Q920H4
Gene name |
Chrm5 |
Protein name |
Muscarinic acetylcholine receptor M5 |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:213788 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q920H4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q920H4-F1 | Predicted | AlphaFoldDB |
43 variants for Q920H4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs260101493 | 4 | E>K | No | EVA | |
| rs3388573575 | 8 | N>K | No | EVA | |
| rs3388565580 | 18 | N>S | No | EVA | |
| rs3388581541 | 66 | N>Y | No | EVA | |
| rs3388575475 | 82 | F>S | No | EVA | |
| rs3392068073 | 120 | N>I | No | EVA | |
| rs27491507 | 141 | K>E | No | EVA | |
| rs3388574394 | 178 | V>L | No | EVA | |
| rs3388568774 | 196 | G>V | No | EVA | |
| rs3388573552 | 197 | T>S | No | EVA | |
| rs3388581534 | 200 | A>T | No | EVA | |
| rs3388579963 | 212 | L>I | No | EVA | |
| rs3388578354 | 219 | E>* | No | EVA | |
| rs3388576231 | 225 | K>N | No | EVA | |
| rs213307027 | 247 | R>G | No | EVA | |
| rs3388576267 | 250 | L>H | No | EVA | |
| rs27491509 | 265 | V>E | No | EVA | |
| rs3388565622 | 281 | T>M | No | EVA | |
| rs253804788 | 288 | T>I | No | EVA | |
| rs3388570738 | 298 | E>V | No | EVA | |
| rs3388572479 | 316 | T>I | No | EVA | |
| rs225868438 | 317 | T>P | No | EVA | |
| rs27491511 | 325 | C>Y | No | EVA | |
| rs240724475 | 327 | N>K | No | EVA | |
| rs3388574443 | 328 | E>* | No | EVA | |
| rs27491512 | 341 | E>K | No | EVA | |
| rs266009596 | 350 | R>P | No | EVA | |
| rs3388571019 | 352 | E>D | No | EVA | |
| rs242494550 | 358 | T>A | No | EVA | |
| rs3388568838 | 360 | K>N | No | EVA | |
| rs3388579221 | 369 | H>N | No | EVA | |
| rs3388568757 | 371 | L>F | No | EVA | |
| rs3388568760 | 395 | N>I | No | EVA | |
| rs27491513 | 398 | R>H | No | EVA | |
| rs250844137 | 419 | D>G | No | EVA | |
| rs3388568790 | 438 | R>K | No | EVA | |
| rs3411667649 | 445 | S>N | No | EVA | |
| rs3388573593 | 454 | T>A | No | EVA | |
| rs3388565657 | 469 | D>N | No | EVA | |
| rs3388581468 | 482 | W>R | No | EVA | |
| rs3388581466 | 508 | L>Q | No | EVA | |
| rs3412746965 | 508 | L>V | No | EVA | |
| rs3388573596 | 516 | K>R | No | EVA |
2 associated diseases with Q920H4
[MIM: 137750]: Glaucoma 1, open angle, A (GLC1A)
A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:10196380, ECO:0000269|PubMed:10330365, ECO:0000269|PubMed:10340788, ECO:0000269|PubMed:10644174, ECO:0000269|PubMed:10798654, ECO:0000269|PubMed:10819638, ECO:0000269|PubMed:10873982, ECO:0000269|PubMed:10916185, ECO:0000269|PubMed:10980537, ECO:0000269|PubMed:11004290, ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:12189160, ECO:0000269|PubMed:12356829, ECO:0000269|PubMed:12362081, ECO:0000269|PubMed:12442283, ECO:0000269|PubMed:12860809, ECO:0000269|PubMed:12872267, ECO:0000269|PubMed:15025728, ECO:0000269|PubMed:15255110, ECO:0000269|PubMed:15534471, ECO:0000269|PubMed:15795224, ECO:0000269|PubMed:16401791, ECO:0000269|PubMed:17210859, ECO:0000269|PubMed:17499207, ECO:0000269|PubMed:25524706, ECO:0000269|PubMed:9005853, ECO:0000269|PubMed:9328473, ECO:0000269|PubMed:9345106, ECO:0000269|PubMed:9361308, ECO:0000269|PubMed:9490287, ECO:0000269|PubMed:9510647, ECO:0000269|PubMed:9521427, ECO:0000269|PubMed:9535666, ECO:0000269|PubMed:9697688, ECO:0000269|PubMed:9792882, ECO:0000269|PubMed:9863594}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 231300]: Glaucoma 3, primary congenital, A (GLC3A)
An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:15733270}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270). {ECO:0000269|PubMed:15733270}.
Without disease ID
- A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:10196380, ECO:0000269|PubMed:10330365, ECO:0000269|PubMed:10340788, ECO:0000269|PubMed:10644174, ECO:0000269|PubMed:10798654, ECO:0000269|PubMed:10819638, ECO:0000269|PubMed:10873982, ECO:0000269|PubMed:10916185, ECO:0000269|PubMed:10980537, ECO:0000269|PubMed:11004290, ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:12189160, ECO:0000269|PubMed:12356829, ECO:0000269|PubMed:12362081, ECO:0000269|PubMed:12442283, ECO:0000269|PubMed:12860809, ECO:0000269|PubMed:12872267, ECO:0000269|PubMed:15025728, ECO:0000269|PubMed:15255110, ECO:0000269|PubMed:15534471, ECO:0000269|PubMed:15795224, ECO:0000269|PubMed:16401791, ECO:0000269|PubMed:17210859, ECO:0000269|PubMed:17499207, ECO:0000269|PubMed:25524706, ECO:0000269|PubMed:9005853, ECO:0000269|PubMed:9328473, ECO:0000269|PubMed:9345106, ECO:0000269|PubMed:9361308, ECO:0000269|PubMed:9490287, ECO:0000269|PubMed:9510647, ECO:0000269|PubMed:9521427, ECO:0000269|PubMed:9535666, ECO:0000269|PubMed:9697688, ECO:0000269|PubMed:9792882, ECO:0000269|PubMed:9863594}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:15733270}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270). {ECO:0000269|PubMed:15733270}.
No regional properties for Q920H4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q920H4 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| extracellularly glycine-gated chloride channel activity | Enables the transmembrane transfer of a chloride ion by a channel that opens when glycine is bound by the channel complex or one of its constituent parts on the extracellular side of the plasma membrane. |
| G protein-coupled acetylcholine receptor activity | Combining with acetylcholine and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| G protein-coupled serotonin receptor activity | Combining with the biogenic amine serotonin and transmitting the signal across the membrane by activating an associated G-protein. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway | An adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor, and ending with the regulation of a downstream cellular process. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| dopamine transport | The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. |
| G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide. |
| gastric acid secretion | The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. |
| regulation of phosphatidylinositol dephosphorylation | Any process that modulates the frequency, rate or extent of the chemical reaction involving the removal of one or more phosphate groups from a phosphatidylinositol. |
| transmission of nerve impulse | The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P30546 | HRH1 | Histamine H1 receptor | Bos taurus (Bovine) | PR |
| P41984 | CHRM3 | Muscarinic acetylcholine receptor M3 | Bos taurus (Bovine) | PR |
| P41985 | CHRM2 | Muscarinic acetylcholine receptor M2 | Bos taurus (Bovine) | PR |
| P17200 | CHRM4 | Muscarinic acetylcholine receptor M4 | Gallus gallus (Chicken) | PR |
| P49578 | CHRM3 | Muscarinic acetylcholine receptor M3 | Gallus gallus (Chicken) | PR |
| P30372 | CHRM2 | Muscarinic acetylcholine receptor M2 | Gallus gallus (Chicken) | PR |
| Q5IS53 | CHRM5 | Muscarinic acetylcholine receptor M5 | Pan troglodytes (Chimpanzee) | PR |
| P35367 | HRH1 | Histamine H1 receptor | Homo sapiens (Human) | PR |
| P08172 | CHRM2 | Muscarinic acetylcholine receptor M2 | Homo sapiens (Human) | PR |
| P11229 | CHRM1 | Muscarinic acetylcholine receptor M1 | Homo sapiens (Human) | PR |
| P20309 | CHRM3 | Muscarinic acetylcholine receptor M3 | Homo sapiens (Human) | PR |
| P08173 | CHRM4 | Muscarinic acetylcholine receptor M4 | Homo sapiens (Human) | PR |
| P08912 | CHRM5 | Muscarinic acetylcholine receptor M5 | Homo sapiens (Human) | PR |
| P12657 | Chrm1 | Muscarinic acetylcholine receptor M1 | Mus musculus (Mouse) | PR |
| P32211 | Chrm4 | Muscarinic acetylcholine receptor M4 | Mus musculus (Mouse) | PR |
| P70174 | Hrh1 | Histamine H1 receptor | Mus musculus (Mouse) | PR |
| Q9ERZ3 | Chrm3 | Muscarinic acetylcholine receptor M3 | Mus musculus (Mouse) | PR |
| Q9ERZ4 | Chrm2 | Muscarinic acetylcholine receptor M2 | Mus musculus (Mouse) | PR |
| Q64264 | Htr1a | 5-hydroxytryptamine receptor 1A | Mus musculus (Mouse) | PR |
| P97292 | Hrh2 | Histamine H2 receptor | Mus musculus (Mouse) | PR |
| Q91ZY2 | Hrh4 | Histamine H4 receptor | Mus musculus (Mouse) | PR |
| P04761 | CHRM1 | Muscarinic acetylcholine receptor M1 | Sus scrofa (Pig) | PR |
| P31390 | Hrh1 | Histamine H1 receptor | Rattus norvegicus (Rat) | PR |
| P08483 | Chrm3 | Muscarinic acetylcholine receptor M3 | Rattus norvegicus (Rat) | PR |
| P08482 | Chrm1 | Muscarinic acetylcholine receptor M1 | Rattus norvegicus (Rat) | PR |
| P08911 | Chrm5 | Muscarinic acetylcholine receptor M5 | Rattus norvegicus (Rat) | PR |
| P56489 | CHRM1 | Muscarinic acetylcholine receptor M1 | Macaca mulatta (Rhesus macaque) | PR |
| P56490 | CHRM5 | Muscarinic acetylcholine receptor M5 | Macaca mulatta (Rhesus macaque) | PR |
| Q9U7D5 | gar-3 | Muscarinic acetylcholine receptor gar-3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGESYHNET | TVNGTPVNHQ | ALERHGLWEV | ITIAAVTAVV | SLMTIVGNVL | VMISFKVNSQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKTVNNYYLL | SLACADLIIG | IFSMNLYTTY | ILMGRWVLGS | LACDLWLALD | YVASNASVMN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLVISFDRYF | SITRPLTYRA | KRTPKRAGIM | IGLAWLVSFI | LWAPAILCWQ | YLVGKRTVPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DECQIQFLSE | PTITFGTAIA | AFYIPVSVMT | ILYCRIYRET | EKRTKDLADL | QGSDSVAEVK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KRKPAHRTLL | RSFFSCPRPS | LAQRVRNQAS | WSSSRRSTST | TGKPTQATDL | SADWEKAEQV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TNCSSCPSSE | DEAKATTDPV | FQVVCKNEAK | ESPGKEFNTQ | ETKETFVSPR | TENNDYDTPK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YFLSPGAAHR | LKSQKCVAYK | FRLVVKADGT | QETNNGCRKV | KIMPCSFPVS | KDPSTKGLDP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HLSHQMTKRK | RMVLVKERKA | AQTLSAILLA | FIITWTPYNI | MVLVSTFCDK | CVPVTLWHLG |
| 490 | 500 | 510 | 520 | 530 | |
| YWLCYVNSTI | NPICYALCNR | TFRKTFKLLL | LCRWKKKKVE | EKLYWQGNSK | LP |