Homo sapiens Gene: MYO7A
Summary
InnateDB Gene IDBG-65343.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYO7A
Gene Name myosin VIIA
Synonyms DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B;
Species Homo sapiens
Ensembl Gene ENSG00000137474
Encoded Proteins
myosin VIIA
myosin VIIA
myosin VIIA
myosin VIIA
myosin VIIA
myosin VIIA
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:77128264-77215239
Strand Forward strand
Band q13.5
Transcripts
ENST00000409709 ENSP00000386331
ENST00000409619 ENSP00000386635
ENST00000409893 ENSP00000386689
ENST00000458637 ENSP00000392185
ENST00000458169 ENSP00000417017
ENST00000481328
ENST00000467137
ENST00000481532
ENST00000526863
ENST00000605744
ENST00000620575 ENSP00000477640
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000146 microfilament motor activity
GO:0003774 motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0019904 protein domain specific binding
GO:0030507 spectrin binding
GO:0030898 actin-dependent ATPase activity
GO:0032403 protein complex binding
GO:0042803 protein homodimerization activity
GO:0043531 ADP binding
GO:0046983 protein dimerization activity
GO:0051015 actin filament binding
Biological Process
GO:0001845 phagolysosome assembly
GO:0006200 ATP catabolic process
GO:0006886 intracellular protein transport
GO:0006909 phagocytosis
GO:0007040 lysosome organization
GO:0007600 sensory perception
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0008152 metabolic process
GO:0030030 cell projection organization
GO:0030048 actin filament-based movement
GO:0042462 eye photoreceptor cell development
GO:0042472 inner ear morphogenesis
GO:0042490 mechanoreceptor differentiation
GO:0042491 auditory receptor cell differentiation
GO:0048563 post-embryonic organ morphogenesis
GO:0048839 inner ear development
GO:0050953 sensory perception of light stimulus
GO:0050957 equilibrioception
GO:0051875 pigment granule localization
GO:0051904 pigment granule transport
GO:0060088 auditory receptor cell stereocilium organization
GO:0060113 inner ear receptor cell differentiation
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005902 microvillus
GO:0005938 cell cortex
GO:0016324 apical plasma membrane
GO:0016459 myosin complex
GO:0031477 myosin VII complex
GO:0032391 photoreceptor connecting cilium
GO:0032420 stereocilium
GO:0042470 melanosome
GO:0045202 synapse
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
The canonical retinoid cycle in rods (twilight vision) pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
Disease pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.370421 Hs.609270
RefSeq NM_000260 NM_001127179 NM_001127180 XM_005274012 XM_006718559 XM_006718560 XM_006718561
HUGO
OMIM
CCDS CCDS53683 CCDS53684 CCDS53685
HPRD 02043
IMGT
EMBL
GenPept
RNA Seq Atlas