Showing entry for Ribosomal RNA small subunit methyltransferase NEP1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019402
Protein NameRibosomal RNA small subunit methyltransferase NEP1
Uniport IdQ92979
GeneEMG1
Gene Id10436
DomainEMG1
Pfam PF03587  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
2. Genetic Information Processing 2.2 Translation hsa03008 Ribosome biogenesis in eukaryotes
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0001824 blastocyst development
Biological Process GO:0017126 nucleologenesis
Biological Process GO:0042274 ribosomal small subunit biogenesis
Biological Process GO:0070475 rRNA base methylation
Biological Process GO:0006364 rRNA processing
molecular function GO:0042802 identical protein binding
molecular function GO:0003723 RNA binding
molecular function GO:0070037 rRNA (pseudouridine) methyltransferase activity
molecular function GO:0019843 rRNA binding
cellular component GO:0005737 cytoplasm
cellular component GO:0005730 nucleolus
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:0032040 small-subunit processome
Reactome
Pathway Id Pathway Name
R-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72312 rRNA processing
R-HSA-72312 rRNA processing
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-8953854 Metabolism of RNA
R-HSA-8953854 Metabolism of RNA
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0007140 BXGD000447 Carcinosarcoma Neoplasms
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0011644 BXGD000744 Scleroderma Skin and Connective Tissue 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
C0019693 BXGD001346 HIV Infections Infections; Immune System Diseases
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
C0027651 BXGD002009 Neoplasms Neoplasms
C0027708 BXGD002025 Nephroblastoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027794 BXGD002036 Neural Tube Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0036421 BXGD002613 Systemic Scleroderma Skin and Connective Tissue Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0206681 BXGD004236 Adenocarcinoma, Clear Cell Neoplasms
C0206687 BXGD004242 Carcinoma, Endometrioid Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0240083 BXGD005017 Abnormal joint morphology Musculoskeletal Diseases
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0349588 BXGD007933 Short stature
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0426415 BXGD008560 Large nose
C0553580 BXGD009399 Ewings sarcoma Neoplasms
C0685695 BXGD009813 Abnormal lung lobation Respiratory Tract Diseases
C0740391 BXGD009987 Middle Cerebral Artery Occlusion Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0878787 BXGD011392 Growth failure
C1281901 BXGD012133 Fatty acid measurement
C1333015 BXGD012581 Childhood Kidney Wilms Tumor Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1569637 BXGD013424 Adenocarcinoma, Endometrioid Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1837397 BXGD014227 Severe global developmental delay
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1855843 BXGD015551 Severe intrauterine growth retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C1857641 BXGD015727 Severe postnatal growth retardation
C1857679 BXGD015735 Sloping forehead
C1858051 BXGD015766 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C1858430 BXGD015792 Death in infancy
C1859405 BXGD015887 Bowen-Conradi syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Behavior and Behavior Mechanisms
C2674608 BXGD017250 Feeding difficulties in infancy
C2919142 BXGD017867 Short Stature, CTCAE
C3278923 BXGD018748 Dilated ventricles (finding)
C4021813 BXGD020799 Oral cleft
C4049796 BXGD021951 Abnormality of cardiovascular system morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4505456 BXGD022964 HIV Coinfection Infections; Immune System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0006198 Citric acid 192.12
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