Thick eyebrow
C1853638 BXGD015349 Broad neck
C1855285 BXGD015483 Protruding ear
C1856119 BXGD015577 Low hanging columella
C1857482 BXGD015706 Slender finger
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861324 BXGD016029 Short philtrum
C1861325 BXGD016030 Progressive conductive hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1865017 BXGD016283 Thin upper lip vermilion
C1867131 BXGD016440 Broad hallux
C1867873 BXGD016473 Failure to thrive in infancy
C1956257 BXGD016623 Pulmonary Stenosis Cardiovascular Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2315100 BXGD017021 Pediatric failure to thrive Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
C2673431 BXGD017202 Abnormality of the periventricular white matter Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3714796 BXGD019434 Isolated somatotropin deficiency
C4012968 BXGD020124 Mild global developmental delay
C4021168 BXGD020573 Slender toe
C4021601 BXGD020693 Premature eruption of permanent teeth
C4021744 BXGD020751 Abnormality of the wrist
C4022873 BXGD021024 Small pituitary gland
C4023249 BXGD021150 Patent ductus arteriosus after birth at term Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4023408 BXGD021181 Abnormality of mouth size
C4023691 BXGD021245 Abnormality of pain sensation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4023701 BXGD021248 Impaired visuospatial constructive cognition
C4024855 BXGD021442 Lack of subcutaneous fatty tissue
C4024956 BXGD021499 Grammar-specific speech disorder Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4024963 BXGD021505 Abnormal aggressive, impulsive or violent behavior Behavior and Behavior Mechanisms
C4025139 BXGD021565 Fifth finger distal phalanx clinodactyly
C4025660 BXGD021715 Abnormality of the ankles
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4524268 BXGD023104 Advanced lung cancer
C4540327 BXGD023254 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
C4551485 BXGD023312 Clinodactyly
C4551560 BXGD023349 Truncal obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C4551563 BXGD023351 Microcephaly (physical finding)
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0000441 Dimethyl sulfoxide 78.13
BXGC0004266 2-Propanol 60.1
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