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

78-786 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for A2AQP0

Entry ID Method Resolution Chain Position Source
AF-A2AQP0-F1 Predicted AlphaFoldDB

83 variants for A2AQP0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388597009 2 M>L No EVA
rs3388606054 24 V>A No EVA
rs3388605258 34 R>W No EVA
rs3388604432 47 A>T No EVA
rs3388595563 73 T>K No EVA
rs3392425186 73 T>S No EVA
rs3388606042 94 H>Y No EVA
rs241921556 212 A>S No EVA
rs3388606650 258 T>S No EVA
rs3388607460 310 P>A No EVA
rs3388601147 316 C>Y No EVA
rs3388598625 345 S>N No EVA
rs3388595510 360 L>M No EVA
rs3388596089 361 H>Y No EVA
rs3388606584 376 A>T No EVA
rs3388596942 421 E>D No EVA
rs3388605275 456 R>G No EVA
rs3388601630 470 I>V No EVA
rs3388605785 488 L>Q No EVA
rs3392443008 527 I>L No EVA
rs3392133148 528 E>D No EVA
rs3388606619 539 E>G No EVA
rs3388603021 570 R>C No EVA
rs3388595517 589 V>E No EVA
rs3388602977 623 T>A No EVA
rs3388605568 638 K>N No EVA
rs3388601143 648 A>P No EVA
rs3388605537 675 H>R No EVA
rs3388595549 689 G>R No EVA
rs3388601137 708 G>R No EVA
rs3388605798 710 R>Q No EVA
rs3388603096 710 R>W No EVA
rs3388598645 716 F>L No EVA
rs3388601642 719 R>T No EVA
rs3392466275 726 R>K No EVA
rs3392466275 726 R>M No EVA
rs27308725 792 L>V No EVA
rs3388604388 809 Q>K No EVA
rs3388601659 812 L>P No EVA
rs3388605593 869 A>V No EVA
rs3388605559 883 T>I No EVA
rs3388598586 891 K>* No EVA
rs3388605302 911 R>S No EVA
rs230626814 941 A>V No EVA
rs3388605607 989 M>V No EVA
rs3388605517 994 E>* No EVA
rs223751089 995 A>S No EVA
rs3388604431 1013 A>P No EVA
rs3388596105 1068 L>V No EVA
rs3388603072 1102 E>D No EVA
rs3388604399 1103 D>E No EVA
rs3388597002 1112 Q>* No EVA
rs3388604390 1154 S>N No EVA
rs3388606643 1223 K>R No EVA
rs27308711 1354 H>Q No EVA
rs3388605290 1443 T>S No EVA
rs3388596106 1473 E>D No EVA
rs215441285 1501 A>G No EVA
rs3392414292 1501 A>S No EVA
rs215441285 1501 A>V No EVA
rs3392443048 1503 E>Q No EVA
rs3392363212 1506 K>N No EVA
rs3388606578 1534 E>D No EVA
rs1133397072 1559 E>A No EVA
rs259099503 1560 L>M No EVA
rs3388605540 1601 V>M No EVA
rs3388596982 1611 E>V No EVA
rs27308701 1614 A>S No EVA
rs3388605308 1625 M>I No EVA
rs3388590051 1644 M>K No EVA
rs3388601641 1718 E>K No EVA
rs3388604379 1747 E>D No EVA
rs3388606646 1760 E>G No EVA
rs3388605558 1794 E>D No EVA
rs27308695 1858 V>A No EVA
rs3388605731 1878 L>P No EVA
rs3388604435 1880 S>C No EVA
rs3388605710 1881 K>M No EVA
rs3388597301 1885 Y>N No EVA
rs3388602980 1899 N>T No EVA
rs3388601111 1905 K>M No EVA
rs3388595551 1926 K>E No EVA
rs3388595513 1942 E>R No EVA

No associated diseases with A2AQP0

5 regional properties for A2AQP0

Type Name Position InterPro Accession
domain SH2 domain 12 - 102 IPR000980
domain SH3 domain 123 - 183 IPR001452-1
domain SH3 domain 235 - 296 IPR001452-2
domain CRK, N-terminal SH3 domain 126 - 180 IPR035457
domain CRK, C-terminal SH3 domain 237 - 293 IPR035458

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cardiac myofibril A cardiac myofibril is a myofibril specific to cardiac muscle cells.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
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.

3 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.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.

4 GO annotations of biological process

Name Definition
regulation of calcium-mediated signaling Any process that modulates the frequency, rate or extent of calcium-mediated signaling, the process in which a cell uses calcium ions to convert an extracellular signal into a response.
regulation of CAMKK-AMPK signaling cascade Any process that modulates the frequency, rate or extent of CAMKK-AMPK signaling cascade.
regulation of cardiac muscle cell contraction Any process that modulates the frequency, rate or extent of cardiac muscle cell contraction.
regulation of cytosolic calcium ion concentration Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings.

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
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
A7E2Y1 MYH7B Myosin-7B Homo sapiens (Human) 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
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
MMDMSELGES ACYLRQGYQE MMKVHTVPWD GKKRVWVPDE QDAYVEAEVK TEATGGKVTV
70 80 90 100 110 120
ETKDQKVLTV RETEMQPMNP PRFDLLEDMA MMTHLNEAAV LHNLRQRYAR WMIYTYSGLF
130 140 150 160 170 180
CVTINPYKWL PVYTAAVVAA YKGKRRSEAP PHIYAVADNA YNDMLRNREN QSMLITGESG
190 200 210 220 230 240
AGKTVNTKRV IQYFAIVAAL GDGPGKKAQF LATKTGGTLE DQIIEANPAM EAFGNAKTLR
250 260 270 280 290 300
NDNSSRFGKF IRIHFGPTGK LASADIDSYL LEKSRVIFQL PGERGYHVYY QILSGKKPEL
310 320 330 340 350 360
QDMLLLSMNP YDYHFCSQGV TTVDNMDDGE ELIATDHAMD ILGFSVDEKC ACYKIVGALL
370 380 390 400 410 420
HFGNMKFKQK QREEQAEADG TESADKAAYL MGVSSGDLLK GLLHPRVRVG NEYVTKGQSV
430 440 450 460 470 480
EQVVFAVGAL AKATYDRLFR WLVSRINQTL DTKLPRQFFI GVLDIAGFEI FEFNSFEQLC
490 500 510 520 530 540
INFTNEKLQQ FFNQHMFVLE QEEYKREGID WVFIDFGLDL QPCIDLIEKP LGILSILEEE
550 560 570 580 590 600
CMFPKASDAS FRAKLYDNHS GKSPNFQQPR PDKKRKYQAH FEVVHYAGVV PYSIVGWLEK
610 620 630 640 650 660
NKDPLNETVV PIFQKSQNRL LATLYENYAG SCSTEPPKSG VKEKRKKAAS FQTVSQLHKE
670 680 690 700 710 720
NLNKLMTNLR ATQPHFVRCI VPNENKTPGV MDSFLVLHQL RCNGVLEGIR ICRQGFPNRL
730 740 750 760 770 780
LYADFRQRYR ILNPSAIPDD TFVDSRKATE KLLGSLDIDH TQYQFGHTKV FFKAGLLGIL
790 800 810 820 830 840
EELRDQRLAK VLTLLQARSR GRLMRLEYQR MLGGRDALFT IQWNIRAFNA VKNWSWMKLF
850 860 870 880 890 900
FKMKPLLRSA QAEEELAALR AELRGLRGAL ATAEAKRQEL EETQVSVTQE KNDLALQLQA
910 920 930 940 950 960
EQDNLADAEE RCHLLIKSKV QLEAKVKELS ERLEDEEEVN ADLAARRRKL EDECTELKKD
970 980 990 1000 1010 1020
IDDLELTLAK AEKEKQATEN KVKNLTEEMA ALDEAVVRLT KEKKALQEAH QQALGDLQAE
1030 1040 1050 1060 1070 1080
EDRVSALAKA KIRLEQQVED LECSLEQEKK LRMDTERAKR KLEGDLKLTQ ETVTDTTQDK
1090 1100 1110 1120 1130 1140
QQLEEKLKKK DSELSQLNLR VEDEQLVGVQ LQKKIKELQA RAEELEEELE AERAARARVE
1150 1160 1170 1180 1190 1200
KQRAEAAREL EELSERLEEA GGASAGQREG CRKREAELGR LRRELEEAVL RHEATVAALR
1210 1220 1230 1240 1250 1260
RKQADSAAEL SEQVDSLQRI RQKLEKEKSE LRMEVDDLGA SVETLARGKA SAEKLCRTYE
1270 1280 1290 1300 1310 1320
DQLSEAKIKV EELQRQLADA STQRGRLQTE NGELGRLLEE KESMISQLSR GKTSAAQSLE
1330 1340 1350 1360 1370 1380
ELRRQLEEES KAKGALAHAV QALRHDCDLL REQHEEESEA QAELQRLLSK ANAEVAQWRS
1390 1400 1410 1420 1430 1440
KYEADAIQRT EELEEAKKKL ALRLQEAEEG VEAANAKCSS LEKAKLRLQT ESEDVTLELE
1450 1460 1470 1480 1490 1500
RATSAAAALD KKQRHLERAL EERRRQEEEM QRELEAAQRE ARGLGTELFR LRHSHEEALE
1510 1520 1530 1540 1550 1560
ALETLKRENK NLQEEISDLT DQVSLSGKSI QELEKAKKAL EGEKSELQAA LEEAEGALEL
1570 1580 1590 1600 1610 1620
EETKTLRIQL ELSQVKAEVD RKLAEKDEEC TNLRRNHQRA VESLQASLDA ETRARNEALR
1630 1640 1650 1660 1670 1680
LKKKMEGDLN DLELQLGHAT RQAMEAQAAT RLLQAQLKEE QAGRDEEQRL AAELREQGQA
1690 1700 1710 1720 1730 1740
LERRAALLAA ELEELRAALE QGERSRRLAE QELLEATERL NLLHSQNTGL LNQKKKLEVD
1750 1760 1770 1780 1790 1800
LAQLSGEVEE AAQERREAEE KAKKAITDAA MMAEELKKEQ DTSAHLERMK KTLEQTVREL
1810 1820 1830 1840 1850 1860
QARLEEAEQA ALRGGKKQVQ KLEAKVRELE AELDAEQKKH AEALKGVRKH ERRVKELVYQ
1870 1880 1890 1900 1910 1920
TEEDRKNLAR MQDLVDKLQS KVKSYKRQFE EAEQQASTNL AKYRKAQHEL DDAEERADMA
1930 1940
ETQANKLRAR SRDALGPKHK E