Recombinant Human USH1C Protein Summary
| Description |
A recombinant protein corresponding to amino acids 1 – 533 of USH1C.
Amino Acid 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 |
| Preparation Method |
E.coli
|
| Protein/Peptide Type |
Recombinant Protein
|
| Gene |
USH1C
|
| Purity |
>95% pure by SDS-PAGE
|
Applications/Dilutions
| Theoretical MW |
64.6 kDa.
Disclaimer note: The observed molecular weight of the protein may vary from the listed predicted molecular weight due to post translational modifications, post translation cleavages, relative charges, and other experimental factors. |
|
| Publications |
|
Reactivity Notes
Human.
Packaging, Storage & Formulations
| Storage |
Store at -80C. Avoid freeze-thaw cycles.
|
| Buffer |
20 mM Tris-HCl buffer (pH 8.0) containing 20% glycerol
|
| Preservative |
No Preservative
|
| Concentration |
1.0 mg/ml
|
| Purity |
>95% pure by SDS-PAGE
|
Notes
The purity of this protein is > 95% by SDS-PAGE. Molecular weight is 64.6 kDa (570aa)
Alternate Names for Recombinant Human USH1C Protein
- AIE75
- AIE-75
- Antigen NY-CO-38/NY-CO-37
- Autoimmune enteropathy-related antigen AIE-75
- deafness, autosomal recessive 18
- DFNB18
- harmonin
- NY-CO-37
- NY-CO-38
- PDZ-45
- PDZ73
- PDZ-73
- PDZ-73/NY-CO-38
- Protein PDZ-73
- Renal carcinoma antigen NY-REN-3
- ush1cpst
- Usher syndrome 1C (autosomal recessive, severe)
- Usher syndrome type-1C protein
Background
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.
