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HUMAN:MYO7A
Contents
Species (Taxon ID) | Homo sapiens (Human). (9606) | |
Gene Name(s) | MYO7A (synonyms: USH1B) | |
Protein Name(s) | Unconventional myosin-VIIa | |
External Links | ||
UniProt | Q13402 | |
EMBL | U39226 U55208 U55209 AP000752 AP001855 L29146 U34227 BF869194 AH006665 | |
CCDS | CCDS53683.1 CCDS53684.1 | |
PIR | A59255 A59257 I61697 | |
RefSeq | NP_000251.3 NP_001120651.2 NP_001120652.1 | |
UniGene | Hs.370421 | |
ProteinModelPortal | Q13402 | |
SMR | Q13402 | |
BioGrid | 110731 | |
IntAct | Q13402 | |
MINT | MINT-1895479 | |
STRING | 9606.ENSP00000386331 | |
PhosphoSite | Q13402 | |
DMDM | 460018219 | |
MaxQB | Q13402 | |
PaxDb | Q13402 | |
PRIDE | Q13402 | |
DNASU | 4647 | |
Ensembl | ENST00000409619 ENST00000409709 ENST00000458637 | |
GeneID | 4647 | |
KEGG | hsa:4647 | |
UCSC | uc001oyb.2 | |
CTD | 4647 | |
GeneCards | GC11P076839 | |
GeneReviews | MYO7A | |
H-InvDB | HIX0035966 | |
HGNC | HGNC:7606 | |
HPA | CAB034059 HPA028918 | |
MIM | 276900 276903 600060 601317 | |
neXtProt | NX_Q13402 | |
Orphanet | 90635 90636 231169 231178 | |
PharmGKB | PA31411 | |
eggNOG | COG5022 | |
GeneTree | ENSGT00770000120461 | |
HOGENOM | HOG000007836 | |
HOVERGEN | HBG052557 | |
InParanoid | Q13402 | |
KO | K10359 | |
OMA | YTHYHEL | |
OrthoDB | EOG7QG433 | |
PhylomeDB | Q13402 | |
TreeFam | TF335306 | |
Reactome | REACT_160156 | |
ChiTaRS | MYO7A | |
GeneWiki | MYO7A | |
GenomeRNAi | 4647 | |
NextBio | 17912 | |
PRO | PR:Q13402 | |
Proteomes | UP000005640 | |
Bgee | Q13402 | |
CleanEx | HS_MYO7A | |
ExpressionAtlas | Q13402 | |
Genevestigator | Q13402 | |
GO | GO:0016324 GO:0005938 GO:0005737 GO:0005829 GO:0005765 GO:0042470 GO:0031477 GO:0032391 GO:0001917 GO:0001750 GO:0032420 GO:0045202 GO:0051015 GO:0030898 GO:0043531 GO:0005524 GO:0005516 GO:0000146 GO:0030507 GO:0030048 GO:0060088 GO:0050957 GO:0042462 GO:0006886 GO:0007040 GO:0001845 GO:0051904 GO:0048563 GO:0050953 GO:0007605 GO:0007601 | |
Gene3D | 1.20.80.10 2.30.29.30 | |
InterPro | IPR019749 IPR014352 IPR019748 IPR000299 IPR018979 IPR000048 IPR001609 IPR000857 IPR027417 IPR011993 IPR001452 IPR029071 | |
Pfam | PF00373 PF09379 PF00612 PF00063 PF00784 | |
PRINTS | PR00193 | |
SMART | SM00295 SM00015 SM00242 SM00139 SM00326 | |
SUPFAM | SSF47031 SSF50044 SSF52540 SSF54236 | |
PROSITE | PS50057 PS50096 PS51456 PS51016 PS50002 |
Annotations
Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
---|---|---|---|---|---|---|---|---|---|---|
part_of |
GO:0032420 |
stereocilium |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0034613 |
cellular protein localization |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0120044 |
stereocilium base |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
acts_upstream_of_or_within |
GO:0042490 |
mechanoreceptor differentiation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0050957 |
equilibrioception |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0050953 |
sensory perception of light stimulus |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007605 |
sensory perception of sound |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0051015 |
actin filament binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0045202 |
synapse |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0042462 |
eye photoreceptor cell development |
ECO:0000305 |
curator inference used in manual assertion |
GO:0001917 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0030048 |
actin filament-based movement |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007605 |
sensory perception of sound |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007601 |
visual perception |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007040 |
lysosome organization |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005829 |
cytosol |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005765 |
lysosomal membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0001917 |
photoreceptor inner segment |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0001750 |
photoreceptor outer segment |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0000146 |
microfilament motor activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0030507 |
spectrin binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007605 |
sensory perception of sound |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005829 |
cytosol |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0120044 |
stereocilium base |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0060122 |
inner ear receptor cell stereocilium organization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0060113 |
inner ear receptor cell differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0060088 |
auditory receptor cell stereocilium organization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0051904 |
pigment granule transport |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0051875 |
pigment granule localization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0050953 |
sensory perception of light stimulus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048839 |
inner ear development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048563 |
post-embryonic animal organ morphogenesis |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0045202 |
synapse |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0042491 |
inner ear auditory receptor cell differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0042490 |
mechanoreceptor differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0042472 |
inner ear morphogenesis |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0042470 |
melanosome |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0034613 |
cellular protein localization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0032420 |
stereocilium |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0032391 |
photoreceptor connecting cilium |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0030030 |
cell projection organization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
enables |
GO:0019904 |
protein domain specific binding |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
F |
Seeded From UniProt |
complete | ||
part_of |
GO:0016324 |
apical plasma membrane |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007605 |
sensory perception of sound |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007601 |
visual perception |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007600 |
sensory perception |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006909 |
phagocytosis |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006886 |
intracellular protein transport |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0001845 |
phagolysosome assembly |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97479 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:1990435 |
upper tip-link density |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0047485 |
protein N-terminus binding |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0044877 |
protein-containing complex binding |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0043531 |
ADP binding |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0042803 |
protein homodimerization activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
F |
Seeded From UniProt |
complete | ||
part_of |
GO:0031477 |
myosin VII complex |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0030898 |
actin-dependent ATPase activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
F |
Seeded From UniProt |
complete | ||
involved_in |
GO:0030048 |
actin filament-based movement |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0016459 |
myosin complex |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005902 |
microvillus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0005524 |
ATP binding |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0003779 |
actin binding |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0003774 |
motor activity |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8CJE3 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0003774 |
motor activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005524 |
ATP binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005856 |
cytoskeleton |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0016459 |
myosin complex |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0051015 |
actin filament binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0005524 |
ATP binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0003779 |
actin binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0000166 |
nucleotide binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0016459 |
myosin complex |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005856 |
cytoskeleton |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007605 |
sensory perception of sound |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005938 |
cell cortex |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 Weil, D et al. (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374 60-1 PubMed GONUTS page
- ↑ 2.0 2.1 Ahmed, ZM et al. (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am. J. Hum. Genet. 69 25-34 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 Heissler, SM & Manstein, DJ (2012) Functional characterization of the human myosin-7a motor domain. Cell. Mol. Life Sci. 69 299-311 PubMed GONUTS page
- ↑ 4.0 4.1 4.2 4.3 el-Amraoui, A et al. (1996) Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum. Mol. Genet. 5 1171-8 PubMed GONUTS page
- ↑ 5.0 5.1 Soni, LE et al. (2005) The unconventional myosin-VIIa associates with lysosomes. Cell Motil. Cytoskeleton 62 13-26 PubMed GONUTS page
- ↑ 6.0 6.1 Bolz, H et al. (2004) Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Hum. Mutat. 24 274-5 PubMed GONUTS page
- ↑ 7.0 7.1 Papal, S et al. (2013) The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. Hum. Mol. Genet. 22 3773-88 PubMed GONUTS page
a
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- GO:0006909 ! phagocytosis
- GO:0001845 ! phagolysosome assembly
- GO:0001750 ! photoreceptor outer segment
- GO:0001917 ! photoreceptor inner segment
- GO:0032391 ! photoreceptor connecting cilium
- GO:0051875 ! pigment granule localization
- GO:0051904 ! pigment granule transport
- Primates
- GO:0044877 ! protein-containing complex binding
- GO:0019904 ! protein domain specific binding
- GO:0042803 ! protein homodimerization activity
s