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USH1C recombinant protein :: Usher Syndrome 1C Recombinant Protein

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Catalog # MBS143498
Unit / Price
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  0.005 mg  /  $140 +1 FREE 8GB USB
  0.02 mg  /  $205 +1 FREE 8GB USB
  1 mg  /  $2,665 +3 FREE 8GB USB
USH1C recombinant protein
Product Name

Usher Syndrome 1C (USH1C), Recombinant Protein

Full Product Name

Recombinant Human Usher Syndrome 1C

Product Synonym Names
USH1C Human; Usher Syndrome 1C Human Recombinant; Harmonin; Usher syndrome type-1C protein; Autoimmune enteropathy-related antigen AIE-75; Antigen NY-CO-38/NY-CO-37; PDZ-73 protein; Renal carcinoma antigen NY-REN-3; USH1C; AIE75; PDZ73; AIE-75; DFNB18; PDZ-45; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
MRGSHHH HHH 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
OMIM
276900
3D Structure
ModBase 3D Structure for Q9Y6N9
Host
E Coli
Purity/Purification
Greater than 95.0% as determined by SDS-PAGE.
Form/Format
USH1C protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH 8.0) and 20% glycerol.
Sterile Filtered colorless solution.
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
Description: USH1C Human Recombinant fused with a 37 amino acid His tag at N-terminus produced in E Coli is a single, non-glycosylated, polypeptide chain containing 570 amino acids (1-533 a.a.) and having a molecular mass of 64.6kDa.The USH1C is purified by proprietary chromatographic techniques.

Introduction: USH1C gene product Harmonin, is a scaffold protein which functions in the assembly of Usher protein complexes. Harmonin is able to attach to various proteins in cell membranes and coordinate their activities. Harmonin contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. USH1C is expressed in the small intestine, colon, kidney, eye, vestibule of the inner ear and weakly in the pancreas. Mutations in the USH1C gene cause the Usher syndrome type I which is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and blindness due to progressive retinitis pigmentosa. Sensorineural deafness is caused by 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. The 3 types of the Usher syndrome (1- 3) are distinguished by age at onset and differences in auditory and vestibular function. USH1C gene defects cause of non-syndromic sensorineural deafness autosomal recessive type 18 (DFNB18), is a form of sensorineural hearing loss.
NCBI/Uniprot data below describe general gene information for USH1C. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
NCBI GenBank Nucleotide #
UniProt Primary Accession #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
101,344 Da
NCBI Official Full Name
harmonin isoform c
NCBI Official Synonym Full Names
Usher syndrome 1C (autosomal recessive, severe)
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; antigen NY-CO-38/NY-CO-37; autoimmune enteropathy-related antigen AIE-75; renal carcinoma antigen NY-REN-3; usher syndrome type-1C protein
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
Protein Family
UniProt Gene Name
USH1C  [Similar Products]
UniProt Synonym Gene Names
AIE75  [Similar Products]
UniProt Entry Name
USH1C_HUMAN
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
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: stereocilium; photoreceptor inner segment; photoreceptor outer segment; cytoskeleton; apical part of cell; cytoplasm; plasma membrane; synapse; cytosol; brush border

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

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

Disease: Usher Syndrome, Type Ic; Usher Syndrome, Type I; Deafness, Autosomal Recessive 18a
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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