Showing entry for Obscurin-like protein 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT005102
Protein NameObscurin-like protein 1
Uniport IdO75147
GeneOBSL1
Gene Id23363
DomainI-set
Pfam PF07679  
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:0055003 cardiac myofibril assembly
Biological Process GO:0007010 cytoskeleton organization
Biological Process GO:0007030 Golgi organization
Biological Process GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
Biological Process GO:0000226 microtubule cytoskeleton organization
Biological Process GO:0050775 positive regulation of dendrite morphogenesis
Biological Process GO:0043687 post-translational protein modification
Biological Process GO:0034067 protein localization to Golgi apparatus
Biological Process GO:0007088 regulation of mitotic nuclear division
Biological Process GO:0010842 retina layer formation
Biological Process GO:0007416 synapse assembly
molecular function GO:0008093 cytoskeletal anchor activity
cellular component GO:1990393 3M complex
cellular component GO:0005813 centrosome
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0005794 Golgi apparatus
cellular component GO:0014704 intercalated disc
cellular component GO:0031430 M band
cellular component GO:0048471 perinuclear region of cytoplasm
cellular component GO:0045202 synapse
cellular component GO:0030018 Z disc
Reactome
Pathway Id Pathway Name
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-8951664 Neddylation
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0005890 BXGD000345 Body Height
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine 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
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024636 BXGD001793 Malocclusion Stomatognathic Diseases
C0025995 BXGD001885 Micromelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0175693 BXGD004001 Russell-Silver syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221358 BXGD004450 Long narrow head
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0239174 BXGD004969 Late tooth eruption
C0240543 BXGD005042 Bulbous nose
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0240953 BXGD005067 Winged scapula
C0271561 BXGD006213 Somatotropin deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0349588 BXGD007933 Short stature
C0426789 BXGD008576 Short thorax
C0426818 BXGD008586 Thin rib
C0520927 BXGD009124 Decreased fertility
C0521525 BXGD009139 Short neck
C0541764 BXGD009259 Delayed bone age
C0686353 BXGD009833 Muscular Dystrophies, Limb-Girdle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0848558 BXGD010882 Hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0878659 BXGD011380 Disproportionate short stature Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C1833144 BXGD013898 Slender long bone
C1835884 BXGD014061 Triangular face
C1836542 BXGD014129 Depressed nasal bridge
C1836543 BXGD014130 Thick vermilion border
C1840077 BXGD014434 Anteverted nostril
C1842878 BXGD014543 Short 5th finger
C1844505 BXGD014633 Pointed chin
C1848862 BXGD014979 Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C1849075 BXGD015002 Relative macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1849089 BXGD015004 Broad forehead
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1853242 BXGD015322 Midface retrusion
C1853246 BXGD015323 Eversion of lower lip
C1853487 BXGD015340 Thick eyebrow
C1855285 BXGD015483 Protruding ear
C1856118 BXGD015576 Prominent nasal tip
C1858085 BXGD015770 Malar flattening
C1859447 BXGD015892 Hypoplastic ischia
C1860493 BXGD015987 Abnormality of the sternum
C1860614 BXGD015992 ULNAR HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1864853 BXGD016261 Increased vertebral height
C1865014 BXGD016282 Long philtrum
C1865030 BXGD016288 Hypoplastic pubic bone
C2752041 BXGD017761 Three M Syndrome 2 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C3536734 BXGD019071 Hypoplastic pelvis
C3553764 BXGD019187 Joint hyperflexibility
C3806510 BXGD019515 Horizontal ribs
C4020962 BXGD020512 Enlarged thorax
C4021088 BXGD020547 Prominent calcaneus
C4021386 BXGD020621 Abnormality of the elbow
C4021800 BXGD020790 Abnormality of dental enamel
C4022001 BXGD020863 Abnormality of the cerebral vasculature
C4025814 BXGD021806 Abnormality of the metaphysis
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
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