MYO6

This gene encodes a protein involved intracellular vesicle and organelle transport, especially in the hair cell of the inner ear. Mutations in this gene have been found in patients with non-syndromic autosomal dominant and recessive hearing loss. [provided by RefSeq]

Full Name

myosin VI

Function

Myosins are actin-based motor molecules with ATPase activity (By similarity).

Unconventional myosins serve in intracellular movements (By similarity).

Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments (PubMed:10519557).

Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity).

Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity).

Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway (PubMed:16507995).

Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells (PubMed:11447109).

May act as a regulator of F-actin dynamics (By similarity).

As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281).

May play a role in transporting DAB2 from the plasma membrane to specific cellular targets (By similarity).

May play a role in the extension and network organization of neurites (By similarity).

Required for structural integrity of inner ear hair cells (By similarity).

Modulates RNA polymerase II-dependent transcription (PubMed:16949370).

Biological Process

Actin filament-based movement Source: UniProtKB
Actin filament organization Source: GO_Central
DNA damage response, signal transduction by p53 class mediator Source: UniProtKB
Endocytosis Source: UniProtKB
Inner ear auditory receptor cell differentiation Source: GO_Central
Inner ear morphogenesis Source: GO_Central
Intracellular protein transport Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Regulation of secretion Source: UniProtKB
Sensory perception of sound Source: UniProtKB-KW
Vesicle transport along actin filament Source: GO_Central

Cellular Location

Nucleus
Plasma membrane
ruffle membrane
cytosol
Golgi apparatus
trans-Golgi network membrane
Golgi apparatus
Other locations
perinuclear region
clathrin-coated pit
clathrin-coated vesicle
filopodium
microvillus
Note: Also present in endocyctic vesicles (PubMed:16507995). Translocates from membrane ruffles, endocytic vesicles and cytoplasm to Golgi apparatus, perinuclear membrane and nucleus through induction by p53 and p53-induced DNA damage (PubMed:16507995). Recruited into membrane ruffles from cell surface by EGF-stimulation (PubMed:9852149). Colocalizes with DAB2 in clathrin-coated pits/vesicles (PubMed:11967127). Colocalizes with OPTN at the Golgi complex and in vesicular structures close to the plasma membrane (By similarity).
Isoform 3:
Other locations
clathrin-coated vesicle membrane
Isoform 4:
Plasma membrane
ruffle membrane
Other locations
clathrin-coated vesicle membrane

Involvement in disease

Deafness, autosomal dominant, 22 (DFNA22):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness.
Deafness, autosomal recessive, 37 (DFNB37):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (DFNHCM):
An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy.

PTM

Phosphorylation in the motor domain, induced by EGF, results in translocation of MYO6 from the cell surface to membrane ruffles and affects F-actin dynamics. Phosphorylated in vitro by p21-activated kinase (PAK).