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

82-782 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P13542

Entry ID Method Resolution Chain Position Source
AF-P13542-F1 Predicted AlphaFoldDB

85 variants for P13542

Variant ID(s) Position Change Description Diseaes Association Provenance
rs26892237 3 A>T No EVA
rs3389143119 11 I>S No EVA
rs3389166856 42 V>M No EVA
rs3389169608 87 Y>F No EVA
rs3507967517 112 Y>C No EVA
rs3389139040 120 Y>F No EVA
rs3389166492 120 Y>N No EVA
rs3389105032 153 A>S No EVA
rs3389162495 161 S>T No EVA
rs3389170126 162 D>H No EVA
rs3389170104 184 G>R No EVA
rs3389131278 195 I>F No EVA
rs3389143118 199 A>V No EVA
rs3389143163 211 E>D No EVA
rs3401987965 283 E>G No EVA
rs3402350813 286 Y>D No EVA
rs3389174864 289 F>L No EVA
rs3389165682 308 T>I No EVA
rs3389166635 329 Q>H No EVA
rs3389169658 398 L>M No EVA
rs3402636546 496 M>V No EVA
rs3389154717 536 I>T No EVA
rs48166581 572 T>A No EVA
rs3389169683 584 H>Y No EVA
rs3389166470 633 D>Y No EVA
rs3389174917 667 S>N No EVA
rs3389166841 673 V>I No EVA
rs3389178033 681 T>M No EVA
rs3389170161 701 V>M No EVA
rs3389104977 703 E>K No EVA
rs3389169621 711 G>R No EVA
rs3389170145 723 Q>* No EVA
rs3389169690 746 E>D No EVA
rs3389169609 780 R>S No EVA
rs3389181627 856 K>N No EVA
rs3389174920 858 E>G No EVA
rs3389166796 872 K>M No EVA
rs3402327337 878 E>V No EVA
rs3401721649 879 K>Q No EVA
rs3402346127 882 T>I No EVA
rs3402430709 883 L>F No EVA
rs3402350841 885 K>* No EVA
rs3402408195 885 K>I No EVA
rs3402452593 885 K>N No EVA
rs3411191410 901 L>* No EVA
rs3389169643 928 R>M No EVA
rs3389143117 967 V>I No EVA
rs3389166834 988 L>M No EVA
rs233293646 991 N>T No EVA
rs26937550 1028 T>I No EVA
rs3389131244 1045 K>R No EVA
rs3389174942 1055 K>* No EVA
rs3389143132 1074 N>S No EVA
rs3389154755 1091 S>R No EVA
rs3401987962 1261 E>D No EVA
rs3548665695 1287 A>E No EVA
rs3548655389 1291 S>A No EVA
rs3389169681 1307 S>N No EVA
rs3389170118 1337 Q>L No EVA
rs3389165644 1344 D>N No EVA
rs3389104960 1378 Y>N No EVA
rs3389166665 1381 D>E No EVA
rs3389178003 1396 L>M No EVA
rs3389178051 1421 K>R No EVA
rs3389165689 1428 V>M No EVA
rs3389166846 1434 D>V No EVA
rs3389166413 1558 E>* No EVA
rs3389166658 1569 N>K No EVA
rs261347503 1580 A>S No EVA
rs3389166607 1592 N>Y No EVA
rs26937527 1594 V>I No EVA
rs1132990921 1599 T>S No EVA
rs3389165653 1635 A>V No EVA
rs3389166539 1673 Q>K No EVA
rs3389170089 1675 A>V No EVA
rs3389170116 1716 V>M No EVA
rs3389139091 1724 T>R No EVA
rs262965134 1784 R>Q No EVA
rs3507969038 1789 M>L No EVA
rs3389170112 1825 L>F No EVA
rs3389143124 1830 E>G No EVA
rs3389174855 1844 R>T No EVA
rs3389104997 1878 V>M No EVA
rs3389143160 1883 R>K No EVA
rs3389166426 1912 R>W No EVA

No associated diseases with P13542

4 regional properties for P13542

Type Name Position InterPro Accession
binding_site IQ motif, EF-hand binding site 783 - 805 IPR000048
domain Myosin head, motor domain 82 - 782 IPR001609
domain Myosin tail 849 - 1926 IPR002928
domain Myosin, N-terminal, SH3-like 35 - 84 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

5 GO annotations of cellular component

Name Definition
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.

4 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
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.

4 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.
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.
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
P13538 Myosin heavy chain, skeletal muscle, adult Gallus gallus (Chicken) SS
P02565 MYH1B Myosin-1B 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
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
P13535 MYH8 Myosin-8 Homo sapiens (Human) SS
A2AQP0 Myh7b Myosin-7B Mus musculus (Mouse) SS
P13541 Myh3 Myosin-3 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
P12847 Myh3 Myosin-3 Rattus norvegicus (Rat) 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
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
MSAGSDAEMA IFGEAAPYLR KSEKERIEAQ NKPFDAKTSV FVAEPKESYV KSVIQSKDGG
70 80 90 100 110 120
KVTVKTESGA TLTVKEDQVF PMNPPKYDKI EDMAMMTHLH EPGVLYNLKE RYAAWMIYTY
130 140 150 160 170 180
SGLFCVTVNP YKWLPVYNPE VVAAYRGKKR QEAPPHIFSI SDNAYQFMLT DRENQSILIT
190 200 210 220 230 240
GESGAGKTVN TKRVIQYFAT IAVTGDKKKE ESGKMQGTLE DQIISANPLL EAFGNAKTVR
250 260 270 280 290 300
NDNSSRFGKF IRIHFGTTGK LASADIETYL LEKSRVTFQL KAERSYHIFY QITSNKKPEL
310 320 330 340 350 360
IEMLLITTNP YDYAFVSQGE ITVPSIDDQE ELMATDSAID ILGFSPEEKV SIYKLTGAVM
370 380 390 400 410 420
HYGNMKFKQK QREEQAEPDG TEVADKAAYL QCLNSADLLK ALCYPRVKVG NEYVTKGQTV
430 440 450 460 470 480
QQVYNAVGAL AKAVYEKMFL WMVTRINQQL DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC
490 500 510 520 530 540
INFTNEKLQQ FFNHHMFVLE QEEYKKEGIE WTFIDFGMDL AACIELIEKP LGIFSILEEE
550 560 570 580 590 600
CMFPKATDTS FKNKLYDQHL GKSNNFQKPK PTKGKAEAHF SLVHYAGTVD YNITGWLDKN
610 620 630 640 650 660
KDPLNDTVVG LYQKSAMKTL ASLFSTYASA EADGGAKKGA KKKGSSFQTV SALFRENLNK
670 680 690 700 710 720
LMTNLRSTHP HFVRCIIPNE TKTPGAMEHE LVLHQLRCNG VLEGIRICRK GFPSRILYGD
730 740 750 760 770 780
FKQRYKVLNA SAIPEGQFID SKKASEKLLG SIDIDHTQYK FGHTKVFFKA GLLGLLEEMR
790 800 810 820 830 840
DEKLAQIITR TQAVCRGYLM RVEYQKMLLR RESIFCIQYN VRAFMNVKHW PWMKLFFKIK
850 860 870 880 890 900
PLLKSAETEK EMATMKEEFQ KTKDELAKSE AKRKELEEKM VTLLKEKNDL QLQVQSEADS
910 920 930 940 950 960
LADAEERCEQ LIKNKIQLEA KIKEVTERAE DEEEINAELT AKKRKLEDEC SELKKDIDDL
970 980 990 1000 1010 1020
ELTLAKVEKE KHATENKVKN LTEEMAGLDE NIAKLTKEKK ALQEAHQQTL DDLQAEEDKV
1030 1040 1050 1060 1070 1080
NTLTKAKTKL EQQVDDLEGS LEQEKKLRMD LERAKRKLEG DLKLAQESTM DIENDKQQLD
1090 1100 1110 1120 1130 1140
EKLKKKEFEI SNLISKIEDE QAVEIQLQKK IKELQARIEE LEEEIEAERA SRAKAEKQRS
1150 1160 1170 1180 1190 1200
DLSRELEEIS ERLEEAGGAT SAQVEMNKKR ETEFQKLRRD LEEATLQHEA TAAALRKKHA
1210 1220 1230 1240 1250 1260
DSVAELGEQI DNLQRVKQKL EKEKSELKME IDDLSSNAEA IAKAKGNLEK MCRTLEDQVS
1270 1280 1290 1300 1310 1320
ELKSKEEEQQ RLINELTAQR ARLQTEAGEY SRQLDEKDAL VSQLSRSKQA STQQIEELKR
1330 1340 1350 1360 1370 1380
QLEEETKAKN ALAHALQSSR HDCDLLREQY EEEQEGKAEL QRALSKANSE VAQWRTKYET
1390 1400 1410 1420 1430 1440
DAIQRTEELE EAKKKLAQRL QAAEEHVEAV NAKCASLEKT KQRLQNEVED LMIDVERTNA
1450 1460 1470 1480 1490 1500
ACAALDKKQR NFDKVLSEWR QKYEETQAEL ESCQKESRTL STELFKVKNA YEESLDHLET
1510 1520 1530 1540 1550 1560
LRRENKNLQQ EISDLTEQIA EGGKHIHELE KIKKQVEQEK CEIQAALEEA EASLEHEEGK
1570 1580 1590 1600 1610 1620
ILRIQLELNQ VKSEIDRKIA EKDEEIDQLK RNHVRVVETM QSTLDAEIRS RNDALRVKKK
1630 1640 1650 1660 1670 1680
MEGDLNEMEI QLNHANRLAA ESLRNYRNTQ GILKDTQLHL DDALRGQEDL KEQLAIVERR
1690 1700 1710 1720 1730 1740
ANLLQAEIEE LRATLEQTER SRKIAEQELL DASERVQLLH TQNTSLINTK KKLENDVSQL
1750 1760 1770 1780 1790 1800
QSEVEEVIQE SRNAEEKAKK AITDAAMMAE ELKKEQDTSA HLERMKKNME QTVKDLQHRL
1810 1820 1830 1840 1850 1860
DEAEQLALKG GKKQIQKLEA RVRELEGEVE NEQKRNAEAV KGLRKHERRV KELTYQTEED
1870 1880 1890 1900 1910 1920
RKNVLRLQDL VDKLQAKVKS YKRQAEEAEE QSNANLAKFR KLQHELEEAE ERADIAESQV
1930
NKLRVKSREV HTKISAE