USH1C / Harmonin Recombinant Protein | USH1C recombinant protein

Recombinant Human USH1C / Harmonin Protein (His tag)

Cat. Num. AAA2546163

• 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
• Purity: > 92 % as determined by SDS-PAGE
• Synonyms: USH1C / Harmonin; Recombinant Human USH1C / Harmonin Protein (His tag); AIE-75; DFNB18; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst; USH1C recombinant protein

• Host: E Coli
• Purity/Purification: > 92 % as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile 50mM Tris, 20% glycerol, pH 7.7
• Sequence Length: 533

• Application Notes: The recombinant human USH1C consisting of 563 amino acids and migrates as an 63.7 kDa band in SDS-PAGE under reducing conditions as predicted.
• Predicted N Terminal: Met
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -70 degree C

SDS-PAGE

Related Product Information for USH1C recombinant protein

Background: Harmonin, also known as 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 and USH1C, is a protein which is expressed in small intestine, colon, kidney, eye and weakly in pancreas. USH1C is expressed also in vestibule of the inner ear. USH1C contains 3 PDZ (DHR) domains. USH1C may be involved in protein-protein interaction. 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). Defects in USH1C are also the cause of deafness autosomal recessive type 18 (DFNB18) which 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.

Description: A DNA sequence encoding the native human USH1C (Q9Y6N9-1) (Met 1-Phe 552) was expressed, with a polyhistide tag at the N-terminus.

NCBI and Uniprot Product Information

• NCBI GI #: 663071174
• NCBI GeneID: 10083
• NCBI Accession #: NP_001284693.1
• NCBI GenBank Nucleotide #: NM_001297764.1
• UniProt Accession #: Q9Y6N9; Q7RTU8; Q96B29; Q9UM04; Q9UM17; Q9UPC3; A8K423
• Molecular Weight: 101,344 Da
• NCBI Official Full Name: harmonin isoform c
• 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

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: 11p15.1

Cellular Component: apical part of cell; brush border; cytoplasm; microvillus; stereocilium

Molecular Function: protein binding; spectrin binding

Biological Process: cellular protein complex assembly; equilibrioception; G2/M transition of mitotic cell cycle; photoreceptor cell maintenance; regulation of microvillus length; sensory perception of light stimulus; sensory perception of sound

Disease: Deafness, Autosomal Recessive 18a; Usher Syndrome, Type I; Usher Syndrome, Type Ic