Usher Syndrome Protein 1G (USH1G)
[Edit]ANKS4A; SANS; Scaffold protein containing ankyrin repeats and SAM domain
-80062.jpg)
USH1G encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G).
deduced 460-amino acid protein contains 3 ankyrin-like domains near the N terminus, a central region, and a SAM domain and a PDZ-binding motif at the C terminus. The human protein shares 96% sequence identity with the mouse protein.
Organism species: Homo sapiens (Human)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | n/a | Recombinant Usher Syndrome Protein 1G (USH1G) | Recombinant Protein Customized Service Offer |
| Antibodies | n/a | Monoclonal Antibody to Usher Syndrome Protein 1G (USH1G) | Monoclonal Antibody Customized Service Offer |
| n/a | Polyclonal Antibody to Usher Syndrome Protein 1G (USH1G) | Polyclonal Antibody Customized Service Offer | |
| Assay Kits | n/a | CLIA Kit for Usher Syndrome Protein 1G (USH1G) | CLIA Kit Customized Service Offer |
| n/a | ELISA Kit for Usher Syndrome Protein 1G (USH1G) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | n/a | Recombinant Usher Syndrome Protein 1G (USH1G) | Recombinant Protein Customized Service Offer |
| Antibodies | n/a | Monoclonal Antibody to Usher Syndrome Protein 1G (USH1G) | Monoclonal Antibody Customized Service Offer |
| n/a | Polyclonal Antibody to Usher Syndrome Protein 1G (USH1G) | Polyclonal Antibody Customized Service Offer | |
| Assay Kits | n/a | CLIA Kit for Usher Syndrome Protein 1G (USH1G) | CLIA Kit Customized Service Offer |
| n/a | ELISA Kit for Usher Syndrome Protein 1G (USH1G) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | n/a | Recombinant Usher Syndrome Protein 1G (USH1G) | Recombinant Protein Customized Service Offer |
| Antibodies | n/a | Monoclonal Antibody to Usher Syndrome Protein 1G (USH1G) | Monoclonal Antibody Customized Service Offer |
| n/a | Polyclonal Antibody to Usher Syndrome Protein 1G (USH1G) | Polyclonal Antibody Customized Service Offer | |
| Assay Kits | n/a | CLIA Kit for Usher Syndrome Protein 1G (USH1G) | CLIA Kit Customized Service Offer |
| n/a | ELISA Kit for Usher Syndrome Protein 1G (USH1G) | ELISA Kit Customized Service Offer |
- "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment."Hum. Mol. Genet. 18:655-666(2009) [PubMed] [Europe PMC] [Abstract]
- "Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction."Proc. Natl. Acad. Sci. U.S.A. 108:11476-11481(2011) [PubMed] [Europe PMC] [Abstract]
- "The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins."Proc. Natl. Acad. Sci. U.S.A. 107:4040-4045(2010) [PubMed] [Europe PMC] [Abstract]
- "Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo."Science 331:757-760(2011) [PubMed] [Europe PMC] [Abstract]
- "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin."Hum. Mol. Genet. 12:463-471(2003) [PubMed] [Europe PMC] [Abstract]
- "A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome."J. Mol. Med. 83:1025-1032(2005) [PubMed] [Europe PMC] [Abstract]
- "Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum."Ear Hear. 36:205-211(2015) [PubMed] [Europe PMC] [Abstract]