NP_001242970.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
unconventional myosin-Ia
NCBI Official Synonym Full Names
myosin IA
NCBI Protein Information
unconventional myosin-Ia
UniProt Protein Name
Unconventional myosin-Ia
UniProt Synonym Protein Names
Brush border myosin I; BBM-I; BBMI; Myosin I heavy chain; MIHC
UniProt Synonym Gene Names
UniProt Entry Name
MYO1A_HUMAN
NCBI Summary for MYO1A
This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
UniProt Comments for MYO1A
MYO1A: Involved in directing the movement of organelles along actin filaments (Potential). Defects in MYO1A are the cause of deafness autosomal dominant type 48 (DFNA48). DFNA48 is a form of 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.
Protein type: Motility/polarity/chemotaxis; Motor; Actin-binding
Chromosomal Location of Human Ortholog: 12q13-q14
Cellular Component: filamentous actin; cortical actin cytoskeleton; microvillus; basolateral plasma membrane; apical plasma membrane; cytoplasm; basal plasma membrane; myosin complex; brush border; lateral plasma membrane
Molecular Function: calmodulin binding; motor activity; actin binding; ATP binding
Biological Process: microvillus biogenesis; sensory perception of sound; metabolic process; vesicle localization
Disease: Deafness, Autosomal Dominant 48
Product References and Citations for anti-MYO1A antibody
D'Adamo,P., Pinna,M. Hum. Genet. 112 (3), 319-320 (2003) Hoshimaru,M., Fujio,Y. J. Biochem. 106 (3), 455-459 (1989) Durrbach,A., Collins,K. Proc. Natl. Acad. Sci. U.S.A. 93 (14), 7053-7058 (1996)
Research Articles on MYO1A
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Products associated with anti-MYO1A antibody
Diseases associated with anti-MYO1A antibody
Organs/Tissues associated with anti-MYO1A antibody
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