Product Name
Harmonin (USH1C), Recombinant Protein
Popular Item
Full Product Name
Harmonin, 1-533aa, Human, His tag, E Coli
Product Synonym Names
Harmonin; uSH1C; AIE-75; DFNB18; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; AIE 75; AIE75; Antigen NY CO 38/NY CO 37; Autoimmune enteropathy related antigen AIE 75; Autoimmune enteropathy related antigen AIE75; Deafness autosomal recessive 18; DFNB 18; NY CO 37; NY CO 38; PDZ 45; PDZ 73; PDZ 73 protein; PDZ 73/NY CO 38; PDZ45; PDZ73; PDZ73 protein; Renal carcinoma antigen NY REN 3; uSH 1C; ush1cpst; usher syndrome 1C; usher syndrome type 1C protein; usher syndrome 1C (autosomal recessive severe).
Product Gene Name
USH1C recombinant protein
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSHMDR KVAREFRHKV DFLIENDAEK DYLYDVLRMY HQTMDVAVLV GDLKLVINEP SRLPLFDAIR PLIPLKHQVE YDQLTPRRSR KLKEVRLDRL HPEGLGLSVR GGLEFGCGLF ISHLIKGGQA DSVGLQVGDE IVRINGYSIS SCTHEEVINL IRTKKTVSIK VRHIGLIPVK SSPDEPLTWQ YVDQFVSESG GVRGSLGSPG NRENKEKKVF ISLVGSRGLG CSISSGPIQK PGIFISHVKP GSLSAEVGLE IGDQIVEVNG VDFSNLDHKE GRELFMTDRE RLAEARQREL QRQELLMQKR LAMESNKILQ EQQEMERQRR KEIAQKAAEE NERYRKEMEQ IVEEEEKFKK QWEEDWGSKE QLLLPKTITA EVHPVPLRKP KYDQGVEPEL EPADDLDGGT EEQGEQDFRK YEEGFDPYSM FTPEQIMGKD VRLLRIKKEG SLDLALEGGV DSPIGKVVVS AVYERGAAER HGGIVKGDEI MAINGKIVTD YTLAEADAAL QKAWNQGGDW IDLVVAVCPP KEYDDELTFF
Purity/Purification
> 95% by SDS-PAGE
Form/Format
Liquid. In 20 mM Tris-HCl Buffer (pH 8.0) containing 20% glycerol.
Concentration
1 mg/ml (determined by Bradford assay) (lot specific)
Preparation and Storage
Can be stored at 4 degree C short term (1-2 weeks).
For long term storage, aliquot and store at -20 degree C or -70 degree C.
Avoid repeated freezing and thawing cycles.
Other Notes
Small volumes of USH1C recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
USH1C recombinant protein
Harmonin, product encoded by uSH1c gene, is a scaffold protein that functions in the assembly of usher protein complexes. usher syndrome type I caused by mutations in uSH1C is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and blindness due to progressive retinitis pigmentosa. Hormonin has the ability to bind to many other proteins in cell membranes and coordinates their activities. Recombinant human Harmonin protein, fused to His-tag at N-terminus, was expressed in E Coli and purified by using conventional chromatography.
Product Categories/Family for USH1C recombinant protein
Cell Cycle
Applications Tested/Suitable for USH1C recombinant protein
SDS-PAGE
SDS-Page of USH1C recombinant protein
NCBI/Uniprot data below describe general gene information for USH1C. It may not necessarily be applicable to this product.
NCBI Accession #
AAH16057
[Other Products]
UniProt Secondary Accession #
Q7RTU8; Q96B29; Q9UM04; Q9UM17; Q9UPC3; A8K423[Other Products]
UniProt Related Accession #
Q9Y6N9[Other Products]
Molecular Weight
64.6 kDa (570aa)[Similar Products]
NCBI Official Full Name
USH1C protein
NCBI Official Synonym Full Names
USH1 protein network component harmonin
NCBI Official Symbol
USH1C [Similar Products]
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
[Similar Products]
NCBI Protein Information
harmonin
UniProt Protein Name
Harmonin
UniProt Synonym Protein Names
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
UniProt Gene Name
USH1C [Similar Products]
UniProt Synonym Gene Names
AIE75 [Similar Products]
NCBI Summary for USH1C
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 Comments for USH1C
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 development and maintenance of cochlear hair cell bundles (). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018).
Product References and Citations for USH1C recombinant protein
Siemens J., et al. (2002). Proc Natl Acad Sci u S A. 99 (23):14946-51.; Ouyang XM., et al. (2002). Hum Genet. 111 (1):26-30.;
Research Articles on USH1C
1. We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease.
Precautions
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Disclaimer
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