Showing entry for Poly(U)-binding-splicing factor PUF60


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT021707
Protein NamePoly(U)-binding-splicing factor PUF60
Uniport IdQ9UHX1
GenePUF60
Gene Id22827
DomainRRM_1
Pfam PF00076  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
2. Genetic Information Processing 2.1 Transcription hsa03040 Spliceosome
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0000380 alternative mRNA splicing, via spliceosome
Biological Process GO:0006915 apoptotic process
Biological Process GO:0006376 mRNA splice site selection
Biological Process GO:0000398 mRNA splicing, via spliceosome
Biological Process GO:0000381 regulation of alternative mRNA splicing, via spliceosome
molecular function GO:0045296 cadherin binding
molecular function GO:0003677 DNA binding
molecular function GO:0042802 identical protein binding
molecular function GO:0003723 RNA binding
cellular component GO:0030054 cell junction
cellular component GO:0005654 nucleoplasm
Reactome
Pathway Id Pathway Name
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA
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
C0002418 BXGD000112 Amblyopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0003492 BXGD000198 Aortic coarctation Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006131 BXGD000373 Branchioma Neoplasms
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0009363 BXGD000599 Congenital ocular coloboma (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011633 BXGD000742 Dermatomyositis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System 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
C0013528 BXGD000851 Echolalia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014859 BXGD000961 Esophageal Neoplasms Digestive System Diseases; Neoplasms
C0015310 BXGD000976 Exotropia Eye Diseases; Nervous System Diseases
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0017181 BXGD001103 Gastrointestinal Hemorrhage Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0018798 BXGD001223 Congenital Heart Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018816 BXGD001234 Heart Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019163 BXGD001295 Hepatitis B Digestive System Diseases; Infections
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0020490 BXGD001403 Hyperopia Eye Diseases
C0020555 BXGD001431 Hypertrichosis Skin and Connective Tissue Diseases
C0024141 BXGD001740 Lupus Erythematosus, Systemic Skin and Connective Tissue Diseases; Immune System Diseases
C0025500 BXGD001874 Mesothelioma 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
C0025995 BXGD001885 Micromelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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
C0027092 BXGD001971 Myopia Eye Diseases
C0027121 BXGD001973 Myositis Musculoskeletal Diseases; Nervous System Diseases
C0027540 BXGD001996 Necrosis Pathological Conditions, Signs and Symptoms
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027659 BXGD002012 Neoplasms, Experimental Neoplasms
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036690 BXGD002632 Septicemia Pathological Conditions, Signs and Symptoms; Infections
C0037293 BXGD002684 Skin tag Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases
C0037299 BXGD002685 Skin Ulcer Skin and Connective Tissue Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0039101 BXGD002790 synovial sarcoma Neoplasms
C0040115 BXGD002841 Thymus Hyperplasia Hemic and Lymphatic Diseases
C0041207 BXGD002898 Truncus Arteriosus, Persistent Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0042580 BXGD002992 Vesico-Ureteral Reflux Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0079924 BXGD003103 Oligohydramnios Female Urogenital Diseases and Pregnancy Complications
C0080174 BXGD003106 Spina Bifida Occulta Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0085077 BXGD003117 Sweet Syndrome Skin and Connective Tissue Diseases
C0085655 BXGD003226 Polymyositis Musculoskeletal Diseases; Nervous System Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0086981 BXGD003317 Sicca Syndrome Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases
C0152018 BXGD003518 Esophageal carcinoma Digestive System Diseases; Neoplasms
C0152427 BXGD003590 Polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0158779 BXGD003908 Cervical rib
C0206733 BXGD004278 Strawberry nevus of skin Neoplasms
C0221056 BXGD004383 Adult type dermatomyositis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0221209 BXGD004405 Pelvic kidney
C0232466 BXGD004543 Feeding difficulties
C0234632 BXGD004691 Reduced visual acuity Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0240063 BXGD005015 Coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0240896 BXGD005059 Fundus coloboma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0241816 BXGD005115 Global brain atrophy
C0243026 BXGD005210 Sepsis Pathological Conditions, Signs and Symptoms; Infections
C0265610 BXGD005555 Clinodactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265677 BXGD005564 Congenital hemivertebra Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265881 BXGD005583 Congenital hypoplasia of aortic arch Cardiovascular Diseases
C0266030 BXGD005609 Supernumerary mesiodens tooth Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0266294 BXGD005644 Unilateral agenesis of kidney Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0266295 BXGD005645 Congenital hypoplasia of kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0267963 BXGD005796 Exocrine pancreatic insufficiency Digestive System Diseases
C0268800 BXGD006041 Simple renal cyst Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0278076 BXGD006493 Behavioral tic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0338502 BXGD007192 Hypoplasia of the optic nerve Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0345354 BXGD007728 Radial polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0345375 BXGD007730 Congenital hypoplasia of femur Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0349588 BXGD007933 Short stature
C0406645 BXGD008360 Amyopathic dermatomyositis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0410000 BXGD008406 Overlap syndrome Skin and Connective Tissue Diseases; Immune System Diseases
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0424731 BXGD008542 Single transverse palmar crease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0426429 BXGD008564 Broad nasal tip
C0426790 BXGD008577 Narrow thorax
C0428883 BXGD008639 Diastolic blood pressure
C0431478 BXGD008692 Posteriorly rotated ear
C0431692 BXGD008703 Bilateral renal hypoplasia
C0432072 BXGD008718 Dysmorphic features
C0454641 BXGD008848 Expressive language delay
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0521525 BXGD009139 Short neck
C0542519 BXGD009279 Congenital absence of kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0546837 BXGD009343 Malignant neoplasm of esophagus Digestive System Diseases; Neoplasms
C0548883 BXGD009356 Low frustration tolerance Behavior and Behavior Mechanisms
C0557874 BXGD009444 Global developmental delay
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0685695 BXGD009813 Abnormal lung lobation Respiratory Tract Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0751356 BXGD010406 Idiopathic Inflammatory Myopathies Musculoskeletal Diseases; Nervous System Diseases
C0812413 BXGD010847 Malignant Pleural Mesothelioma Neoplasms; Respiratory Tract Diseases
C1142533 BXGD011758 Smooth philtrum
C1168239 BXGD011783 Asymmetry of the ears
C1168401 BXGD011792 Squamous cell carcinoma of the head and neck Neoplasms
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1269955 BXGD012005 Tumor Cell Invasion
C1301937 BXGD012300 Talipes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1389018 BXGD012963 Atrioventricular Septal Defect Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1445953 BXGD013080 Poor eye contact Mental Disorders
C1527336 BXGD013271 Sjogren's Syndrome Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases
C1578482 BXGD013427 Valgus deformities of feet Musculoskeletal Diseases
C1609433 BXGD013438 Congenital absence of kidneys syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1691215 BXGD013491 Penile hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1827524 BXGD013773 Wide spaced nipples
C1832127 BXGD013800 Square face
C1834060 BXGD013954 Short middle phalanx of the 5th finger
C1837260 BXGD014214 Prominent forehead
C1839546 BXGD014385 Microretrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1839758 BXGD014402 Narrow forehead
C1842878 BXGD014543 Short 5th finger
C1843496 BXGD014588 Bilateral microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1846061 BXGD014781 Infancy onset short-trunk short stature
C1847514 BXGD014868 Postnatal microcephaly
C1849025 BXGD014997 Oval face
C1849367 BXGD015046 Nasal bridge wide
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1853487 BXGD015340 Thick eyebrow
C1853738 BXGD015357 Long eyelashes
C1854114 BXGD015383 Short nose
C1854409 BXGD015398 Naevus flammeus of the eyelid Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1855728 BXGD015536 Low posterior hairline
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
C1857278 BXGD015690 Partial or complete agenesis of corpus callosum
C1857790 BXGD015748 Thoracic scoliosis Musculoskeletal Diseases
C1858091 BXGD015771 Long fingers
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1865014 BXGD016282 Long philtrum
C1865017 BXGD016283 Thin upper lip vermilion
C1865992 BXGD016359 Short hallux
C1866207 BXGD016387 Dysplastic aortic valve
C1866231 BXGD016388 Full cheeks
C1868571 BXGD016508 Highly arched eyebrow
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2919142 BXGD017867 Short Stature, CTCAE
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C3150613 BXGD018311 Long toe
C3250443 BXGD018584 MYOTONIC DYSTROPHY 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3278509 BXGD018742 Spinal fusion
C3279571 BXGD018763 Ectopic posterior pituitary
C3540764 BXGD019092 Coloboma of the Retina Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3714796 BXGD019434 Isolated somatotropin deficiency
C3810023 BXGD019630 VERHEIJ SYNDROME
C3887499 BXGD019884 Renal cyst Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C4023343 BXGD021159 Nasogastric tube feeding in infancy
C4023411 BXGD021182 Hemifacial hypoplasia Pathological Conditions, Signs and Symptoms
C4024165 BXGD021293 Prominent ear helix
C4073246 BXGD022067 Abnormal cricoid cartilage morphology
C4280276 BXGD022379 Cleft alveolar process of maxilla
C4551485 BXGD023312 Clinodactyly
C4551487 BXGD023313 Submucous cleft palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C4551563 BXGD023351 Microcephaly (physical finding)
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003705 Chloride 35.45
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