MYH9

myosin heavy chain 9

Ensembl:
ENSG00000100345
UniProt:
P35579
OMIM:
160775
Synonyms:
DFNA17, EPSTS, FTNS, MHA, NMHC-II-A

Cilia effects upon perturbation of MYH9

Cilia number / % ciliated:
Incrased cilia number
Loss-of-function effect:
Longer cilia
Overexpression effect:
Decreased

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.98) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=4.33) PMID:20393562

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance
Mouse ciliopathy phenotype:
increased circulating aspartate transamise level
Human ciliopathy phenotype:
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; autosomal dominant nonsyndromic hearing loss 17; autosomal dominant nonsyndromic hearing loss 2A

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • T cell biology
  • Viral interactions
  • Protein processing & maturation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development

Function

NEK9 interacts with MYH9 (also known as myosin IIA), which has been implicated in inhibiting ciliogenesis through stabilization of the actin network. MYH9 accumulates in NEK9 LIR mutant cells and mice, and depletion of MYH9 restores ciliogenesis in NEK9 LIR mutant cells ( 34078910).

Model organism evidence

C. elegans (1 reference)

elegans for altered patterns of GFP-tagged DLK-1 expressed from the endogenous locus, we have recently uncovered a mechanism by which the abundance of DLK-1 is tightly regulated by intraflagellar transport in ciliated sensory neurons.

PMIDs: 39854273

Mus musculus (2 references)

Compared to wildtype (WT), LZKO CB-MSCs had elongated primary cilia with tapered tips and increased levels of peroxisome proliferator-activated receptor γ (PPARγ), a key transcription factor that favors adipogenesis, and nuclear glucocorticoid receptor (GR), a transcription factor involved in Pp

Concordantly, LUZP1 is an actin and microtubule-associated protein, which localizes to the centrosome, the basal body of primary cilia, the midbody, actin filaments and cellular junctions.

PMIDs: 39662832, 35738212