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P12883

- MYH7_HUMAN

UniProt

P12883 - MYH7_HUMAN

Protein

Myosin-7

Gene

MYH7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 179 (01 Oct 2014)
      Sequence version 5 (06 Dec 2005)
      Previous versions | rss
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    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
    5. protein binding Source: BHF-UCL

    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

    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

    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.
    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

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi160500. phenotype.
    181430. phenotype.
    192600. phenotype.
    608358. phenotype.
    613426. phenotype.
    Orphaneti324604. Classic multiminicore myopathy.
    1880. Ebstein malformation.
    154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    53698. Hyaline