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MYH1 myosin heavy chain 1 [ Homo sapiens (human) ]

Gene ID: 4619, updated on 3-Apr-2024

Summary

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Official Symbol
MYH1provided by HGNC
Official Full Name
myosin heavy chain 1provided by HGNC
Primary source
HGNC:HGNC:7567
See related
Ensembl:ENSG00000109061 MIM:160730; AllianceGenome:HGNC:7567
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MYHa; HEL71; MYHSA1; MyHC-2x; MyHC-2X/D
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 heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]
Expression
Biased expression in prostate (RPKM 4.3), esophagus (RPKM 3.5) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
17p13.1
Exon count:
40
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (10492307..10518542, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10399791..10426053, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10395624..10421859, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10295275-10296474 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10303826-10305025 Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene myosin heavy chain 8 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10350156-10351355 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10353850-10355049 Neighboring gene myosin heavy chain 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10395090-10396289 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10399610-10400809 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10407979-10409178 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10427829-10429028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10446256-10447455 Neighboring gene myosin heavy chain 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10475093-10475685 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10520795-10521295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10521298-10521798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10521799-10522299 Neighboring gene uncharacterized LOC124903927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11731 Neighboring gene myosin heavy chain 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MYH1 is a candidate gene for recurrent rhabdomyolysis in humans. Alsaif HS, et al. Am J Med Genet A, 2021 Jul. PMID 33755318
  2. Wearing of complete dentures reduces slow fibre and enhances hybrid fibre fraction in masseter muscle. Cvetko E, et al. J Oral Rehabil, 2012 Aug. PMID 22489880
  3. Higher amount of MyHC IIX in a wrist flexor in tetraplegic compared to hemiplegic cerebral palsy. Pontén E, et al. J Neurol Sci, 2008 Mar 15. PMID 17916367
  4. Myosin heavy-chain isoform distribution, fibre-type composition and fibre size in skeletal muscle of patients on haemodialysis. Molsted S, et al. Scand J Urol Nephrol, 2007. PMID 17853024
  5. Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients. Sulová M, et al. Eur J Cancer, 2007 Jul. PMID 17524638

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
    Title: MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
  2. Transcriptional levels of MHC-I, MHC-IIa, and MHC-IIb in denervation groups were significantly down-regulated compared with controls
    Title: Transition of myosin heavy chain isoforms in human laryngeal abductors following denervation.
  3. Myosin isoforms impact single-fiber force generation and may lead to alterations in whole skeletal muscle performance.
    Title: Molecular determinants of force production in human skeletal muscle fibers: effects of myosin isoform expression and cross-sectional area.
  4. adaptive response to reduced masticatory load was lower numerical and area proportion of MyHC-1 expressing fibres and higher numerical proportion of hybrid fibres in edentulous compared with dentate subjects
    Title: Wearing of complete dentures reduces slow fibre and enhances hybrid fibre fraction in masseter muscle.
  5. The human genioglossus muscle is composed of conventional myosin heavy chain isoforms and 3 primary myosin heavy chain phenotypes.
    Title: Myosin heavy chain composition of the human genioglossus muscle.
  6. the expression levels of the MHC genes are associated with age and both PGC-1alpha and PGC-1beta and indicate that the MHC genes may to some extent be used to determine fibre-type composition in human skeletal muscle.
    Title: The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes.
  7. we found a higher percentage of fibers expressing fast MyHC IIx in tetraplegic cerebral palsy
    Title: Higher amount of MyHC IIX in a wrist flexor in tetraplegic compared to hemiplegic cerebral palsy.
  8. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Analysis of candidate genes in occurrence and growth of colorectal adenomas.
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  10. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Genetic polymorphisms in hMTH1, hOGG1 and hMYH and risk of chronic benzene poisoning in a Chinese occupational population.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC133384

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in A band IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intercalated disc IEA
Inferred from Electronic Annotation
more info
  
part_of muscle myosin complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of myosin II complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in myosin filament IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
myosin-1
Names
epididymis luminal protein 71
myHC-IIx/d
myosin heavy chain 2x
myosin heavy chain IIx/d
myosin heavy chain, skeletal muscle, adult 1
myosin, heavy chain 1, skeletal muscle, adult
myosin, heavy polypeptide 1, skeletal muscle, adult

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005963.4 → NP_005954.3  myosin-1

    See identical proteins and their annotated locations for NP_005954.3

    Status: REVIEWED

    Source sequence(s)
    AF111785, AJ573764, BC114545, DA826478
    Consensus CDS
    CCDS11155.1
    UniProtKB/Swiss-Prot
    P12882, Q14CA4, Q9Y622
    UniProtKB/TrEMBL
    V9HWC1
    Related
    ENSP00000226207.5, ENST00000226207.6
    Conserved Domains (8) summary
    cd14910
    Location:100 → 770
    MYSc_Myh1_mammals; class II myosin heavy chain 1, motor domain
    pfam00063
    Location:88 → 770
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:850 → 1927
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:36 → 73
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam07851
    Location:1744 → 1853
    TMPIT; TMPIT-like protein
    cl00459
    Location:1299 → 1411
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
    cl19219
    Location:1670 → 1767
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:965 → 1098
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    10492307..10518542 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024675.2 → XP_016880164.1  myosin-1 isoform X1

    UniProtKB/Swiss-Prot
    P12882, Q14CA4, Q9Y622
    UniProtKB/TrEMBL
    V9HWC1
    Conserved Domains (8) summary
    cd14910
    Location:100 → 770
    MYSc_Myh1_mammals; class II myosin heavy chain 1, motor domain
    pfam00063
    Location:88 → 770
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:850 → 1927
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:36 → 73
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam07851
    Location:1744 → 1853
    TMPIT; TMPIT-like protein
    cl00459
    Location:1299 → 1411
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
    cl19219
    Location:1670 → 1767
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:965 → 1098
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    10399791..10426053 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316233.1 → XP_054172208.1  myosin-1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P12882.3 GenPept UniProtKB/Swiss-Prot:P12882

Gene LinkOut

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