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P12883

- MYH7_HUMAN

UniProt

P12883 - MYH7_HUMAN

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Protein

Myosin-7

Gene

MYH7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Muscle contraction.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi178 – 1858ATP

GO - Molecular functioni

  1. actin-dependent ATPase activity Source: HGNC
  2. ATPase activity Source: HGNC
  3. ATP binding Source: UniProtKB-KW
  4. microfilament motor activity Source: UniProtKB

GO - Biological processi

  1. adult heart development Source: HGNC
  2. ATP catabolic process Source: BHF-UCL
  3. muscle contraction Source: HGNC
  4. muscle filament sliding Source: HGNC
  5. regulation of heart rate Source: HGNC
  6. regulation of the force of heart contraction Source: BHF-UCL
  7. striated muscle contraction Source: BHF-UCL
  8. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Muscle protein, Myosin

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_147867. Translocation of GLUT4 to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-7
Alternative name(s):
Myosin heavy chain 7
Myosin heavy chain slow isoform
Short name:
MyHC-slow
Myosin heavy chain, cardiac muscle beta isoform
Short name:
MyHC-beta
Gene namesi
Name:MYH7
Synonyms:MYHCB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:7577. MYH7.

Subcellular locationi

Cytoplasmmyofibril
Note: Thick filaments of the myofibrils.

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. focal adhesion Source: HPA
  3. muscle myosin complex Source: UniProtKB
  4. myosin complex Source: HGNC
  5. myosin filament Source: BHF-UCL
  6. nucleus Source: HPA
  7. sarcomere Source: BHF-UCL
  8. stress fiber Source: Ensembl
  9. Z disc Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Thick filament

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.52 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261A → V in CMH1. 1 Publication
Corresponds to variant rs186964570 [ dbSNP | Ensembl ].
VAR_004566
Natural varianti39 – 391V → M in CMH1. 1 Publication
VAR_019845
Natural varianti59 – 591V → I in CMH1.
VAR_004567
Natural varianti115 – 1151Y → H in CMH1. 1 Publication
VAR_042762
Natural varianti124 – 1241T → I in CMH1. 1 Publication
VAR_020797
Natural varianti143 – 1431R → G in CMH1. 1 Publication
VAR_042763
Natural varianti143 – 1431R → Q in CMH1. 2 Publications
VAR_004568
Natural varianti143 – 1431R → W in CMH1. 1 Publication
VAR_029431
Natural varianti146 – 1461K → N in CMH1. 2 Publications
VAR_042764
Natural varianti148 – 1481S → I in CMH1. 1 Publication
VAR_042765
Natural varianti162 – 1621Y → C in CMH1. 1 Publication
VAR_020798
Natural varianti186 – 1861V → L in CMH1. 1 Publication
VAR_042766
Natural varianti187 – 1871N → K in CMH1. 1 Publication
VAR_020799
Natural varianti188 – 1881T → N in CMH1. 1 Publication
VAR_019846
Natural varianti190 – 1901R → T in CMH1. 2 Publications
VAR_020800
Natural varianti196 – 1961A → T in CMH1. 1 Publication
VAR_042767
Natural varianti204 – 2041R → H in CMH1. 1 Publication
VAR_019847
Natural varianti207 – 2071K → Q in CMH1. 1 Publication
VAR_042769
Natural varianti211 – 2111P → L in CMH1. 3 Publications
VAR_042770
Natural varianti222 – 2221Q → K in CMH1. 1 Publication
VAR_020801
Natural varianti227 – 2271L → V in CMH1. 1 Publication
VAR_042771
Natural varianti232 – 2321N → S in CMH1. 1 Publication
VAR_019848
Natural varianti244 – 2441F → L in CMH1. 1 Publication
VAR_020802
Natural varianti249 – 2491R → Q in CMH1. 6 Publications
Corresponds to variant rs3218713 [ dbSNP | Ensembl ].
VAR_004569
Natural varianti256 – 2561G → E in CMH1. 1 Publication
VAR_004570
Natural varianti263 – 2631I → M in CMH1. 1 Publication
VAR_042772
Natural varianti263 – 2631I → T in CMH1. 2 Publications
VAR_004571
Natural varianti312 – 3121F → C in CMH1. 1 Publication
VAR_042773
Natural varianti320 – 3201V → M in CMH1. 1 Publication
VAR_020803
Natural varianti328 – 3281E → G in CMH1. 1 Publication
VAR_042774
Natural varianti349 – 3491M → T in CMH1. 3 Publications
VAR_004572
Natural varianti351 – 3511K → E in CMH1. 2 Publications
VAR_042775
Natural varianti355 – 3551A → T in CMH1. 1 Publication
VAR_019849
Natural varianti383 – 3831K → N in CMH1. 1 Publication
VAR_042776
Natural varianti385 – 3851A → V in CMH1. 1 Publication
VAR_042777
Natural varianti390 – 3901L → V in CMH1. 2 Publications
VAR_020804
Natural varianti403 – 4031R → L in CMH1. 2 Publications
VAR_004573
Natural varianti403 – 4031R → Q in CMH1. 11 Publications
VAR_004574
Natural varianti403 – 4031R → W in CMH1. 7 Publications
Corresponds to variant rs3218714 [ dbSNP | Ensembl ].
VAR_004575
Natural varianti404 – 4041V → L in CMH1. 1 Publication
VAR_042778
Natural varianti404 – 4041V → M in CMH1. 1 Publication
VAR_042779
Natural varianti406 – 4061V → M in CMH1. 1 Publication
VAR_020805
Natural varianti407 – 4071G → V in CMH1. 1 Publication
VAR_042780
Natural varianti411 – 4111V → I in CMH1. 3 Publications
VAR_029432
Natural varianti425 – 4251G → R in CMH1. 1 Publication
VAR_042782
Natural varianti428 – 4281A → V in CMH1. 2 Publications
VAR_019850
Natural varianti430 – 4301A → E in CMH1. 1 Publication
VAR_029433
Natural varianti435 – 4351M → T in CMH1. 1 Publication
VAR_042783
Natural varianti440 – 4401V → M in CMH1. 1 Publication
VAR_042784
Natural varianti443 – 4431I → T in CMH1. 1 Publication
VAR_019851
Natural varianti450 – 4501K → E in CMH1. 1 Publication
VAR_042786
Natural varianti450 – 4501K → T in CMH1. 1 Publication
VAR_042787
Natural varianti453 – 4531R → C in CMH1. 10 Publications
VAR_004576
Natural varianti453 – 4531R → H in CMH1. 1 Publication
VAR_042788
Natural varianti479 – 4791N → S in CMH1. 2 Publications
VAR_019852
Natural varianti483 – 4831E → K in CMH1. 1 Publication
VAR_019853
Natural varianti499 – 4991E → K in CMH1. 1 Publication
Corresponds to variant rs3218715 [ dbSNP | Ensembl ].
VAR_020806
Natural varianti500 – 5001E → A in CMH1. 1 Publication
VAR_042789
Natural varianti501 – 5011Y → C in CMH1. 1 Publication
VAR_042790
Natural varianti511 – 5111I → F in CMH1. 1 Publication
VAR_042791
Natural varianti511 – 5111I → T in CMH1. 1 Publication
VAR_042792
Natural varianti513 – 5131F → C in CMH1. 1 Publication
VAR_004577
Natural varianti515 – 5151M → R in CMH1. 1 Publication
VAR_042793
Natural varianti515 – 5151M → V in CMH1; infrequent. 1 Publication
VAR_039562
Natural varianti517 – 5171L → M in CMH1. 1 Publication
VAR_029435
Natural varianti571 – 5711G → R in CMH1. 1 Publication
VAR_042795
Natural varianti576 – 5761H → R in CMH1. 1 Publication
VAR_042796
Natural varianti584 – 5841G → R in CMH1. 1 Publication
VAR_004578
Natural varianti584 – 5841G → S in CMH1. 1 Publication
VAR_029436
Natural varianti587 – 5871D → V in CMH1.
VAR_004579
Natural varianti595 – 5951Q → R in CMH1. 1 Publication
VAR_020807
Natural varianti601 – 6011L → V in CMH1. 1 Publication
VAR_020808
Natural varianti602 – 6021N → S in CMH1.
VAR_004580
Natural varianti606 – 6061V → M in CMH1; in cis with V-728 gives a more severe phenotype. 9 Publications
VAR_004581
Natural varianti615 – 6151K → N in CMH1. 1 Publication
VAR_004582
Natural varianti615 – 6151K → Q in CMH1. 1 Publication
VAR_042797
Natural varianti659 – 6591M → I in CMH1. 1 Publication
VAR_019854
Natural varianti663 – 6631R → C in CMH1. 3 Publications
VAR_042798
Natural varianti663 – 6631R → H in CMH1. 9 Publications
VAR_019855
Natural varianti663 – 6631R → S in CMH1. 1 Publication
VAR_019856
Natural varianti671 – 6711R → C in CMH1. 2 Publications
VAR_019857
Natural varianti694 – 6941R → C in CMH1. 3 Publications
VAR_020809
Natural varianti694 – 6941R → H in CMH1. 1 Publication
VAR_029437
Natural varianti696 – 6961N → S in CMH1. 1 Publication
VAR_020810
Natural varianti698 – 6981V → A in CMH1. 1 Publication
VAR_042799
Natural varianti712 – 7121R → L in CMH1. 1 Publication
VAR_020811
Natural varianti716 – 7161G → R in CMH1. 4 Publications
VAR_004583
Natural varianti719 – 7191R → Q in CMH1. 8 Publications
VAR_017749
Natural varianti719 – 7191R → W in CMH1. 10 Publications
VAR_004584
Natural varianti723 – 7231R → C in CMH1. 3 Publications
VAR_004585
Natural varianti723 – 7231R → G in CMH1; malignant phenotype. 1 Publication
VAR_020812
Natural varianti728 – 7281A → V in CMH1; in cis with M-606 gives a more severe phenotype. 1 Publication
VAR_017750
Natural varianti731 – 7311P → L in CMH1.
VAR_004586
Natural varianti733 – 7331G → E in CMH1. 1 Publication
VAR_019858
Natural varianti734 – 7341Q → E in CMH1. 1 Publication
VAR_029438
Natural varianti734 – 7341Q → P in CMH1. 1 Publication
VAR_042800
Natural varianti736 – 7361I → M in CMH1.
VAR_004587
Natural varianti736 – 7361I → T in CMH1. 4 Publications
VAR_029439
Natural varianti741 – 7411G → R in CMH1. 4 Publications
VAR_004588
Natural varianti741 – 7411G → W in CMH1. 1 Publication
VAR_004589
Natural varianti742 – 7421A → E in CMH1. 1 Publication
VAR_042801
Natural varianti743 – 7431E → D in CMH1. 1 Publication
VAR_014199
Natural varianti763 – 7631V → G in CMH1. 1 Publication
VAR_042802
Natural varianti763 – 7631V → M in CMH1. 1 Publication
VAR_045926
Natural varianti768 – 7681G → R in CMH1. 2 Publications
VAR_019859
Natural varianti774 – 7741E → V in CMH1. 1 Publication
VAR_042803
Natural varianti778 – 7781D → E in CMH1. 2 Publications
VAR_019860
Natural varianti778 – 7781D → G in CMH1. 1 Publication
VAR_004590
Natural varianti778 – 7781D → V in CMH1. 1 Publication
VAR_042804
Natural varianti782 – 7821S → N in CMH1. 3 Publications
VAR_020813
Natural varianti787 – 7871R → C in CMH1. 1 Publication
VAR_045927
Natural varianti787 – 7871R → H in CMH1. 2 Publications
VAR_019861
Natural varianti796 – 7961L → F in CMH1. 1 Publication
VAR_029440
Natural varianti797 – 7971A → T in CMH1. 3 Publications
Corresponds to variant rs3218716 [ dbSNP | Ensembl ].
VAR_004591
Natural varianti822 – 8221M → L in CMH1. 1 Publication
VAR_042805
Natural varianti822 – 8221M → T in CMH1. 1 Publication
VAR_042806
Natural varianti823 – 8231G → E in CMH1. 1 Publication
VAR_042807
Natural varianti824 – 8241V → I in CMH1. 1 Publication
VAR_029441
Natural varianti846 – 8461E → Q in CMH1. 1 Publication
VAR_020814
Natural varianti847 – 8471Missing in CMH1. 1 Publication
VAR_042808
Natural varianti852 – 8521M → T in CMH1. 1 Publication
VAR_019862
Natural varianti858 – 8581R → C in CMH1; infrequent. 2 Publications
VAR_039563
Natural varianti858 – 8581R → H in CMH1. 1 Publication
Corresponds to variant rs2856897 [ dbSNP | Ensembl ].
VAR_042809
Natural varianti869 – 8691R → C in CMH1. 1 Publication
VAR_020815
Natural varianti869 – 8691R → G in CMH1. 1 Publication
VAR_019863
Natural varianti869 – 8691R → H in CMH1. 1 Publication
Corresponds to variant rs202141173 [ dbSNP | Ensembl ].
VAR_042810
Natural varianti870 – 8701R → C in CMH1. 2 Publications
Corresponds to variant rs36211715 [ dbSNP | Ensembl ].
VAR_020816
Natural varianti870 – 8701R → H in CMH1. 3 Publications
Corresponds to variant rs36211715 [ dbSNP | Ensembl ].
VAR_004592
Natural varianti877 – 8771M → K in CMH1. 1 Publication
VAR_020817
Natural varianti882 – 8821Q → E in CMH1. 1 Publication
VAR_042811
Natural varianti883 – 8831Missing in CMH1. 1 Publication
VAR_019864
Natural varianti894 – 8941E → G in CMH1. 2 Publications
VAR_042812
Natural varianti901 – 9011A → G in CMH1. 1 Publication
VAR_042813
Natural varianti905 – 9051C → F in CMH1. 1 Publication
VAR_029442
Natural varianti906 – 9061D → G in CMH1. 1 Publication
VAR_042814
Natural varianti908 – 9081L → V in CMH1. 7 Publications
VAR_004593
Natural varianti921 – 9211E → K in CMH1. 1 Publication
VAR_042815
Natural varianti924 – 9241E → K in CMH1. 4 Publications
VAR_004594
Natural varianti924 – 9241E → Q in CMH1. 1 Publication
VAR_029443
Natural varianti927 – 9271E → K in CMH1. 1 Publication
VAR_042816
Natural varianti927 – 9271Missing in CMH1. 1 Publication
VAR_020818
Natural varianti928 – 9281D → N in CMH1. 2 Publications
VAR_029444
Natural varianti930 – 9301E → K in CMH1. 2 Publications
VAR_004595
Natural varianti930 – 9301Missing in CMH1. 2 Publications
VAR_004596
Natural varianti931 – 9311E → K in CMH1. 1 Publication
VAR_042817
Natural varianti935 – 9351E → K in CMH1.
VAR_004597
Natural varianti949 – 9491E → K in CMH1.
VAR_004598
Natural varianti953 – 9531D → H in CMH1. 1 Publication
VAR_042818
Natural varianti1057 – 10571G → D in CMH1. 1 Publication
VAR_042820
Natural varianti1057 – 10571G → S in CMH1. 1 Publication
VAR_042821
Natural varianti1135 – 11351L → R in CMH1. 1 Publication
VAR_019865
Natural varianti1218 – 12181E → Q in CMH1. 1 Publication
VAR_019866
Natural varianti1327 – 13271N → K in CMH1. 1 Publication
VAR_042823
Natural varianti1356 – 13561E → K in CMH1. 2 Publications
VAR_042824
Natural varianti1377 – 13771T → M in CMH1. 2 Publications
VAR_019867
Natural varianti1379 – 13791A → T in CMH1. 2 Publications
VAR_019868
Natural varianti1382 – 13821R → W in CMH1. 1 Publication
VAR_019869
Natural varianti1414 – 14141L → M in CMH1. 1 Publication
VAR_045928
Natural varianti1420 – 14201R → W in CMH1. 1 Publication
VAR_042825
Natural varianti1454 – 14541A → T in CMH1. 1 Publication
VAR_042827
Natural varianti1459 – 14591K → N in CMH1. 1 Publication
VAR_042828
Natural varianti1513 – 15131T → S in CMH1. 1 Publication
VAR_042830
Natural varianti1555 – 15551E → K in CMH1. 1 Publication
VAR_020820
Natural varianti1712 – 17121R → W in CMH1. 1 Publication
VAR_042834
Natural varianti1753 – 17531E → K in CMH1. 1 Publication
VAR_042836
Natural varianti1768 – 17681E → K in CMH1. 1 Publication
VAR_042837
Natural varianti1776 – 17761S → G in CMH1. 1 Publication
VAR_020821
Natural varianti1777 – 17771A → T in CMH1. 1 Publication
VAR_019871
Natural varianti1854 – 18541T → M in CMH1. 1 Publication
VAR_042838
Natural varianti1883 – 18831E → K in CMH1. 1 Publication
VAR_042839
Natural varianti1929 – 19291T → M in CMH1. 1 Publication
VAR_042842
Myopathy, myosin storage (MYOMS) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1845 – 18451R → W in MYOMS and SPMM. 2 Publications
Corresponds to variant rs28933098 [ dbSNP | Ensembl ].
VAR_017754
Natural varianti1901 – 19011H → L in MYOMS. 1 Publication
VAR_042840
Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1845 – 18451R → W in MYOMS and SPMM. 2 Publications
Corresponds to variant rs28933098 [ dbSNP | Ensembl ].
VAR_017754
Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti201 – 2011I → T in CMD1S. 1 Publication
VAR_042768
Natural varianti223 – 2231A → T in CMD1S. 1 Publication
VAR_017746
Natural varianti412 – 4121T → N in CMD1S. 1 Publication
VAR_042781
Natural varianti532 – 5321S → P in CMD1S. 1 Publication
VAR_017747
Natural varianti550 – 5501A → V in CMD1S. 1 Publication
VAR_042794
Natural varianti642 – 6421S → L in CMD1S. 1 Publication
VAR_017748
Natural varianti764 – 7641F → L in CMD1S. 1 Publication
VAR_017751
Natural varianti1019 – 10191T → N in CMD1S. 1 Publication
VAR_042819
Natural varianti1044 – 10441V → A in CMD1S. 1 Publication
VAR_067260
Natural varianti1101 – 11044Missing in CMD1S. 1 Publication
VAR_067261
Natural varianti1193 – 11931R → S in CMD1S. 1 Publication
VAR_042822
Natural varianti1263 – 12631A → E in CMD1S. 1 Publication
VAR_067262
Natural varianti1297 – 12971L → V in CMD1S. 1 Publication
VAR_067263
Natural varianti1426 – 14261E → K in CMD1S. 1 Publication
VAR_042826
Natural varianti1634 – 16341R → C in CMD1S. 1 Publication
VAR_042833
Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti441 – 4411T → M in MPD1. 1 Publication
VAR_042785
Natural varianti1500 – 15001R → P in MPD1. 1 Publication
VAR_022369
Natural varianti1617 – 16171Missing in MPD1. 1 Publication
VAR_042832
Natural varianti1663 – 16631A → P in MPD1. 1 Publication
VAR_022370
Natural varianti1706 – 17061L → P in MPD1. 1 Publication
VAR_022371
Natural varianti1729 – 17291Missing in MPD1. 1 Publication
VAR_042835