Showing entry for AP-4 complex subunit mu-1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT003891
Protein NameAP-4 complex subunit mu-1
Uniport IdO00189
GeneAP4M1
Gene Id9179
DomainAdap_comp_sub; Clat_adaptor_s
Pfam PF00928   PF01217  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
4. Cellular Processes 4.1 Transport and catabolism hsa04142 Lysosome
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006895 Golgi to endosome transport
Biological Process GO:0090160 Golgi to lysosome transport
Biological Process GO:0006886 intracellular protein transport
Biological Process GO:0008104 protein localization
Biological Process GO:1903361 protein localization to basolateral plasma membrane
Biological Process GO:0006605 protein targeting
Biological Process GO:0006622 protein targeting to lysosome
Biological Process GO:0016192 vesicle-mediated transport
molecular function GO:0019904 protein domain specific binding
cellular component GO:0030124 AP-4 adaptor complex
cellular component GO:0030131 clathrin adaptor complex
cellular component GO:0031410 cytoplasmic vesicle
cellular component GO:0005829 cytosol
cellular component GO:0005769 early endosome
cellular component GO:0031904 endosome lumen
cellular component GO:0070062 extracellular exosome
cellular component GO:0043231 intracellular membrane-bounded organelle
cellular component GO:0005802 trans-Golgi network
cellular component GO:0032588 trans-Golgi network membrane
Reactome
Pathway Id Pathway Name
R-HSA-199991 Membrane Trafficking
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-5653656 Vesicle-mediated transport
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0002418 BXGD000112 Amblyopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0007789 BXGD000488 Cerebral Palsy Nervous System Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0013132 BXGD000799 Drooling Stomatognathic Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017639 BXGD001133 Gliosis Pathological Conditions, Signs and Symptoms
C0020796 BXGD001468 Profound Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0024433 BXGD001771 Macrostomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0025363 BXGD001867 Mental Retardation, Psychosocial Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0034152 BXGD002467 Henoch-Schoenlein Purpura Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0034935 BXGD002497 Babinski Reflex
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037020 BXGD002659 Shyness Behavior and Behavior Mechanisms
C0037772 BXGD002703 Spastic Paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037773 BXGD002704 Spastic Paraplegia, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0038271 BXGD002742 Stereotyped Behavior Behavior and Behavior Mechanisms
C0038273 BXGD002743 Stereotypic Movement Disorder Mental Disorders
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152235 BXGD003567 Congenital genu recurvatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0158486 BXGD003888 Acquired genu recurvatum Musculoskeletal Diseases
C0231712 BXGD004519 Waddling gait Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0240543 BXGD005042 Bulbous nose
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0349588 BXGD007933 Short stature
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0426970 BXGD008598 Spastic Quadriplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0432072 BXGD008718 Dysmorphic features
C0454596 BXGD008842 Dysarthria, Spastic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0497406 BXGD009064 Overweight Pathological Conditions, Signs and Symptoms
C0546964 BXGD009348 Genu recurvatum
C0557874 BXGD009444 Global developmental delay
C0740279 BXGD009973 Cerebellar atrophy
C0751603 BXGD010521 Autosomal Recessive Hereditary Spastic Paraplegia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0917816 BXGD011419 Mental deficiency Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1261502 BXGD011856 Finding of Mean Corpuscular Hemoglobin
C1314691 BXGD012388 Age at menarche Behavior and Behavior Mechanisms
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1836308 BXGD014107 Generalized joint laxity
C1838579 BXGD014323 Pseudobulbar signs
C1839264 BXGD014364 SPASTIC PARAPLEGIA 2, X-LINKED (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1839758 BXGD014402 Narrow forehead
C1845251 BXGD014734 Facial hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1845847 BXGD014760 Coarse facial features Pathological Conditions, Signs and Symptoms
C1846149 BXGD014786 Intellectual disability, progressive Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1848207 BXGD014916 Poor speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1855483 BXGD015501 Progressive spastic paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861324 BXGD016029 Short philtrum
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2673431 BXGD017202 Abnormality of the periventricular white matter Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2752008 BXGD017753 Spastic Paraplegia-50, Autosomal Recessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C3151056 BXGD018377 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
C3278923 BXGD018748 Dilated ventricles (finding)
C3279738 BXGD018775 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
C3279743 BXGD018776 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
C3554617 BXGD019228 Adducted thumb Musculoskeletal Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3853041 BXGD019819 Severe Congenital Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C4020718 BXGD020472 Wide nasal ridge
C4023698 BXGD021247 Everted upper lip vermilion
C4025616 BXGD021697 CNS hypomyelination
C4551563 BXGD023351 Microcephaly (physical finding)
C4551583 BXGD023361 Cerebral cortical atrophy
C4551584 BXGD023362 Brain atrophy Nervous System Diseases
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4755264 BXGD024088 Severe intellectual disability and progressive spastic paraplegia
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