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

    Gene ID: 4629, updated on 28-Jun-2015
    Official Symbol
    MYH11provided by HGNC
    Official Full Name
    myosin, heavy chain 11, smooth muscleprovided by HGNC
    Primary source
    HGNC:HGNC:7569
    See related
    Ensembl:ENSG00000133392; HPRD:01174; MIM:160745; Vega:OTTHUMG00000129935
    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
    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. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Orthologs
    See MYH11 in Epigenomics, MapViewer
    Location:
    16p13.11
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (15703135..15857033, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15796992..15950887, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene KIAA0430 Neighboring gene microRNA 6506 Neighboring gene microRNA 484 Neighboring gene nudE neurodevelopment protein 1 Neighboring gene FGFR1OP N-terminal like Neighboring gene ribosomal protein L15 pseudogene 20

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    NHGRI GWAS Catalog

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

    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

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
      EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
    • EPHA-mediated growth cone collapse, organism-specific biosystem (from REACTOME)
      EPHA-mediated growth cone collapse, organism-specific biosystemEPH/Ephrin signaling is coupled to Rho family GTPases such as Rac, Rho and Cdc42 that connect bidirectional receptor-ligand interactions to changes in the actin cytoskeleton (Noren & Pasquale 2004, G...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate ROCKs, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate ROCKs, organism-specific biosystemRHO associated, coiled-coil containing protein kinases ROCK1 and ROCK2 consist of a serine/threonine kinase domain, a coiled-coil region, a RHO-binding domain and a plekstrin homology (PH) domain int...
    • RHO GTPases activate CIT, organism-specific biosystem (from REACTOME)
      RHO GTPases activate CIT, organism-specific biosystemCitron kinase (CIT) or citron RHO-interacting kinase (CRIK) shares similarities with ROCK kinases. Like ROCK, it consists of a serine/threonine kinase domain, a coiled-coil region, a RHO-binding doma...
    • RHO GTPases activate PAKs, organism-specific biosystem (from REACTOME)
      RHO GTPases activate PAKs, organism-specific biosystemThe PAKs (p21-activated kinases) are a family of serine/threonine kinases mainly implicated in cytoskeletal rearrangements. All PAKs share a conserved catalytic domain located at the carboxyl terminu...
    • RHO GTPases activate PKNs, organism-specific biosystem (from REACTOME)
      RHO GTPases activate PKNs, organism-specific biosystemProtein kinases N (PKN), also known as protein kinase C-related kinases (PKR) feature a C-terminal serine/threonine kinase domain and three RHO-binding motifs at the N-terminus. RHO GTPases RHOA, RHO...
    • Sema4D in semaphorin signaling, organism-specific biosystem (from REACTOME)
      Sema4D in semaphorin signaling, organism-specific biosystemSemaphorin 4D (Sema 4D/CD100) is an axon guidance molecule with two disulfide-linked 150-kDa subunits. SEMA4D is structurally defined by a conserved 500-amino acid extracellular domain with 16 cyste...
    • Sema4D induced cell migration and growth-cone collapse, organism-specific biosystem (from REACTOME)
      Sema4D induced cell migration and growth-cone collapse, organism-specific biosystemSema4D-mediated attraction of endothelial cells requires Rho, but not R-Ras, signaling. Sema4D-mediated plexinB1 activation activates Rho and its downstream effector ROCK. ROCK then phosphorylates ML...
    • Semaphorin interactions, organism-specific biosystem (from REACTOME)
      Semaphorin interactions, organism-specific biosystemSemaphorins are a large family of cell surface and secreted guidance molecules divided into eight classes on the basis of their structures. They all have an N-terminal conserved sema domain. Semaphor...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
      Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ35232, MGC32963, MGC126726, DKFZp686D10126, DKFZp686D19237

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of mitophagy in response to mitochondrial depolarization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cardiac muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    elastic fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ephrin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
     
    skeletal muscle myosin thick filament assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    smooth muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    muscle myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    myosin filament IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    myosin-11
    Names
    myosin-11
    myosin heavy chain 11
    myosin heavy chain, smooth muscle isoform
    myosin, heavy polypeptide 11, smooth muscle

    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
      5001..158896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040113.1NP_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/Swiss-Prot
      P35749
      Related
      ENSP00000407821, OTTHUMP00000256521, ENST00000452625, OTTHUMT00000436647
      Conserved Domains (7) summary
      pfam01576
      Location:10801936
      Myosin_tail_1; Myosin tail
      COG1340
      Location:8651156
      COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
      cd01377
      Location:81789
      MYSc_type_II; Myosin motor domain, type II myosins. Myosin II mediates cortical contraction in cell motility, and is the motor in smooth and skeletal muscle. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Myosins ...
      pfam02736
      Location:3375
      Myosin_N; Myosin N-terminal SH3-like domain
      TIGR03495
      Location:17871874
      Probable_spanin_inner_membrane_subunit; phage lysis regulatory protein, LysB family
      cl22427
      Location:10471205
      Tropomyosin_1; Tropomyosin like
      cl22438
      Location:9841090
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding
    2. NM_001040114.1NP_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/Swiss-Prot
      P35749
      Related
      ENSP00000379616, OTTHUMP00000256520, ENST00000396324, OTTHUMT00000436646
      Conserved Domains (7) summary
      pfam01576
      Location:10801937
      Myosin_tail_1; Myosin tail
      COG1340
      Location:8651156
      COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
      cd01377
      Location:81789
      MYSc_type_II; Myosin motor domain, type II myosins. Myosin II mediates cortical contraction in cell motility, and is the motor in smooth and skeletal muscle. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Myosins ...
      pfam02736
      Location:3375
      Myosin_N; Myosin N-terminal SH3-like domain
      TIGR03495
      Location:17871874
      Probable_spanin_inner_membrane_subunit; phage lysis regulatory protein, LysB family
      cl22427
      Location:10471205
      Tropomyosin_1; Tropomyosin like
      cl22438
      Location:9841090
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding
    3. NM_002474.2NP_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/TrEMBL
      A0A024QZJ4
      UniProtKB/Swiss-Prot
      P35749
      Related
      ENSP00000300036, OTTHUMP00000160389, ENST00000300036, OTTHUMT00000252192
      Conserved Domains (8) summary
      pfam01576
      Location:10731930
      Myosin_tail_1; Myosin tail
      COG1340
      Location:8581149
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam00063
      Location:87771
      Myosin_head; Myosin head (motor domain)
      pfam02736
      Location:3375
      Myosin_N; Myosin N-terminal SH3-like domain
      TIGR03495
      Location:17801867
      phage_LysB; phage lysis regulatory protein, LysB family
      cl19511
      Location:11111222
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
      cl22438
      Location:9771083
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding
      cd14921
      Location:99771
      MYSc_Myh11; class II myosin heavy chain 11, motor domain
    4. NM_022844.2NP_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
      A0A024QZJ6
      UniProtKB/Swiss-Prot
      P35749
      Related
      ENSP00000458731, OTTHUMP00000256523, ENST00000576790, OTTHUMT00000436651
      Conserved Domains (8) summary
      pfam01576
      Location:10731929
      Myosin_tail_1; Myosin tail
      COG1340
      Location:8581149
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam00063
      Location:87771
      Myosin_head; Myosin head (motor domain)
      pfam02736
      Location:3375
      Myosin_N; Myosin N-terminal SH3-like domain
      TIGR03495
      Location:17801867
      phage_LysB; phage lysis regulatory protein, LysB family
      cl19511
      Location:11111222
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
      cl22438
      Location:9771083
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding
      cd14921
      Location:99771
      MYSc_Myh11; class II myosin heavy chain 11, motor domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

      Range
      15703135..15857033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522502.1XP_011520804.1  

      See identical proteins and their annotated locations for XP_011520804.1

      Conserved Domains (8) summary
      pfam01576
      Location:10731929
      Myosin_tail_1; Myosin tail
      COG1340
      Location:8581149
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam00063
      Location:87771
      Myosin_head; Myosin head (motor domain)
      pfam02736
      Location:3375
      Myosin_N; Myosin N-terminal SH3-like domain
      TIGR03495
      Location:17801867
      phage_LysB; phage lysis regulatory protein, LysB family
      cl19511
      Location:11111222
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
      cl22438
      Location:9771083
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding
      cd14921
      Location:99771
      MYSc_Myh11; class II myosin heavy chain 11, motor domain

    Reference GRCh38.p2 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p2 ALT_REF_LOCI_1

      Range
      1361146..1515026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011546698.1XP_011545000.1  

      See identical proteins and their annotated locations for XP_011545000.1

      Conserved Domains (8) summary
      pfam01576
      Location:10731929
      Myosin_tail_1; Myosin tail
      COG1340
      Location:8581149
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam00063
      Location:87771
      Myosin_head; Myosin head (motor domain)
      pfam02736
      Location:3375
      Myosin_N; Myosin N-terminal SH3-like domain
      TIGR03495
      Location:17801867
      phage_LysB; phage lysis regulatory protein, LysB family
      cl19511
      Location:11111222
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
      cl22438
      Location:9771083
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding
      cd14921
      Location:99771
      MYSc_Myh11; class II myosin heavy chain 11, motor domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      15881372..16035249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)