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

80-783 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

4 structures for Q5SX39

Entry ID Method Resolution Chain Position Source
7NEP EM 1020 A L/M 32-844 PDB
7QIN EM 660 A L/M 1-848 PDB
7QIO EM 900 A L/M 1-848 PDB
AF-Q5SX39-F1 Predicted AlphaFoldDB

77 variants for Q5SX39

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3389143112 27 A>V No EVA
rs3389179648 28 Q>H No EVA
rs3389131215 109 R>P No EVA
rs3389166451 122 F>L No EVA
rs3389165654 124 V>I No EVA
rs3389179669 142 A>V No EVA
rs3389166437 151 A>S No EVA
rs3389170163 191 R>G No EVA
rs3389139051 235 N>I No EVA
rs3412715853 277 T>S No EVA
rs3389178018 288 I>N No EVA
rs3389166826 322 T>S No EVA
rs242431296 329 Q>H No EVA
rs3389177969 344 F>I No EVA
rs3389104970 363 G>E No EVA
rs3389166480 439 F>L No EVA
rs3389170092 457 Q>* No EVA
rs3389143114 485 N>Y No EVA
rs3389179653 503 E>* No EVA
rs3389131236 516 F>L No EVA
rs3389166637 537 L>P No EVA
rs3389174946 542 M>I No EVA
rs3389139096 569 P>A No EVA
rs3401988031 577 E>V No EVA
rs3412830569 585 Y>* No EVA
rs3389105027 627 G>R No EVA
rs3402352483 629 A>P No EVA
rs3400429643 665 N>D No EVA
rs3389131266 687 A>V No EVA
rs3389162465 735 P>H No EVA
rs3413128319 755 I>S No EVA
rs3389166486 763 G>A No EVA
rs3389166812 790 T>I No EVA
rs3389177999 804 E>D No EVA
rs3389131262 820 Y>C No EVA
rs3389170176 906 E>D No EVA
rs3402350812 910 D>V No EVA
rs245424813 938 A>S No EVA
rs3413061618 943 K>E No EVA
rs3389174945 985 E>K No EVA
rs26892342 1029 T>I No EVA
rs3389131302 1084 L>P No EVA
rs3389166440 1129 E>K No EVA
rs3389165681 1193 A>G No EVA
rs3389162461 1241 T>I No EVA
rs3389166814 1244 K>E No EVA
rs3389178030 1251 K>N No EVA
rs3402636561 1269 E>A No EVA
rs3402408207 1270 Q>L No EVA
rs3401752731 1271 Q>L No EVA
rs3401721639 1272 R>L No EVA
rs3402452603 1274 I>L No EVA
rs3402346131 1275 N>H No EVA
rs3402506491 1275 N>I No EVA
rs3389181661 1310 Q>R No EVA
rs3548823126 1336 A>T No EVA
rs3413000856 1341 R>C No EVA
rs3389162515 1357 A>T No EVA
rs3389170125 1389 E>K No EVA
rs3389165649 1413 S>T No EVA
rs3389166875 1418 L>H No EVA
rs3389162519 1419 E>V No EVA
rs3389143164 1499 L>F No EVA
rs3389178004 1502 L>S No EVA
rs3389154745 1542 S>I No EVA
rs3389131287 1562 I>F No EVA
rs3389181672 1610 R>S No EVA
rs3389166628 1611 S>I No EVA
rs3389166610 1628 E>D No EVA
rs3389143161 1657 T>I No EVA
rs3389165699 1658 Q>K No EVA
rs3389143091 1708 Q>* No EVA
rs3402350824 1768 M>I No EVA
rs3402327424 1771 E>V No EVA
rs3402636468 1905 H>L No EVA
rs3402506504 1906 E>V No EVA
rs3389170105 1923 K>E No EVA

No associated diseases with Q5SX39

3 regional properties for Q5SX39

Type Name Position InterPro Accession
domain Myosin head, motor domain 80 - 783 IPR001609
domain Myosin tail 850 - 1927 IPR002928
domain Myosin, N-terminal, SH3-like 33 - 82 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

4 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 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.
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
double-stranded RNA binding Binding to double-stranded RNA.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.

2 GO annotations of biological process

Name Definition
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.
response to activity Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an activity stimulus.

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
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
P11055 MYH3 Myosin-3 Homo sapiens (Human) SS
Q7Z406 MYH14 Myosin-14 Homo sapiens (Human) SS
Q9Y623 MYH4 Myosin-4 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
Q02566 Myh6 Myosin-6 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
Q9JLT0 Myh10 Myosin-10 Rattus norvegicus (Rat) SS
Q29RW1 Myh4 Myosin-4 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
MSSDAEMAVF GEAAPYLRKS EKERIEAQNK PFDAKSSVFV VDAKESYVKA TVQSREGGKV
70 80 90 100 110 120
TAKTEGGATV TVKDDQVFSM NPPKYDKIED MAMMTHLHEP AVLYNLKERY AAWMIYTYSG
130 140 150 160 170 180
LFCVTVNPYK WLPVYNPEVV AAYRGKKRQE APPHIFSISD NAYQFMLTDR ENQSILITGE
190 200 210 220 230 240
SGAGKTVNTK RVIQYFATIA VTGDKKKEEA TSGKMQGTLE DQIISANPLL EAFGNAKTVR
250 260 270 280 290 300
NDNSSRFGKF IRIHFGATGK LASADIETYL LEKSRVTFQL KAERSYHIFY QIMSNKKPEL
310 320 330 340 350 360
IEMLLITTNP YDFAYVSQGE ITVPSIDDQE ELMATDTAVD ILGFSADEKV AIYKLTGAVM
370 380 390 400 410 420
HYGNMKFKQK QREEQAEPDG TEVADKAAYL TSLNSADLLK ALCYPRVKVG NEYVTKGQTV
430 440 450 460 470 480
QQVYNSVGAL AKSMYEKMFL WMVTRINQQL DTKQPRQYFI GVLDIAGFEI FDFNTLEQLC
490 500 510 520 530 540
INFTNEKLQQ FFNHHMFVLE QEEYKKEGID WEFIDFGMDL AACIELIEKP MGIFSILEEE
550 560 570 580 590 600
CMFPKATDTS FKNKLYEQHL GKSNNFQKPK PAKGKAEAHF SLVHYAGTVD YNIIGWLDKN
610 620 630 640 650 660
KDPLNETVVG LYQKSGLKTL AFLFSGGQAA EAEGGGGKKG GKKKGSSFQT VSALFRENLN
670 680 690 700 710 720
KLMTNLKSTH PHFVRCLIPN ETKTPGAMEH ELVLHQLRCN GVLEGIRICR KGFPSRILYA
730 740 750 760 770 780
DFKQRYKVLN ASAIPEGQFI DSKKASEKLL GSIDIDHTQY KFGHTKVFFK AGLLGTLEEM
790 800 810 820 830 840
RDEKLAQLIT RTQAVCRGYL MRVEFKKMME RRESIFCIQY NVRAFMNVKH WPWMKLYFKI
850 860 870 880 890 900
KPLLKSAETE KEMANMKEDF EKAKEDLAKS EAKRKELEEK MVALMQEKND LQLQVQAEAD
910 920 930 940 950 960
GLADAEERCD QLIKTKIQLE AKIKELTERA EDEEEINAEL TAKKRKLEDE CSELKKDIDD
970 980 990 1000 1010 1020
LELTLAKVEK EKHATENKVK NLTEEMAGLD ENIAKLTKEK KALQEAHQQT LDDLQAEEDK
1030 1040 1050 1060 1070 1080
VNTLTKAKTK LEQQVDDLEG SLEQEKKLRM DLERAKRKLE GDLKLAQEST MDIENDKQQL
1090 1100 1110 1120 1130 1140
DEKLKKKEFE MSNLQSKIED EQALGMQLQK KIKELQARIE ELEEEIEAER ASRAKAEKQR
1150 1160 1170 1180 1190 1200
SDLSRELEEI SERLEEAGGA TSAQIEMNKK REAEFQKMRR DLEEATLQHE ATAAALRKKH
1210 1220 1230 1240 1250 1260
ADSVAELGEQ IDNLQRVKQK LEKEKSELKM EIDDLASNME TVSKAKGNLE KMCRTLEDQL
1270 1280 1290 1300 1310 1320
SEVKTKEEEQ QRLINELSTQ KARLHTESGE FSRQLDEKDA MVSQLSRGKQ AFTQQIEELK
1330 1340 1350 1360 1370 1380
RQLEEESKAK NALAHALQSA RHDCDLLREQ YEEEQEAKAE LQRAMSKANS EVAQWRTKYE
1390 1400 1410 1420 1430 1440
TDAIQRTEEL EEAKKKLAQR LQDAEEHVEA VNSKCASLEK TKQRLQNEVE DLMIDVERSN
1450 1460 1470 1480 1490 1500
AACAALDKKQ RNFDKVLAEW KQKYEETQAE LEASQKESRS LSTELFKVKN AYEESLDQLE
1510 1520 1530 1540 1550 1560
TLKRENKNLQ QEISDLTEQI AEGGKHIHEL EKIKKQIDQE KSELQASLEE AEASLEHEEG
1570 1580 1590 1600 1610 1620
KILRIQLELN QVKSEIDRKI AEKDEEIDQL KRNHLRVVES MQSTLDAEIR SRNDALRIKK
1630 1640 1650 1660 1670 1680
KMEGDLNEME IQLNHANRQA AEAIRNLRNT QGMLKDTQLH LDDALRGQDD LKEQLAMVER
1690 1700 1710 1720 1730 1740
RANLMQAEIE ELRASLEQTE RSRRVAEQEL LDASERVQLL HTQNTSLINT KKKLETDISQ
1750 1760 1770 1780 1790 1800
IQGEMEDIVQ EARNAEEKAK KAITDAAMMA EELKKEQDTS AHLERMKKNM EQTVKDLQHR
1810 1820 1830 1840 1850 1860
LDEAEQLALK GGKKQIQKLE ARVRELENEV ENEQKRNIEA VKGLRKHERR VKELTYQTEE
1870 1880 1890 1900 1910 1920
DRKNVLRLQD LVDKLQTKVK AYKRQAEEAE EQSNVNLAKF RKIQHELEEA EERADIAESQ
1930
VNKLRVKSRE VHTKVISEE