ACHD_HUMAN
Evidence for PS localization
Functions
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. [View more on UniProt]
Protein features
Binary interactions with known binding regions
Interacting region for partners were not defined.
Network
Isoforms
Disease-causing germline mutations
No data found.
Linear motifs
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Fingerprint
Molecular function
| Term | Name | % | Distance from the top of the tree | Annotated in ACHD_HUMAN |
|---|---|---|---|---|
| GO:0005216 | ion channel activity | 36.3636 | 4 | yes |
| GO:0008324 | cation transmembrane transporter activity | 36.3636 | 4 | yes |
| GO:0015267 | channel activity | 36.3636 | 4 | yes |
| GO:0022836 | gated channel activity | 36.3636 | 5 | yes |
| GO:0022890 | inorganic cation transmembrane transporter activity | 36.3636 | 4 | yes |
| GO:0005230 | extracellular ligand-gated ion channel activity | 27.2727 | 6 | yes |
| GO:0005231 | excitatory extracellular ligand-gated ion channel activity | 27.2727 | 7 | yes |
| GO:0005261 | cation channel activity | 27.2727 | 5 | yes |
| GO:0015276 | ligand-gated ion channel activity | 27.2727 | 5 | yes |
| GO:0022824 | transmitter-gated ion channel activity | 27.2727 | 5 | yes |
| GO:0022834 | ligand-gated channel activity | 27.2727 | 6 | yes |
| GO:0022835 | transmitter-gated channel activity | 27.2727 | 4 | yes |
| GO:0022848 | acetylcholine-gated cation-selective channel activity | 27.2727 | 7 | yes |
| GO:0098960 | postsynaptic neurotransmitter receptor activity | 27.2727 | 4 | yes |
| GO:0099094 | ligand-gated cation channel activity | 27.2727 | 6 | yes |
| GO:0099529 | neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential | 27.2727 | 5 | yes |
| GO:1904315 | transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential | 27.2727 | 6 | yes |
| GO:0046872 | metal ion binding | 27.2727 | 4 | no |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in ACHD_HUMAN |
|---|---|---|---|---|
| GO:0007268 | chemical synaptic transmission | 45.4545 | 6 | yes |
| GO:0098916 | anterograde trans-synaptic signaling | 45.4545 | 5 | yes |
| GO:0099537 | trans-synaptic signaling | 45.4545 | 4 | yes |
| GO:0048522 | positive regulation of cellular process | 45.4545 | 4 | no |
| GO:0006811 | ion transport | 36.3636 | 4 | yes |
| GO:0010646 | regulation of cell communication | 36.3636 | 4 | no |
| GO:0008104 | protein localization | 36.3636 | 4 | no |
| GO:0009893 | positive regulation of metabolic process | 27.2727 | 4 | no |
| GO:0031323 | regulation of cellular metabolic process | 27.2727 | 4 | no |
| GO:0031325 | positive regulation of cellular metabolic process | 27.2727 | 5 | no |
| GO:0071702 | organic substance transport | 27.2727 | 4 | no |
| GO:0010647 | positive regulation of cell communication | 27.2727 | 5 | no |
| GO:0023056 | positive regulation of signaling | 27.2727 | 4 | no |
| GO:0003009 | skeletal muscle contraction | 18.1818 | 6 | yes |
| GO:0006936 | muscle contraction | 18.1818 | 4 | yes |
| GO:0006941 | striated muscle contraction | 18.1818 | 5 | yes |
| GO:0050905 | neuromuscular process | 18.1818 | 4 | yes |
Disease
| Term | Name | % | Distance from top the of the tree | Annotated in ACHD_HUMAN |
|---|---|---|---|---|
| DOID:3635 | congenital myasthenic syndrome | 18.1818 | 7 | no |
| DOID:439 | neuromuscular junction disease | 18.1818 | 6 | no |
| DOID:440 | neuromuscular disease | 18.1818 | 5 | no |
| DOID:574 | peripheral nervous system disease | 18.1818 | 3 | no |
| DOID:870 | neuropathy | 18.1818 | 4 | no |
All partners
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| ACHA_HUMAN | [view entry] [view interactions] | Low throughput | yes | no |
| CALX_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| P_HUMAN | [view interactions] | High throughput | no | no |
| ST7L_HUMAN | [view interactions] | High throughput | no | no |
| CNNM1_HUMAN | [view interactions] | High throughput | no | yes |
| SPPL3_HUMAN | [view interactions] | High throughput | no | no |
| S12A4_HUMAN | [view interactions] | High throughput | no | yes |
| MRP7_HUMAN | [view interactions] | High throughput | no | yes |
| WLS_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| S47A1_HUMAN | [view interactions] | High throughput | no | no |
| ATG9A_HUMAN | [view interactions] | High throughput | no | yes |
| TMTC3_HUMAN | [view interactions] | High throughput | no | yes |
| ALG9_HUMAN | [view interactions] | High throughput | no | yes |
| LCLT1_HUMAN | [view interactions] | High throughput | no | no |
| EDA_HUMAN | [view interactions] | High throughput | no | no |
| K2013_HUMAN | [view interactions] | High throughput | no | yes |
| ST7_HUMAN | [view interactions] | High throughput | no | yes |
| DHRS7_HUMAN | [view interactions] | High throughput | no | yes |
| TUSC3_HUMAN | [view interactions] | High throughput | no | yes |
| ERGI3_HUMAN | [view interactions] | High throughput | no | yes |
| F189B_HUMAN | [view interactions] | High throughput | no | no |
| CA043_HUMAN | [view interactions] | High throughput | no | yes |
| TMPPE_HUMAN | [view interactions] | High throughput | no | yes |
| ATF6B_HUMAN | [view interactions] | High throughput | no | yes |
| CCPG1_HUMAN | [view interactions] | High throughput | no | yes |
| ACHA5_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| HMDH_HUMAN | [view interactions] | High throughput | no | yes |
| PLPL6_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| S12A9_HUMAN | [view interactions] | High throughput | no | yes |
| TMM18_HUMAN | [view interactions] | High throughput | no | yes |
| YIF1A_HUMAN | [view interactions] | High throughput | no | yes |
| SCNNA_HUMAN | [view interactions] | High throughput | no | yes |
| RETST_HUMAN | [view interactions] | High throughput | no | yes |
| SYVN1_HUMAN | [view interactions] | High throughput | no | yes |
| RNF5_HUMAN | [view interactions] | High throughput | no | yes |
| HYEP_HUMAN | [view interactions] | High throughput | no | no |
| CLCN3_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| GPX8_HUMAN | [view interactions] | High throughput | no | no |
| FITM2_HUMAN | [view interactions] | High throughput | no | no |
| ABCA3_HUMAN | [view interactions] | High throughput | no | yes |
| BT2A2_HUMAN | [view interactions] | High throughput | no | no |
| PKD2_HUMAN | [view interactions] | High throughput | no | yes |
| POMT2_HUMAN | [view interactions] | High throughput | no | yes |
| FA8A1_HUMAN | [view interactions] | High throughput | no | yes |
| E2AK3_HUMAN | [view interactions] | High throughput | no | yes |
| GPC5B_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| TYW1_HUMAN | [view interactions] | High throughput | no | yes |
| TM39A_HUMAN | [view interactions] | High throughput | no | yes |
| DJC18_HUMAN | [view interactions] | High throughput | no | yes |
| SC11C_HUMAN | [view interactions] | High throughput | no | no |
| PXL2A_HUMAN | [view interactions] | High throughput | no | yes |
| APOL2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ERGI2_HUMAN | [view interactions] | High throughput | no | yes |
| SPP2B_HUMAN | [view interactions] | High throughput | no | yes |
| PDZD8_HUMAN | [view interactions] | High throughput | no | yes |
| CISD2_HUMAN | [view interactions] | High throughput | no | yes |
| D19L4_HUMAN | [view interactions] | High throughput | no | no |
| S27A3_HUMAN | [view interactions] | High throughput | no | no |
| SGCB_HUMAN | [view interactions] | High throughput | no | no |
| ERG1_HUMAN | [view interactions] | High throughput | no | no |
| SEC20_HUMAN | [view interactions] | High throughput | no | yes |
| SRBP2_HUMAN | [view interactions] | High throughput | no | yes |
| MFAP3_HUMAN | [view interactions] | High throughput | no | yes |
| BI1_HUMAN | [view interactions] | High throughput | no | yes |
| TPST2_HUMAN | [view interactions] | High throughput | no | yes |
| EXTL3_HUMAN | [view interactions] | High throughput | no | yes |
| PLPR3_HUMAN | [view interactions] | High throughput | no | no |
| SIDT2_HUMAN | [view interactions] | High throughput | no | yes |
| MUSK_HUMAN | [view entry] [view interactions] | Computational | yes | no |
| RAPSN_HUMAN | [view entry] [view interactions] | Computational | yes | no |
| DOK7_HUMAN | [view interactions] | Computational | no | yes |