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

79-779 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q91Z83

Entry ID Method Resolution Chain Position Source
8Q6T EM 1800 A A/B/H/N/O/Q 1-1935 PDB
AF-Q91Z83-F1 Predicted AlphaFoldDB

103 variants for Q91Z83

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3412243646 9 F>L No EVA
rs3389325498 13 A>T No EVA
rs3389340095 50 K>* No EVA
rs48351040 54 R>* No EVA
rs3389331478 88 E>K No EVA
rs3389301201 94 T>A No EVA
rs3389329127 126 N>Y No EVA
rs3389331471 133 V>L No EVA
rs3389329141 238 N>T No EVA
rs3389320575 290 L>M No EVA
rs3389333187 356 I>V No EVA
rs3389345283 362 M>T No EVA
rs3389345287 365 K>R No EVA
rs3405119310 403 R>* No EVA
rs3405095885 408 N>K No EVA
rs3404887354 413 K>* No EVA
rs3404365762 418 Q>P No EVA
rs3389311511 418 Q>R No EVA
rs3389325531 423 A>V No EVA
rs3389325469 426 A>G No EVA
rs3389294128 439 M>T No EVA
rs3389329189 453 R>C No EVA
rs3389294145 479 N>K No EVA
rs3389301236 488 F>L No EVA
rs3389329186 496 L>M No EVA
rs3389331484 496 L>RDG* No EVA
rs3389283413 500 E>G No EVA
rs3389301199 505 G>D No EVA
rs3389320583 524 I>N No EVA
rs3389331517 590 I>T No EVA
rs3389324407 593 W>C No EVA
rs3389311440 598 K>* No EVA
rs3389324430 652 R>I No EVA
rs3389320584 654 N>I No EVA
rs3389336634 665 T>M No EVA
rs3405116066 687 P>H No EVA
rs3389340082 717 D>G No EVA
rs3389345244 720 Q>R No EVA
rs3389336637 727 P>S No EVA
rs3389311455 735 F>L No EVA
rs3389331499 791 Q>* No EVA
rs3389283467 814 I>F No EVA
rs3389329144 831 K>M No EVA
rs3389320546 877 M>I No EVA
rs3389283414 883 E>G No EVA
rs3389254201 937 T>I No EVA
rs3389345300 943 L>Q No EVA
rs3389301263 960 T>M No EVA
rs3389329182 968 K>R No EVA
rs3389301221 981 E>V No EVA
rs3389340025 982 M>I No EVA
rs3389331213 982 M>R No EVA
rs3389320542 983 A>D No EVA
rs3389345325 1013 E>* No EVA
rs3389254165 1041 E>G No EVA
rs3389325456 1042 K>R No EVA
rs3389336560 1062 T>M No EVA
rs3389324421 1067 M>V No EVA
rs3389345313 1118 L>* No EVA
rs3389320560 1121 E>V No EVA
rs3389331508 1123 E>G No EVA
rs3404886357 1142 E>G No EVA
rs3389340035 1173 K>* No EVA
rs3389331462 1209 N>S No EVA
rs3389311442 1223 E>G No EVA
rs3389328752 1237 Q>L No EVA
rs3389345314 1266 T>R No EVA
rs3389283462 1290 Q>E No EVA
rs3389331265 1290 Q>E No EVA
rs3389336617 1292 D>E No EVA
rs3389340089 1292 D>G No EVA
rs3389324469 1319 L>P No EVA
rs3389331263 1365 N>I No EVA
rs3389325451 1384 E>D No EVA
rs3389340037 1438 A>T No EVA
rs3389283487 1445 K>R No EVA
rs3389336615 1468 E>D No EVA
rs3389331521 1474 A>G No EVA
rs3389328738 1486 N>K No EVA
rs3389329163 1486 N>S No EVA
rs3389328736 1494 H>R No EVA
rs3389294203 1524 H>L No EVA
rs3389331510 1535 A>V No EVA
rs3389294169 1553 H>Y No EVA
rs3389329206 1592 R>Q No EVA
rs3389283497 1596 S>C No EVA
rs3389324422 1606 R>C No EVA
rs3389254054 1612 L>P No EVA
rs3389311460 1615 K>R No EVA
rs3389340030 1636 A>T No EVA
rs3389301196 1647 Q>H No EVA
rs3389325462 1661 V>I No EVA
rs3389331272 1668 K>R No EVA
rs3389331459 1685 L>* No EVA
rs3405178761 1715 L>Q No EVA
rs3389336588 1771 K>T No EVA
rs3389301167 1830 Q>K No EVA
rs3389331506 1854 T>R No EVA
rs3410819109 1855 E>* No EVA
rs3389254175 1869 D>G No EVA
rs3389254195 1910 A>V No EVA
rs3389311441 1912 I>T No EVA
rs3389311483 1919 K>M No EVA

No associated diseases with Q91Z83

3 regional properties for Q91Z83

Type Name Position InterPro Accession
domain Myosin head, motor domain 79 - 779 IPR001609
domain Myosin tail 846 - 1923 IPR002928
domain Myosin, N-terminal, SH3-like 32 - 81 IPR004009

Functions

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

9 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.
sarcomere 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.
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.

7 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.
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-containing complex binding Binding to a macromolecular complex.

14 GO annotations of biological process

Name Definition
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.
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.
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.
regulation of heart rate Any process that modulates the frequency or rate of heart contraction.
regulation of slow-twitch skeletal muscle fiber contraction Any process that modulates the frequency, rate or extent of slow-twitch skeletal muscle 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.
regulation of the force of skeletal muscle contraction Any process that modulates the frequency, rate or extent of the force of skeletal muscle contraction. The force of skeletal muscle contraction is produced by acto-myosin interaction processes through the formation of cross bridges.
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.
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.
transition between fast and slow fiber The process of conversion of fast-contracting muscle fibers to a slower character. This may involve slowing of contractile rate, slow myosin gene induction, increase in oxidative metabolic properties, altered electrophysiology and altered innervation. This process also regulates skeletal muscle adapatation.
ventricular cardiac muscle tissue morphogenesis The process in which the anatomical structures of cardiac ventricle muscle is generated and organized.

48 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
P49824 MYH7 Myosin-7 Canis lupus familiaris (Dog) (Canis familiaris) SS
Q99323 zip Myosin heavy chain, non-muscle Drosophila melanogaster (Fruit fly) SS
P05661 Mhc Myosin heavy chain, muscle Drosophila melanogaster (Fruit fly) SS
Q8MJU9 MYH7 Myosin-7 Equus caballus (Horse) 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
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
P11055 MYH3 Myosin-3 Homo sapiens (Human) SS
Q7Z406 MYH14 Myosin-14 Homo sapiens (Human) SS
P12883 MYH7 Myosin-7 Homo sapiens (Human) EV
A2AQP0 Myh7b Myosin-7B Mus musculus (Mouse) SS
P13541 Myh3 Myosin-3 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
Q6URW6 Myh14 Myosin-14 Mus musculus (Mouse) SS
O08638 Myh11 Myosin-11 Mus musculus (Mouse) SS
Q9TV63 MYH2 Myosin-2 Sus scrofa (Pig) SS
P79293 MYH7 Myosin-7 Sus scrofa (Pig) SS
P12847 Myh3 Myosin-3 Rattus norvegicus (Rat) SS
P02563 Myh6 Myosin-6 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
P02564 Myh7 Myosin-7 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
MADAEMAAFG AAAPFLRKSE KERLEAQTRP FDLKKDVFVP DDKEEFVKAK IVSREGGKVT
70 80 90 100 110 120
AETENGKTVT VKEDQVMQQN PPKFDKIEDM AMLTFLHEPA VLYNLKERYA SWMIYTYSGL
130 140 150 160 170 180
FCVTVNPYKW LPVYNAEVVA AYRGKKRSEA PPHIFSISDN AYQYMLTDRE NQSILITGES
190 200 210 220 230 240
GAGKTVNTKR VIQYFAVIAA IGDRSKKDQT PGKGTLEDQI IQANPALEAF GNAKTVRNDN
250 260 270 280 290 300
SSRFGKFIRI HFGATGKLAS ADIETYLLEK SRVIFQLKAE RDYHIFYQIL SNKKPELLDM
310 320 330 340 350 360
LLITNNPYDY AFISQGETTV ASIDDSEELM ATDSAFDVLG FTPEEKNSIY KLTGAIMHFG
370 380 390 400 410 420
NMKFKQKQRE EQAEPDGTEE ADKSAYLMGL NSADLLKGLC HPRVKVGNEY VTKGQNVQQV
430 440 450 460 470 480
SYAIGALAKS VYEKMFNWMV TRINATLETK QPRQYFIGVL DIAGFEIFDF NSFEQLCINF
490 500 510 520 530 540
TNEKLQQFFN HHMFVLEQEE YKKEGIEWTF IDFGMDLQAC IDLIEKPMGI MSILEEECMF
550 560 570 580 590 600
PKATDMTFKA KLYDNHLGKS NNFQKPRNVK GKQEAHFSLV HYAGTVDYNI LGWLQKNKDP
610 620 630 640 650 660
LNETVVGLYQ KSSLKLLSNL FANYAGADAP ADKGKGKAKK GSSFQTVSAL HRENLNKLMT
670 680 690 700 710 720
NLRSTHPHFV RCIIPNETKS PGVMDNPLVM HQLRCNGVLE GIRICRKGFP NRILYGDFRQ
730 740 750 760 770 780
RYRILNPAAI PEGQFIDSRK GAEKLLGSLD IDHNQYKFGH TKVFFKAGLL GLLEEMRDER
790 800 810 820 830 840
LSRIITRIQA QSRGVLSRME FKKLLERRDS LLIIQWNIRA FMGVKNWPWM KLYFKIKPLL
850 860 870 880 890 900
KSAETEKEMA TMKEEFGRVK DALEKSEARR KELEEKMVSL LQEKNDLQLQ VQAEQDNLAD
910 920 930 940 950 960
AEERCDQLIK NKIQLEAKVK EMTERLEDEE EMNAELTAKK RKLEDECSEL KRDIDDLELT
970 980 990 1000 1010 1020
LAKVEKEKHA TENKVKNLTE EMAGLDEIIV KLTKEKKALQ EAHQQALDDL QAEEDKVNTL
1030 1040 1050 1060 1070 1080
TKAKVKLEQQ VDDLEGSLEQ EKKVRMDLER AKRKLEGDLK LTQESIMDLE NDKQQLDERL
1090 1100 1110 1120 1130 1140
KKKDFELNAL NARIEDEQAL GSQLQKKLKE LQARIEELEE ELEAERTARA KVEKLRSDLS
1150 1160 1170 1180 1190 1200
RELEEISERL EEAGGATSVQ IEMNKKREAE FQKMRRDLEE ATLQHEATAA ALRKKHADSV
1210 1220 1230 1240 1250 1260
AELGEQIDNL QRVKQKLEKE KSEFKLELDD VTSNMEQIIK AKANLEKMCR TLEDQMNEHR
1270 1280 1290 1300 1310 1320
SKAEETQRSV NDLTSQRAKL QTENGELSRQ LDEKEALISQ LTRGKLTYTQ QLEDLKRQLE
1330 1340 1350 1360 1370 1380
EEVKAKNALA HALQSARHDC DLLREQYEEE TEAKAELQRV LSKANSEVAQ WRTKYETDAI
1390 1400 1410 1420 1430 1440
QRTEELEEAK KKLAQRLQDA EEAVEAVNAK CSSLEKTKHR LQNEIEDLMV DVERSNAAAA
1450 1460 1470 1480 1490 1500
ALDKKQRNFD KILAEWKQKY EESQSELESS QKEARSLSTE LFKLKNAYEE SLEHLETFKR
1510 1520 1530 1540 1550 1560
ENKNLQEEIS DLTEQLGSTG KSIHELEKIR KQLEAEKLEL QSALEEAEAS LEHEEGKILR
1570 1580 1590 1600 1610 1620
AQLEFNQIKA EIERKLAEKD EEMEQAKRNH LRMVDSLQTS LDAETRSRNE ALRVKKKMEG
1630 1640 1650 1660 1670 1680
DLNEMEIQLS HANRMAAEAQ KQVKSLQSLL KDTQIQLDDA VRANDDLKEN IAIVERRNNL
1690 1700 1710 1720 1730 1740
LQAELEELRA VVEQTERSRK LAEQELIETS ERVQLLHSQN TSLINQKKKM DADLSQLQTE
1750 1760 1770 1780 1790 1800
VEEAVQECRN AEEKAKKAIT DAAMMAEELK KEQDTSAHLE RMKKNMEQTI KDLQHRLDEA
1810 1820 1830 1840 1850 1860
EQIALKGGKK QLQKLEARVR ELENELEAEQ KRNAESVKGM RKSERRIKEL TYQTEEDRKN
1870 1880 1890 1900 1910 1920
LLRLQDLVDK LQLKVKAYKR QAEEAEEQAN TNLSKFRKVQ HELDEAEERA DIAESQVNKL
1930
RAKSRDIGAK GLNEE