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Otoferlin

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SNARE (protein) Molecular machinery driving vesicle fusion in neuromediator release.

SNARE (protein)

The core SNARE complex is formed by four α-helices contributed by synaptobrevin, syntaxin and SNAP-25, synaptotagmin serves as a calcium sensor and regulates intimately the SNARE zipping SNARE (an acronym derived from "SNAP (Soluble NSF Attachment Protein) REceptor") proteins are a large protein superfamily consisting of more than 60 members in yeast and mammalian cells.[1] SNAREs can be divided into two categories: vesicle or v-SNAREs, which are incorporated into the membranes of transport vesicles during budding, and target or t-SNAREs, which are located in the membranes of target compartments.

Recent classification however takes account of the structural features of the SNARE proteins and divides them into R-SNAREs and Q-SNAREs. The best-studied SNAREs are those that mediate docking of synaptic vesicles with the presynaptic membrane. SNAREs are small, abundant and mostly plasma membrane-bound proteins. SYT1. Synaptotagmin-1 is a protein that in humans is encoded by the SYT1 gene.[1] The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis.

SYT1

Calcium binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001). [supplied by OMIM][2] SYT1 is the master switch responsible for allowing the human brain to release neurotransmitters. SYT1 senses calcium concentrations as low as 10 ppm and subsequently signals the SNARE complex to open fusion pores.[3] OTOF Gene - GeneCards. Gene in genomic location according to Ensembl data Experimental tissue vectors: Duplicate measurements were obtained for twelve normal human tissues hybridized against Affymetrix GeneChips HG-U95A-E.

OTOF Gene - GeneCards

The intensity values (shown on the y-axis) were normalized and drawn on a novel scale, which is an intermediate between log and linear scales. This enables displaying several orders of magnitude on the same graph, while emphasizing the differences between them. Noise was not subtracted out, so values below 10 may be suspect. Further, each probeset's expression profile was converted into binary form when possible.

Multiple probe-sets corresponding to this gene are included for its tissue vector calculation only if their normalized intensity levels reach a threshold in at least one tissue. Electronic Northern: For the shown set of non-fetal normal human tissues, NCBI's Unigene dataset (Hs.data) is mined for information about the number of unique clones per gene per tissue. Figure legend. Entry - * 603681 - OTOFERLIN; OTOF. Stke.sciencemag.org/content/vol2004/issue264/images/data/re19/DC2/newFasttrack2.swf. Home. OTOF_HUMAN » Otoferlin - Membranome database. Www.jain-foundation.org/sites/default/files/forms/Gene-and-Protein-Sequences/ferlin_domains.pdf.

C2 domain. A C2 domain is a protein structural domain involved in targeting proteins to cell membranes. The typical version (PKC-C2) has a beta-sandwich composed of 8 β-strands that co-ordinates two or three calcium ions, which bind in a cavity formed by the first and final loops of the domain, on the membrane binding face. Many other C2 domain families don't have calcium binding activity.[2][3] Coupling with other domains[edit] Evolution[edit] The C2 domain is currently only known from eukaryotes. Lipid selectivity[edit] C2 domains are unique among membrane targeting domains in that they show wide range of lipid selectivity for the major components of cell membranes, including phosphatidylserine and phosphatidylcholine.

OTOF. Otoferlin is a protein that in humans is encoded by the OTOF gene.[1][2][3] References[edit] Jump up ^ Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (Apr 1999). "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness". Nat Genet 21 (4): 363–9. doi:10.1038/7693. PMID 10192385. External links[edit] GeneReviews/NCBI/NIH/UW entry on OTOF-Related Deafness Further reading[edit] Fukushima K, Ramesh A, Srisailapathy CR et al. (1996).