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

95-805 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q6URW6

Entry ID Method Resolution Chain Position Source
AF-Q6URW6-F1 Predicted AlphaFoldDB

93 variants for Q6URW6

Variant ID(s) Position Change Description Diseaes Association Provenance
rs214815728 14 A>S No EVA
rs3388893766 96 N>K No EVA
rs3388904517 218 P>R No EVA
rs3397913664 251 A>V No EVA
rs3397824295 268 K>* No EVA
rs3388879966 315 A>V No EVA
rs3398010399 356 L>Q No EVA
rs3397705475 359 L>Q No EVA
rs3388910402 404 L>I No EVA
rs3388899304 432 Q>H No EVA
rs3388902247 436 T>I No EVA
rs3388906820 440 A>* No EVA
rs3388904556 446 A>V No EVA
rs3397903391 468 D>A No EVA
rs3388893729 480 I>T No EVA
rs3388899234 514 M>L No EVA
rs3388907054 642 W>* No EVA
rs3388879982 650 G>W No EVA
rs3388902215 686 M>I No EVA
rs3412937746 710 K>* No EVA
rs3397840002 720 L>P No EVA
rs3397705476 722 C>Y No EVA
rs3388903457 745 F>Y No EVA
rs3388887023 755 N>Y No EVA
rs3388910426 799 L>* No EVA
rs3388909831 802 E>G No EVA
rs3388904505 817 A>P No EVA
rs3397902899 885 V>F No EVA
rs3397902899 885 V>L No EVA
rs3397851779 890 Q>H No EVA
rs3397606515 890 Q>L No EVA
rs3388879971 911 T>M No EVA
rs3388893715 930 T>S No EVA
rs3388893764 932 A>G No EVA
rs3388897024 956 E>V No EVA
rs3388906823 992 L>M No EVA
rs3388866950 1043 V>F No EVA
rs3388906813 1047 N>I No EVA
rs3388907024 1049 L>P No EVA
rs3388904507 1131 L>P No EVA
rs3388904547 1133 S>F No EVA
rs3388866986 1146 E>* No EVA
rs3388906845 1161 Q>* No EVA
rs3397869831 1177 E>G No EVA
rs3388902222 1207 E>V No EVA
rs3388897015 1227 V>A No EVA
rs3388879932 1254 V>M No EVA
rs3388886993 1273 Q>* No EVA
rs3388903492 1347 E>K No EVA
rs3388909797 1354 A>T No EVA
rs3388910437 1366 A>T No EVA
rs3388867020 1376 E>G No EVA
rs3397850837 1396 E>* No EVA
rs3397913657 1396 E>A No EVA
rs3398009664 1396 E>D No EVA
rs3397785080 1402 E>G No EVA
rs3388906876 1404 E>D No EVA
rs3388906554 1408 L>RDG* No EVA
rs3388906545 1441 R>* No EVA
rs3388887941 1521 E>K No EVA
rs3388888008 1528 R>H No EVA
rs3388906558 1545 G>D No EVA
rs3388906574 1554 A>V No EVA
rs39811174 1557 A>V No EVA
rs3397840018 1564 D>H No EVA
rs3388906512 1583 K>N No EVA
rs3397844620 1602 Q>* No EVA
rs3388906565 1612 R>W No EVA
rs261473541 1639 A>S No EVA
rs3397704702 1644 E>Q No EVA
rs3388904561 1660 G>D No EVA
rs3388910366 1708 A>G No EVA
rs3398009672 1737 E>G No EVA
rs3388909861 1739 A>V No EVA
rs221060532 1757 G>V No EVA
rs3388903430 1787 V>I No EVA
rs3388902203 1796 A>V No EVA
rs3388903485 1798 R>G No EVA
rs3388887982 1839 A>T No EVA
rs3388909866 1855 S>C No EVA
rs3388893732 1856 R>S No EVA
rs3388904483 1866 R>H No EVA
rs3397844633 1887 D>H No EVA
rs3397902873 1888 Q>L No EVA
rs3397704669 1890 R>P No EVA
rs3388903450 1896 S>G No EVA
rs3388906833 1909 E>* No EVA
rs3398009646 1924 L>M No EVA
rs3388903446 1927 E>D No EVA
rs3388866960 1933 E>D No EVA
rs3388885458 1934 S>P No EVA
rs3388903500 1947 N>I No EVA
rs223333527 1983 P>L No EVA

No associated diseases with Q6URW6

4 regional properties for Q6URW6

Type Name Position InterPro Accession
binding_site IQ motif, EF-hand binding site 806 - 828 IPR000048
domain Myosin head, motor domain 95 - 805 IPR001609
domain Myosin tail 869 - 1949 IPR002928
domain Myosin, N-terminal, SH3-like 47 - 97 IPR004009

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
brush border The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
growth cone The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
myelin sheath An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells
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.
myosin II filament A bipolar filament composed of myosin II molecules.
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.

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.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.
molecular adaptor activity The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.

10 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.
actomyosin structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
mitochondrion organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.
mitotic cytokinesis A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
neuronal action potential An action potential that occurs in a neuron.
regulation of cell shape Any process that modulates the surface configuration of a cell.
sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.
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.
skeletal muscle tissue development The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are
vocalization behavior The behavior in which an organism produces sounds by a mechanism involving its respiratory system.

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
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
P10587 MYH11 Myosin-11 Gallus gallus (Chicken) SS
P05661 Mhc Myosin heavy chain, muscle Drosophila melanogaster (Fruit fly) SS
Q99323 zip Myosin heavy chain, non-muscle Drosophila melanogaster (Fruit fly) 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
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
P35579 MYH9 Myosin-9 Homo sapiens (Human) SS
P35580 MYH10 Myosin-10 Homo sapiens (Human) SS
P35749 MYH11 Myosin-11 Homo sapiens (Human) SS
Q7Z406 MYH14 Myosin-14 Homo sapiens (Human) SS
P13541 Myh3 Myosin-3 Mus musculus (Mouse) SS
Q5SX39 Myh4 Myosin-4 Mus musculus (Mouse) SS
P13542 Myh8 Myosin-8 Mus musculus (Mouse) SS
Q5SX40 Myh1 Myosin-1 Mus musculus (Mouse) SS
Q91Z83 Myh7 Myosin-7 Mus musculus (Mouse) SS
Q02566 Myh6 Myosin-6 Mus musculus (Mouse) SS
A2AQP0 Myh7b Myosin-7B Mus musculus (Mouse) SS
Q61879 Myh10 Myosin-10 Mus musculus (Mouse) SS
Q8VDD5 Myh9 Myosin-9 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
P12844 myo-3 Myosin-3 Caenorhabditis elegans SS
P02567 myo-1 Myosin-1 Caenorhabditis elegans SS
P12845 myo-2 Myosin-2 Caenorhabditis elegans SS
10 20 30 40 50 60
MAAVTMSVSG RKVASRPGPV PEAAQSFLYA PRTPNVGGPG GPQVEWTARR MVWVPSELHG
70 80 90 100 110 120
FEAAALRDEG EEEAEVELAE SGRRLRLPRD QIQRMNPPKF SKAEDMAELT CLNEASVLHN
130 140 150 160 170 180
LRERYYSGLI YTYSGLFCVV INPYKQLPIY TEAIVEMYRG KKRHEVPPHV YAVTEGAYRS
190 200 210 220 230 240
MLQDREDQSI LCTGESGAGK TENTKKVIQY LAHVASSPKG RKEPGVPASV STMSYGELER
250 260 270 280 290 300
QLLQANPILE AFGNAKTVKN DNSSRFGKFI RINFDIAGYI VGANIETYLL EKSRAIRQAK
310 320 330 340 350 360
DECSFHIFYQ LLGGAGEQLK ADLLLEPCSH YRFLTNGPSS SPGQERELFQ ETLESLRVLG
370 380 390 400 410 420
LLPEEITAML RTVSAVLQFG NIVLKKERNT DQATMPDNTA AQKLCRLLGL GVTDFSRALL
430 440 450 460 470 480
TPRIKVGRDY VQKAQTKEQA DFALEALAKA TYERLFRWLV LRLNRALDRS PRQGASFLGI
490 500 510 520 530 540
LDIAGFEIFQ LNSFEQLCIN YTNEKLQQLF NHTMFVLEQE EYQREGIPWT FLDFGLDLQP
550 560 570 580 590 600
CIDLIERPAN PPGLLALLDE ECWFPKATDK SFVEKVAQEQ GSHPKFQRPR NLRDQADFSV
610 620 630 640 650 660
LHYAGKVDYK ASEWLMKNMD PLNDNVAALL HQSTDRLTAE IWKDVEGIVG LEQVSSLGDG
670 680 690 700 710 720
PPGGRPRRGM FRTVGQLYKE SLSRLMATLS NTNPSFVRCI VPNHEKRAGK LEPRLVLDQL
730 740 750 760 770 780
RCNGVLEGIR ICRQGFPNRI LFQEFRQRYE ILTPNAIPKG FMDGKQACEK MIQALELDPN
790 800 810 820 830 840
LYRVGQSKIF FRAGVLAQLE EERDLKVTDI IVSFQAAARG YLARRAFQRR QQQQSALRVM
850 860 870 880 890 900
QRNCAAYLKL RNWQWWRLFI KVKPLLQVTR QDEVLQARAQ ELQKVQELQQ QSAREVGELQ
910 920 930 940 950 960
GRVAQLEEER TRLAEQLRAE AELCSEAEET RARLAARKQE LELVVTELEA RVGEEEECSR
970 980 990 1000 1010 1020
QLQSEKKRLQ QHIQELESHL EAEEGARQKL QLEKVTTEAK MKKFEEDLLL LEDQNSKLSK
1030 1040 1050 1060 1070 1080
ERRLLEERLA EFSSQAAEEE EKVKSLNKLR LKYEATISDM EDRLKKEEKG RQELEKLKRR
1090 1100 1110 1120 1130 1140
LDGESSELQE QMVEQKQRAE ELLAQLGRKE DELQAALLRA EEEGGARAQL LKSLREAQAG
1150 1160 1170 1180 1190 1200
LAEAQEDLEA ERVARAKAEK QRRDLGEELE ALRGELEDTL DSTNAQQELR SKREQEVTEL
1210 1220 1230 1240 1250 1260
KKALEEESRA HEVSMQELRQ RHSQALVEMA EQLEQARRGK GVWEKTRLSL EAEVSELKAE
1270 1280 1290 1300 1310 1320
LSSLQTSRQE GEQKRRRLES QLQEVQGRSS DSERARSEAA EKLQRAQAEL ESVSTALSEA
1330 1340 1350 1360 1370 1380
ESKAIRLGKE LSSAESQLHD TQELLQEETR AKLALGSRVR ALEAEAAGLR EQMEEEVVAR
1390 1400 1410 1420 1430 1440
ERAGRELQST QAQLSEWRRR QEEEAAVLEA GEEARRRAAR EAETLTQRLA EKTEAVERLE
1450 1460 1470 1480 1490 1500
RARRRLQQEL DDATVDLGQQ KQLLSTLEKK QRKFDQLLAE EKAAVLRAVE DRERIEAEGR
1510 1520 1530 1540 1550 1560
EREARALSLT RALEEEQEAR EELERQNRAL RAELEALLSS KDDVGKNVHE LERARKAAEQ
1570 1580 1590 1600 1610 1620
AASDLRTQVT ELEDELTAAE DAKLRLEVTV QALKAQHERD LQGRDDAGEE RRRQLAKQLR
1630 1640 1650 1660 1670 1680
DAEVERDEER KQRALAMAAR KKLELELEEL KAQTSAAGQG KEEAVKQLKK MQVQMKELWR
1690 1700 1710 1720 1730 1740
EVEETRSSRD EMFTLSRENE KKLKGLEAEV LRLQEELAAS DRARRQAQQD RDEMAEEVAS
1750 1760 1770 1780 1790 1800
GNLSKAATLE EKRQLEGRLS QLEEELEEEQ NNSELLKDHY RKLVLQVESL TTELSAERSF
1810 1820 1830 1840 1850 1860
SAKAESGRQQ LERQIQELRA RLGEEDAGAR ARQKMLIAAL ESKLAQAEEQ LEQESRERIL
1870 1880 1890 1900 1910 1920
SGKLVRRAEK RLKEVVLQVD EERRVADQVR DQLEKSNLRL KQLKRQLEEA EEEASRAQAG
1930 1940 1950 1960 1970 1980
RRRLQRELED VTESAESMNR EVTTLRNRLR RGPLTFTTRT VRQVFRLEEG VASDEEEAEG
1990
AEPGSAPGQE PEAPPPATPQ