Descriptions

Myosin-7 (MYH7, also named Myosin heavy chain, cardiac muscle β isoform) is an actin-based motor molecule with ATPase activity essential for muscle contraction. Several mutations in MYH7 are frequent causes of hypertrophic cardiomyopathy (HCM), a disease characterized by hypercontractility and eventual hypertrophy of the left ventricle. Many HCM-causing mutations appear to reduce myosin's ability to form an autoinhibited state. In an autoinhibited state, the myosin heads fold back onto their own subfragment 2 (S2) tail in a conformation known as the interacting heads motif (IHM). One of the two heads in the dimer has its actin-binding interface buried in the folded structure; this head is referred to as the blocked head, while the other is called the free head, since its actin-binding interface is not hidden structurally. Many myosin types have the folded back IHM structure. The IHM structure correlates to an ultra-low basal ATPase rate in the absence of an action called the 'super relaxed state'. Heads lacking the S2 tail mostly have a faster basal ATPase rate referred to as the 'disordered relaxed state'. Especially, mutations in the myosin lever arm or the pliant region of the lever arm can affect myosin function either by altering its intrinsic motor activity, and/or reducing its ability to form the autoinhibited state.

Autoinhibitory domains (AIDs)

Target domain

80-780 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P13541

Entry ID Method Resolution Chain Position Source
AF-P13541-F1 Predicted AlphaFoldDB

99 variants for P13541

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3389160769 24 R>K No EVA
rs3401719605 33 D>E No EVA
rs3389141988 67 S>I No EVA
rs3402344599 69 T>S No EVA
rs3402429195 71 V>A No EVA
rs263338525 86 D>N No EVA
rs3389130165 123 C>Y No EVA
rs3389168501 157 S>P No EVA
rs3389169505 160 D>H No EVA
rs3389163747 197 A>T No EVA
rs3389130210 202 T>I No EVA
rs3389141989 202 T>S No EVA
rs3389165421 251 I>N No EVA
rs3389154033 259 L>P No EVA
rs3389160724 271 K>R No EVA
rs3402406359 325 D>V No EVA
rs260326630 327 A>S No EVA
rs3389179699 335 S>N No EVA
rs3389179632 346 E>K No EVA
rs3389130226 348 S>A No EVA
rs3389166457 353 L>M No EVA
rs3389130230 370 R>W No EVA
rs3389173503 373 Q>K No EVA
rs3389141994 380 E>D No EVA
rs3389141947 443 R>H No EVA
rs3412920792 448 L>V No EVA
rs3389141952 449 D>G No EVA
rs3389141952 449 D>V No EVA
rs216425257 456 H>Y No EVA
rs3402351540 487 Q>L No EVA
rs3389179677 528 P>R No EVA
rs3389154046 556 Q>* No EVA
rs3389141963 581 V>M No EVA
rs3389169471 657 N>S No EVA
rs29406055 683 G>W No EVA
rs3389176235 706 C>Y No EVA
rs3389141960 725 V>M No EVA
rs3389176243 727 N>D No EVA
rs3389166802 728 A>V No EVA
rs3389168520 731 I>F No EVA
rs3389168520 731 I>V No EVA
rs3402121094 732 P>R No EVA
rs3402326968 732 P>S No EVA
rs26922340 733 E>D No EVA
rs3389169466 740 K>* No EVA
rs3389166469 751 D>Y No EVA
rs3389130190 776 E>* No EVA
rs3401751701 791 A>G No EVA
rs3389179688 797 L>R No EVA
rs3389166409 801 E>V No EVA
rs3389137576 805 M>K No EVA
rs26922337 819 I>V No EVA
rs3389176304 852 T>I No EVA
rs3389130153 863 E>D No EVA
rs3548711778 865 A>V No EVA
rs3389179709 890 L>I No EVA
rs3389154716 967 K>N No EVA
rs3389179676 1061 K>M No EVA
rs3402429198 1104 Q>K No EVA
rs3389166454 1148 S>N No EVA
rs3402351491 1189 T>A No EVA
rs3389154705 1189 T>M No EVA
rs3389169499 1195 K>M No EVA
rs3389169478 1228 E>D No EVA
rs228526428 1267 M>I No EVA
rs249762635 1267 M>T No EVA
rs252329899 1267 M>V No EVA
rs3389160740 1297 S>N No EVA
rs3389165382 1323 E>K No EVA
rs3389130231 1348 Y>N No EVA
rs3389163708 1374 T>I No EVA
rs3389130158 1394 L>V No EVA
rs231224139 1408 V>I No EVA
rs3389168468 1414 S>P No EVA
rs3389137615 1440 A>V No EVA
rs3548636585 1442 A>T No EVA
rs26922314 1451 D>E No EVA
rs26922305 1477 S>T No EVA
rs3389160782 1499 V>M No EVA
rs3389173504 1516 Q>* No EVA
rs3389173534 1523 S>G No EVA
rs3389166852 1538 K>E No EVA
rs3389163722 1542 Q>L No EVA
rs3389163702 1547 E>K No EVA
rs3389173515 1560 L>I No EVA
rs3389173550 1562 I>N No EVA
rs237002129 1578 A>S No EVA
rs3389166452 1601 A>V No EVA
rs3389141955 1652 K>N No EVA
rs3413063893 1677 R>C No EVA
rs3548636566 1684 A>S No EVA
rs3389160711 1695 Q>* No EVA
rs253465494 1708 L>F No EVA
rs3389173558 1768 E>Q No EVA
rs3389168486 1769 E>K No EVA
rs3389166811 1784 K>E No EVA
rs3389154739 1815 K>* No EVA
rs3389141979 1822 E>K No EVA
rs3389160713 1877 K>N No EVA

No associated diseases with P13541

12 regional properties for P13541

Type Name Position InterPro Accession
domain RNA polymerase sigma-70 403 - 416 IPR000943-1
domain RNA polymerase sigma-70 427 - 435 IPR000943-2
domain RNA polymerase sigma-70 551 - 563 IPR000943-3
domain RNA polymerase sigma-70 572 - 598 IPR000943-4
domain RNA polymerase sigma factor 70, region 1.1 4 - 79 IPR007127
domain RNA polymerase sigma-70 region 3 458 - 533 IPR007624
domain RNA polymerase sigma-70 region 2 379 - 448 IPR007627
domain RNA polymerase sigma-70 region 4 547 - 600 IPR007630
domain RNA polymerase sigma factor 70, non-essential domain 137 - 348 IPR007631
domain RNA polymerase sigma-70 region 1.2 96 - 126 IPR009042
domain RNA polymerase sigma factor RpoD, C-terminal 375 - 611 IPR012760
domain RNA polymerase sigma-70 like domain 375 - 600 IPR014284

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, myofibril
  • Thick filaments of the myofibrils
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
contractile fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism.
myosin complex A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes.
myosin filament A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament.
myosin II complex A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures.

5 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.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.

3 GO annotations of biological process

Name Definition
ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator.
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.
skeletal muscle contraction A process in which force is generated within skeletal 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. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control.

46 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BE40 MYH1 Myosin-1 Bos taurus (Bovine) SS
Q9BE41 MYH2 Myosin-2 Bos taurus (Bovine) SS
Q27991 MYH10 Myosin-10 Bos taurus (Bovine) SS
Q9BE39 MYH7 Myosin-7 Bos taurus (Bovine) SS
P10587 MYH11 Myosin-11 Gallus gallus (Chicken) SS
P14105 MYH9 Myosin-9 Gallus gallus (Chicken) SS
P02565 MYH1B Myosin-1B Gallus gallus (Chicken) SS
P13538 Myosin heavy chain, skeletal muscle, adult Gallus gallus (Chicken) SS
Q99323 zip Myosin heavy chain, non-muscle Drosophila melanogaster (Fruit fly) SS
P05661 Mhc Myosin heavy chain, muscle Drosophila melanogaster (Fruit fly) SS
P35579 MYH9 Myosin-9 Homo sapiens (Human) SS
P12882 MYH1 Myosin-1 Homo sapiens (Human) SS
Q9UKX2 MYH2 Myosin-2 Homo sapiens (Human) SS
Q9Y623 MYH4 Myosin-4 Homo sapiens (Human) SS
A7E2Y1 MYH7B Myosin-7B Homo sapiens (Human) SS
Q9Y2K3 MYH15 Myosin-15 Homo sapiens (Human) SS
P12883 MYH7 Myosin-7 Homo sapiens (Human) EV
P35580 MYH10 Myosin-10 Homo sapiens (Human) SS
P35749 MYH11 Myosin-11 Homo sapiens (Human) SS
P13535 MYH8 Myosin-8 Homo sapiens (Human) SS
P13533 MYH6 Myosin-6 Homo sapiens (Human) SS
Q9UKX3 MYH13 Myosin-13 Homo sapiens (Human) SS
Q7Z406 MYH14 Myosin-14 Homo sapiens (Human) SS
P11055 MYH3 Myosin-3 Homo sapiens (Human) SS
A2AQP0 Myh7b Myosin-7B Mus musculus (Mouse) SS
P13542 Myh8 Myosin-8 Mus musculus (Mouse) SS
Q02566 Myh6 Myosin-6 Mus musculus (Mouse) SS
Q5SX39 Myh4 Myosin-4 Mus musculus (Mouse) SS
Q5SX40 Myh1 Myosin-1 Mus musculus (Mouse) SS
Q61879 Myh10 Myosin-10 Mus musculus (Mouse) SS
Q8VDD5 Myh9 Myosin-9 Mus musculus (Mouse) SS
Q91Z83 Myh7 Myosin-7 Mus musculus (Mouse) SS
Q6URW6 Myh14 Myosin-14 Mus musculus (Mouse) SS
O08638 Myh11 Myosin-11 Mus musculus (Mouse) SS
P79293 MYH7 Myosin-7 Sus scrofa (Pig) SS
Q9TV63 MYH2 Myosin-2 Sus scrofa (Pig) SS
P02563 Myh6 Myosin-6 Rattus norvegicus (Rat) SS
P02564 Myh7 Myosin-7 Rattus norvegicus (Rat) SS
Q62812 Myh9 Myosin-9 Rattus norvegicus (Rat) SS
Q29RW1 Myh4 Myosin-4 Rattus norvegicus (Rat) SS
Q9JLT0 Myh10 Myosin-10 Rattus norvegicus (Rat) SS
P12847 Myh3 Myosin-3 Rattus norvegicus (Rat) SS
P02566 unc-54 Myosin-4 Caenorhabditis elegans SS
P02567 myo-1 Myosin-1 Caenorhabditis elegans SS
P12844 myo-3 Myosin-3 Caenorhabditis elegans SS
P12845 myo-2 Myosin-2 Caenorhabditis elegans SS
10 20 30 40 50 60
MSSDTEMEVF GIAAPFLRKS EKERIEAQNQ PFDAKTYCFV VDSKEEYVKG KIKSSQDGKV
70 80 90 100 110 120
TVETEDSRTL VVKPEDVYAM NPPKFDKIED MAMLTHLNEP AVLYNLKDRY TSWMIYTYSG
130 140 150 160 170 180
LFCVTVNPYK WLPVYNPEVV DGYRGKKRQE APPHIFSISD NAYQFMLTDR ENQSILITGE
190 200 210 220 230 240
SGAGKTVNTK RVIQYFATIA ATGDLAKKKD SKMKGTLEDQ IISANPLLEA FGNAKTVRND
250 260 270 280 290 300
NSSRFGKFIR IHFGTTGKLA SADIETYLLE KSRVTFQLKA ERSYHIFYQI LSNKKPELIE
310 320 330 340 350 360
LLLITTNPYD YPFISQGEIL VASIDDAEEL LATDSAIDIL GFTPEEKSGL YKLTGAVMHY
370 380 390 400 410 420
GNMKFKQKQR EEQAEPDGTE VADKTAYLMG LNSSDLLKAL CFPRVKVGNE YVTKGQTVDQ
430 440 450 460 470 480
VHHAVNALSK SVYEKLFLWM VTRINQQLDT KLPRQHFIGV LDIAGFEIFE YNSLEQLCIN
490 500 510 520 530 540
FTNEKLQQFF NHHMFVLEQE EYKKEGIEWT FIDFGMDLAA CIELIEKPMG IFSILEEECM
550 560 570 580 590 600
FPKATDTSFK NKLYDQHLGK SNNFQKPKVV KGKAEAHFSL VHYAGTVDYS VSGWLEKNKD
610 620 630 640 650 660
PLNETVVGLY QKSSNRLLAH LYATFATTDA DGGKKKVAKK KGSSFQTVSA LFRENLNKLM
670 680 690 700 710 720
SNLRTTHPHF VRCIIPNETK TPGAMEHSLV LHQLRCNGVL EGIRICRKGF PNRILYGDFK
730 740 750 760 770 780
QRYRVLNASA IPEGQFIDSK KACEKLLASI DIDHTQYKFG HTKVFFKAGL LGTLEEMRDE
790 800 810 820 830 840
RLAKLITRTQ AVCRGFLMRV EFQKMMQRRE SIFCIQYNIR AFMNVKHWPW MKLFFKIKPL
850 860 870 880 890 900
LKSAETEKEM ATMKEEFQKT KDELAKSEAK RKELEEKLVT LVQEKNDLQL QVQAESENLL
910 920 930 940 950 960
DAEERCDQLI KAKFQLEAKI KEVTERAEDE EEINAELTAK KRKLEDECSE LKKDIDDLEL
970 980 990 1000 1010 1020
TLAKVEKEKH ATENKVKNLT EELAGLDETI AKLTREKKAL QEAHQQTLDD LQAEEDKVNS
1030 1040 1050 1060 1070 1080
LSKLKSKLEQ QVDDLESSLE QEKKLRVDLE RNKRKLEGDL KLAQESILDL ENDKQQLDER
1090 1100 1110 1120 1130 1140
LKKKDFEYSQ LQSKVEDEQT LSLQLQKKIK ELQARIEELE EEIEAERATR AKTEKQRSDY
1150 1160 1170 1180 1190 1200
ARELEELSER LEEAGGVTST QIELNKKREA EFLKLRRDLE EATLQHEATV ATLRKKHADS
1210 1220 1230 1240 1250 1260
AAELAEQIDN LQRVKQKLEK EKSEFKLEID DLSSSVESVS KSKANLEKIC RTLEDQLSEA
1270 1280 1290 1300 1310 1320
RGKNEEMQRS LSELTTQKSR LQTEAGELSR QLEEKESIVS QLSRSKQAFT QQIEELKRQL
1330 1340 1350 1360 1370 1380
EEENKAKNAL AHALQSSRHD CDLLREQYEE EQEGKAELQR ALSKANSEVA QWRTKYETDA
1390 1400 1410 1420 1430 1440
IQRTEELEEA KKKLAQRLQD SEEQVEAVNA KCASLEKTKQ RLQGEVEDLM VDVERANSLA
1450 1460 1470 1480 1490 1500
AALDKKQRNF DKVLAEWKTK CEESQAELEA ALKESRSLST ELFKLKNAYE EALDQLETVK
1510 1520 1530 1540 1550 1560
RENKNLEQEI ADLTEQIAEN GKSIHELEKS RKQMELEKAD IQMALEEAEA ALEHEEAKIL
1570 1580 1590 1600 1610 1620
RIQLELTQVK SEIDRKIAEK DEEIEQLKRN YQRTVETMQG ALDAEVRSRN EAIRLKKKME
1630 1640 1650 1660 1670 1680
GDLNEIEIQL SHANRQAAET IKHLRSVQGQ LKDTQLHLDD ALRGQEDLKE QLAIVERRAN
1690 1700 1710 1720 1730 1740
LLQAEVEELR ATLEQTERAR KLAEQELLDS NERVQLLHTQ NTSLIHTKKK LETDLTQLQS
1750 1760 1770 1780 1790 1800
EVEDACRDAR NAEEKAKKAI TDAAMMAEEL KKEQDTSAHL ERMKKNLEQT VKDLQHRLDE
1810 1820 1830 1840 1850 1860
AEQLALKGGK KQIQKLETRI RELEFELEGE QKRNTESVKG LRKYERRVKE LTYQSEEDRK
1870 1880 1890 1900 1910 1920
NVLRLQDLVD KLQVKVKSYK RQAEEADEQA NAHLTKFRKA QHELEEAEER ADIAESQVNK
1930
LRAKTRDFTS SRMVVHESEE