Harmonin Recombinant Protein | USH1C recombinant protein

Recombinant Human Harmonin

Cat. Num. AAA1313230

• Gene Names: USH1C; PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Harmonin; Recombinant Human Harmonin; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome type-1C protein; USH1C recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-533aa; Full Length of Isoform 4
• Sequence: MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF
• Sequence Length: 533

• Production Note: Special Offer: The E Coli host-expressed protein is manufactured from a stock plasmid containing the protein gene. E Colihost-expressed protein is stocked in different unit sizes ranging from as small as 10 ug to as large as 1 mg. Bulk inventory is also available. The E Coli host-expressed protein has been ordered over and over again by researchers and has stood the test of time as both a robust protein and important target for the research community. It is part of our new program to make our most popular protein targets and corresponding hosts available in expanded unit sizes and with a quick processing time. Select E Coli host-expressed protein for the fastest delivery among all hosts. Please contact our technical support team or email to [email protected] for more details.
• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-Page

Related Product Information for USH1C recombinant protein

Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Product Categories/Family for USH1C recombinant protein

Neuroscience

References

Characterization of human colon cancer antigens recognized by autologous antibodies.Scanlan M.J., Chen Y.-T., Williamson B., Gure A.O., Stockert E., Gordan J.D., Tuereci O., Sahin U., Pfreundschuh M., Old L.J.3.0.CO;2-P>Int. J. Cancer 76:652-658(1998) Identification of an autoimmune enteropathy-related 75-kilodalton antigen.Kobayashi I., Imamura K., Kubota M., Ishikawa S., Yamada M., Tonoki H., Okano M., Storch W.B., Moriuchi T., Sakiyama Y., Kobayashi K.Gastroenterology 117:823-830(1999) Complete sequencing and characterization of 21,243 full-length human cDNAs.Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.Nat. Genet. 36:40-45(2004) 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., Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.Nature 440:497-500(2006) Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Antigens recognized by autologous antibody in patients with renal-cell carcinoma.Scanlan M.J., Gordan J.D., Williamson B., Stockert E., Bander N.H., Jongeneel C.V., Gure A.O., Jaeger D., Jaeger E., Knuth A., Chen Y.-T., Old L.J.3.0.CO;2-5>Int. J. Cancer 83:456-464(1999) A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.Verpy E., Leibovici M., Zwaenepoel I., Liu X.-Z., Gal A., Salem N., Mansour A., Blanchard S., Kobayashi I., Keats B.J.B., Slim R., Petit C.Nat. Genet. 26:51-55(2000) Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain protein AIE-75.Ishikawa S., Kobayashi I., Hamada J., Tada M., Hirai A., Furuuchi K., Takahashi Y., Ba Y., Moriuchi T.Gene 267:101-110(2001) Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.Ahmed Z.M., Smith T.N., Riazuddin S., Makishima T., Ghosh M., Bokhari S., Menon P.S., Deshmukh D., Griffith A.J., Riazuddin S., Friedman T.B., Wilcox E.R.Hum. Genet. 110:527-531(2002) Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.Weil D., El-Amraoui A., Masmoudi S., Mustapha M., Kikkawa Y., Laine S., Delmaghani S., Adato A., Nadifi S., Zina Z.B., Hamel C., Gal A., Ayadi H., Yonekawa H., Petit C.Hum. Mol. Genet. 12:463-471(2003) An unappreciated role for RNA surveillance.Hillman R.T., Green R.E., Brenner S.E.Genome Biol. 5:R8.1-R8.16(2004) Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.Reiners J., van Wijk E., Maerker T., Zimmermann U., Juergens K., te Brinke H., Overlack N., Roepman R., Knipper M., Kremer H., Wolfrum U.Hum. Mol. Genet. 14:3933-3943(2005) 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) Solution structure of the second PDZ domain of harmonin protein.RIKEN structural genomics initiative (RSGI) Submitted (NOV-2005) to the PDB data bankAssembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23.Pan L., Yan J., Wu L., Zhang M.Proc. Natl. Acad. Sci. U.S.A. 106:5575-5580(2009) The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.Yan J., Pan L., Chen X., Wu L., Zhang M.Proc. Natl. Acad. Sci. U.S.A. 107:4040-4045(2010)

NCBI and Uniprot Product Information

• NCBI GI #: 663071174
• NCBI GeneID: 10083
• NCBI Accession #: NP_001284693.1
• NCBI GenBank Nucleotide #: NM_001297764.1
• UniProt Accession #: Q9Y6N9; Q7RTU8; Q96B29; Q9UM04; Q9UM17; Q9UPC3; A8K423
• Molecular Weight: 76.3 kDa
• NCBI Official Full Name: harmonin isoform c
• NCBI Official Synonym Full Names: USH1 protein network component harmonin
• NCBI Official Symbol: USH1C
• NCBI Official Synonym Symbols: PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
• NCBI Protein Information: harmonin
• UniProt Protein Name: Harmonin
• Protein Family: Harmonin
• UniProt Gene Name: USH1C
• UniProt Synonym Gene Names: AIE75
• UniProt Entry Name: USH1C_HUMAN

NCBI Description

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Uniprot Description

USH1C: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C); also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18). DFNB18 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 11p14.3

Cellular Component: apical part of cell; brush border; cytoplasm; cytoskeleton; cytosol; photoreceptor inner segment; photoreceptor outer segment; plasma membrane; stereocilium; synapse

Molecular Function: actin filament binding; myosin tail binding; protein binding; spectrin binding

Biological Process: auditory receptor cell differentiation; equilibrioception; G2/M transition of mitotic cell cycle; inner ear morphogenesis; inner ear receptor stereocilium organization and biogenesis; parallel actin filament bundle formation; photoreceptor cell maintenance; sensory perception of light stimulus; sensory perception of sound

Disease: Deafness, Autosomal Recessive 18a; Usher Syndrome, Type I; Usher Syndrome, Type Ic