Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1H6E | 3.6 | MU2 ADAPTIN SUBUNIT (AP50) OF AP2 ADAPTOR (SECOND DOMAIN), COMPLEXED WITH CTLA-4 INTERNALIZATION PEPTIDE TTGVYVKMPPT |
| 6BNT | 3.2 | Crystal structure of AP2 mu1 adaptin C-terminal domain with IRS-1 peptide |
| 6URI | 3.0 | HIV-1 Nef in complex with the CD4 cytoplasmic domain and the AP2 clathrin adaptor complex |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0072583 | clathrin-dependent endocytosis |
| Biological Process | GO:0006886 | intracellular protein transport |
| Biological Process | GO:1903077 | negative regulation of protein localization to plasma membrane |
| Biological Process | GO:0002092 | positive regulation of receptor internalization |
| Biological Process | GO:1900244 | positive regulation of synaptic vesicle endocytosis |
| Biological Process | GO:0098884 | postsynaptic neurotransmitter receptor internalization |
| Biological Process | GO:0065003 | protein-containing complex assembly |
| Biological Process | GO:0031623 | receptor internalization |
| Biological Process | GO:0097494 | regulation of vesicle size |
| Biological Process | GO:0048488 | synaptic vesicle endocytosis |
| Biological Process | GO:0006900 | vesicle budding from membrane |
| Biological Process | GO:0016192 | vesicle-mediated transport |
| Molecular Function | GO:0035615 | clathrin adaptor activity |
| Molecular Function | GO:0097718 | disordered domain specific binding |
| Molecular Function | GO:0008289 | lipid binding |
| Molecular Function | GO:0050750 | low-density lipoprotein particle receptor binding |
| Molecular Function | GO:0005048 | signal sequence binding |
| Molecular Function | GO:0044325 | transmembrane transporter binding |
| Cellular Component | GO:0030122 | AP-2 adaptor complex |
| Cellular Component | GO:0045334 | clathrin-coated endocytic vesicle |
| Cellular Component | GO:0030669 | clathrin-coated endocytic vesicle membrane |
| Cellular Component | GO:0005905 | clathrin-coated pit |
| Cellular Component | GO:0009898 | cytoplasmic side of plasma membrane |
| Cellular Component | GO:0031410 | cytoplasmic vesicle |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0030666 | endocytic vesicle membrane |
| Cellular Component | GO:0036020 | endolysosome membrane |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0098894 | extrinsic component of presynaptic endocytic zone membrane |
| Cellular Component | GO:0098978 | glutamatergic synapse |
| Cellular Component | GO:0005765 | lysosomal membrane |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0098794 | postsynapse |
| InterPro
|
InterPro name |
|---|---|
| IPR001392 | Clathrin adaptor, mu subunit |
| IPR011012 | Longin-like domain superfamily |
| IPR018240 | Clathrin adaptor, mu subunit, conserved site |
| IPR022775 | AP complex, mu/sigma subunit |
| IPR028565 | Mu homology domain |
| IPR036168 | AP-2 complex subunit mu, C-terminal superfamily |
| IPR043512 | Mu2, C-terminal domain |
| IPR043532 | AP-2 complex subunit mu, N-terminal |
| Pfam
|
Pfam name |
|---|---|
| PF00928 | Adaptor complexes medium subunit family |
| PF01217 | Clathrin adaptor complex small chain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-164939 | Nef mediated downregulation of CD28 cell surface expression | Leaf | R-HSA-1643685 | Disease |
| R-HSA-167590 | Nef Mediated CD4 Down-regulation | Leaf | R-HSA-1643685 | Disease |
| R-HSA-177504 | Retrograde neurotrophin signalling | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-182218 | Nef Mediated CD8 Down-regulation | Leaf | R-HSA-1643685 | Disease |
| R-HSA-190873 | Gap junction degradation | Internal node | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-196025 | Formation of annular gap junctions | Leaf | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-2132295 | MHC class II antigen presentation | Leaf | R-HSA-168256 | Immune System |
| R-HSA-3928665 | EPH-ephrin mediated repulsion of cells | Leaf | R-HSA-1266738 | Developmental Biology |
| R-HSA-416993 | Trafficking of GluR2-containing AMPA receptors | Leaf | R-HSA-112316 | Neuronal System |
| R-HSA-437239 | Recycling pathway of L1 | Leaf | R-HSA-1266738 | Developmental Biology |
| R-HSA-5099900 | WNT5A-dependent internalization of FZD4 | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-5140745 | WNT5A-dependent internalization of FZD2, FZD5 and ROR2 | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis | Leaf | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-8856828 | Clathrin-mediated endocytosis | Internal node | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-8866427 | VLDLR internalisation and degradation | Leaf | R-HSA-382551 | Transport of small molecules |
| R-HSA-8964038 | LDL clearance | Leaf | R-HSA-382551 | Transport of small molecules |
| R-HSA-9679191 | Potential therapeutics for SARS | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell membrane | ECO:0000269 | PubMed:31104773 |
| Membrane, coated pit | ECO:0000269 | PubMed:31104773 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000154 | Wide mouth |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000252 | Microcephaly |
| HP:0000289 | Broad philtrum |
| HP:0000343 | Long philtrum |
| HP:0000431 | Wide nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0000568 | Microphthalmia |
| HP:0000729 | Autistic behavior |
| HP:0000735 | Impaired social interactions |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| HP:0001159 | Syndactyly |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001326 | EEG with irregular generalized spike and wave complexes |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001999 | Abnormal facial shape |
| HP:0002066 | Gait ataxia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002072 | Chorea |
| HP:0002078 | Truncal ataxia |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002292 | Frontal balding |
| HP:0002317 | Unsteady gait |
| HP:0002332 | Lack of peer relationships |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0002392 | EEG with polyspike wave complexes |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007270 | Atypical absence seizure |
| HP:0007359 | Focal-onset seizure |
| HP:0009928 | Thick nasal alae |
| HP:0010819 | Atonic seizure |
| HP:0010845 | EEG with generalized slow activity |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0011097 | Epileptic spasm |
| HP:0011149 | Absence seizure with eyelid myoclonia |
| HP:0011170 | Generalized myoclonic-atonic seizure |
| HP:0011171 | Simple febrile seizure |
| HP:0011182 | Interictal epileptiform activity |
| HP:0011197 | EEG with focal spike waves |
| HP:0011220 | Prominent forehead |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset |
| HP:0100678 | Premature skin wrinkling |
| HP:0100851 | Abnormal emotion/affect behavior |
| HP:0200134 | Epileptic encephalopathy |
| HP:0410263 | Brain imaging abnormality |
| HP:0430028 | Hyperplasia of the maxilla |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| autism | MONDO:0005260 | F84 | chapter5, Mental and behavioural disorders | OMIM:209850 | |
| autism | MONDO:0005260 | F84 | chapter5, Mental and behavioural disorders | OMIMPS:209850 | |
| myoclonic-astastic epilepsy | MONDO:0016025 | G40 | chapter6, Diseases of the nervous system | Orphanet:1942 | |
| intellectual developmental disorder 60 with seizures | MONDO:0032823 | F70 | chapter5, Mental and behavioural disorders | OMIM:618587 |