Recombinant Human USH1C, His-tagged

• Cat.No.: USH1C-29611TH
• Product Overview: Recombinant fragment, corresponding to amino acids 1-533 of human USH1C fused to His tag at N-terminus; 570 amino acids, 64.6 kDa.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• ProteinLength: 1-533 a.a.
• 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.
• Conjugation: HIS
• Tissue specificity: Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
• Form: Liquid
• Purity: >95% by SDS-PAGE
• Storage buffer: Preservative: NoneConstituents: 20% Glycerol, 20mM Tris HCl, pH 8.0
• Storage: Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
• Sequences of amino acids: 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 Similarities: Contains 3 PDZ (DHR) domains.

Gene Information

• Gene Name: USH1C Usher syndrome 1C (autosomal recessive, severe) [ Homo sapiens ]
• Official Symbol: USH1C
• Synonyms: USH1C; Usher syndrome 1C (autosomal recessive, severe); deafness, autosomal recessive 18 , DFNB18; harmonin; AIE 75; NY CO 37; NY CO 38; PDZ 73; PDZ73
• Gene ID: 10083
• mRNA Refseq: NM_005709
• Protein Refseq: NP_005700
• MIM: 605242
• Uniprot ID: Q9Y6N9
• Chromosome Location: 11p14.3
• Function: protein binding