Q0III9
SS
Gene name |
ACTN3 |
Protein name |
Alpha-actinin-3 |
Names |
Alpha-actinin skeletal muscle isoform 3 , F-actin cross-linking protein |
Species |
Bos taurus (Bovine) |
KEGG Pathway |
bta:539375 |
EC number |
|
Protein Class |
|
Descriptions
ACTN2 is a major F-actin cross-linking protein in both muscle and non-muscle cells and a major multivalent platform mediating interactions with many cytoskeletal or regulatory proteins. An interaction between the C-terminal region of ACTN2 and the Z-repeat motifs of Titin protein targets ACTN2 to the Z-disk. Full-length ACTN2 does not bind Z-repeats. ACTN2 has a region that acts as a pseudo-Z-repeat between the actin-binding domain (ABD) and the spectrin-like repeats (R1), and this region prevents ACTN2 from binding to the Z-repeat of Titin protein. This autoinhibition is relieved upon binding of the Z-disk lipid phosphatidylinositol-bisphosphate to the ABD of ACTN2.
Autoinhibitory domains (AIDs)
Target domain |
754-901 (EF-hand domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q0III9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q0III9-F1 | Predicted | AlphaFoldDB |
409 variants for Q0III9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs465662625 | 2 | M>L | No | EVA | |
| rs482578249 | 2 | M>T | No | EVA | |
| rs465662625 | 2 | M>V | No | EVA | |
| rs450894448 | 4 | V>L | No | EVA | |
| rs436467322 | 6 | Q>E | No | EVA | |
| rs436467322 | 6 | Q>K | No | EVA | |
| rs465976859 | 11 | G>V | No | EVA | |
| rs434619766 | 12 | T>A | No | EVA | |
| rs434619766 | 12 | T>P | No | EVA | |
| rs471627376 | 16 | P>T | No | EVA | |
| rs456738120 | 17 | F>L | No | EVA | |
| rs473637474 | 19 | G>S | No | EVA | |
| rs459422864 | 26 | Y>* | No | EVA | |
| rs480038702 | 29 | Q>R | No | EVA | |
| rs438942062 | 30 | E>* | No | EVA | |
| rs451253606 | 33 | W>R | No | EVA | |
| rs467751823 | 34 | D>A | No | EVA | |
| rs481463488 | 36 | D>G | No | EVA | |
| rs446931674 | 40 | D>A | No | EVA | |
| rs466990765 | 44 | E>K | No | EVA | |
| rs432463387 | 46 | Q>R | No | EVA | |
| rs465183744 | 49 | K>T | No | EVA | |
| rs480355848 | 85 | V>G | No | EVA | |
| rs436514115 | 124 | I>L | No | EVA | |
| rs448949835 | 125 | G>C | No | EVA | |
| rs440487085 | 128 | E>G | No | EVA | |
| rs460617103 | 129 | I>N | No | EVA | |
| rs460617103 | 129 | I>T | No | EVA | |
| rs477309400 | 130 | V>D | No | EVA | |
| rs477309400 | 130 | V>G | No | EVA | |
| rs444969107 | 131 | D>E | No | EVA | |
| rs465010885 | 132 | G>A | No | EVA | |
| rs450796759 | 134 | L>V | No | EVA | |
| rs467338268 | 135 | K>N | No | EVA | |
| rs466657532 | 159 | S>P | No | EVA | |
| rs476031150 | 172 | T>P | No | EVA | |
| rs444746040 | 173 | A>E | No | EVA | |
| rs455268752 | 180 | V>L | No | EVA | |
| rs475317879 | 185 | T>P | No | EVA | |
| rs440344912 | 186 | S>I | No | EVA | |
| rs439564957 | 188 | K>E | No | EVA | |
| rs133059573 | 197 | I>T | No | EVA | |
| rs134388388 | 198 | H>P | No | EVA | |
| rs134388388 | 198 | H>R | No | EVA | |
| rs800183570 | 211 | R>C | No | EVA | |
| rs465836722 | 241 | I>N | No | EVA | |
| rs479496098 | 263 | F>L | No | EVA | |
| rs1116869392 | 266 | A>V | No | EVA | |
| rs453997527 | 273 | A>P | No | EVA | |
| rs470870914 | 274 | N>K | No | EVA | |
| rs439696417 | 277 | C>* | No | EVA | |
| rs458725868 | 278 | K>E | No | EVA | |
| rs475654898 | 278 | K>N | No | EVA | |
| rs444312129 | 279 | V>L | No | EVA | |
| rs461157495 | 280 | L>P | No | EVA | |
| rs481336310 | 283 | N>S | No | EVA | |
| rs439997423 | 284 | Q>H | No | EVA | |
| rs460168897 | 285 | E>D | No | EVA | |
| rs477079492 | 289 | L>V | No | EVA | |
| rs445741963 | 292 | E>V | No | EVA | |
| rs469595054 | 293 | Y>H | No | EVA | |
| rs483237337 | 295 | K>N | No | EVA | |
| rs448666185 | 298 | S>R | No | EVA | |
| rs435107714 | 300 | L>R | No | EVA | |
| rs455194200 | 303 | W>L | No | EVA | |
| rs472087467 | 304 | I>T | No | EVA | |
| rs440894879 | 306 | R>P | No | EVA | |
| rs451804987 | 310 | W>L | No | EVA | |
| rs470762856 | 312 | E>G | No | EVA | |
| rs472063433 | 315 | V>G | No | EVA | |
| rs443802130 | 316 | G>D | No | EVA | |
| rs464014387 | 318 | P>A | No | EVA | |
| rs480934338 | 319 | S>C | No | EVA | |
| rs480934338 | 319 | S>R | No | EVA | |
| rs442807629 | 321 | S>R | No | EVA | |
| rs459776776 | 322 | A>D | No | EVA | |
| rs445407795 | 323 | M>K | No | EVA | |
| rs479890306 | 323 | M>L | No | EVA | |
| rs464315539 | 324 | Q>K | No | EVA | |
| rs449805800 | 328 | E>G | No | EVA | |
| rs384110411 | 329 | D>E | No | EVA | |
| rs470069510 | 329 | D>G | No | EVA | |
| rs435489593 | 331 | R>P | No | EVA | |
| rs465644530 | 332 | D>A | No | EVA | |
| rs465644530 | 332 | D>G | No | EVA | |
| rs455149821 | 332 | D>N | No | EVA | |
| rs455149821 | 332 | D>Y | No | EVA | |
| rs434438093 | 333 | Y>C | No | EVA | |
| rs434438093 | 333 | Y>F | No | EVA | |
| rs434438093 | 333 | Y>S | No | EVA | |
| rs451339730 | 334 | R>G | No | EVA | |
| rs433282488 | 334 | R>L | No | EVA | |
| rs433282488 | 334 | R>Q | No | EVA | |
| rs443787416 | 335 | R>G | No | EVA | |
| rs457479343 | 335 | R>H | No | EVA | |
| rs474483958 | 336 | L>M | No | EVA | |
| rs443173580 | 336 | L>Q | No | EVA | |
| rs474483958 | 336 | L>V | No | EVA | |
| rs459738076 | 337 | H>P | No | EVA | |
| rs479851409 | 337 | H>Q | No | EVA | |
| rs438793258 | 338 | K>R | No | EVA | |
| rs459003349 | 339 | P>A | No | EVA | |
| rs459003349 | 339 | P>T | No | EVA | |
| rs482402599 | 343 | Q>P | No | EVA | |
| rs449831886 | 347 | Q>E | No | EVA | |
| rs469837625 | 352 | F>Y | No | EVA | |
| rs480318273 | 353 | N>T | No | EVA | |
| rs465910086 | 354 | T>I | No | EVA | |
| rs449136820 | 354 | T>P | No | EVA | |
| rs451214479 | 357 | T>P | No | EVA | |
| rs465030435 | 358 | K>T | No | EVA | |
| rs436910717 | 359 | L>Q | No | EVA | |
| rs457518792 | 362 | S>I | No | EVA | |
| rs474445149 | 363 | H>P | No | EVA | |
| rs436680723 | 363 | H>Q | No | EVA | |
| rs474445149 | 363 | H>R | No | EVA | |
| rs453589768 | 364 | R>G | No | EVA | |
| rs473695965 | 364 | R>Q | No | EVA | |
| rs876491709 | 366 | A>G | No | EVA | |
| rs458897776 | 367 | F>L | No | EVA | |
| rs475929243 | 370 | S>C | No | EVA | |
| rs444538193 | 371 | E>* | No | EVA | |
| rs448997704 | 374 | L>M | No | EVA | |
| rs459452987 | 374 | L>R | No | EVA | |
| rs479773244 | 375 | V>G | No | EVA | |
| rs444810929 | 376 | S>A | No | EVA | |
| rs444810929 | 376 | S>P | No | EVA | |
| rs464955290 | 376 | S>W | No | EVA | |
| rs482193091 | 378 | I>M | No | EVA | |
| rs458736229 | 378 | I>S | No | EVA | |
| rs444012185 | 379 | A>T | No | EVA | |
| rs481090237 | 386 | E>G | No | EVA | |
| rs446598990 | 389 | E>G | No | EVA | |
| rs453306884 | 392 | Y>D | No | EVA | |
| rs446245603 | 393 | E>* | No | EVA | |
| rs876175694 | 393 | E>G | No | EVA | |
| rs438292655 | 394 | D>E | No | EVA | |
| rs469621954 | 394 | D>G | No | EVA | |
| rs876277630 | 395 | W>L | No | EVA | |
| rs454752377 | 397 | L>V | No | EVA | |
| rs454104787 | 399 | E>G | No | EVA | |
| rs434043881 | 399 | E>Q | No | EVA | |
| rs471110718 | 400 | I>V | No | EVA | |
| rs438559666 | 402 | R>G | No | EVA | |
| rs42198707 | 403 | L>I | No | EVA | |
| rs452297246 | 403 | L>P | No | EVA | |
| rs475692955 | 405 | R>G | No | EVA | |
| rs444374313 | 406 | L>R | No | EVA | |
| rs460933983 | 408 | H>D | No | EVA | |
| rs480974924 | 408 | H>P | No | EVA | |
| rs440032326 | 408 | H>Q | No | EVA | |
| rs460174164 | 409 | L>P | No | EVA | |
| rs477152389 | 410 | A>G | No | EVA | |
| rs469627681 | 411 | E>G | No | EVA | |
| rs483122676 | 412 | K>E | No | EVA | |
| rs448740512 | 413 | F>V | No | EVA | |
| rs433908304 | 414 | Q>H | No | EVA | |
| rs468718524 | 414 | Q>P | No | EVA | |
| rs447674792 | 416 | K>Q | No | EVA | |
| rs464591292 | 416 | K>R | No | EVA | |
| rs452192292 | 418 | S>A | No | EVA | |
| rs437806399 | 419 | L>P | No | EVA | |
| rs474921645 | 422 | A>T | No | EVA | |
| rs439995471 | 424 | T>A | No | EVA | |
| rs439995471 | 424 | T>P | No | EVA | |
| rs463740067 | 428 | E>A | No | EVA | |
| rs480571399 | 431 | L>Q | No | EVA | |
| rs459821706 | 433 | Q>H | No | EVA | |
| rs457896404 | 436 | Y>S | No | EVA | |
| rs478144805 | 438 | T>A | No | EVA | |
| rs449933526 | 440 | S>* | No | EVA | |
| rs469919796 | 444 | V>E | No | EVA | |
| rs469919796 | 444 | V>G | No | EVA | |
| rs435107853 | 446 | A>V | No | EVA | |
| rs465864094 | 448 | L>Q | No | EVA | |
| rs451874995 | 454 | F>S | No | EVA | |
| rs472012628 | 458 | L>V | No | EVA | |
| rs437400617 | 461 | H>L | No | EVA | |
| rs457580922 | 462 | Q>E | No | EVA | |
| rs442813348 | 463 | D>G | No | EVA | |
| rs474522433 | 463 | D>H | No | EVA | |
| rs459726092 | 464 | R>C | No | EVA | |
| rs438931828 | 465 | V>E | No | EVA | |
| rs438931828 | 465 | V>G | No | EVA | |
| rs457933536 | 467 | H>L | No | EVA | |
| rs449796392 | 469 | A>G | No | EVA | |
| rs477767118 | 469 | A>S | No | EVA | |
| rs463450129 | 470 | A>S | No | EVA | |
| rs448845103 | 472 | A>D | No | EVA | |
| rs480355004 | 472 | A>S | No | EVA | |
| rs465770912 | 474 | E>Q | No | EVA | |
| rs434463530 | 475 | L>P | No | EVA | |
| rs458521828 | 476 | N>K | No | EVA | |
| rs475357296 | 477 | E>D | No | EVA | |
| rs444047368 | 478 | L>P | No | EVA | |
| rs481177090 | 479 | D>Y | No | EVA | |
| rs446978827 | 480 | Y>S | No | EVA | |
| rs460800086 | 481 | H>R | No | EVA | |
| rs477747348 | 485 | S>T | No | EVA | |
| rs437926607 | 493 | I>M | No | EVA | |
| rs469508852 | 493 | I>V | No | EVA | |
| rs448405184 | 496 | Q>L | No | EVA | |
| rs468633307 | 498 | D>E | No | EVA | |
| rs434101536 | 499 | N>T | No | EVA | |
| rs453031495 | 503 | L>Q | No | EVA | |
| rs473273460 | 504 | T>S | No | EVA | |
| rs432185025 | 506 | K>N | No | EVA | |
| rs452378457 | 509 | D>A | No | EVA | |
| rs475720424 | 510 | A>E | No | EVA | |
| rs460979125 | 512 | E>V | No | EVA | |
| rs453760591 | 517 | L>R | No | EVA | |
| rs439745025 | 520 | T>P | No | EVA | |
| rs483126850 | 528 | F>C | No | EVA | |
| rs462435818 | 533 | A>G | No | EVA | |
| rs479012081 | 538 | W>L | No | EVA | |
| rs447611824 | 539 | L>R | No | EVA | |
| rs464631788 | 543 | V>L | No | EVA | |
| rs478336886 | 544 | E>G | No | EVA | |
| rs445843173 | 545 | D>A | No | EVA | |
| rs469210545 | 546 | L>Q | No | EVA | |
| rs469210545 | 546 | L>R | No | EVA | |
| rs454770174 | 547 | Q>P | No | EVA | |
| rs468466807 | 548 | D>G | No | EVA | |
| rs433533303 | 549 | V>A | No | EVA | |
| rs433533303 | 549 | V>G | No | EVA | |
| rs453677939 | 550 | W>G | No | EVA | |
| rs470485774 | 550 | W>S | No | EVA | |
| rs474946412 | 552 | V>A | No | EVA | |
| rs474946412 | 552 | V>E | No | EVA | |
| rs474946412 | 552 | V>G | No | EVA | |
| rs476570663 | 553 | H>D | No | EVA | |
| rs442194930 | 553 | H>P | No | EVA | |
| rs442194930 | 553 | H>R | No | EVA | |
| rs462424981 | 554 | S>A | No | EVA | |
| rs462424981 | 554 | S>P | No | EVA | |
| rs479370768 | 555 | V>G | No | EVA | |
| rs458096751 | 556 | E>D | No | EVA | |
| rs441183841 | 556 | E>G | No | EVA | |
| rs470278973 | 557 | E>D | No | EVA | |
| rs450168969 | 557 | E>G | No | EVA | |
| rs478289893 | 557 | E>K | No | EVA | |
| rs482784061 | 558 | T>A | No | EVA | |
| rs448200193 | 558 | T>N | No | EVA | |
| rs482784061 | 558 | T>S | No | EVA | |
| rs447232675 | 559 | Q>H | No | EVA | |
| rs433899586 | 559 | Q>P | No | EVA | |
| rs465642930 | 565 | H>R | No | EVA | |
| rs723349530 | 574 | E>K | No | EVA | |
| rs457317296 | 585 | I>V | No | EVA | |
| rs442816510 | 595 | T>K | No | EVA | |
| rs453310844 | 603 | T>P | No | EVA | |
| rs208304190 | 608 | T>A | No | EVA | |
| rs208304190 | 608 | T>P | No | EVA | |
| rs440955947 | 610 | T>P | No | EVA | |
| rs457809528 | 616 | T>P | No | EVA | |
| rs461014490 | 622 | R>Q | No | EVA | |
| rs481622258 | 623 | K>E | No | EVA | |
| rs440605772 | 623 | K>M | No | EVA | |
| rs460663567 | 623 | K>N | No | EVA | |
| rs445999724 | 627 | S>I | No | EVA | |
| rs469248380 | 628 | R>S | No | EVA | |
| rs468670385 | 631 | M>L | No | EVA | |
| rs436158119 | 633 | Q>H | No | EVA | |
| rs453163809 | 634 | E>V | No | EVA | |
| rs466846132 | 635 | E>A | No | EVA | |
| rs432294662 | 637 | T>K | No | EVA | |
| rs452120347 | 639 | Q>* | No | EVA | |
| rs475361050 | 641 | V>G | No | EVA | |
| rs443998502 | 642 | N>H | No | EVA | |
| rs454585696 | 642 | N>S | No | EVA | |
| rs440564311 | 656 | I>N | No | EVA | |
| rs460624577 | 657 | G>A | No | EVA | |
| rs439822454 | 660 | I>T | No | EVA | |
| rs468683554 | 664 | V>G | No | EVA | |
| rs448400153 | 664 | V>L | No | EVA | |
| rs442333623 | 667 | V>G | No | EVA | |
| rs462461627 | 668 | G>V | No | EVA | |
| rs472540999 | 669 | R>G | No | EVA | |
| rs441267176 | 669 | R>P | No | EVA | |
| rs458200218 | 670 | L>R | No | EVA | |
| rs478326753 | 671 | A>D | No | EVA | |
| rs482876440 | 672 | A>G | No | EVA | |
| rs462763168 | 672 | A>P | No | EVA | |
| rs468517629 | 674 | M>I | No | EVA | |
| rs448236914 | 674 | M>V | No | EVA | |
| rs447237773 | 678 | L>P | No | EVA | |
| rs447237773 | 678 | L>R | No | EVA | |
| rs464070980 | 679 | E>* | No | EVA | |
| rs432893638 | 679 | E>G | No | EVA | |
| rs456711219 | 680 | E>A | No | EVA | |
| rs456711219 | 680 | E>G | No | EVA | |
| rs476794612 | 681 | Q>R | No | EVA | |
| rs435790435 | 682 | M>K | No | EVA | |
| rs455937804 | 683 | A>E | No | EVA | |
| rs472909334 | 684 | G>S | No | EVA | |
| rs441228695 | 684 | G>V | No | EVA | |
| rs471879575 | 685 | L>R | No | EVA | |
| rs443654271 | 687 | Q>R | No | EVA | |
| rs463868210 | 688 | Q>E | No | EVA | |
| rs463868210 | 688 | Q>K | No | EVA | |
| rs482858858 | 688 | Q>P | No | EVA | |
| rs482858858 | 688 | Q>R | No | EVA | |
| rs441820339 | 689 | E>A | No | EVA | |
| rs441820339 | 689 | E>G | No | EVA | |
| rs462003672 | 690 | Q>K | No | EVA | |
| rs478741856 | 692 | I>F | No | EVA | |
| rs449656305 | 695 | Y>* | No | EVA | |
| rs477617544 | 695 | Y>H | No | EVA | |
| rs469922363 | 697 | S>G | No | EVA | |
| rs435750547 | 697 | S>R | No | EVA | |
| rs455953259 | 698 | N>T | No | EVA | |
| rs466461817 | 700 | D>N | No | EVA | |
| rs452031943 | 703 | E>G | No | EVA | |
| rs457334193 | 705 | D>A | No | EVA | |
| rs457334193 | 705 | D>G | No | EVA | |
| rs443634313 | 705 | D>Y | No | EVA | |
| rs474358260 | 707 | Q>P | No | EVA | |
| rs461824834 | 708 | L>P | No | EVA | |
| rs441769840 | 708 | L>V | No | EVA | |
| rs478703384 | 710 | Q>P | No | EVA | |
| rs457884766 | 711 | E>D | No | EVA | |
| rs441027860 | 711 | E>G | No | EVA | |
| rs477831293 | 712 | S>G | No | EVA | |
| rs449682145 | 712 | S>R | No | EVA | |
| rs469853651 | 714 | V>G | No | EVA | |
| rs480380106 | 715 | F>V | No | EVA | |
| rs449384123 | 717 | N>K | No | EVA | |
| rs466322858 | 718 | K>R | No | EVA | |
| rs434976418 | 719 | H>P | No | EVA | |
| rs451062112 | 720 | T>M | No | EVA | |
| rs465679761 | 721 | V>G | No | EVA | |
| rs451992889 | 721 | V>L | No | EVA | |
| rs457363360 | 722 | Y>C | No | EVA | |
| rs474305386 | 725 | E>A | No | EVA | |
| rs436532717 | 725 | E>D | No | EVA | |
| rs439578876 | 726 | H>D | No | EVA | |
| rs462950120 | 727 | I>S | No | EVA | |
| rs483076156 | 729 | V>E | No | EVA | |
| rs483076156 | 729 | V>G | No | EVA | |
| rs448437262 | 730 | G>S | No | EVA | |
| rs481179964 | 731 | W>C | No | EVA | |
| rs462263802 | 731 | W>L | No | EVA | |
| rs462263802 | 731 | W>S | No | EVA | |
| rs446699637 | 732 | E>* | No | EVA | |
| rs466847945 | 733 | Q>K | No | EVA | |
| rs432321829 | 734 | L>M | No | EVA | |
| rs445617917 | 734 | L>R | No | EVA | |
| rs468913347 | 735 | L>V | No | EVA | |
| rs437599894 | 739 | A>T | No | EVA | |
| rs210333254 | 741 | T>I | No | EVA | |
| rs454441209 | 743 | N>H | No | EVA | |
| rs474540277 | 745 | V>G | No | EVA | |
| rs434125771 | 756 | G>C | No | EVA | |
| rs471294567 | 765 | F>C | No | EVA | |
| rs454221507 | 765 | F>V | No | EVA | |
| rs439850274 | 770 | N>K | No | EVA | |
| rs463266478 | 771 | H>N | No | EVA | |
| rs476966202 | 777 | N>H | No | EVA | |
| rs442024242 | 780 | M>I | No | EVA | |
| rs455768830 | 782 | P>S | No | EVA | |
| rs472682090 | 784 | D>A | No | EVA | |
| rs441292055 | 787 | A>P | No | EVA | |
| rs458250914 | 788 | C>* | No | EVA | |
| rs443042664 | 799 | V>G | No | EVA | |
| rs480080508 | 808 | V>E | No | EVA | |
| rs465646225 | 809 | D>E | No | EVA | |
| rs436500728 | 816 | V>G | No | EVA | |
| rs453286138 | 817 | T>S | No | EVA | |
| rs451550292 | 822 | I>L | No | EVA | |
| rs443205661 | 824 | F>L | No | EVA | |
| rs473797825 | 825 | M>I | No | EVA | |
| rs456977937 | 825 | M>L | No | EVA | |
| rs133614511 | 826 | T>A | No | EVA | |
| rs133614511 | 826 | T>P | No | EVA | |
| rs459457934 | 826 | T>S | No | EVA | |
| rs439011811 | 841 | S>A | No | EVA | |
| rs453004792 | 850 | N>S | No | EVA | |
| rs453004792 | 850 | N>T | No | EVA | |
| rs473114230 | 855 | E>K | No | EVA | |
| rs438977920 | 857 | L>P | No | EVA | |
| rs459127778 | 858 | R>L | No | EVA | |
| rs476052041 | 860 | E>D | No | EVA | |
| rs461491805 | 864 | E>A | No | EVA | |
| rs481189866 | 865 | Q>E | No | EVA | |
| rs446826779 | 866 | A>G | No | EVA | |
| rs460637545 | 868 | Y>D | No | EVA | |
| rs460637545 | 868 | Y>N | No | EVA | |
| rs477604410 | 868 | Y>S | No | EVA | |
| rs465085885 | 871 | R>P | No | EVA | |
| rs450792383 | 873 | M>L | No | EVA | |
| rs467698859 | 873 | M>T | No | EVA | |
| rs452871230 | 876 | Y>F | No | EVA | |
| rs432016177 | 881 | A>D | No | EVA | |
| rs432016177 | 881 | A>G | No | EVA | |
| rs452186971 | 882 | P>S | No | EVA | |
| rs461455000 | 883 | A>D | No | EVA | |
| rs444618574 | 883 | A>T | No | EVA | |
| rs460458365 | 885 | A>D | No | EVA | |
| rs460458365 | 885 | A>G | No | EVA | |
| rs440352474 | 885 | A>P | No | EVA | |
| rs477451831 | 887 | D>G | No | EVA | |
| rs463084562 | 888 | Y>S | No | EVA | |
| rs481994699 | 890 | A>G | No | EVA | |
| rs481994699 | 890 | A>V | No | EVA | |
| rs467660146 | 892 | S>F | No | EVA | |
| rs446737495 | 896 | Y>* | No | EVA | |
| rs466482742 | 898 | E>G | No | EVA | |
| rs431973430 | 899 | S>G | No | EVA | |
| rs452080294 | 899 | S>R | No | EVA |
No associated diseases with Q0III9
11 regional properties for Q0III9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Actinin-type actin-binding domain, conserved site | 47 - 56 | IPR001589-1 |
| conserved_site | Actinin-type actin-binding domain, conserved site | 121 - 145 | IPR001589-2 |
| domain | Calponin homology domain | 45 - 149 | IPR001715-1 |
| domain | Calponin homology domain | 158 - 264 | IPR001715-2 |
| repeat | Spectrin repeat | 289 - 397 | IPR002017-1 |
| repeat | Spectrin repeat | 408 - 512 | IPR002017-2 |
| repeat | Spectrin repeat | 524 - 634 | IPR002017-3 |
| repeat | Spectrin repeat | 645 - 746 | IPR002017-4 |
| domain | EF-hand domain | 760 - 828 | IPR002048 |
| domain | EF-hand, Ca insensitive | 831 - 897 | IPR014837 |
| repeat | Spectrin/alpha-actinin | 409 - 747 | IPR018159 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma 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. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| muscle cell development | The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5D7D1 | ACTN4 | Alpha-actinin-4 | Bos taurus (Bovine) | SS |
| Q3B7N2 | ACTN1 | Alpha-actinin-1 | Bos taurus (Bovine) | SS |
| Q3ZC55 | ACTN2 | Alpha-actinin-2 | Bos taurus (Bovine) | SS |
| Q90734 | ACTN4 | Alpha-actinin-4 | Gallus gallus (Chicken) | SS |
| P05094 | ACTN1 | Alpha-actinin-1 | Gallus gallus (Chicken) | SS |
| P20111 | ACTN2 | Alpha-actinin-2 | Gallus gallus (Chicken) | SS |
| P18091 | Actn | Alpha-actinin, sarcomeric | Drosophila melanogaster (Fruit fly) | SS |
| O43707 | ACTN4 | Alpha-actinin-4 | Homo sapiens (Human) | SS |
| P12814 | ACTN1 | Alpha-actinin-1 | Homo sapiens (Human) | SS |
| P35609 | ACTN2 | Alpha-actinin-2 | Homo sapiens (Human) | EV |
| Q08043 | ACTN3 | Alpha-actinin-3 | Homo sapiens (Human) | SS |
| Q9JI91 | Actn2 | Alpha-actinin-2 | Mus musculus (Mouse) | SS |
| O88990 | Actn3 | Alpha-actinin-3 | Mus musculus (Mouse) | SS |
| P57780 | Actn4 | Alpha-actinin-4 | Mus musculus (Mouse) | SS |
| Q7TPR4 | Actn1 | Alpha-actinin-1 | Mus musculus (Mouse) | SS |
| Q9Z1P2 | Actn1 | Alpha-actinin-1 | Rattus norvegicus (Rat) | SS |
| Q9QXQ0 | Actn4 | Alpha-actinin-4 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMMVLQPEGL | GTGEGPFAGG | RGGGEYMEQE | EDWDRDLLLD | PAWEKQQRKT | FTAWCNSHLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KAGTQIENIE | EDFRNGLKLM | LLLEVISGER | LPRPDKGKMR | FHKIANVNKA | LDFIASKGVK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVSIGAEEIV | DGNLKMTLGM | IWTIILRFAI | QDISVEETSA | KEGLLLWCQR | KTAPYRNVNV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QNFHTSWKDG | LALCALIHRH | RPDLIDYAKL | RKDDPIGNLN | TAFEVAEKYL | DIPKMLDAED |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IVNTPKPDEK | AIMTYVSCFY | HAFAGAEQAE | TAANRICKVL | AVNQENEKLM | EEYEKLASEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEWIRRTVPW | LENRVGEPSM | SAMQRKLEDF | RDYRRLHKPP | RVQEKCQLEI | NFNTLQTKLR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSHRPAFMPS | EGKLVSDIAN | AWRGLEQAEK | GYEDWLLSEI | RRLQRLQHLA | EKFQQKASLH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EAWTRGKEDM | LSQRDYETAS | LQEVRALLRR | HEAFESDLAA | HQDRVEHIAA | LAQELNELDY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HEAASVNSRC | QAICDQWDNL | GTLTQKRRDA | LERMEKLLET | IDQLQLEFAR | RAAPFNNWLD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GAVEDLQDVW | LVHSVEETQS | LVTAHDQFKA | TLPEADRERG | AILGIQGEIQ | KICQTYGLRP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SSTNPYITLT | PQDINTKWDT | VRKLVPSRDQ | MLQEELTRQQ | VNERLRRQFA | AQANAIGPWI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QGKVEEVGRL | AAGMAGSLEE | QMAGLRQQEQ | NIINYKSNID | RLEGDHQLLQ | ESLVFDNKHT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VYSMEHIRVG | WEQLLTSIAR | TINEVENQVL | TRDAKGLSQE | QLNEFRASFN | HFDRKRNGMM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EPDDFRACLI | SMGYDLGEVE | FARIMTMVDP | NAAGVVTFQA | FIDFMTRETA | ETDTAEQVVA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SFKILAGDKN | YITAEELRRE | LPAEQAEYCI | RRMAPYKGAG | APAGALDYVA | FSSALYGESD |
| L |