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MYO7A rabbit pAb

CAT: 0855-ES9855-01Size: 50 µLDry Ice: NoHazardous: No
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Background
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]
Description
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
Q13402
Swiss Prot
Q13402
Reactivity
Human; Mouse
Immunogen
Synthesized peptide derived from human protein . at AA range: 830-910
Clonality
Polyclonal
Source
Rabbit
Applications
WB; ELISA
Concentration
1 mg/ml
Dilution
WB 1:500-2000 ELISA 1:5000-20000
Molecular Weight
243kD
Storage Conditions
-20°C/1 year
Observed Molecular Weight
243kD
Fragment
IgG
Subcellular Location
Cytoplasm . Cytoplasm, cell cortex . Cytoplasm, cytoskeleton . Cell junction, synapse . In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region (PubMed:8842737) . In retinal pigment epithelial cells colocalizes with a subset of melanosomes, displays predominant localization to stress fiber-like structures and some localization to cytoplasmic puncta (PubMed:19643958, PubMed:27331610) . Detected at the tip of cochlear hair cell stereocilia (PubMed:21709241) . The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin (PubMed:21709241) . .
Gene ID (Human)
4647

UniProtKB · Q13402

Unconventional myosin-VIIa

MYO7A_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
Q13402
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
MYO7A
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
—
Processing
—
Secondary accessions
B9A011, F8VUN5, P78427, Q13321, Q14785, Q92821, Q92822
Protein keywords

Technical term

3D-structureProteomics identificationReference proteome

Molecular function

Actin-bindingCalmodulin-bindingMotor proteinMyosin

Coding sequence diversity

Alternative splicing

Ligand

ATP-bindingNucleotide-binding

Cellular component

CytoplasmCytoskeletonSynapse

Disease

DeafnessDisease variantLeber congenital amaurosisNon-syndromic deafnessRetinitis pigmentosaUsher syndrome

Biological process

Hearing

PTM

Phosphoprotein

Domain

RepeatSH3 domain

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