Q8R4P5
Gene name |
Tmc1 (Bth, dn) |
Protein name |
Transmembrane channel-like protein 1 |
Names |
Beethoven protein, Deafness protein, Transmembrane cochlear-expressed protein 1 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:13409 |
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
2 structures for Q8R4P5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6WUD | X-ray | 184 A | B | 298-352 | PDB |
| AF-Q8R4P5-F1 | Predicted | AlphaFoldDB |
29 variants for Q8R4P5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389530463 | 17 | S>* | No | EVA | |
| rs3389488376 | 92 | E>K | No | EVA | |
| rs3389480230 | 114 | L>I | No | EVA | |
| rs3389439622 | 129 | G>V | No | EVA | |
| rs3389542960 | 154 | F>L | No | EVA | |
| rs3389546473 | 163 | P>T | No | EVA | |
| rs3389536265 | 192 | V>A | No | EVA | |
| rs252513166 | 215 | Y>* | No | EVA | |
| rs3389488329 | 290 | M>T | No | EVA | |
| rs3408022599 | 293 | N>I | No | EVA | |
| rs3409110862 | 294 | I>F | No | EVA | |
| rs3389543017 | 297 | D>V | No | EVA | |
| rs3389530377 | 331 | S>F | No | EVA | |
| rs3389540058 | 374 | G>* | No | EVA | |
| rs3389525884 | 400 | K>N | No | EVA | |
| rs3389542962 | 407 | M>T | No | EVA | |
| 412 | M>K | BTH [UniProt] | No | ||
| rs3389524232 | 437 | L>M | No | EVA | |
| rs3409043426 | 454 | A>T | No | EVA | |
| rs3408963624 | 456 | M>L | No | EVA | |
| rs3389439580 | 492 | S>Y | No | EVA | |
| rs3389543015 | 505 | A>E | No | EVA | |
| rs3389511611 | 506 | D>E | No | EVA | |
| rs3409238678 | 521 | F>I | No | EVA | |
| rs3389536299 | 583 | M>I | No | EVA | |
| rs3389530765 | 615 | C>Y | No | EVA | |
| rs3389536304 | 631 | N>K | No | EVA | |
| rs3389546483 | 647 | P>T | No | EVA | |
| rs3389546508 | 662 | G>E | No | EVA |
2 associated diseases with Q8R4P5
Without disease ID
1 regional properties for Q8R4P5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | TMC domain | 512 - 627 | IPR012496 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| stereocilium tip | A distinct compartment at the tip of a stereocilium, distal to the site of attachment to the apical cell surface. It consists of a dense matrix bridging the barbed ends of the stereocilium actin filaments with the overlying plasma membrane, is dynamic compared to the shaft, and is required for stereocilium elongation. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mechanosensitive ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens in response to a mechanical stress. |
| voltage-gated calcium channel activity | Enables the transmembrane transfer of a calcium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| auditory receptor cell development | The process whose specific outcome is the progression of an auditory receptor cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. |
| calcium ion transmembrane transport | A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| detection of mechanical stimulus involved in sensory perception of sound | The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal. |
| regulation of calcium ion transmembrane transport | Any process that modulates the frequency, rate or extent of calcium ion transmembrane transport. |
| vestibular reflex | A reflex process in which a response to an angular or linear acceleration stimulus begins with an afferent nerve impulse from a receptor in the inner ear and ends with the compensatory action of eye muscles. Signaling never reaches a level of consciousness. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z5M5 | TMC3 | Transmembrane channel-like protein 3 | Homo sapiens (Human) | PR |
| Q8TDI8 | TMC1 | Transmembrane channel-like protein 1 | Homo sapiens (Human) | PR |
| Q7TN58 | Tmc8 | Transmembrane channel-like protein 8 | Mus musculus (Mouse) | PR |
| Q8C428 | Tmc7 | Transmembrane channel-like protein 7 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLQIQVEEKE | EDTEESSSEE | EEDKLPRRES | LRPKRKRTRD | VINEDDPEPE | PEDEETRKAR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EKERRRRLRR | GAEEEEEIDE | EELERLKALL | DENRQMIATV | KCKPWKMEKK | IEVLKEAKKF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSENEGALGK | GKGKKWFAFK | MMMAKKWAKF | LRDFENFKAA | CVPWENKIKA | IESQFGSSVA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SYFLFLRWMY | GVNMVLFVLT | FSLIMLPEYL | WGLPYGSLPR | KTVPRAEEAS | AANFGVLYDF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NGLAQYSVLF | YGYYDNKRTI | GWLNFRLPLS | YFLVGIMCIG | YSFLVVLKAM | TKNIGDDGGG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DDNTFNFSWK | VFCSWDYLIG | NPETADNKFN | SITMNFKEAI | IEERAAQVEE | NIHLIRFLRF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LANFFVFLTL | GASGYLIFWA | VKRSQEFAQQ | DPDTLGWWEK | NEMNMVMSLL | GMFCPTLFDL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FAELEDYHPL | IALKWLLGRI | FALLLGNLYV | FILALMDEIN | NKIEEEKLVK | ANITLWEANM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IKAYNESLSG | LSGNTTGAPF | FVHPADVPRG | PCWETMVGQE | FVRLTVSDVL | TTYVTILIGD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FLRACFVRFC | NYCWCWDLEY | GYPSYTEFDI | SGNVLALIFN | QGMIWMGSFF | APSLPGINIL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RLHTSMYFQC | WAVMCCNVPE | ARVFKASRSN | NFYLGMLLLI | LFLSTMPVLY | MIVSLPPSFD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CGPFSGKNRM | FEVIGETLEH | DFPSWMAKIL | RQLSNPGLVI | AVILVMVLTI | YYLNATAKGQ |
| 730 | 740 | 750 | |||
| KAANLDLKKK | MKQQALENKM | RNKKMAAARA | AAAAGGQ |