Q64347
PR
Gene name |
Clcn1 (Clc1) |
Protein name |
Chloride channel protein 1 |
Names |
ClC-1, Chloride channel protein, skeletal muscle |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:12723 |
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 Q64347
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q64347-F1 | Predicted | AlphaFoldDB |
47 variants for Q64347
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3388825681 | 7 | Q>P | No | EVA | |
| rs3388818753 | 41 | G>S | No | EVA | |
| rs218966858 | 52 | P>L | No | EVA | |
| rs3388833398 | 61 | I>K | No | EVA | |
| rs3388810107 | 63 | G>A | No | EVA | |
| rs3388818830 | 66 | K>N | No | EVA | |
| rs239999629 | 78 | M>L | No | EVA | |
| rs3388793027 | 82 | M>I | No | EVA | |
| rs3388826055 | 116 | E>D | No | EVA | |
| rs3396700062 | 178 | F>I | No | EVA | |
| rs3388822280 | 183 | S>Y | No | EVA | |
| rs3388815468 | 200 | G>D | No | EVA | |
| rs3388812709 | 204 | K>N | No | EVA | |
| rs3388821774 | 211 | A>S | No | EVA | |
| rs3388822314 | 215 | K>E | No | EVA | |
| rs3388793055 | 216 | V>A | No | EVA | |
| rs3388818801 | 248 | K>N | No | EVA | |
| rs3388818841 | 262 | Y>C | No | EVA | |
| rs3396747870 | 265 | D>V | No | EVA | |
| rs3388826028 | 283 | L>H | No | EVA | |
| rs3388821769 | 286 | V>E | No | EVA | |
| rs3388822279 | 303 | W>* | No | EVA | |
| rs3388815500 | 312 | S>N | No | EVA | |
| rs3388821845 | 403 | S>L | No | EVA | |
| rs228304736 | 437 | I>V | No | EVA | |
| rs3388822321 | 454 | V>I | No | EVA | |
| rs36383623 | 457 | I>V | No | EVA | |
| rs3395922764 | 465 | V>I | No | EVA | |
| rs3388827630 | 467 | K>N | No | EVA | |
| rs3388815550 | 539 | T>I | No | EVA | |
| rs3388815550 | 539 | T>R | No | EVA | |
| rs3388821758 | 555 | H>Y | No | EVA | |
| rs3388810060 | 579 | D>H | No | EVA | |
| rs3388812696 | 583 | Q>L | No | EVA | |
| rs3388829853 | 615 | F>S | No | EVA | |
| rs3388827647 | 618 | A>D | No | EVA | |
| rs3388815545 | 667 | A>V | No | EVA | |
| rs36671711 | 746 | N>H | No | EVA | |
| rs240015370 | 756 | S>R | No | EVA | |
| rs3388829886 | 757 | H>L | No | EVA | |
| rs3388827598 | 758 | K>E | No | EVA | |
| rs3388827551 | 766 | S>F | No | EVA | |
| rs3388825711 | 827 | I>V | No | EVA | |
| rs3388794443 | 833 | Q>R | No | EVA | |
| rs3388794458 | 877 | E>G | No | EVA | |
| rs213207010 | 944 | A>V | No | EVA | |
| rs3388815541 | 959 | E>G | No | EVA |
No associated diseases with Q64347
1 regional properties for Q64347
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CBS domain | 609 - 668 | IPR000644 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| 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. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| voltage-gated chloride channel activity | Enables the transmembrane transfer of a chloride 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 |
|---|---|
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| neuronal action potential propagation | The propagation of an action potential along an axon, away from the soma. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9MZT1 | CLCN1 | Chloride channel protein 1 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P51788 | CLCN2 | Chloride channel protein 2 | Homo sapiens (Human) | PR |
| P35523 | CLCN1 | Chloride channel protein 1 | Homo sapiens (Human) | PR |
| Q9R0A1 | Clcn2 | Chloride channel protein 2 | Mus musculus (Mouse) | PR |
| P35525 | Clcn2 | Chloride channel protein 2 | Rattus norvegicus (Rat) | PR |
| P35524 | Clcn1 | Chloride channel protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERSQSQRHG | GEQSWWGSAP | QYQYMPFEHC | TSYGLPSENG | GLQHRPRKDM | GPRHNAHPTQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IYGHQKEQYS | YKAQDGGMPK | KMGSSSTMDS | LDEDHYSKCQ | DCVHRLGRVL | RRKLGEDWIF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVLLGLLMAL | VSWCMDYVSA | KSLQAYKWTY | AQMKPSLPLQ | YLAWVTFPLI | LILFSALFCQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LISPQAVGSG | IPEMKTILRG | VVLKEYLTLK | AFVAKVVALT | AGLGSGIPVG | KEGPFVHIAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ICAAVLSKFM | SMFSGVYEQP | YYYTDILTVG | CAVGVGCCFG | TPLGGVLFSI | EVTSTYFAVR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NYWRGFFAAT | FSAFVFRVLA | VWNKDAVTIT | ALFRTNFRMD | FPFDLKELPA | FAVIGICCGF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LGAVFVYLHR | QVMLGVRKHK | CLSQFLAKHR | LLYPGIVTFV | IASLTFPPGM | GQFMAGELMP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| REAISTLFDN | NTWVKHIGDP | QSLGQSAVWL | HPQVNVIIII | LLFFVMKFWM | SIVATTMPIP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CGGFMPVFVL | GAAFGRLVGE | IMAMLFPEGI | LFDDIIYKIL | PGGYAVIGAA | ALTGAVSHTV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| STAVICFELT | GQIAHILPMM | VAVILANMVA | QSLQPSLYDS | IIQVKKLPYL | PDLGWNQLSK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FTIFVEDIMV | RDVKFVSASC | TYGELRNLLQ | ATTVKTLPLV | DSKDSMILLG | SVERSELQSL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LQRHLCAERR | LKAAQDMARK | LSELPYNGKA | QLAGDWHPGG | RPESFAFVDE | DEDEDLSRKM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ELPLTPAPPP | PSPPPPPSQF | PIAPSNPEEP | NGPLPSHKQP | PEASDSADQR | SSTFQRLLHC |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LLGKAHSKKK | KITQDSTDLV | DNMSPEEIEA | WEREQLSQPV | CFDCCCIDQS | PFQLVEQTTL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| HKTHTLFSLL | GLHLAYVTSM | GKLRGVLALE | ELQKAIEGHT | KSGVQLRPPL | ASFRNTTSIR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KTPGGPPPPA | EGWNVPEDGD | GAPGREVMVP | TMPETPVPPP | SPEAPSCLAP | ARAEGELEEL |
| 970 | 980 | 990 | |||
| EMVGSLEPEE | ELADILHGPS | LRSTDEEDED | ELIL |