catalog number :
MBS1394634
products type :
Recombinant Protein
products full name :
Recombinant Human Unconventional myosin-VIIa (MYO7A), partial
products short name :
[Unconventional myosin-VIIa (MYO7A), partial]
products name syn :
[Unconventional myosin-VIIa]
other names :
[unconventional myosin-VIIa isoform 1; Unconventional myosin-VIIa; unconventional myosin-VIIa; myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)); myosin VIIA]
products gene name :
[MYO7A]
products gene name syn :
[MYO7A; USH1B]
other gene names :
[MYO7A; MYO7A; DFNB2; MYU7A; NSRD2; USH1B; DFNA11; MYOVIIA; USH1B]
uniprot entry name :
MYO7A_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
sequence positions :
[838-968aa; Partial]
sequence :
WAVLTVQAYARGMIARRLHQRLRAEYLWRLEAEKMRLAE
EEKLRKEMSAKKAKEEAERKHQERLAQLAREDAERELKE
KEAARRKKELLEQMERARHEPVNHSDMVDKMFGFLGTSG
GLPGQEGQAPSGFE
form :
Liquid containing glycerol
storage stability :
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
image1 heading :
SDS-PAGE
other info1 :
Species: Homo sapiens (Human)
products categories :
Signal Transduction
products description :
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
ncbi acc num :
NP_000251.3
ncbi gb acc num :
NM_000260.3
ncbi pathways :
Disease Pathway (530764); Diseases Associated With Visual Transduction Pathway (771581); Signal Transduction Pathway (477114); The Canonical Retinoid Cycle In Rods (twilight Vision) Pathway (771585); Visual Phototransduction Pathway (771584)
ncbi summary :
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
uniprot summary :
MYO7A: an actin-based motor molecule with ATPase activity and a calcium sensitive calmodulin binding subunit. May play a role in trafficking of ribbon- synaptic vesicle complexes and renewal of outer photoreceptor disks. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity. Seven alternatively spliced isoforms have been described. Protein type: Motility/polarity/chemotaxis; Motor. Chromosomal Location of Human Ortholog: 11q13.5. Cellular Component: stereocilium; photoreceptor inner segment; photoreceptor outer segment; lysosomal membrane; apical plasma membrane; cytoplasm; melanosome; synapse; cell cortex; cytosol; photoreceptor connecting cilium. Molecular Function: microfilament motor activity; actin filament binding; calmodulin binding; protein domain specific binding; protein binding; protein homodimerization activity; spectrin binding; ADP binding; actin-dependent ATPase activity; ATP binding. Biological Process: actin filament-based movement; metabolic process; phagolysosome formation; intracellular protein transport; eye photoreceptor cell development; sensory perception of sound; pigment granule transport; visual perception; lysosome organization and biogenesis; sensory perception of light stimulus; auditory receptor cell stereocilium organization and biogenesis; equilibrioception; post-embryonic organ morphogenesis. Disease: Deafness, Autosomal Recessive 2; Deafness, Autosomal Dominant 11; Usher Syndrome, Type I