InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYO6

Summary

InnateDB Protein

IDBP-93158.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYO6

Protein Name

myosin VI

Synonyms

DFNA22; DFNB37;

Species

Homo sapiens

Ensembl Protein

ENSP00000359002

InnateDB Gene

IDBG-93156 (MYO6)

Protein Structure

UniProt Annotation

Function

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells (By similarity). {ECO:0000250}.

Subcellular Localization

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Golgi apparatus {ECO:0000250}. Nucleus. Cytoplasm, perinuclear region. Membrane, clathrin-coated pit. Cell projection, ruffle membrane; Peripheral membrane protein. Note=Also present in endocyctic vesicles, and membrane ruffles. Translocates from membrane ruffles, endocytic vesicles and cytoplasm to Golgi apparatus, perinuclear membrane and nucleus through induction by p53 and p53-induced DNA damage. Recruited into membrane ruffles from cell surface by EGF- stimulation. Colocalizes with DAB2 in clathrin-coated pits/vesicles. Colocalizes with OPTN at the Golgi complex and in vesicular structures close to the plasma membrane (By similarity). {ECO:0000250}.Isoform 3: Cytoplasmic vesicle, clathrin- coated vesicle membrane.Isoform 4: Cytoplasmic vesicle, clathrin- coated vesicle membrane. Cell projection, ruffle membrane.

Disease Associations

Deafness, autosomal dominant, 22 (DFNA22) [MIM:606346]: 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. {ECO:0000269PubMed:11468689}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 37 (DFNB37) [MIM:607821]: 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. {ECO:0000269PubMed:12687499}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, sensorineural, with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]: An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. {ECO:0000269PubMed:15060111}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in most tissues examined including heart, brain, placenta, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon. Highest levels in brain, pancreas, testis and small intestine. Also expressed in fetal brain and cochlea. Isoform 1 and isoform 2, containing the small insert, and isoform 4, containing neither insert, are expressed in unpolarized epithelial cells. {ECO:0000269PubMed:9259267}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	48 [view]
Protein-Protein	48 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003774	motor activity
GO:0003779	actin binding
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0043531	ADP binding
GO:0051015	actin filament binding
GO:0060001	minus-end directed microfilament motor activity

Biological Process

GO:0006886	intracellular protein transport
GO:0006897	endocytosis
GO:0007268	synaptic transmission
GO:0008152	metabolic process
GO:0030048	actin filament-based movement
GO:0030330	DNA damage response, signal transduction by p53 class mediator
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0051046	regulation of secretion
GO:0061024	membrane organization

Cellular Component

GO:0001726	ruffle
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005765	lysosomal membrane
GO:0005794	Golgi apparatus
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005905	coated pit
GO:0005938	cell cortex
GO:0016020	membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0016459	myosin complex
GO:0016461	unconventional myosin complex
GO:0016591	DNA-directed RNA polymerase II, holoenzyme
GO:0030139	endocytic vesicle
GO:0030665	clathrin-coated vesicle membrane
GO:0031941	filamentous actin
GO:0031965	nuclear membrane
GO:0032587	ruffle membrane
GO:0045334	clathrin-coated endocytic vesicle
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome