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The Protein Pages

Myosin VIIa

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 01.06.2000


Description

Myosin VIIa is a member of the unconventional myosin family. It is a motor protein located in the cilia of photoreceptors (6) and in the human embryonic cochlear and vestibular neuroepithelia(4) . It plays a crucial role in RHO transport to the discs (3).

GENE DATA

Exons: 49

Markers / RFLPs:

Transcripts:

Regulatory elements:


Primers: Exons 1 - 14

Chromosome 11 with myosin VIIa locus
Assignment: 11q14 Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie

Usher Syndrome type 1b

PROTEIN DATA

Subunits: 1 Amino acids: 2215 AA
Modifications:


Mr/ Weight:

250 kDa

Cofactors:


Motifs:


PROTEIN DATA

Click on entry to see database record online
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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite
Myosin VIIa MYO7A Homo sapiens EC-
S71932 S60263


GENE DATA

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Gene Subtype Locus Species Genbank Unigene Medline
Myosin VIIa MYO7A Homo sapiens U29336 U55208 U34227 U55209 U39226 U61413 U61414 U61415 U61416 U61417 U61418 U61419 U61420 U61421 U61422 U61423 U61424 U61425 U61426 U61427 U61428 U61429
95174880 96194949 97224487 97038686
Myosin VIIa MYO7A Homo sapiens U61430 U61431 U61432 U61433 U61434 U61435 U61436 U61437 U61438 U61439 U61440 U61441 U61442 U61443 U61444 U61445 U61446 U61447 U61448 U61449 U61450 U61451 U61452 U61453 U61454 U61455 U61456 U61457

Myosin VIIa MYO7A Homo sapiens U61458 U61459 U61460 U61461 U61462 U61463 U61464 U61465 U61466 U61467 U61468 U61469 U61470 U61471 U61472 U61473 U61474 U61475 U61476 U61477 U61478 U61479 U61480 U61481 U61482 U61483 U61484 U17180

Myosin VIIa MYO7A Homo sapiens U61485 U61486 U61487 U61488 U61489 NM_000260 Hs.95361
Myosin VIIa MyoVIIa Mus musculus U81453 Mm.1403 95174881
Myosin VIIa MYO7A Sus scrofa U34226
96003870


GENE LOCUS DATA

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Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link
Myosin VIIa MYO7A Homo sapiens


4647
Myosin VIIa MYO7A Homo sapiens 132543
276903 600060 601317
Myosin VIIa MyoVIIa Mus musculus
Myo7a
17921


References:
1. Adato,A., Weil,D., Kalinski,H., Pelor,Y., Ayadi,H., Petit,C., Korostishevsky,M., and Bonnetamir,B. Mutation Profile Of All 49 Exons Of The Human Myosin VIIA Gene, And Haplotype Analysis, In Usher 1b Families From Diverse Origins. 1997; Am.J.Hum.Genet. 61: 813-821.
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2. Chen,Z.Y., Hasson,T., Kelley,P.M., Schwender,B.J., Schwartz,M.F., Ramakrishnan,M., Kimberling,W.J., Mooseker,M.S., and Corey,D.P. Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. 1996; Genomics. 36: 440-448.
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3. Liu,X., Udovichenko,I.P., Brown,S.D., Steel,K.P., and Williams,D.S. Myosin VIIA Is Required For Normal Opsin Transport Through The Photoreceptor Cilium. 1999; Invest.Ophthalmol.Vis.Sci. 40: S590
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4. Weil,D., Levy,G., Sahly,I., Levi Acobas,F., Blanchard,S., El Amraoui,A., Crozet,F., Philippe,H., Abitbol,M., and Petit,C. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. 1996; Proc.Natl.Acad.Sci.U.S.A. 93: 3232-3237.
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5. Weston,M.D., Kelley,P.M., Overbeck,L.D., Wagenaar,M., Orten,D.J., Hasson,T., Chen,Z.Y., Corey,D., Mooseker,M., Sumegi,J., Cremers,C., Moller,C., Jacobson,S.G., Gorin,M.B., and Kimberling,W.J. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 1996; Am.J.Hum.Genet. 59: 1074-1083.
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6. Wolfrum,U., Liu,X., Schmitt,A., Udovichenko,I.P., and Williams,D.S. Myosin VIIa as a common component of cilia and microvilli. 1998; Cell Motil.Cytoskeleton. 40: 261-271.
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Contact the editor: irpamp@irpa.org
This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz