Harmonin Recombinant Protein | USH1C recombinant protein

Harmonin, 1-533aa, Human, His tag, E Coli

Cat. Num. AAA203338

• 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
• Applications: SDS-Page
• Purity: > 95% by SDS-PAGE
• Synonyms: Harmonin; 1-533aa; Human; His tag; E Coli; 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).; USH1C recombinant protein

• Host: E Coli
• 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) (varies by lot)
• 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
• Sequence Length: 533

• Applicable Applications for USH1C recombinant protein: SDS-PAGE
• Antigen Species: Human
• Tag Information: His-tag
• 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.

SDS-Page

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

References

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.;

NCBI and Uniprot Product Information

• NCBI GI #: 16359185
• NCBI GeneID: 10083
• Molecular Weight: 64.6 kDa (570aa)
• NCBI Official Full Name: USH1C protein
• 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

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

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).