MYH10

myosin heavy chain 10

Ensembl:
ENSG00000133026
UniProt:
P35580
OMIM:
160776
Synonyms:
NMMHCB

Cilia effects upon perturbation of MYH10

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.99) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
increased fasting circulating glucose level, abnormal skin coloration, abnormal pericardium morphology, preweaning lethality, complete penetrance, hemorrhage, embryonic growth retardation, edema, pretal lethality prior to heart atrial septation, abnormal placenta size
Human ciliopathy phenotype:
Heterozygous MYH10 variants cause broad spectrum of neurodevelopmental disorders and variable congenital anomalies affecting most organ systems (16 individuals).

Ciliopathy associations

  • Neurodevelopmental Disorder with Congenital Anomalies

Subcellular localization

cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation

Function

Regulators of the actin cytoskeleton. Required for centriole migration to the apical plasma membrane during the biogenesis of primary cilia. Regulates centrosomal recruitment of IFT88 required for ciliary tip structure (25881509). Required for pericentrosomal recruitment of Cep290, PCM- 1 and Rab11-positive recycling endosomes. It binds and antagonises Myh9 to increase actin dy mics and facilitate the assembly of the pericentrosomal preciliary complex that supplies materials for cilium growth and initiates ciliogenesis (25494100).

Model organism evidence

Mus musculus (2 references)

Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice.

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

PMIDs: 41466333, 39662832

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