A5D7D1
SS
Gene name |
ACTN4 |
Protein name |
Alpha-actinin-4 |
Names |
Non-muscle alpha-actinin 4 |
Species |
Bos taurus (Bovine) |
KEGG Pathway |
bta:522269 |
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 |
759-911 (EF-hand domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for A5D7D1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A5D7D1-F1 | Predicted | AlphaFoldDB |
489 variants for A5D7D1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs463761264 | 2 | V>G | No | EVA | |
| rs439762051 | 3 | D>E | No | EVA | |
| rs482302988 | 3 | D>G | No | EVA | |
| rs479626437 | 4 | Y>* | No | EVA | |
| rs457905931 | 4 | Y>H | No | EVA | |
| rs457905931 | 4 | Y>N | No | EVA | |
| rs446662466 | 5 | H>P | No | EVA | |
| rs468498908 | 5 | H>Q | No | EVA | |
| rs450453428 | 6 | A>E | No | EVA | |
| rs480619780 | 6 | A>P | No | EVA | |
| rs432824391 | 7 | A>G | No | EVA | |
| rs468839450 | 7 | A>T | No | EVA | |
| rs464553154 | 8 | N>D | No | EVA | |
| rs434979578 | 8 | N>K | No | EVA | |
| rs453488099 | 9 | Q>K | No | EVA | |
| rs475333458 | 9 | Q>P | No | EVA | |
| rs457307328 | 10 | S>A | No | EVA | |
| rs475822780 | 10 | S>W | No | EVA | |
| rs473145761 | 11 | Y>* | No | EVA | |
| rs458238997 | 11 | Y>D | No | EVA | |
| rs458238997 | 11 | Y>H | No | EVA | |
| rs440183520 | 12 | Q>K | No | EVA | |
| rs461958647 | 12 | Q>P | No | EVA | |
| rs462354701 | 13 | Y>* | No | EVA | |
| rs434072720 | 13 | Y>C | No | EVA | |
| rs480533378 | 13 | Y>D | No | EVA | |
| rs434072720 | 13 | Y>F | No | EVA | |
| rs480533378 | 13 | Y>H | No | EVA | |
| rs480533378 | 13 | Y>N | No | EVA | |
| rs477621873 | 14 | G>R | No | EVA | |
| rs466502779 | 15 | P>T | No | EVA | |
| rs447026130 | 16 | S>R | No | EVA | |
| rs433713663 | 16 | S>R | No | EVA | |
| rs468780522 | 17 | S>R | No | EVA | |
| rs435860097 | 18 | G>R | No | EVA | |
| rs457648603 | 18 | G>V | No | EVA | |
| rs475759534 | 19 | S>C | No | EVA | |
| rs475759534 | 19 | S>G | No | EVA | |
| rs433155153 | 19 | S>R | No | EVA | |
| rs451767913 | 20 | N>D | No | EVA | |
| rs451767913 | 20 | N>H | No | EVA | |
| rs440527863 | 20 | N>K | No | EVA | |
| rs473518330 | 20 | N>S | No | EVA | |
| rs461933543 | 21 | G>C | No | EVA | |
| rs461933543 | 21 | G>R | No | EVA | |
| rs474029222 | 22 | A>G | No | EVA | |
| rs444791992 | 26 | G>D | No | EVA | |
| rs444791992 | 26 | G>V | No | EVA | |
| rs478734228 | 27 | T>A | No | EVA | |
| rs448908598 | 27 | T>N | No | EVA | |
| rs468767371 | 28 | M>K | No | EVA | |
| rs468767371 | 28 | M>R | No | EVA | |
| rs451167966 | 30 | D>A | No | EVA | |
| rs451167966 | 30 | D>G | No | EVA | |
| rs469669139 | 31 | Y>D | No | EVA | |
| rs451706387 | 32 | M>I | No | EVA | |
| rs433499396 | 32 | M>K | No | EVA | |
| rs433499396 | 32 | M>R | No | EVA | |
| rs433499396 | 32 | M>T | No | EVA | |
| rs434042061 | 33 | A>D | No | EVA | |
| rs466957802 | 33 | A>T | No | EVA | |
| rs434042061 | 33 | A>V | No | EVA | |
| rs455772323 | 34 | Q>P | No | EVA | |
| rs473985186 | 35 | E>G | No | EVA | |
| rs456217502 | 36 | D>A | No | EVA | |
| rs456217502 | 36 | D>V | No | EVA | |
| rs444195405 | 36 | D>Y | No | EVA | |
| rs471494690 | 38 | W>R | No | EVA | |
| rs438690943 | 39 | D>A | No | EVA | |
| rs478664975 | 45 | D>A | No | EVA | |
| rs442469941 | 46 | P>R | No | EVA | |
| rs461010183 | 48 | W>L | No | EVA | |
| rs482813354 | 50 | K>E | No | EVA | |
| rs451110818 | 51 | Q>* | No | EVA | |
| rs469612686 | 52 | Q>K | No | EVA | |
| rs445585532 | 54 | K>N | No | EVA | |
| rs134657374 | 55 | T>A | No | EVA | |
| rs134657374 | 55 | T>P | No | EVA | |
| rs480537271 | 57 | T>P | No | EVA | |
| rs444170869 | 57 | T>R | No | EVA | |
| rs462587496 | 60 | C>S | No | EVA | |
| rs478105958 | 61 | N>I | No | EVA | |
| rs445081576 | 61 | N>K | No | EVA | |
| rs466936744 | 63 | H>P | No | EVA | |
| rs466936744 | 63 | H>R | No | EVA | |
| rs478621971 | 68 | G>D | No | EVA | |
| rs467431190 | 74 | I>S | No | EVA | |
| rs457490928 | 75 | D>E | No | EVA | |
| rs469550465 | 76 | E>Q | No | EVA | |
| rs433418724 | 77 | D>V | No | EVA | |
| rs451890844 | 81 | G>R | No | EVA | |
| rs455598214 | 90 | V>D | No | EVA | |
| rs437938853 | 98 | K>M | No | EVA | |
| rs456530990 | 98 | K>N | No | EVA | |
| rs471846741 | 99 | P>S | No | EVA | |
| rs432459409 | 129 | I>S | No | EVA | |
| rs469119072 | 163 | T>A | No | EVA | |
| rs437367952 | 166 | K>Q | No | EVA | |
| rs452736002 | 170 | L>R | No | EVA | |
| rs471253139 | 174 | Q>H | No | EVA | |
| rs442101827 | 219 | D>A | No | EVA | |
| rs463715789 | 220 | P>A | No | EVA | |
| rs475390534 | 220 | P>H | No | EVA | |
| rs457850505 | 221 | V>L | No | EVA | |
| rs479760376 | 239 | K>E | No | EVA | |
| rs446748036 | 240 | M>I | No | EVA | |
| rs454511124 | 305 | L>R | No | EVA | |
| rs474171702 | 308 | W>G | No | EVA | |
| rs444645699 | 311 | R>C | No | EVA | |
| rs439122205 | 315 | W>G | No | EVA | |
| rs460535066 | 317 | E>G | No | EVA | |
| rs472616719 | 318 | D>A | No | EVA | |
| rs461462063 | 320 | V>G | No | EVA | |
| rs482860837 | 325 | I>T | No | EVA | |
| rs449870449 | 332 | L>R | No | EVA | |
| rs477331114 | 334 | D>H | No | EVA | |
| rs465582985 | 341 | V>F | No | EVA | |
| rs435408209 | 341 | V>G | No | EVA | |
| rs469707164 | 342 | H>P | No | EVA | |
| rs456707180 | 343 | K>N | No | EVA | |
| rs438143166 | 343 | K>Q | No | EVA | |
| rs472023064 | 344 | P>A | No | EVA | |
| rs472023064 | 344 | P>S | No | EVA | |
| rs472023064 | 344 | P>T | No | EVA | |
| rs454459442 | 345 | P>Q | No | EVA | |
| rs442866874 | 346 | K>E | No | EVA | |
| rs461398683 | 346 | K>N | No | EVA | |
| rs442866874 | 346 | K>Q | No | EVA | |
| rs476750216 | 347 | V>A | No | EVA | |
| rs476750216 | 347 | V>G | No | EVA | |
| rs443736157 | 348 | Q>E | No | EVA | |
| rs458725808 | 348 | Q>P | No | EVA | |
| rs458725808 | 348 | Q>R | No | EVA | |
| rs447461848 | 349 | E>A | No | EVA | |
| rs447461848 | 349 | E>G | No | EVA | |
| rs477277609 | 349 | E>K | No | EVA | |
| rs480771636 | 350 | K>E | No | EVA | |
| rs469804517 | 351 | C>G | No | EVA | |
| rs469804517 | 351 | C>S | No | EVA | |
| rs436884316 | 351 | C>W | No | EVA | |
| rs465561704 | 352 | Q>H | No | EVA | |
| rs445721840 | 352 | Q>P | No | EVA | |
| rs432562507 | 353 | L>M | No | EVA | |
| rs454396128 | 353 | L>P | No | EVA | |
| rs472893158 | 354 | E>G | No | EVA | |
| rs436336773 | 355 | I>S | No | EVA | |
| rs476673324 | 357 | F>L | No | EVA | |
| rs443699887 | 357 | F>L | No | EVA | |
| rs452536776 | 358 | N>K | No | EVA | |
| rs440968397 | 361 | Q>H | No | EVA | |
| rs470779866 | 361 | Q>P | No | EVA | |
| rs481108079 | 365 | R>S | No | EVA | |
| rs463345854 | 369 | R>Q | No | EVA | |
| rs481911339 | 371 | A>V | No | EVA | |
| rs445691706 | 373 | M>L | No | EVA | |
| rs464248101 | 377 | G>A | No | EVA | |
| rs876482179 | 380 | V>G | No | EVA | |
| rs876214168 | 381 | S>A | No | EVA | |
| rs1115616700 | 381 | S>L | No | EVA | |
| rs446873850 | 385 | N>D | No | EVA | |
| rs435337188 | 392 | Q>H | No | EVA | |
| rs468514165 | 392 | Q>L | No | EVA | |
| rs457066639 | 393 | A>S | No | EVA | |
| rs475698515 | 400 | W>G | No | EVA | |
| rs433056217 | 402 | L>V | No | EVA | |
| rs451653866 | 403 | N>D | No | EVA | |
| rs461799023 | 405 | I>M | No | EVA | |
| rs440032464 | 405 | I>S | No | EVA | |
| rs472962494 | 405 | I>V | No | EVA | |
| rs473891393 | 407 | R>P | No | EVA | |
| rs463898163 | 409 | E>D | No | EVA | |
| rs444163190 | 409 | E>G | No | EVA | |
| rs482504188 | 410 | R>G | No | EVA | |
| rs446272859 | 411 | L>I | No | EVA | |
| rs458300278 | 411 | L>P | No | EVA | |
| rs446272859 | 411 | L>V | No | EVA | |
| rs446810444 | 412 | D>A | No | EVA | |
| rs446810444 | 412 | D>G | No | EVA | |
| rs479571649 | 412 | D>H | No | EVA | |
| rs479571649 | 412 | D>Y | No | EVA | |
| rs435680882 | 413 | H>D | No | EVA | |
| rs451005816 | 413 | H>P | No | EVA | |
| rs469138504 | 414 | L>P | No | EVA | |
| rs469138504 | 414 | L>R | No | EVA | |
| rs451570144 | 415 | A>G | No | EVA | |
| rs455325206 | 416 | E>A | No | EVA | |
| rs455325206 | 416 | E>G | No | EVA | |
| rs433901276 | 416 | E>K | No | EVA | |
| rs473855737 | 417 | K>E | No | EVA | |
| rs473855737 | 417 | K>Q | No | EVA | |
| rs444076271 | 417 | K>R | No | EVA | |
| rs475979266 | 418 | F>C | No | EVA | |
| rs456227565 | 418 | F>L | No | EVA | |
| rs456227565 | 418 | F>V | No | EVA | |
| rs458236804 | 419 | R>G | No | EVA | |
| rs479909241 | 419 | R>P | No | EVA | |
| rs440715079 | 420 | Q>E | No | EVA | |
| rs480686964 | 420 | Q>H | No | EVA | |
| rs461959624 | 420 | Q>P | No | EVA | |
| rs461959624 | 420 | Q>R | No | EVA | |
| rs469503203 | 422 | A>G | No | EVA | |
| rs478013172 | 423 | S>P | No | EVA | |
| rs478013172 | 423 | S>T | No | EVA | |
| rs466811348 | 424 | I>F | No | EVA | |
| rs466811348 | 424 | I>L | No | EVA | |
| rs455662444 | 425 | H>P | No | EVA | |
| rs467305564 | 426 | E>K | No | EVA | |
| rs467305564 | 426 | E>Q | No | EVA | |
| rs471514133 | 427 | A>G | No | EVA | |
| rs456122042 | 427 | A>P | No | EVA | |
| rs438501413 | 428 | W>R | No | EVA | |
| rs451791933 | 430 | D>E | No | EVA | |
| rs436411141 | 434 | A>D | No | EVA | |
| rs454974453 | 435 | M>I | No | EVA | |
| rs476743358 | 436 | L>P | No | EVA | |
| rs452167054 | 439 | R>L | No | EVA | |
| rs441031518 | 444 | A>V | No | EVA | |
| rs459505734 | 453 | I>F | No | EVA | |
| rs474573495 | 460 | E>A | No | EVA | |
| rs441599956 | 462 | D>A | No | EVA | |
| rs441599956 | 462 | D>V | No | EVA | |
| rs463406391 | 465 | A>D | No | EVA | |
| rs445791958 | 468 | D>A | No | EVA | |
| rs481974872 | 468 | D>N | No | EVA | |
| rs449584462 | 525 | T>P | No | EVA | |
| rs464845345 | 527 | D>E | No | EVA | |
| rs476888171 | 533 | Y>N | No | EVA | |
| rs41886259 | 534 | A>T | No | EVA | |
| rs447330791 | 536 | R>G | No | EVA | |
| rs434175687 | 550 | D>A | No | EVA | |
| rs455972070 | 554 | M>I | No | EVA | |
| rs443454436 | 565 | G>V | No | EVA | |
| rs470367192 | 566 | L>Q | No | EVA | |
| rs458677338 | 566 | L>V | No | EVA | |
| rs440781550 | 567 | I>F | No | EVA | |
| rs459393157 | 567 | I>N | No | EVA | |
| rs459393157 | 567 | I>S | No | EVA | |
| rs448201523 | 568 | S>* | No | EVA | |
| rs481155769 | 568 | S>A | No | EVA | |
| rs481155769 | 568 | S>T | No | EVA | |
| rs483225942 | 570 | H>P | No | EVA | |
| rs450369114 | 570 | H>Q | No | EVA | |
| rs465675537 | 571 | D>H | No | EVA | |
| rs432708639 | 572 | Q>* | No | EVA | |
| rs466213936 | 572 | Q>H | No | EVA | |
| rs447587541 | 572 | Q>R | No | EVA | |
| rs436472348 | 573 | F>Y | No | EVA | |
| rs454895491 | 574 | K>M | No | EVA | |
| rs470699325 | 576 | T>M | No | EVA | |
| rs452229499 | 576 | T>S | No | EVA | |
| rs459261236 | 578 | P>Q | No | EVA | |
| rs463451993 | 579 | D>E | No | EVA | |
| rs441663323 | 579 | D>G | No | EVA | |
| rs474636763 | 579 | D>N | No | EVA | |
| rs474636763 | 579 | D>Y | No | EVA | |
| rs450305710 | 581 | D>N | No | EVA | |
| rs459187530 | 582 | R>S | No | EVA | |
| rs477735474 | 583 | E>G | No | EVA | |
| rs448000104 | 584 | R>G | No | EVA | |
| rs466092318 | 585 | E>G | No | EVA | |
| rs481489485 | 586 | A>G | No | EVA | |
| rs448449802 | 588 | L>R | No | EVA | |
| rs470097551 | 591 | H>D | No | EVA | |
| rs437303117 | 592 | K>N | No | EVA | |
| rs452167081 | 596 | R>Q | No | EVA | |
| rs434644198 | 598 | A>D | No | EVA | |
| rs133556399 | 598 | A>P | No | EVA | |
| rs441614604 | 599 | E>A | No | EVA | |
| rs456969595 | 599 | E>D | No | EVA | |
| rs441614604 | 599 | E>G | No | EVA | |
| rs474563575 | 599 | E>Q | No | EVA | |
| rs475497933 | 600 | S>G | No | EVA | |
| rs475497933 | 600 | S>R | No | EVA | |
| rs439356228 | 600 | S>R | No | EVA | |
| rs459124144 | 601 | N>H | No | EVA | |
| rs441466934 | 601 | N>K | No | EVA | |
| rs134973512 | 601 | N>T | No | EVA | |
| rs460058566 | 602 | H>N | No | EVA | |
| rs481813122 | 602 | H>P | No | EVA | |
| rs448386504 | 603 | I>L | No | EVA | |
| rs470036116 | 603 | I>N | No | EVA | |
| rs470036116 | 603 | I>S | No | EVA | |
| rs470036116 | 603 | I>T | No | EVA | |
| rs482106659 | 604 | K>N | No | EVA | |
| rs464294927 | 605 | L>H | No | EVA | |
| rs446120058 | 605 | L>I | No | EVA | |
| rs464294927 | 605 | L>P | No | EVA | |
| rs434582559 | 606 | S>P | No | EVA | |
| rs468488709 | 607 | G>R | No | EVA | |
| rs468488709 | 607 | G>S | No | EVA | |
| rs435526975 | 607 | G>V | No | EVA | |
| rs475434845 | 608 | S>G | No | EVA | |
| rs475434845 | 608 | S>R | No | EVA | |
| rs439294198 | 608 | S>T | No | EVA | |
| rs471129992 | 609 | N>K | No | EVA | |
| rs451407119 | 609 | N>T | No | EVA | |
| rs441389791 | 611 | Y>H | No | EVA | |
| rs459941718 | 611 | Y>S | No | EVA | |
| rs442309712 | 612 | T>N | No | EVA | |
| rs482509249 | 612 | T>P | No | EVA | |
| rs463548620 | 613 | T>P | No | EVA | |
| rs446057132 | 614 | V>A | No | EVA | |
| rs446057132 | 614 | V>D | No | EVA | |
| rs482045185 | 614 | V>L | No | EVA | |
| rs458253053 | 615 | T>A | No | EVA | |
| rs458253053 | 615 | T>P | No | EVA | |
| rs480006057 | 615 | T>S | No | EVA | |
| rs435465538 | 617 | Q>H | No | EVA | |
| rs468374804 | 617 | Q>P | No | EVA | |
| rs468944495 | 619 | I>L | No | EVA | |
| rs432750029 | 619 | I>N | No | EVA | |
| rs473127942 | 620 | N>H | No | EVA | |
| rs433697366 | 620 | N>K | No | EVA | |
| rs453462719 | 621 | S>C | No | EVA | |
| rs453462719 | 621 | S>Y | No | EVA | |
| rs442230192 | 622 | K>N | No | EVA | |
| rs475022428 | 622 | K>T | No | EVA | |
| rs475889842 | 626 | V>A | No | EVA | |
| rs475889842 | 626 | V>G | No | EVA | |
| rs458133826 | 627 | Q>P | No | EVA | |
| rs458133826 | 627 | Q>R | No | EVA | |
| rs473396826 | 629 | L>R | No | EVA | |
| rs440441050 | 630 | V>G | No | EVA | |
| rs480376959 | 632 | K>Q | No | EVA | |
| rs444227019 | 632 | K>T | No | EVA | |
| rs462797495 | 633 | R>G | No | EVA | |
| rs445103744 | 634 | D>A | No | EVA | |
| rs466539051 | 634 | D>E | No | EVA | |
| rs445103744 | 634 | D>G | No | EVA | |
| rs478090715 | 634 | D>H | No | EVA | |
| rs478090715 | 634 | D>Y | No | EVA | |
| rs478670743 | 635 | H>N | No | EVA | |
| rs448932877 | 635 | H>P | No | EVA | |
| rs437683355 | 636 | A>P | No | EVA | |
| rs457371905 | 637 | L>H | No | EVA | |
| rs457371905 | 637 | L>P | No | EVA | |
| rs433426981 | 638 | L>P | No | EVA | |
| rs433426981 | 638 | L>R | No | EVA | |
| rs469448165 | 638 | L>V | No | EVA | |
| rs451911590 | 639 | E>A | No | EVA | |
| rs451911590 | 639 | E>G | No | EVA | |
| rs473399964 | 640 | E>G | No | EVA | |
| rs455760865 | 641 | Q>K | No | EVA | |
| rs444588849 | 642 | S>G | No | EVA | |
| rs444588849 | 642 | S>R | No | EVA | |
| rs462709245 | 642 | S>R | No | EVA | |
| rs478060288 | 644 | Q>K | No | EVA | |
| rs478989904 | 645 | Q>H | No | EVA | |
| rs438659006 | 645 | Q>K | No | EVA | |
| rs460419461 | 645 | Q>P | No | EVA | |
| rs460419461 | 645 | Q>R | No | EVA | |
| rs448775486 | 646 | S>A | No | EVA | |
| rs448775486 | 646 | S>P | No | EVA | |
| rs482516518 | 647 | N>D | No | EVA | |
| rs482516518 | 647 | N>H | No | EVA | |
| rs469359925 | 647 | N>K | No | EVA | |
| rs449700428 | 647 | N>T | No | EVA | |
| rs433392347 | 648 | E>A | No | EVA | |
| rs451944486 | 648 | E>D | No | EVA | |
| rs433392347 | 648 | E>G | No | EVA | |
| rs467221871 | 649 | H>P | No | EVA | |
| rs434299829 | 650 | L>P | No | EVA | |
| rs434299829 | 650 | L>R | No | EVA | |
| rs474206009 | 651 | R>P | No | EVA | |
| rs438060786 | 652 | R>L | No | EVA | |
| rs438060786 | 652 | R>P | No | EVA | |
| rs471573760 | 653 | Q>H | No | EVA | |
| rs456651142 | 653 | Q>R | No | EVA | |
| rs460382440 | 654 | F>C | No | EVA | |
| rs472478248 | 654 | F>L | No | EVA | |
| rs460382440 | 654 | F>S | No | EVA | |
| rs438571744 | 654 | F>V | No | EVA | |
| rs442718995 | 655 | A>P | No | EVA | |
| rs442718995 | 655 | A>S | No | EVA | |
| rs482426937 | 656 | S>I | No | EVA | |
| rs449663945 | 657 | Q>E | No | EVA | |
| rs458593160 | 659 | N>D | No | EVA | |
| rs477172557 | 662 | G>W | No | EVA | |
| rs434238948 | 664 | W>* | No | EVA | |
| rs467233886 | 664 | W>G | No | EVA | |
| rs449608065 | 665 | I>L | No | EVA | |
| rs467743732 | 665 | I>T | No | EVA | |
| rs438021888 | 670 | E>* | No | EVA | |
| rs434937917 | 672 | I>F | No | EVA | |
| rs453413493 | 672 | I>T | No | EVA | |
| rs475106416 | 675 | I>M | No | EVA | |
| rs442318082 | 677 | I>F | No | EVA | |
| rs457293723 | 678 | E>G | No | EVA | |
| rs475811600 | 681 | G>W | No | EVA | |
| rs439656426 | 683 | L>R | No | EVA | |
| rs458184215 | 684 | E>G | No | EVA | |
| rs479943434 | 685 | D>E | No | EVA | |
| rs440210444 | 689 | H>P | No | EVA | |
| rs468953413 | 701 | K>R | No | EVA | |
| rs466605948 | 708 | E>D | No | EVA | |
| rs433702059 | 711 | H>P | No | EVA | |
| rs453376385 | 715 | Q>E | No | EVA | |
| rs453376385 | 715 | Q>K | No | EVA | |
| rs468614729 | 716 | E>A | No | EVA | |
| rs435806115 | 718 | L>P | No | EVA | |
| rs457587552 | 728 | T>P | No | EVA | |
| rs465453236 | 734 | V>G | No | EVA | |
| rs432496542 | 735 | G>R | No | EVA | |
| rs453769419 | 742 | T>P | No | EVA | |
| rs465808298 | 743 | I>T | No | EVA | |
| rs436204888 | 744 | A>D | No | EVA | |
| rs454696951 | 748 | N>T | No | EVA | |
| rs476168369 | 749 | E>D | No | EVA | |
| rs443195186 | 750 | V>L | No | EVA | |
| rs452037651 | 752 | N>H | No | EVA | |
| rs470698568 | 756 | T>P | No | EVA | |
| rs440955350 | 761 | G>V | No | EVA | |
| rs460694344 | 764 | Q>H | No | EVA | |
| rs472813354 | 770 | F>L | No | EVA | |
| rs461641603 | 773 | S>P | No | EVA | |
| rs461641603 | 773 | S>T | No | EVA | |
| rs464436840 | 781 | H>P | No | EVA | |
| rs479757138 | 785 | L>R | No | EVA | |
| rs468177522 | 787 | P>A | No | EVA | |
| rs435226663 | 789 | E>* | No | EVA | |
| rs456998850 | 789 | E>G | No | EVA | |
| rs470363721 | 790 | F>V | No | EVA | |
| rs437363380 | 792 | A>P | No | EVA | |
| rs452615973 | 794 | L>P | No | EVA | |
| rs471103058 | 795 | I>L | No | EVA | |
| rs441506709 | 796 | S>G | No | EVA | |
| rs475033471 | 798 | G>C | No | EVA | |
| rs463806283 | 806 | Q>P | No | EVA | |
| rs480866110 | 811 | F>L | No | EVA | |
| rs451026093 | 812 | N>H | No | EVA | |
| rs469651211 | 814 | I>M | No | EVA | |
| rs478547506 | 815 | M>V | No | EVA | |
| rs466976825 | 817 | V>G | No | EVA | |
| rs445246292 | 817 | V>L | No | EVA | |
| rs434020643 | 818 | V>G | No | EVA | |
| rs467878245 | 819 | D>A | No | EVA | |
| rs455836702 | 819 | D>H | No | EVA | |
| rs456316137 | 826 | V>E | No | EVA | |
| rs456316137 | 826 | V>G | No | EVA | |
| rs471502817 | 827 | T>P | No | EVA | |
| rs438672609 | 828 | F>V | No | EVA | |
| rs472027790 | 831 | F>L | No | EVA | |
| rs442458189 | 832 | I>T | No | EVA | |
| rs482813538 | 833 | D>A | No | EVA | |
| rs444620896 | 833 | D>E | No | EVA | |
| rs482813538 | 833 | D>G | No | EVA | |
| rs463191823 | 834 | F>I | No | EVA | |
| rs478461628 | 834 | F>L | No | EVA | |
| rs466939919 | 835 | M>I | No | EVA | |
| rs445563372 | 835 | M>R | No | EVA | |
| rs445563372 | 835 | M>T | No | EVA | |
| rs479040975 | 843 | D>E | No | EVA | |
| rs449218071 | 845 | A>D | No | EVA | |
| rs467889826 | 846 | D>G | No | EVA | |
| rs438126801 | 848 | V>A | No | EVA | |
| rs465004571 | 858 | D>Y | No | EVA | |
| rs443625390 | 860 | N>D | No | EVA | |
| rs458855329 | 860 | N>K | No | EVA | |
| rs447386173 | 861 | F>L | No | EVA | |
| rs477353961 | 861 | F>V | No | EVA | |
| rs465932241 | 862 | I>L | No | EVA | |
| rs481315212 | 862 | I>N | No | EVA | |
| rs481315212 | 862 | I>T | No | EVA | |
| rs134863376 | 863 | T>P | No | EVA | |
| rs436768437 | 864 | A>T | No | EVA | |
| rs452175598 | 865 | E>A | No | EVA | |
| rs452175598 | 865 | E>G | No | EVA | |
| rs434476772 | 866 | E>G | No | EVA | |
| rs464246570 | 866 | E>K | No | EVA | |
| rs454264070 | 867 | L>V | No | EVA | |
| rs472801918 | 868 | R>P | No | EVA | |
| rs472801918 | 868 | R>Q | No | EVA | |
| rs455130231 | 869 | R>G | No | EVA | |
| rs476964333 | 869 | R>S | No | EVA | |
| rs443582804 | 870 | E>G | No | EVA | |
| rs477265643 | 871 | L>P | No | EVA | |
| rs458816488 | 871 | L>V | No | EVA | |
| rs441270369 | 872 | P>A | No | EVA | |
| rs459519848 | 873 | P>T | No | EVA | |
| rs481290273 | 874 | D>H | No | EVA | |
| rs448301820 | 875 | Q>P | No | EVA | |
| rs470068082 | 878 | Y>D | No | EVA | |
| rs446998203 | 879 | C>F | No | EVA | |
| rs482158256 | 882 | R>L | No | EVA | |
| rs445622436 | 886 | Y>S | No | EVA | |
| rs464160443 | 902 | S>P | No | EVA | |
| rs452948551 | 910 | D>A | No | EVA | |
| rs468331554 | 911 | L>P | No | EVA | |
| rs436562796 | 912 | L>C | No | EVA |
No associated diseases with A5D7D1
12 regional properties for A5D7D1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Actinin-type actin-binding domain, conserved site | 52 - 61 | IPR001589-1 |
| conserved_site | Actinin-type actin-binding domain, conserved site | 126 - 150 | IPR001589-2 |
| domain | Calponin homology domain | 50 - 154 | IPR001715-1 |
| domain | Calponin homology domain | 163 - 269 | IPR001715-2 |
| repeat | Spectrin repeat | 293 - 402 | IPR002017-1 |
| repeat | Spectrin repeat | 413 - 517 | IPR002017-2 |
| repeat | Spectrin repeat | 530 - 639 | IPR002017-3 |
| repeat | Spectrin repeat | 650 - 751 | IPR002017-4 |
| domain | EF-hand domain | 765 - 841 | IPR002048 |
| domain | EF-hand, Ca insensitive | 841 - 907 | IPR014837 |
| repeat | Spectrin/alpha-actinin | 296 - 754 | IPR018159 |
| binding_site | EF-Hand 1, calcium-binding site | 778 - 790 | IPR018247 |
Functions
11 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. |
| 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. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
3 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+). |
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
5 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. |
| peroxisome proliferator activated receptor signaling pathway | The series of molecular signals initiated by binding of a ligand to any of the peroxisome proliferator activated receptors (alpha, beta or gamma) in the nuclear membrane, and ending with the initiation or termination of the transcription of target genes. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| retinoic acid receptor signaling pathway | The series of molecular signals generated as a consequence of a retinoic acid receptor binding to one of its physiological ligands. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0III9 | ACTN3 | Alpha-actinin-3 | Bos taurus (Bovine) | SS |
| Q3B7N2 | ACTN1 | Alpha-actinin-1 | Bos taurus (Bovine) | SS |
| Q3ZC55 | ACTN2 | Alpha-actinin-2 | Bos taurus (Bovine) | SS |
| P20111 | ACTN2 | Alpha-actinin-2 | Gallus gallus (Chicken) | SS |
| P05094 | ACTN1 | Alpha-actinin-1 | Gallus gallus (Chicken) | SS |
| Q90734 | ACTN4 | Alpha-actinin-4 | Gallus gallus (Chicken) | SS |
| P18091 | Actn | Alpha-actinin, sarcomeric | Drosophila melanogaster (Fruit fly) | SS |
| P12814 | ACTN1 | Alpha-actinin-1 | Homo sapiens (Human) | SS |
| Q08043 | ACTN3 | Alpha-actinin-3 | Homo sapiens (Human) | SS |
| P35609 | ACTN2 | Alpha-actinin-2 | Homo sapiens (Human) | EV |
| O43707 | ACTN4 | Alpha-actinin-4 | Homo sapiens (Human) | SS |
| O88990 | Actn3 | Alpha-actinin-3 | Mus musculus (Mouse) | SS |
| Q7TPR4 | Actn1 | Alpha-actinin-1 | Mus musculus (Mouse) | SS |
| Q9JI91 | Actn2 | Alpha-actinin-2 | Mus musculus (Mouse) | SS |
| P57780 | Actn4 | Alpha-actinin-4 | 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 |
| MVDYHAANQS | YQYGPSSGSN | GAGGGGTMGD | YMAQEDDWDR | DLLLDPAWEK | QQRKTFTAWC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NSHLRKAGTQ | IENIDEDFRD | GLKLMLLLEV | ISGERLPKPE | RGKMRVHKIN | NVNKALDFIA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKGVKLVSIG | AEEIVDGNAK | MTLGMIWTII | LRFAIQDISV | EETSAKEGLL | LWCQRKTAPY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KNVNVQNFHI | SWKDGLAFNA | LIHRHRPELI | EYDKLRKDDP | VTNLNNAFEV | AEKYLDIPKM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LDAEDIVNTA | RPDEKAIMTY | VSSFYHAFSG | AQKAETAANR | ICKVLAVNQE | NEHLMEDYER |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LASDLLEWIR | RTIPWLEDRV | PQKTIQEMQQ | KLEDFRDYRR | VHKPPKVQEK | CQLEINFNTL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QTKLRLSNRP | AFMPSEGKMV | SDINNGWQHL | EQAEKGYEEW | LLNEIRRLER | LDHLAEKFRQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KASIHEAWTD | GKEAMLKHRD | YETATLSDIK | ALIRKHEAFE | SDLAAHQDRV | EQIAAIAQEL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NELDYYDSHN | VNTRCQKICD | QWDALGSLTH | SRREALEKTE | KQLETIDQLH | LEYAKRAAPF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NNWMESAMED | LQDMFIVHTI | EEIEGLISAH | DQFKSTLPDA | DREREAILAI | HKEAQRIAES |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NHIKLSGSNP | YTTVTPQIIN | SKWEKVQQLV | PKRDHALLEE | QSKQQSNEHL | RRQFASQANI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VGPWIQTKME | EIGRISIEMN | GTLEDQLSHL | KQYERSIVDY | KPNLDLLEQQ | HQLIQEALIF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DNKHTNYTME | HIRVGWEQLL | TTIARTINEV | ENQILTRDAK | GISQEQMQEF | RASFNHFDKD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HGGALGPEEF | KACLISLGYD | VENDRQGDAE | FNRIMSVVDP | NHSGLVTFQA | FIDFMSRETT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DTDTADQVIA | SFKVLAGDKN | FITAEELRRE | LPPDQAEYCI | ARMAPYQGPD | AVPGALDYKS |
| 910 | |||||
| FSTALYGESD | L |