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

79-781 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q02566

Entry ID Method Resolution Chain Position Source
AF-Q02566-F1 Predicted AlphaFoldDB

94 variants for Q02566

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3389324435 44 E>K No EVA
rs3389254162 56 G>R No EVA
rs3389329120 101 V>M No EVA
rs3389340064 107 E>G No EVA
rs3389294188 142 Y>* No EVA
rs3389320553 144 G>D No EVA
rs3412733111 155 F>L No EVA
rs3389254139 179 E>* No EVA
rs3389331477 186 V>A No EVA
194 Y>D No
rs3404886358 202 G>R No EVA
rs3404886338 215 G>AL* No EVA
rs3389301234 262 A>E No EVA
rs3403672239 268 L>* No EVA
rs3389283418 290 I>N No EVA
rs3389345275 293 N>Y No EVA
rs3389311506 339 V>M No EVA
rs3389254166 347 K>N No EVA
rs3389329947 355 G>W No EVA
rs3389345266 384 K>I No EVA
rs3389329936 405 V>L No EVA
rs3389294146 414 K>R No EVA
rs3389320562 430 K>R No EVA
rs3389324394 442 T>I No EVA
rs3389340033 487 Q>* No EVA
rs3389292758 501 E>D No EVA
rs3389328747 506 G>D No EVA
rs51409882 510 E>Q No EVA
rs3389311490 512 I>F No EVA
rs3389311420 540 M>I No EVA
545 S>A No
rs3389331329 548 T>I No EVA
rs3389320544 644 S>L No EVA
rs3389311435 647 Q>K No EVA
rs3389340067 664 L>P No EVA
rs3405206210 668 H>Q No EVA
rs3389325470 698 N>S No EVA
rs3389331254 733 P>R No EVA
rs3389340093 738 I>F No EVA
rs3389254217 756 N>S No EVA
rs3389311504 759 K>R No EVA
rs3405025797 768 K>E No EVA
rs3404683321 772 L>D No EVA
rs3389311452 818 W>* No EVA
rs3389301230 819 N>K No EVA
rs3389331298 819 N>R No EVA
rs3389331326 821 R>G No EVA
838 I>S No
rs3389325471 853 N>K No EVA
rs3405123047 855 K>* No EVA
rs3389283495 969 E>D No EVA
rs3389340042 1021 T>R No EVA
rs3389327460 1108 K>M No EVA
rs3411396280 1117 I>VSDG* No EVA
rs3389340081 1120 L>V No EVA
rs3389329893 1121 E>G No EVA
rs3389283457 1128 R>G No EVA
rs3389334434 1130 A>V No EVA
rs3389334509 1156 G>S No EVA
rs3389340059 1171 A>P No EVA
rs3389325484 1198 H>R No EVA
rs3389292725 1230 L>M No EVA
rs3389325517 1243 A>D No EVA
rs51588902 1279 R>Q No EVA
rs3389345326 1302 Q>P No EVA
rs3389325529 1365 K>T No EVA
rs3389324388 1367 N>S No EVA
rs3389320522 1475 E>D No EVA
rs3389334438 1481 T>I No EVA
rs3389327422 1487 K>E No EVA
rs3389329975 1490 Y>F No EVA
rs3389329934 1546 L>M No EVA
rs3389301203 1562 R>H No EVA
rs3389325508 1567 F>I No EVA
rs3389325540 1576 R>W No EVA
rs3389327423 1586 E>K No EVA
rs3389254209 1588 A>T No EVA
rs3389292712 1594 R>W No EVA
rs3389292753 1640 E>D No EVA
rs3389320554 1649 Q>K No EVA
rs232793606 1651 H>L No EVA
rs3389327464 1696 Q>H No EVA
rs3389324703 1706 Q>* No EVA
rs3389320563 1715 V>M No EVA
rs3404683318 1737 T>S No EVA
rs3389324415 1789 E>V No EVA
rs3389324392 1790 Q>K No EVA
rs3389334491 1836 A>VSDG* No EVA
rs3389324428 1840 K>E No EVA
rs3389327388 1863 L>S No EVA
rs3389327384 1892 N>S No EVA
rs3389328748 1909 E>K No EVA
rs3389331250 1917 S>Y No EVA
rs3389324445 1934 M>K No EVA

No associated diseases with Q02566

3 regional properties for Q02566

Type Name Position InterPro Accession
domain Myosin head, motor domain 79 - 781 IPR001609
domain Myosin tail 848 - 1925 IPR002928
domain Myosin, N-terminal, SH3-like 32 - 81 IPR004009

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

8 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
muscle myosin complex A filament of myosin found in a muscle cell of any type.
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.
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.

8 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.
calcium-dependent ATPase 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.
identical protein binding Binding to an identical protein or proteins.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein-containing complex binding Binding to a macromolecular complex.

20 GO annotations of biological process

Name Definition
actin filament-based movement Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins.
adult heart development The process whose specific outcome is the progression of the adult heart over time, from its formation to the mature structure.
ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator.
atrial cardiac muscle tissue morphogenesis The process in which the anatomical structure of cardiac atrium muscle is generated and organized.
cardiac muscle cell development The process whose specific outcome is the progression of a cardiac muscle cell over time, from its formation to the mature state.
cardiac muscle contraction Muscle contraction of cardiac muscle tissue.
cardiac muscle hypertrophy in response to stress The physiological enlargement or overgrowth of all or part of the heart muscle due to an increase in size (not length) of individual cardiac muscle fibers, without cell division, as a result of a disturbance in organismal or cellular homeostasis.
in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
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.
muscle filament sliding The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated.
myofibril assembly Formation of myofibrils, the repeating units of striated muscle.
regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of heart contraction Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body.
regulation of heart growth Any process that modulates the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart.
regulation of heart rate Any process that modulates the frequency or rate of heart contraction.
regulation of the force of heart contraction Any process that modulates the extent of heart contraction, changing the force with which blood is propelled.
sarcomere organization The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.
striated muscle contraction A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. 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. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope.
ventricular cardiac muscle tissue morphogenesis The process in which the anatomical structures of cardiac ventricle muscle is generated and organized.
visceral muscle development The process whose specific outcome is the progression of the visceral muscle over time, from its formation to the mature structure.

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
Q9UKX3 MYH13 Myosin-13 Homo sapiens (Human) SS
P11055 MYH3 Myosin-3 Homo sapiens (Human) SS
Q7Z406 MYH14 Myosin-14 Homo sapiens (Human) SS
P13533 MYH6 Myosin-6 Homo sapiens (Human) SS
A2AQP0 Myh7b Myosin-7B Mus musculus (Mouse) SS
P13541 Myh3 Myosin-3 Mus musculus (Mouse) SS
P13542 Myh8 Myosin-8 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
P12847 Myh3 Myosin-3 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
P02563 Myh6 Myosin-6 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
MTDAQMADFG AAAQYLRKSE KERLEAQTRP FDIRTECFVP DDKEEYVKAK VVSREGGKVT
70 80 90 100 110 120
AETENGKTVT IKEDQVMQQN PPKFDKIEDM AMLTFLHEPA VLYNLKERYA AWMIYTYSGL
130 140 150 160 170 180
FCVTVNPYKW LPVYNAEVVA AYRGKKRSEA PPHIFSISDN AYQYMLTDRE NQSILITGES
190 200 210 220 230 240
GAGKTVNTKR VIQYFASIAA IGDRSKKENP NANKGTLEDQ IIQANPALEA FGNAKTVRND
250 260 270 280 290 300
NSSRFGKFIR IHFGATGKLA SADIETYLLE KSRVIFQLKA ERNYHIFYQI LSNKKPELLD
310 320 330 340 350 360
MLLVTNNPYD YAFVSQGEVS VASIDDSEEL LATDSAFDVL SFTAEEKAGV YKLTGAIMHY
370 380 390 400 410 420
GNMKFKQKQR EEQAEPDGTE DADKSAYLMG LNSADLLKGL CHPRVKVGNE YVTKGQSVQQ
430 440 450 460 470 480
VYYSIGALAK SVYEKMFNWM VTRINATLET KQPRQYFIGV LDIAGFEIFD FNSFEQLCIN
490 500 510 520 530 540
FTNEKLQQFF NHHMFVLEQE EYKKEGIEWE FIDFGMDLQA CIDLIEKPMG IMSILEEECM
550 560 570 580 590 600
FPKASDMTFK AKLYDNHLGK SNNFQKPRNV KGKQEAHFSL VHYAGTVDYN IMGWLEKNKD
610 620 630 640 650 660
PLNETVVGLY QKSSLKLMAT LFSTYASADT GDSGKGKGGK KKGSSFQTVS ALHRENLNKL
670 680 690 700 710 720
MTNLKTTHPH FVRCIIPNER KAPGVMDNPL VMHQLRCNGV LEGIRICRKG FPNRILYGDF
730 740 750 760 770 780
RQRYRILNPA AIPEGQFIDS RKGAEKLLGS LDIDHNQYKF GHTKVFFKAG LLGLLEEMRD
790 800 810 820 830 840
ERLSRIITRI QAQARGQLMR IEFKKIVERR DALLVIQWNI RAFMGVKNWP WMKLYFKIKP
850 860 870 880 890 900
LLKSAETEKE MANMKEEFGR VKDALEKSEA RRKELEEKMV SLLQEKNDLQ LQVQAEQDNL
910 920 930 940 950 960
NDAEERCDQL IKNKIQLEAK VKEMTERLED EEEMNAELTA KKRKLEDECS ELKKDIDDLE
970 980 990 1000 1010 1020
LTLAKVEKEK HATENKVKNL TEEMAGLDEI IAKLTKEKKA LQEAHQQALD DLQAEEDKVN
1030 1040 1050 1060 1070 1080
TLTKSKVKLE QQVDDLEGSL EQEKKVRMDL ERAKRKLEGD LKLTQESIMD LENDKLQLEE
1090 1100 1110 1120 1130 1140
KLKKKEFDIS QQNSKIEDEQ ALALQLQKKL KENQARIEEL EEELEAERTA RAKVEKLRSD
1150 1160 1170 1180 1190 1200
LSRELEEISE RLEEAGGATS VQIEMNKKRE AEFQKMRRDL EEATLQHEAT AAALRKKHAD
1210 1220 1230 1240 1250 1260
SVAELGEQID NLQRVKQKLE KEKSEFKLEL DDVTSNMEQI IKAKANLEKV SRTLEDQANE
1270 1280 1290 1300 1310 1320
YRVKLEEAQR SLNDFTTQRA KLQTENGELA RQLEEKEALI SQLTRGKLSY TQQMEDLKRQ
1330 1340 1350 1360 1370 1380
LEEEGKAKNA LAHALQSSRH DCDLLREQYE EEMEAKAELQ RVLSKANSEV AQWRTKYETD
1390 1400 1410 1420 1430 1440
AIQRTEELEE AKKKLAQRLQ DAEEAVEAVN AKCSSLEKTK HRLQNEIEDL MVDVERSNAA
1450 1460 1470 1480 1490 1500
AAALDKKQRN FDKILAEWKQ KYEESQSELE SSQKEARSLS TELFKLKNAY EESLEHLETF
1510 1520 1530 1540 1550 1560
KRENKNLQEE ISDLTEQLGE GGKNVHELEK IRKQLEVEKL ELQSALEEAE ASLEHEEGKI
1570 1580 1590 1600 1610 1620
LRAQLEFNQI KAEIERKLAE KDEEMEQAKR NHLRMVDSLQ TSLDAETRSR NEALRVKKKM
1630 1640 1650 1660 1670 1680
EGDLNEMEIQ LSQANRIASE AQKHLKNSQA HLKDTQLQLD DAVHANDDLK ENIAIVERRN
1690 1700 1710 1720 1730 1740
NLLQAELEEL RAVVEQTERS RKLAEQELIE TSERVQLLHS QNTSLINQKK KMESDLTQLQ
1750 1760 1770 1780 1790 1800
TEVEEAVQEC RNAEEKAKKA ITDAAMMAEE LKKEQDTSAH LERMKKNMEQ TIKDLQHRLD
1810 1820 1830 1840 1850 1860
EAEQIALKGG KKQLQKLEAR VRELENELEA EQKRNAESVK GMRKSERRIK ELTYQTEEDK
1870 1880 1890 1900 1910 1920
KNLMRLQDLV DKLQLKVKAY KRQAEEAEEQ ANTNLSKFRK VQHELDEAEE RADIAESQVN
1930
KLRAKSRDIG AKKMHDEE