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USH1C recombinant protein :: Usher Syndrome 1C Recombinant Protein

Scan QR to view Datasheet Catalog #    MBS143498 USH1C recombinant protein
Unit / Price
0.005 mg  /  $140 +1 FREE 8GB USB
0.02 mg  /  $205 +1 FREE 8GB USB
1 mg  /  $2,665 +3 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

Usher Syndrome 1C (USH1C), Recombinant Protein

 Also Known As   

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
 Product Gene Name   

USH1C recombinant protein

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 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
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 Host    E Coli
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 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.
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 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.
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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.
 Product Categories/Family for USH1C recombinant protein    RECOMBINANT & NATURAL PROTEINS; Recombinant Proteins
NCBI/Uniprot data below describe general gene information for USH1C. It may not necessarily be applicable to this product.
 NCBI GI #    663071174
 NCBI GeneID    10083
 NCBI Accession #    NP_001284693.1 [Other Products]
 NCBI GenBank Nucleotide #    NM_001297764.1 [Other Products]
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 UniProt Primary Accession #    Q9Y6N9 [Other Products]
 UniProt Secondary Accession #    Q7RTU8; Q96B29; Q9UM04; Q9UM17; Q9UPC3; A8K423 [Other Products]
 UniProt Related Accession #    Q9Y6N9 [Other Products]
 Molecular Weight    101,344 Da
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 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    Harmonin
 UniProt Gene Name    USH1C [Similar Products]
 UniProt Synonym Gene Names    AIE75 [Similar Products]
 UniProt Entry Name    USH1C_HUMAN
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 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]
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 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
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 Research Articles on USH1C    1. We localized proteins encoded by the top two regulated genes, TBL1X and USH1C, using immunohistochemistry to placental stem and anchoring villi associated with active contractile function.
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 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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Products associated with USH1C recombinant proteinDiseases associated with USH1C recombinant protein
 Reference Product  PubMed Publications
 CDH23 recombinant protein  >45 publications with USH1C and CDH23
 PCDH15 recombinant protein  >31 publications with USH1C and PCDH15
 MYO7A recombinant protein  >28 publications with USH1C and MYO7A
 USH2A recombinant protein  >27 publications with USH1C and USH2A
 USH1G recombinant protein  >26 publications with USH1C and USH1G
 GPR98 recombinant protein  >8 publications with USH1C and GPR98
 OTOG recombinant protein  >3 publications with USH1C and OTOG
 SLC4A7 recombinant protein  >2 publications with USH1C and SLC4A7
 Disease Name  Pubmed Publications
 Nervous System Diseases Antibodies  >93 publications with USH1C and Nervous System Diseases
 Nerve Degeneration Antibodies  >4 publications with USH1C and Nerve Degeneration
 Kidney Diseases Antibodies  >3 publications with USH1C and Kidney Diseases
 Usher syndrome, type 1C Antibodies  >2 publications with USH1C and Usher syndrome, type 1C
 Diabetes Mellitus Antibodies  >1 publications with USH1C and Diabetes Mellitus
 Prenatal Exposure Delayed Effects Antibodies  >1 publications with USH1C and Prenatal Exposure Delayed Effects
Organs/Tissues associated with USH1C recombinant protein
 Organ/Tissue Name  Pubmed Publications
 Eye Antibodies  >36 publications with USH1C and Eye
 Brain Antibodies  >7 publications with USH1C and Brain
 Blood Antibodies  >5 publications with USH1C and Blood
 Kidney Antibodies  >4 publications with USH1C and Kidney
 Intestine Antibodies  >4 publications with USH1C and Intestine
 Bladder Antibodies  >1 publications with USH1C and Bladder
 Testis Antibodies  >1 publications with USH1C and Testis
 Pancreas Antibodies  >1 publications with USH1C and Pancreas
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