MYO7A ELISA Kit for Human(Homo sapiens) | EIAab.comMYO7A ELISA Kit for Human(Homo sapiens)

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Index > Protein center > MYO7A(Gene name) > Human

MYO7A (Gene name),

Myosin-VIIa (Protein name ), MYO7A_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

MYO7A(USH1B);

Protein name:

Myosin-VIIa;

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with PLEKHB1 (via PH domain) (By similarity). Might homodimerize in a two headed molecule through the formation of a coiled-coil rod. Binds MYRIP and WHRN.

Function:

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. In retina, myosin VIIa might play a role in trafficking of ribbon-synaptic vesicle complexes and renewal of the outer photoreceptors disks. In inner ear, it might maintain the rigidity of stereocilia during the dynamic movements of the bundle. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity.

Subcellular Location:

Cytoplasm In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region.

Protein Attributes:

Sequence length:

2215

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2215:

MLTAMSKQRG | SRSGK

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

String:

Q13402

MIM:

276900

UniGene:

Hs.370421

STRING:

9606.ENSP00000386331

SMR:

Q13402

KEGG:

hsa:4647

Pfam:

PF00373

Uniprot:

Q13402

FOR

ELISA Kit for Human Myosin-VIIa

CLIA Kit for Human Myosin-VIIa

Polyclonal Antibody for Human Myosin-VIIa

Monoclonal Antibody for Human Myosin-VIIa

Protein for Human Myosin-VIIa

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia."
Weil D. , Levy G. , Sahly I. , Levi-Acobas F. , Blanchard S. , El-Amraoui A. , Crozet F. , Philippe H. , Abitbol M. , Petit C.
Proc. Natl. Acad. Sci. U.S.A.93:3232-3237(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 5; 6 AND 7);DEVELOPMENTAL STAGE;VARIANTS CYS-1666 AND ILE-1954
tissue: Retina.
2.

"Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B."
Chen Z.-Y. , Hasson T. , Kelley P.M. , Schwender B.J. , Schwartz M.F. , Ramakrishnan M. , Kimberling W.J. , Mooseker M.S. , Corey D.P.
Genomics36:440-448(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4);VARIANTS CYS-1666 AND ILE-1954
tissue: Testis.
3.

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D. , Noguchi H. , Totoki Y. , Toyoda A. , Kuroki Y. , Dewar K. , Lloyd C. , Itoh T. , Takeda T. , Kim D.-W. , She X. , Barlow K.F. , Bloom T. , Bruford E. , Chang J.L. , Cuomo C.A. , Eichler E. , FitzGerald M.G. , more...
Nature440:497-500(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
4.

"Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types."
Bement W.M. , Hasson T. , Wirth J.A. , Cheney R.E. , Mooseker M.S.
Proc. Natl. Acad. Sci. U.S.A.91:6549-6553(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 166-196
tissue: Epithelium.
tissue: Leukocyte.
tissue: Liver.
5.

Bement W.M. , Hasson T. , Wirth J.A. , Cheney R.E. , Mooseker M.S.
Proc. Natl. Acad. Sci. U.S.A.91:11767-11767(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
6.

"Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B."
Hasson T. , Heintzelman M.B. , Santos-Sacchi J. , Corey D.P. , Mooseker M.S.
Proc. Natl. Acad. Sci. U.S.A.92:9815-9819(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1075
tissue: Testis.
7.

"Shotgun sequencing of the human transcriptome with ORF expressed sequence tags."
Dias Neto E. , Correa R.G. , Verjovski-Almeida S. , Briones M.R.S. , Nagai M.A. , da Silva W. Jr. , Zago M.A. , Bordin S. , Costa F.F. , Goldman G.H. , Carvalho A.F. , Matsukuma A. , Baia G.S. , Simpson D.H. , Brunstein A. , de Oliveira P.S.L. , Bucher P. , Jongeneel C.V. , more...
Proc. Natl. Acad. Sci. U.S.A.97:3491-3496(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-117 (ISOFORM 8)
8.

"Defective myosin VIIA gene responsible for Usher syndrome type 1B."
Weil D. , Blanchard S. , Kaplan J. , Guilford P. , Gibson F. , Walsh J. , Mburu P. , Varela A. , Levilliers J. , Weston M.D. , Kelley P.M. , Kimberling W.J. , Wagenaar M. , Levi-Acobas F. , Larget-Piet D. , Munnich A. , Steel K.P. , Brown S.D.M. , more...
Nature374:60-61(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-564 (ISOFORM 1);VARIANTS USH1B
tissue: Retina.
9.

"The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)."
Kelley P.M. , Weston M.D. , Chen Z.-Y. , Orten D.J. , Hasson T. , Overbeck L.D. , Pinnt J. , Talmadge C.B. , Ing P. , Mooseker M.S. , Corey D.P. , Sumegi J. , Kimberling W.J.
Genomics40:73-79(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 79-578
10.

"Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells."
El-Amraoui A. , Sahly I. , Picaud S. , Sahel J. , Abitbol M. , Petit C.
Hum. Mol. Genet.5:1171-1178(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: DEVELOPMENTAL STAGE
11.

"MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes."
El-Amraoui A. , Schonn J.-S. , Kuessel-Andermann P. , Blanchard S. , Desnos C. , Henry J.-P. , Wolfrum U. , Darchen F. , Petit C.
EMBO Rep.3:463-470(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH MYRIP
12.

"Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B."
Gibbs D. , Diemer T. , Khanobdee K. , Hu J. , Bok D. , Williams D.S.
Invest. Ophthalmol. Vis. Sci.51:1130-1135(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;SUBCELLULAR LOCATION;TISSUE SPECIFICITY
13.

"Functional characterization of the human myosin-7a motor domain."
Heissler S.M. , Manstein D.J.
Cell. Mol. Life Sci.69:299-311(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;ENZYME REGULATION
14.

"The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65."
Lopes V.S. , Gibbs D. , Libby R.T. , Aleman T.S. , Welch D.L. , Lillo C. , Jacobson S.G. , Radu R.A. , Steel K.P. , Williams D.S.
Hum. Mol. Genet.20:2560-2570(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;TISSUE SPECIFICITY;INTERACTION WITH RPE65
15.

"Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction."
Grati M. , Kachar B.
Proc. Natl. Acad. Sci. U.S.A.108:11476-11481(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;SUBCELLULAR LOCATION;IDENTIFICATION IN A COMPLEX WITH USH1C AND USH1G;TISSUE SPECIFICITY
16.

"Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients."
Weston M.D. , Kelley P.M. , Overbeck L.D. , Wagenaar M. , Orten D.J. , Hasson T. , Chen Z.-Y. , Corey D.P. , Mooseker M.S. , Sumegi J. , Cremers C. , Moeller C. , Jacobson S.G. , Gorin M.B. , Kimberling W.J.
Am. J. Hum. Genet.59:1074-1083(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B CYS-212; HIS-212; HIS-302; GLN-450; GLN-468 INS AND LEU-503
17.

"Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins."
Adato A. , Weil D. , Kalinski H. , Pel-Or Y. , Ayadi H. , Petit C. , Korostishevsky M. , Bonne-Tamir B.
Am. J. Hum. Genet.61:813-821(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B ARG-214; ASP-397 AND THR-826;POLYMORPHISM
18.

"Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB."
Levy G. , Levi-Acobas F. , Blanchard S. , Gerber S. , Larget-Piet D. , Chenal V. , Liu X.-Z. , Newton V. , Steel K.P. , Brown S.D.M. , Munnich A. , Kaplan J. , Petit C. , Weil D.
Hum. Mol. Genet.6:111-116(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B ARG-25; SER-955 AND GLU-2137;POLYMORPHISM
19.

"Mutations in the myosin VIIA gene cause non-syndromic recessive deafness."
Liu X.-Z. , Walsh J. , Mburu P. , Kendrick-Jones J. , Cope M.J. , Steel K.P. , Brown S.D.M.
Nat. Genet.16:188-190(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DFNB2 PRO-244
20.

"The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene."
Weil D. , Kuessel P. , Blanchard S. , Levy G. , Levi-Acobas F. , Drira M. , Ayadi H. , Petit C.
Nat. Genet.16:191-193(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DFNB2 ILE-599
21.

"Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene."
Liu X.-Z. , Walsh J. , Tamagawa Y. , Kitamura K. , Nishizawa M. , Steel K.P. , Brown S.D.M.
Nat. Genet.17:268-269(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DFNA11 886-ALA--LYS-888 DEL
22.

"Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome."
Liu X.-Z. , Hope C. , Walsh J. , Newton V. , Ke X.M. , Liang C.Y. , Xu L.R. , Zhou J.M. , Trump D. , Steel K.P. , Bundey S. , Brown S.D.M.
Am. J. Hum. Genet.63:909-912(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B PRO-651 AND GLN-1602
23.

"Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance."
Adato A. , Kalinski H. , Weil D. , Chaib H. , Korostishevsky M. , Bonne-Tamir B.
Am. J. Hum. Genet.65:261-265(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT USH1B PRO-1087
24.

"Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity."
Janecke A.R. , Meins M. , Sadeghi M. , Grundmann K. , Apfelstedt-Sylla E. , Zrenner E. , Rosenberg T. , Gal A.
Hum. Mutat.13:133-140(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B;POLYMORPHISM
25.

"Identification of three novel mutations in the MYO7A gene."
Cuevas J.M. , Espinos C. , Millan J.M. , Sanchez F. , Trujillo M.J. , Ayuso C. , Beneyto M. , Najera C.
Hum. Mutat.14:181-181(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B LYS-1170 AND CYS-1719
26.

"Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I."
Bharadwaj A.K. , Kasztejna J.P. , Huq S. , Berson E.L. , Dryja T.P.
Exp. Eye Res.71:173-181(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B GLU-26; MET-67; PRO-90; ASN-134; CYS-241; LYS-269 DEL; VAL-457; ASP-519; ASP-968; GLN-1240; PRO-1288; PHE-1346 DEL; TRP-1743; PRO-1858; LEU-1887 AND ASP-2187
27.

"Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively."
Najera C. , Beneyto M. , Blanca J. , Aller E. , Fontcuberta A. , Millan J.M. , Ayuso C.
Hum. Mutat.20:76-77(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B ASP-397; LYS-1170; LYS-1327; 1347-ARG--PHE-1351 DEL; MET-1566 AND CYS-1719
28.

"Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)."
Luijendijk M.W.J. , Van Wijk E. , Bischoff A.M.L.C. , Krieger E. , Huygen P.L.M. , Pennings R.J.E. , Brunner H.G. , Cremers C.W.R.J. , Cremers F.P.M. , Kremer H.
Hum. Genet.115:149-156(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DFNA11 ILE-458
29.

"Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)."
Bolz H. , Bolz S.-S. , Schade G. , Kothe C. , Mohrmann G. , Hess M. , Gal A.
Hum. Mutat.24:274-275(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DFNA11 CYS-853;INTERACTION WITH CALM;CHARACTERIZATION OF VARIANT DFNA11 CYS-853
30.

"Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation."
Street V.A. , Kallman J.C. , Kiemele K.L.
J. Med. Genet.41:E62-E62(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DFNA11 ARG-722
31.

"Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population."
Ouyang X.M. , Yan D. , Du L.L. , Hejtmancik J.F. , Jacobson S.G. , Nance W.E. , Li A.R. , Angeli S. , Kaiser M. , Newton V. , Brown S.D.M. , Balkany T. , Liu X.Z.
Hum. Genet.116:292-299(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B SER-16; ARG-25; MET-165; TRP-756; ASP-968 AND GLN-1883
32.

"Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%."
Roux A.-F. , Faugere V. , Le Guedard S. , Pallares-Ruiz N. , Vielle A. , Chambert S. , Marlin S. , Hamel C. , Gilbert B. , Malcolm S. , Claustres M.
J. Med. Genet.43:763-768(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B ASP-133; ARG-163; ARG-164; MET-165; THR-198; ALA-204; ASP-519; LYS-1170; GLN-1240; PRO-1858; TRP-1873 AND PHE-1962 DEL;VARIANTS MET-1566 AND CYS-1719
33.

"Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis."
Wang X. , Wang H. , Cao M. , Li Z. , Chen X. , Patenia C. , Gore A. , Abboud E.B. , Al-Rajhi A.A. , Lewis A.R. , Lupski J.R. , Mardon G. , Zhang K. , Muzny D. , Gibbs R.A. , Chen R.
Hum. Mutat.32:1450-1459(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LCA ILE-193
34.

"Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1."
Liu F. , Li P. , Liu Y. , Li W. , Wong F. , Du R. , Wang L. , Li C. , Jiang F. , Tang Z. , Liu M.
Mol. Vis.19:695-701(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN USH1B;VARIANT USH1B LYS-1248
35.

"Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2."
Rong W. , Chen X. , Zhao K. , Liu Y. , Liu X. , Ha S. , Liu W. , Kang X. , Sheng X. , Zhao C.
PLoS ONE9:E97808-E97808(2014) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS USH1B MET-165 AND ARG-946

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