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

Gene ID: 4629, updated on 1-Aug-2020

Summary

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
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]
Expression
Biased expression in esophagus (RPKM 836.6), prostate (RPKM 661.4) and 12 other tissues See more
Orthologs

Genomic context

See MYH11 in Genome Data Viewer
Location:
16p13.11
Exon count:
43
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (15703135..15857032, 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 microRNA 484 Neighboring gene nudE neurodevelopment protein 1 Neighboring gene Sharpr-MPRA regulatory region 12074 Neighboring gene Sharpr-MPRA regulatory region 5546 Neighboring gene RNA, U6 small nuclear 213, pseudogene Neighboring gene centrosomal protein 20 Neighboring gene uncharacterized LOC107984869 Neighboring gene ribosomal protein L15 pseudogene 20

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Associated conditions

Description Tests
Aortic aneurysm, familial thoracic 4 Compare labs

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

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
cardiac muscle fiber development IMP
Inferred from Mutant Phenotype
more info
PubMed 
elastic fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
 
skeletal muscle myosin thick filament assembly ISS
Inferred from Sequence or Structural Similarity
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 HDA 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
 

General protein information

Preferred Names
myosin-11
Names
epididymis secretory sperm binding protein
myosin heavy chain, smooth muscle isoform
myosin, heavy chain 11, smooth muscle
myosin, heavy polypeptide 11, smooth muscle

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

  1. NM_001040113.2NP_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
    ENSP00000407821.2, ENST00000452625.7
    Conserved Domains (8) summary
    cd01377
    Location:99778
    MYSc_class_II; class II myosins, motor domain
    pfam00063
    Location:87778
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8551935
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3471
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam09798
    Location:18261942
    LCD1; DNA damage checkpoint protein
    pfam16046
    Location:9971089
    FAM76; FAM76 protein
    cl23717
    Location:10731131
    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:17871874
    DUF2570; Protein of unknown function (DUF2570)
  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
    ENSP00000379616.3, ENST00000396324.7
    Conserved Domains (8) summary
    cl14654
    Location:10271299
    V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
    cd01377
    Location:99778
    MYSc_class_II; class II myosins, motor domain
    pfam00063
    Location:87778
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8551935
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3471
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam16046
    Location:9971089
    FAM76; FAM76 protein
    cl23717
    Location:10731131
    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:17871874
    DUF2570; Protein of unknown function (DUF2570)
  3. NM_002474.3NP_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
    P35749
    UniProtKB/TrEMBL
    A0A024QZJ4
    Related
    ENSP00000300036.5, ENST00000300036.6
    Conserved Domains (3) summary
    cd14921
    Location:99771
    MYSc_Myh11; class II myosin heavy chain 11, motor domain
    pfam01576
    Location:8481928
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3371
    Myosin_N; Myosin N-terminal SH3-like 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/Swiss-Prot
    P35749
    UniProtKB/TrEMBL
    A0A024QZJ6
    Related
    ENSP00000458731.1, ENST00000576790.7
    Conserved Domains (8) summary
    cd14921
    Location:99771
    MYSc_Myh11; class II myosin heavy chain 11, motor domain
    pfam00063
    Location:87771
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8481928
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3471
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam09798
    Location:18191935
    LCD1; DNA damage checkpoint protein
    pfam16046
    Location:9901082
    FAM76; FAM76 protein
    cl23717
    Location:10661124
    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:17801867
    DUF2570; Protein of unknown function (DUF2570)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    15703135..15857032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023250.1XP_016878739.1  myosin-11 isoform X1

    UniProtKB/Swiss-Prot
    P35749
    Conserved Domains (8) summary
    cd01377
    Location:99778
    MYSc_class_II; class II myosins, motor domain
    pfam00063
    Location:87778
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8551935
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3471
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam09798
    Location:18261942
    LCD1; DNA damage checkpoint protein
    pfam16046
    Location:9971089
    FAM76; FAM76 protein
    cl23717
    Location:10731131
    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:17871874
    DUF2570; Protein of unknown function (DUF2570)
  2. XM_011522502.2XP_011520804.1  myosin-11 isoform X2

    See identical proteins and their annotated locations for XP_011520804.1

    Conserved Domains (7) summary
    cd14921
    Location:99771
    MYSc_Myh11; class II myosin heavy chain 11, motor domain
    pfam00063
    Location:87771
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8481928
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3471
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam16046
    Location:9901082
    FAM76; FAM76 protein
    cl23717
    Location:10661124
    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:17801867
    DUF2570; Protein of unknown function (DUF2570)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187607.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1361146..1515023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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