HUMAN:MYH7

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	MYH7 (synonyms: MYHCB)
Protein Name(s)	Myosin-7 Myosin heavy chain 7 Myosin heavy chain slow isoform MyHC-slow Myosin heavy chain, cardiac muscle beta isoform MyHC-beta
External Links
UniProt	P12883
EMBL	M57965 M58018 X52889 AJ238393 EU747717 EF179180 CH471078 BC112171 BC112173 M25135 M25133 M25134 M27636 X04627 X04628 X04629 X04630 X04631 X04632 X04633 X51591 X03741 X06976 M17712 M21665 X05631
CCDS	CCDS9601.1
PIR	A37102
RefSeq	NP_000248.2
UniGene	Hs.719946
PDB	1IK2 2FXM 2FXO 3DTP 4DB1 4P7H
PDBsum	1IK2 2FXM 2FXO 3DTP 4DB1 4P7H
ProteinModelPortal	P12883
SMR	P12883
BioGrid	110710
IntAct	P12883
MINT	MINT-1512407
PhosphoSite	P12883
DMDM	83304912
UCD-2DPAGE	P12883 Q92679
MaxQB	P12883
PaxDb	P12883
PRIDE	P12883
Ensembl	ENST00000355349
GeneID	4625
KEGG	hsa:4625
UCSC	uc001wjx.3
CTD	4625
GeneCards	GC14M023881
GeneReviews	MYH7
H-InvDB	HIX0172409
HGNC	HGNC:7577
HPA	CAB015384 HPA001239 HPA001349
MIM	160500 160760 181430 192600 608358 613426
neXtProt	NX_P12883
Orphanet	324604 1880 154 155 53698 59135 54260
PharmGKB	PA31374
eggNOG	COG5022
GeneTree	ENSGT00760000118919
HOVERGEN	HBG004704
InParanoid	P12883
KO	K17751
OMA	NEHRTKS
OrthoDB	EOG7RBZ7G
PhylomeDB	P12883
TreeFam	TF314375
Reactome	REACT_147867
ChiTaRS	MYH7
EvolutionaryTrace	P12883
GeneWiki	MYH7
GenomeRNAi	4625
NextBio	17802
PRO	PR:P12883
Proteomes	UP000005640
Bgee	P12883
ExpressionAtlas	P12883
Genevestigator	P12883
GO	GO:0005737 GO:0005925 GO:0005859 GO:0016459 GO:0032982 GO:0005634 GO:0030017 GO:0001725 GO:0030018 GO:0030898 GO:0005524 GO:0016887 GO:0000146 GO:0007512 GO:0006200 GO:0006936 GO:0030049 GO:0002027 GO:0002026 GO:0006941 GO:0055010
Gene3D	4.10.270.10
InterPro	IPR000048 IPR027401 IPR001609 IPR004009 IPR002928 IPR027417
Pfam	PF00063 PF02736 PF01576
PRINTS	PR00193
SMART	SM00015 SM00242
SUPFAM	SSF52540
PROSITE	PS50096 PS51456

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0003009	skeletal muscle contraction	PMID:28344082^[1]	ECO:0000315			P		Effects RNA splicing in myoblast formation, causes dysfunction in muscle contraction. More commonly associated with Duchenne Muscular Dystrophy.	complete CACAO 12762
part_of	GO:0030017	sarcomere	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P02564	C		Seeded From UniProt	complete
part_of	GO:0030016	myofibril	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P02564	C		Seeded From UniProt	complete
involved_in	GO:0031449	regulation of slow-twitch skeletal muscle fiber contraction	PMID:7883988^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(UBERON:0001389)	Seeded From UniProt	complete
involved_in	GO:0014728	regulation of the force of skeletal muscle contraction	PMID:7883988^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(UBERON:0001389)	Seeded From UniProt	complete
involved_in	GO:0003009	skeletal muscle contraction	PMID:7883988^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(UBERON:0001389)	Seeded From UniProt	complete
involved_in	GO:0060048	cardiac muscle contraction	PMID:7883988^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0055010	ventricular cardiac muscle tissue morphogenesis	PMID:16754800^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0032982	myosin filament	PMID:19336582^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006941	striated muscle contraction	PMID:15621050^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046034	ATP metabolic process	PMID:15621050^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0002026	regulation of the force of heart contraction	PMID:15621050^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0000146	microfilament motor activity	PMID:15621050^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0055010	ventricular cardiac muscle tissue morphogenesis	PMID:15856146^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0030898	actin-dependent ATPase activity	PMID:16088376^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0030049	muscle filament sliding	PMID:8514894^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0030049	muscle filament sliding	PMID:16088376^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0016887	ATPase activity	PMID:15621050^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0007512	adult heart development	PMID:15856146^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006936	muscle contraction	PMID:15621050^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:15621050^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0000146	microfilament motor activity	PMID:3021460^[9]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91Z83 ensembl:ENSMUSP00000126840	C		Seeded From UniProt	complete
part_of	GO:0030016	myofibril	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91Z83 ensembl:ENSMUSP00000126840	C		Seeded From UniProt	complete
part_of	GO:0016459	myosin complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91Z83 ensembl:ENSMUSP00000126840	C		Seeded From UniProt	complete
involved_in	GO:0014898	cardiac muscle hypertrophy in response to stress	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91Z83 ensembl:ENSMUSP00000126840	P		Seeded From UniProt	complete
involved_in	GO:0014883	transition between fast and slow fiber	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91Z83 ensembl:ENSMUSP00000126840	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91Z83 ensembl:ENSMUSP00000126840	C		Seeded From UniProt	complete
part_of	GO:0001725	stress fiber	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91Z83 ensembl:ENSMUSP00000126840	C		Seeded From UniProt	complete
enables	GO:0003774	motor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001609 InterPro:IPR002928 InterPro:IPR004009 InterPro:IPR008989	F		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001609 InterPro:IPR004009 InterPro:IPR008989	F		Seeded From UniProt	complete
part_of	GO:0016459	myosin complex	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001609 InterPro:IPR002928 InterPro:IPR004009	C		Seeded From UniProt	complete
enables	GO:0051015	actin filament binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR008989	F		Seeded From UniProt	complete
part_of	GO:0005859	muscle myosin complex	PMID:2249844^[10] PMID:3021460^[9]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030017	sarcomere	PMID:16754800^[3]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016459	myosin complex	PMID:12933792^[11]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006936	muscle contraction	PMID:15856146^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F		Seeded From UniProt	complete
enables	GO:0003779	actin binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0009	F		Seeded From UniProt	complete
enables	GO:0005516	calmodulin binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0112	F		Seeded From UniProt	complete
part_of	GO:0032982	myosin filament	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0787	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F		Seeded From UniProt	complete
part_of	GO:0016459	myosin complex	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0518	C		Seeded From UniProt	complete
part_of	GO:0030016	myofibril	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0312	C		Seeded From UniProt	complete
part_of	GO:0030017	sarcomere	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0313	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Legnini, I et al. (2017) Circ-ZNF609 Is a Circular RNA that Can Be Translated and Functions in Myogenesis. Mol. Cell 66 22-37.e9 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 Lankford, EB et al. (1995) Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J. Clin. Invest. 95 1409-14 PubMed GONUTS page
↑ ^3.0 ^3.1 Morita, H et al. (2006) Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 113 2697-705 PubMed GONUTS page
↑ Armel, TZ & Leinwand, LA (2009) Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. Proc. Natl. Acad. Sci. U.S.A. 106 6291-6 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 Narolska, NA et al. (2005) Myocardial contraction is 5-fold more economical in ventricular than in atrial human tissue. Cardiovasc. Res. 65 221-9 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 Perrot, A et al. (2005) Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J. Mol. Med. 83 468-77 PubMed GONUTS page
↑ ^7.0 ^7.1 Narolska, NA et al. (2005) Myosin heavy chain composition and the economy of contraction in healthy and diseased human myocardium. J. Muscle Res. Cell. Motil. 26 39-48 PubMed GONUTS page
↑ Cuda, G et al. (1993) Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J. Clin. Invest. 91 2861-5 PubMed GONUTS page
↑ ^9.0 ^9.1 Lichter, P et al. (1986) Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle. Eur. J. Biochem. 160 419-26 PubMed GONUTS page
↑ Jaenicke, T et al. (1990) The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics 8 194-206 PubMed GONUTS page
↑ Gupta, M et al. (2003) Single-stranded DNA-binding proteins PURalpha and PURbeta bind to a purine-rich negative regulatory element of the alpha-myosin heavy chain gene and control transcriptional and translational regulation of the gene expression. Implications in the repression of alpha-myosin heavy chain during heart failure. J. Biol. Chem. 278 44935-48 PubMed GONUTS page

[PMID:28344082-1] Legnini, I et al. (2017) Circ-ZNF609 Is a Circular RNA that Can Be Translated and Functions in Myogenesis. Mol. Cell 66 22-37.e9 PubMed GONUTS page

[PMID:7883988-2] 2.0 ^2.1 ^2.2 ^2.3 Lankford, EB et al. (1995) Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J. Clin. Invest. 95 1409-14 PubMed GONUTS page

[PMID:16754800-3] 3.0 ^3.1 Morita, H et al. (2006) Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 113 2697-705 PubMed GONUTS page

[PMID:19336582-4] Armel, TZ & Leinwand, LA (2009) Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. Proc. Natl. Acad. Sci. U.S.A. 106 6291-6 PubMed GONUTS page

[PMID:15621050-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 Narolska, NA et al. (2005) Myocardial contraction is 5-fold more economical in ventricular than in atrial human tissue. Cardiovasc. Res. 65 221-9 PubMed GONUTS page

[PMID:15856146-6] 6.0 ^6.1 ^6.2 Perrot, A et al. (2005) Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J. Mol. Med. 83 468-77 PubMed GONUTS page

[PMID:16088376-7] 7.0 ^7.1 Narolska, NA et al. (2005) Myosin heavy chain composition and the economy of contraction in healthy and diseased human myocardium. J. Muscle Res. Cell. Motil. 26 39-48 PubMed GONUTS page

[PMID:8514894-8] Cuda, G et al. (1993) Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J. Clin. Invest. 91 2861-5 PubMed GONUTS page

[PMID:3021460-9] 9.0 ^9.1 Lichter, P et al. (1986) Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle. Eur. J. Biochem. 160 419-26 PubMed GONUTS page

[PMID:2249844-10] Jaenicke, T et al. (1990) The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics 8 194-206 PubMed GONUTS page

[PMID:12933792-11] Gupta, M et al. (2003) Single-stranded DNA-binding proteins PURalpha and PURbeta bind to a purine-rich negative regulatory element of the alpha-myosin heavy chain gene and control transcriptional and translational regulation of the gene expression. Implications in the repression of alpha-myosin heavy chain during heart failure. J. Biol. Chem. 278 44935-48 PubMed GONUTS page

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HUMAN:MYH7

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References

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