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

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Localized to the stereocilia of the cochlear hair cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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