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

    Gene ID: 4619, updated on 5-May-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
    mouse all
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    Genomic context

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    See MYH1 in Genome Data Viewer
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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