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    MYH11 myosin heavy chain 11 [ Homo sapiens (human) ]

    Gene ID: 4629, updated on 3-Apr-2024

    Summary

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    Official Symbol
    MYH11provided by HGNC
    Official Full Name
    myosin heavy chain 11provided by HGNC
    Primary source
    HGNC:HGNC:7569
    See related
    Ensembl:ENSG00000133392 MIM:160745; AllianceGenome:HGNC:7569
    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
    AAT4; FAA4; SMHC; SMMHC; VSCM2; SMMS-1
    Summary
    The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]
    Expression
    Biased expression in esophagus (RPKM 836.6), prostate (RPKM 661.4) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p13.11
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15703135..15857028, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15708067..15861962, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15796992..15950885, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene meiosis regulator and mRNA stability factor 1 Neighboring gene uncharacterized LOC124903649 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15743803-15744304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15744305-15744804 Neighboring gene Sharpr-MPRA regulatory region 7034 Neighboring gene microRNA 484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15766651-15767392 Neighboring gene Sharpr-MPRA regulatory region 12074 Neighboring gene nudE neurodevelopment protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15814393-15815196 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15830279-15831035 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15851659-15852292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15851025-15851658 Neighboring gene uncharacterized LOC124903650 Neighboring gene uncharacterized LOC124903651 Neighboring gene Sharpr-MPRA regulatory region 5546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15901002-15901817 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15929109-15929286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15951931-15952432 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:15972689-15973888 Neighboring gene RNA, U6 small nuclear 213, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15993095-15994294 Neighboring gene centrosomal protein 20 Neighboring gene uncharacterized LOC107984869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:16018443-16018944 Neighboring gene ribosomal protein L15 pseudogene 20

    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. A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus. Chesneau B, et al. Mol Genet Genomic Med, 2021 Nov. PMID 34672437, Free PMC Article
    2. [The Prognostic Factors for AML Children with CBFβ/MYH11 Positive]. Yan M, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2021 Apr. PMID 33812401
    3. The Identification of Key Gene Expression Signature in Prostate Cancer. Huang Y, et al. Crit Rev Eukaryot Gene Expr, 2020. PMID 32558494
    4. Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Gilbert MA, et al. Hum Mutat, 2020 May. PMID 31944481
    5. Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family. Wang Q, et al. J Hum Genet, 2019 Nov. PMID 31427716, Free PMC Article

    See all (131) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.
      Title: A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.
    2. Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia.
      Title: Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia.
    3. [Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFbeta-MYH11 Positive].
      Title: [Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive].
    4. Association of gene polymorphisms in MYH11 and TGF-beta signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.
      Title: Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.
    5. A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
      Title: A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
    6. TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.
      Title: TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.
    7. Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
      Title: Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
    8. Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.
      Title: Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.
    9. Incidental identification of inv(16)(p13.1q22)/CBFB-MYH11 variant transcript in a patient with therapy-related acute myeloid leukemia by routine leukemia translocation panel screen: implications for diagnosis and therapy.
      Title: Incidental identification of inv(16)(p13.1q22)/CBFB-MYH11 variant transcript in a patient with therapy-related acute myeloid leukemia by routine leukemia translocation panel screen: implications for diagnosis and therapy.
    10. Interaction between DNMT3B and MYH11 via hypermethylation regulates gastric cancer progression.
      Title: Interaction between DNMT3B and MYH11 via hypermethylation regulates gastric cancer progression.
    Submit: New GeneRIF Correction See all GeneRIFs (57)

    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

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYH11 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2015-11-12)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    No evidence available (Last evaluated 2015-11-12)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
    EBI GWAS Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of myosin, heavy chain 11 (MYH11, smooth muscle) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    retropepsin gag-pol HIV-1 protease cleaves human myosin heavy chain in vitro PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35232, MGC32963, MGC126726, DKFZp686D10126, DKFZp686D19237

    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 
    enables structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cardiac muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in elastic fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skeletal muscle myosin thick filament assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in smooth muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of muscle myosin complex TAS
    Traceable Author Statement
    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-11
    Names
    epididymis secretory sperm binding protein
    myosin, heavy chain 11, smooth muscle
    myosin, heavy polypeptide 11, smooth muscle

    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.

    Genomic

    1. NG_009299.1 RefSeqGene

      Range
      5003..158896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1401

    mRNA and Protein(s)

    1. NM_001040113.2 → NP_001035202.1  myosin-11 isoform SM2B

      See identical proteins and their annotated locations for NP_001035202.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SM2B) represents the longer transcript. It encodes the isoform SM2B.
      Source sequence(s)
      AA552189, AY520817, BC104906, BX489788
      Consensus CDS
      CCDS45424.1
      UniProtKB/TrEMBL
      B1PS43
      Related
      ENSP00000407821.2, ENST00000452625.7
      Conserved Domains (8) summary
      cd01377
      Location:99 → 778
      MYSc_class_II; class II myosins, motor domain
      pfam00063
      Location:87 → 778
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:855 → 1935
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:34 → 71
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam09798
      Location:1826 → 1942
      LCD1; DNA damage checkpoint protein
      pfam16046
      Location:997 → 1089
      FAM76; FAM76 protein
      cl23717
      Location:1073 → 1131
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
      cl24005
      Location:1787 → 1874
      DUF2570; Protein of unknown function (DUF2570)

    2. NM_001040114.2 → NP_001035203.1  myosin-11 isoform SM1B

      See identical proteins and their annotated locations for NP_001035203.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SM1B) lacks a segment in the coding region, which leads to a frameshift, compared to variant SM2B. The encoded isoform (SM1B) is longer and varies in the carboxyl terminus, compared to isoform SM2B.
      Source sequence(s)
      AA552189, AY520817, BC104906, BX489788
      Consensus CDS
      CCDS45423.1
      UniProtKB/TrEMBL
      B1PS43
      Related
      ENSP00000379616.3, ENST00000396324.7
      Conserved Domains (8) summary
      cl14654
      Location:1027 → 1299
      V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
      cd01377
      Location:99 → 778
      MYSc_class_II; class II myosins, motor domain
      pfam00063
      Location:87 → 778
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:855 → 1935
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:34 → 71
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam16046
      Location:997 → 1089
      FAM76; FAM76 protein
      cl23717
      Location:1073 → 1131
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
      cl24005
      Location:1787 → 1874
      DUF2570; Protein of unknown function (DUF2570)

    3. NM_002474.3 → NP_002465.1  myosin-11 isoform SM1A

      See identical proteins and their annotated locations for NP_002465.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SM1A) lacks two segments in the coding region, compared to variant SM2B. The encoded isoform (SM1A) is shorter and varies in the carboxyl terminus, compared to isoform SM2B.
      Source sequence(s)
      AA552189, AY520817, BC104906, BX489788
      Consensus CDS
      CCDS10565.1
      UniProtKB/Swiss-Prot
      D2JYH7, O00396, O94944, P35749, P78422, Q3MIV8, Q3MNF0, Q3MNF1
      UniProtKB/TrEMBL
      A0A024QZJ4, B1PS43
      Related
      ENSP00000300036.5, ENST00000300036.6
      Conserved Domains (3) summary
      cd14921
      Location:99 → 771
      MYSc_Myh11; class II myosin heavy chain 11, motor domain
      pfam01576
      Location:848 → 1928
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:33 → 71
      Myosin_N; Myosin N-terminal SH3-like domain

    4. NM_022844.3 → NP_074035.1  myosin-11 isoform SM2A

      See identical proteins and their annotated locations for NP_074035.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SM2A) lacks an in-frame segment of the coding region, compared to variant SM2B. It encodes a shorter isoform (SM2A), that is missing an internal segment compared to isoform SM2B.
      Source sequence(s)
      AA552189, AY520817, BC104906, BX489788
      Consensus CDS
      CCDS10566.1
      UniProtKB/TrEMBL
      B1PS43
      Related
      ENSP00000458731.1, ENST00000576790.7
      Conserved Domains (8) summary
      cd14921
      Location:99 → 771
      MYSc_Myh11; class II myosin heavy chain 11, motor domain
      pfam00063
      Location:87 → 771
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:848 → 1928
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:34 → 71
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam09798
      Location:1819 → 1935
      LCD1; DNA damage checkpoint protein
      pfam16046
      Location:990 → 1082
      FAM76; FAM76 protein
      cl23717
      Location:1066 → 1124
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
      cl24005
      Location:1780 → 1867
      DUF2570; Protein of unknown function (DUF2570)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      15703135..15857028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1361146..1515021 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329095.1 → XP_054185070.1  myosin-11 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      15708067..15861962 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380392.1 → XP_054236367.1  myosin-11 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35749.3 GenPept UniProtKB/Swiss-Prot:P35749

    Gene LinkOut

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

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