Showing entry for Structural maintenance of chromosomes flexible hinge domain-containing protein 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT024875
Protein NameStructural maintenance of chromosomes flexible hinge domain-containing protein 1
Uniport IdA6NHR9
GeneSMCHD1
Gene Id23347
DomainHATPase_c_3; SMC_hinge
Pfam PF06470  
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:0009048 dosage compensation by inactivation of X chromosome
Biological Process GO:0006302 double-strand break repair
Biological Process GO:0070868 heterochromatin organization involved in chromatin silencing
Biological Process GO:0060821 inactivation of X chromosome by DNA methylation
Biological Process GO:0060820 inactivation of X chromosome by heterochromatin assembly
Biological Process GO:2000042 negative regulation of double-strand break repair via homologous recombination
Biological Process GO:0043584 nose development
Biological Process GO:0045739 positive regulation of DNA repair
Biological Process GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining
molecular function GO:0016887 ATPase activity
molecular function GO:0005524 ATP binding
molecular function GO:0003677 DNA binding
molecular function GO:0042803 protein homodimerization activity
cellular component GO:0001740 Barr body
cellular component GO:0035861 site of double-strand break
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0002418 BXGD000112 Amblyopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0003119 BXGD000177 Anophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0003126 BXGD000180 Anosmia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005890 BXGD000345 Body Height
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0008297 BXGD000522 Choanal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009363 BXGD000599 Congenital ocular coloboma (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0018418 BXGD001192 Gynecomastia Skin and Connective Tissue Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020619 BXGD001447 Hypogonadism Endocrine System Diseases
C0021051 BXGD001475 Immunologic Deficiency Syndromes Immune System Diseases
C0023418 BXGD001642 leukemia Neoplasms
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0026850 BXGD001942 Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0033626 BXGD002412 Protein Deficiency Nutritional and Metabolic Diseases
C0085581 BXGD003192 Restrictive lung disease Respiratory Tract Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0162285 BXGD003928 Edema of eyelid Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases
C0220810 BXGD004346 Congenital defects
C0231616 BXGD004502 Beevor's sign
C0232939 BXGD004568 Primary physiologic amenorrhea Pathological Conditions, Signs and Symptoms
C0238288 BXGD004905 Muscular Dystrophy, Facioscapulohumeral Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0240063 BXGD005015 Coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240701 BXGD005050 Small penis
C0240953 BXGD005067 Winged scapula
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0265740 BXGD005572 Arrhinia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266435 BXGD005668 Congenital hypoplasia of penis Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266551 BXGD005693 Congenital coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0302142 BXGD006831 Deformity Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0333307 BXGD006946 Superficial ulcer Pathological Conditions, Signs and Symptoms
C0376544 BXGD008001 Hematopoietic Neoplasms Neoplasms; Hemic and Lymphatic Diseases
C0410192 BXGD008415 Muscular Dystrophy, Scapulohumeral Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0424448 BXGD008529 Mask-like facies Nervous System Diseases
C0432072 BXGD008718 Dysmorphic features
C0432103 BXGD008722 Submucous cleft of hard palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0432442 BXGD008790 Chromosome 18p deletion syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0476403 BXGD008992 Electromyogram abnormal
C0541794 BXGD009262 Skeletal muscle atrophy
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0596887 BXGD009648 mathematical ability
C0598766 BXGD009669 Leukemogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0685682 BXGD009812 Single naris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C1332206 BXGD012504 Adult Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332977 BXGD012569 Childhood Leukemia Neoplasms
C1332979 BXGD012571 Childhood Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1387005 BXGD012953 Penis agenesis Male Urogenital Diseases
C1834671 BXGD013985 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1834673 BXGD013986 Facioscapulohumeral muscular dystrophy 1a Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1852504 BXGD015287 Misalignment of teeth
C1853242 BXGD015322 Midface retrusion
C1854114 BXGD015383 Short nose
C1863878 BXGD016202 Arhinia, choanal atresia, and microphthalmia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C1866141 BXGD016379 Foot dorsiflexor weakness
C2364082 BXGD017123 Sense of smell impaired Nervous System Diseases
C2675111 BXGD017272 Abnormal eyelash morphology
C3665346 BXGD019278 Unspecified visual loss Pathological Conditions, Signs and Symptoms; Eye Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3665386 BXGD019284 Abnormal vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3887524 BXGD019892 Skin Erosion Skin and Connective Tissue Diseases
C4020963 BXGD020513 Absent nares
C4021527 BXGD020654 Abdominal wall muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C4021811 BXGD020797 Abnormality of the midface
C4025056 BXGD021537 Failure of eruption of permanent teeth Stomatognathic Diseases
C4049796 BXGD021951 Abnormality of cardiovascular system morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4477049 BXGD022910 Hypoplasia of the olfactory bulb
C4551488 BXGD023314 Bifid uvula
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
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