MYH1 (myosin heavy chain 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4619
• Gene name: Myosin heavy chain 1
• Gene symbol: MYH1
• Synonyms (NCBI Gene): HEL71, MYHSA1, MYHa, MyHC-2X/D, MyHC-2x
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin hea

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006907	hsa-miR-23a-3p	Luciferase reporter assay, qRT-PCR, Western blot	22771720

Gene ontology (GO) Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 39482536
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005859	Component	Muscle myosin complex	IDA	18310078
GO:0005859	Component	Muscle myosin complex	IEA
GO:0006936	Process	Muscle contraction	IBA
GO:0006936	Process	Muscle contraction	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	39482536
GO:0014704	Component	Intercalated disc	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0016460	Component	Myosin II complex	IEA
GO:0030016	Component	Myofibril	IEA
GO:0031672	Component	A band	IEA
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	15121898
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0099512	Component	Supramolecular fiber	IEA

Other IDs

• MIM: 160730
• HGNC: 7567
• e!Ensembl: ENSG00000109061

Protein

• UniProt ID: P12882
• Protein name: Myosin-1 (Myosin heavy chain 1) (Myosin heavy chain 2x) (MyHC-2x) (Myosin heavy chain IIx/d) (MyHC-IIx/d) (Myosin heavy chain, skeletal muscle, adult 1)
• Protein function: Required for normal hearing. It plays a role in cochlear amplification of auditory stimuli, likely through the positive regulation of prestin (SLC26A5) activity and outer hair cell (OHC) electromotility.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00063	Myosin_head	88 → 770	Myosin head (motor domain)	Domain
  PF01576	Myosin_tail_1	847 → 1928	Myosin tail	Coiled-coil
  PF02736	Myosin_N	35 → 74	Myosin N-terminal SH3-like domain	Domain

• Sequence:

  MSSDSEMAIFGEAAPFLRKSERERIEAQNKPFDAKTSVFVVDPKESFVKATVQSREGGKV
  TAKTEAGATVTVKDDQVFPMNPPKYDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSG
  LFCVTVNPYKWLPVYNAEVVTAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGE
  SGAGKTVNTKRVIQYFATIAVTGEKKKEEVTSGKMQGTLEDQIISANPLLEAFGNAKTVR
  NDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQIMSNKKPDL
  IEMLLITTNPYDYAFVSQGEITVPSIDDQEELMATDSAIEILGFTSDERVSIYKLTGAVM
  HYGNMKFKQKQREEQAEPDGTEVADKAAYLQNLNSADLLKALCYPRVKVGNEYVTKGQTV
  QQVYNAVGALAKAVYDKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLC
  INFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEE
  CMFPKATDTSFKNKLYEQHLGKSNNFQKPKPAKGKPEAHFSLIHYAGTVDYNIAGWLDKN
  KDPLNETVVGLYQKSAMKTLALLFVGATGAEAEAGGGKKGGKKKGSSFQTVSALFRENLN
  KLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYA
  DFKQRYKVLNASAIPEGQFIDSKKASEKLLGSIDIDHTQYKFGHTKVFFKAGLLGLLEEM
  RDEKLAQLITRTQAMCRGFLARVEYQKMVERRESIFCIQYNVRAFMNVKHWPWMKLYFKI
  KPLLKSAETEKEMANMKEEFEKTKEELAKTEAKRKELEEKMVTLMQEKNDLQLQVQAEAD
  SLADAEERCDQLIKTKIQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDD
  LELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEEDK
  VNTLTKAKIKLEQQVDDLEGSLEQEKKIRMDLERAKRKLEGDLKLAQESTMDIENDKQQL
  DEKLKKKEFEMSGLQSKIEDEQALGMQLQKKIKELQARIEELEEEIEAERASRAKAEKQR
  SDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRKKH
  ADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNMETVSKAKGNLEKMCRALEDQL
  SEIKTKEEEQQRLINDLTAQRARLQTESGEYSRQLDEKDTLVSQLSRGKQAFTQQIEELK
  RQLEEEIKAKSALAHALQSSRHDCDLLREQYEEEQEAKAELQRAMSKANSEVAQWRTKYE
  TDAIQRTEELEEAKKKLAQRLQDAEEHVEAVNAKCASLEKTKQRLQNEVEDLMIDVERTN
  AACAALDKKQRNFDKILAEWKQKCEETHAELEASQKESRSLSTELFKIKNAYEESLDQLE
  TLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKSELQAALEEAEASLEHEEG
  KILRIQLELNQVKSEVDRKIAEKDEEIDQMKRNHIRIVESMQSTLDAEIRSRNDAIRLKK
  KMEGDLNEMEIQLNHANRMAAEALRNYRNTQAILKDTQLHLDDALRSQEDLKEQLAMVER
  RANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDISQ
  IQGEMEDIIQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHR
  LDEAEQLALKGGKKQIQKLEARVRELEGEVESEQKRNVEAVKGLRKHERKVKELTYQTEE
  DRKNILRLQDLVDKLQAKVKSYKRQAEEAEEQSNVNLSKFRRIQHELEEAEERADIAESQ
  VNKLRVKSREVHTKIISEE

• Sequence length: 1939

Pathways

KEGG Pathway

Motor proteins

Cytoskeleton in muscle cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYH1-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (15)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29510741		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18796164	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	21882064	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28074849	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	26092123		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	26092123		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32241263	Associate	★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	17323113		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	23561550	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	29510741		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30111857	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37340028, 37679666	Associate	★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	BEFREE	17323113		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	31705962		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MYH15 2 shared pathwaysMotor proteins, Cytoskeleton in muscle cells Related via 2 shared pathways including Motor proteins, Cytoskeleton in muscle cells. MYH4 2 shared pathwaysMotor proteins, Cytoskeleton in muscle cells Related via 2 shared pathways including Motor proteins, Cytoskeleton in muscle cells. MYH7B 2 shared pathwaysMotor proteins, Cytoskeleton in muscle cells Related via 2 shared pathways including Motor proteins, Cytoskeleton in muscle cells. MYH13 2 shared pathwaysMotor proteins, Cytoskeleton in muscle cells Related via 2 shared pathways including Motor proteins, Cytoskeleton in muscle cells. MYH3 2 shared pathwaysMotor proteins, Cytoskeleton in muscle cells Related via 2 shared pathways including Motor proteins, Cytoskeleton in muscle cells.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MYH15	0	[]	2	["Motor proteins","Cytoskeleton in muscle cells"]	0	[]
MYH4	0	[]	2	["Motor proteins","Cytoskeleton in muscle cells"]	0	[]
MYH7B	0	[]	2	["Motor proteins","Cytoskeleton in muscle cells"]	0	[]
MYH13	0	[]	2	["Motor proteins","Cytoskeleton in muscle cells"]	0	[]
MYH3	0	[]	2	["Motor proteins","Cytoskeleton in muscle cells"]	0	[]

Diseases Linked via Similar Genes

Major depressive disorder Linked via 2 of 5 related genesMYH15, MYH13 Anxiety disorder Linked via 1 of 5 related genesMYH15 Bipolar disorder Linked via 1 of 5 related genesMYH15 Hypothyroidism Linked via 1 of 5 related genesMYH15 Insomnia Linked via 1 of 5 related genesMYH15

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Major depressive disorder	2	["MYH15","MYH13"]
Anxiety disorder	1	["MYH15"]
Bipolar disorder	1	["MYH15"]
Hypothyroidism	1	["MYH15"]
Insomnia	1	["MYH15"]