Q5SX40
Gene name |
Myh1 |
Protein name |
Myosin-1 |
Names |
Myosin heavy chain 1 , Myosin heavy chain 2x , MyHC-2x , Myosin heavy chain, skeletal muscle, adult 1 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:17879 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
80-786 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for Q5SX40
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q5SX40-F1 | Predicted | AlphaFoldDB |
81 variants for Q5SX40
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs3389162521 | 44 | K>E | No | EVA | |
rs3389165392 | 49 | K>* | No | EVA | |
rs3389141910 | 64 | T>I | No | EVA | |
rs3389163780 | 78 | Y>* | No | EVA | |
rs3389166851 | 94 | M>T | No | EVA | |
rs3402451641 | 133 | P>T | No | EVA | |
rs3402344809 | 136 | N>T | No | EVA | |
rs3413126634 | 148 | R>H | No | EVA | |
rs3389179689 | 170 | R>G | No | EVA | |
rs265789682 | 211 | T>P | No | EVA | |
rs3401752751 | 252 | R>G | No | EVA | |
rs3389104969 | 279 | Q>R | No | EVA | |
rs3389166433 | 292 | I>N | No | EVA | |
rs3389130193 | 302 | E>G | No | EVA | |
rs3389166872 | 305 | L>Q | No | EVA | |
rs3389166832 | 375 | Q>L | No | EVA | |
rs3389141936 | 393 | L>R | No | EVA | |
rs232837029 | 404 | Y>* | No | EVA | |
rs3389141966 | 408 | K>N | No | EVA | |
rs3389162494 | 415 | T>I | No | EVA | |
rs3389141962 | 419 | T>I | No | EVA | |
rs3389179673 | 514 | I>V | No | EVA | |
rs3389162483 | 605 | N>D | No | EVA | |
rs3389154765 | 608 | V>M | No | EVA | |
rs3402244176 | 661 | N>S | No | EVA | |
rs3389131217 | 680 | I>L | No | EVA | |
rs3389162446 | 741 | Q>* | No | EVA | |
rs3389163706 | 777 | L>P | No | EVA | |
rs3389166831 | 827 | A>D | No | EVA | |
rs3389131229 | 837 | M>K | No | EVA | |
rs3389141949 | 868 | E>* | No | EVA | |
rs3389176236 | 978 | T>A | No | EVA | |
rs3389179686 | 1001 | K>M | No | EVA | |
rs3389176281 | 1014 | L>M | No | EVA | |
rs3389174912 | 1040 | D>N | No | EVA | |
rs3389169668 | 1040 | D>V | No | EVA | |
rs26892416 | 1076 | V>I | No | EVA | |
rs3389131242 | 1214 | I>F | No | EVA | |
rs3389143142 | 1244 | V>L | No | EVA | |
rs3389143109 | 1257 | R>H | No | EVA | |
rs3402350785 | 1274 | Q>P | No | EVA | |
rs3401988038 | 1275 | R>L | No | EVA | |
rs3402327443 | 1277 | I>F | No | EVA | |
rs3389179702 | 1286 | R>G | No | EVA | |
rs3389131286 | 1321 | E>V | No | EVA | |
rs3389166848 | 1362 | A>G | No | EVA | |
rs3389166805 | 1417 | K>E | No | EVA | |
rs3389169589 | 1426 | Q>H | No | EVA | |
rs217154446 | 1444 | A>S | No | EVA | |
rs3389139069 | 1451 | K>R | No | EVA | |
rs3389178040 | 1461 | A>E | No | EVA | |
rs3389139090 | 1463 | W>R | No | EVA | |
rs3389169671 | 1507 | R>S | No | EVA | |
rs3389143095 | 1510 | K>N | No | EVA | |
rs3412089151 | 1528 | K>T | No | EVA | |
rs3389179721 | 1556 | A>T | No | EVA | |
rs3389174861 | 1565 | I>F | No | EVA | |
rs3389131290 | 1578 | E>D | No | EVA | |
rs3389169614 | 1580 | D>E | No | EVA | |
rs3389174881 | 1615 | R>K | No | EVA | |
rs3389178054 | 1666 | D>V | No | EVA | |
rs3389166858 | 1672 | E>K | No | EVA | |
rs3389154774 | 1686 | N>D | No | EVA | |
rs3389162448 | 1693 | E>D | No | EVA | |
rs3389139022 | 1698 | T>I | No | EVA | |
rs3389162508 | 1703 | E>G | No | EVA | |
rs3389163738 | 1706 | R>M | No | EVA | |
rs3389162460 | 1767 | T>N | No | EVA | |
rs3402352502 | 1774 | E>V | No | EVA | |
rs3401752783 | 1775 | E>V | No | EVA | |
rs3389179719 | 1782 | T>I | No | EVA | |
rs3389154779 | 1784 | A>V | No | EVA | |
rs3389178013 | 1787 | E>Q | No | EVA | |
rs3548746620 | 1793 | L>M | No | EVA | |
rs3389162451 | 1794 | E>* | No | EVA | |
rs3389139016 | 1797 | V>A | No | EVA | |
rs3389131213 | 1803 | R>S | No | EVA | |
rs3389139100 | 1837 | Q>* | No | EVA | |
rs3389170146 | 1895 | Q>H | No | EVA | |
rs3389154731 | 1905 | K>R | No | EVA | |
rs3389165686 | 1940 | S>C | No | EVA |
1 associated diseases with Q5SX40
[MIM: 620430]: Autoimmune disease, multisystem, infantile-onset, 3 (ADMIO3)
An autosomal recessive disorder characterized by autoimmune manifestations apparent in the first months or years of life. Clinical features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations such as fever and hepatomegaly, and autoimmune cytopenias. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by autoimmune manifestations apparent in the first months or years of life. Clinical features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations such as fever and hepatomegaly, and autoimmune cytopenias. . Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q5SX40
7 GO annotations of cellular component
Name | Definition |
---|---|
A band | The dark-staining region of a sarcomere, in which myosin thick filaments are present; the center is traversed by the paler H zone, which in turn contains the M line. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoplasmic ribonucleoprotein granule | A ribonucleoprotein granule located in the cytoplasm. |
intercalated disc | A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
muscle myosin complex | A filament of myosin found in a muscle cell of any type. |
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. |
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. |
1 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. |
46 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
Q9BE40 | MYH1 | Myosin-1 | 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 |
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 |
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 |
P12882 | MYH1 | Myosin-1 | 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 |
Q5SX39 | Myh4 | Myosin-4 | 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 |
MSSDAEMAVF | GEAAPYLRKS | EKERIEAQNK | PFDAKSSVFV | VDAKESFVKA | TVQSREGGKV |
70 | 80 | 90 | 100 | 110 | 120 |
TAKTEGGTTV | TVKDDQVYPM | NPPKYDKIED | MAMMTHLHEP | AVLYNLKERY | AAWMIYTYSG |
130 | 140 | 150 | 160 | 170 | 180 |
LFCVTVNPYK | WLPVYNAEVV | AAYRGKKRQE | APPHIFSISD | NAYQFMLTDR | ENQSILITGE |
190 | 200 | 210 | 220 | 230 | 240 |
SGAGKTVNTK | RVIQYFATIA | VTGEKKKEEA | TSGKMQGTLE | DQIISANPLL | EAFGNAKTVR |
250 | 260 | 270 | 280 | 290 | 300 |
NDNSSRFGKF | IRIHFGTTGK | LASADIETYL | LEKSRVTFQL | KAERSYHIFY | QIMSNKKPDL |
310 | 320 | 330 | 340 | 350 | 360 |
IEMLLITTNP | YDYAFVSQGE | ITVPSIDDQE | ELMATDSAID | ILGFTSDERV | SIYKLTGAVM |
370 | 380 | 390 | 400 | 410 | 420 |
HYGNMKFKQK | QREEQAEPDG | TEVADKAAYL | QNLNSADLLK | ALCYPRVKVG | NEYVTKGQTV |
430 | 440 | 450 | 460 | 470 | 480 |
QQVYNSVGAL | AKAVYEKMFL | WMVTRINQQL | DTKQPRQYFI | GVLDIAGFEI | FDFNSLEQLC |
490 | 500 | 510 | 520 | 530 | 540 |
INFTNEKLQQ | FFNHHMFVLE | QEEYKKEGIE | WEFIDFGMDL | AACIELIEKP | MGIFSILEEE |
550 | 560 | 570 | 580 | 590 | 600 |
CMFPKATDTS | FKNKLYEQHL | GKSNNFQKPK | PAKGKVEAHF | SLVHYAGTVD | YNIAGWLDKN |
610 | 620 | 630 | 640 | 650 | 660 |
KDPLNETVVG | LYQKSSMKTL | AYLFSGAAAA | AEAESGGGGG | KKGAKKKGSS | FQTVSALFRE |
670 | 680 | 690 | 700 | 710 | 720 |
NLNKLMTNLR | STHPHFVRCI | IPNETKTPGA | MEHELVLHQL | RCNGVLEGIR | ICRKGFPSRI |
730 | 740 | 750 | 760 | 770 | 780 |
LYADFKQRYK | VLNASAIPEG | QFIDSKKASE | KLLGSIDIDH | TQYKFGHTKV | FFKAGLLGLL |
790 | 800 | 810 | 820 | 830 | 840 |
EEMRDDKLAQ | LITRTQAMCR | GYLARVEYQK | MVERRESIFC | IQYNVRAFMN | VKHWPWMKLY |
850 | 860 | 870 | 880 | 890 | 900 |
FKIKPLLKSA | ETEKEMANMK | EEFEKAKENL | AKAEAKRKEL | EEKMVALMQE | KNDLQLQVQS |
910 | 920 | 930 | 940 | 950 | 960 |
EADSLADAEE | RCDQLIKTKI | QLEAKIKEVT | ERAEDEEEIN | AELTAKKRKL | EDECSELKKD |
970 | 980 | 990 | 1000 | 1010 | 1020 |
IDDLELTLAK | VEKEKHATEN | KVKNLTEEMA | GLDETIAKLT | KEKKALQEAH | QQTLDDLQAE |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
EDKVNTLTKA | KIKLEQQVDD | LEGSLEQEKK | IRMDLERAKR | KLEGDLKLAQ | ESTMDVENDK |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
QQLDEKLKKK | EFEMSNLQSK | IEDEQALGMQ | LQKKIKELQA | RIEELEEEIE | AERASRAKAE |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
KQRSDLSREL | EEISERLEEA | GGATSAQIEM | NKKREAEFQK | MRRDLEEATL | QHEATAATLR |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
KKHADSVAEL | GEQIDNLQRV | KQKLEKEKSE | MKMEIDDLAS | NMEVISKSKG | NLEKMCRTLE |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
DQVSELKTKE | EEQQRLINEL | TAQRGRLQTE | SGEYSRQLDE | KDSLVSQLSR | GKQAFTQQIE |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
ELKRQLEEEI | KAKSALAHAL | QSSRHDCDLL | REQYEEEQEA | KAELQRAMSK | ANSEVAQWRT |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
KYETDAIQRT | EELEEAKKKL | AQRLQDAEEH | VEAVNAKCAS | LEKTKQRLQN | EVEDLMIDVE |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
RTNAACAALD | KKQRNFDKIL | AEWKQKYEET | HAELEASQKE | SRSLSTELFK | IKNAYEESLD |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
HLETLKRENK | NLQQEISDLT | EQIAEGGKRI | HELEKIKKQI | EQEKSELQAA | LEEAEASLEH |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
EEGKILRIQL | ELNQVKSEID | RKIAEKDEEI | DQLKRNHIRV | VESMQSTLDA | EIRSRNDAIR |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
LKKKMEGDLN | EMEIQLNHSN | RMAAEALRNY | RNTQGILKDT | QLHLDDALRG | QEDLKEQLAM |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
VERRANLLQA | EIEELRATLE | QTERSRKIAE | QELLDASERV | QLLHTQNTSL | INTKKKLETD |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
ISQIQGEMED | IVQEARNAEE | KAKKAITDAA | MMAEELKKEQ | DTSAHLERMK | KNLEQTVKDL |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
QHRLDEAEQL | ALKGGKKQIQ | KLEARVRELE | GEVENEQKRN | VEAIKGLRKH | ERRVKELTYQ |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
TEEDRKNVLR | LQDLVDKLQS | KVKAYKRQAE | EAEEQSNVNL | AKFRKIQHEL | EEAEERADIA |
1930 | 1940 | ||||
ESQVNKLRVK | SREVHTKIIS | EE |