USH1C

Usher syndrome 1C (autosomal recessive, severe)
File:PBB Protein USH1C image.jpg PDB rendering based on 1v6b.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1v6b​, 1x5n​
Identifiers
Symbols	USH1C ; AIE-75; DFNB18; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
External IDs	Template:OMIM5 Template:MGI HomoloGene: 77476
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE USH1C 211184 s at tn.png
File:PBB GE USH1C 205137 x at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Usher syndrome 1C (autosomal recessive, severe), also known as USH1C, is a human gene.

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Scanlan MJ, Chen YT, Williamson B; et al. (1998). "Characterization of human colon cancer antigens recognized by autologous antibodies". Int. J. Cancer. 76 (5): 652–8. PMID 9610721.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jain PK, Lalwani AK, Li XC; et al. (1998). "A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene". Genomics. 50 (2): 290–2. doi:10.1006/geno.1998.5320. PMID 9653658.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Saouda M, Mansour A, Bou Moglabey Y; et al. (1998). "The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region". Hum. Genet. 103 (2): 193–8. PMID 9760205.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Scanlan MJ, Williamson B, Jungbluth A; et al. (1999). "Isoforms of the human PDZ-73 protein exhibit differential tissue expression". Biochim. Biophys. Acta. 1445 (1): 39–52. PMID 10209257.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kobayashi I, Imamura K, Kubota M; et al. (1999). "Identification of an autoimmune enteropathy-related 75-kilodalton antigen". Gastroenterology. 117 (4): 823–30. PMID 10500064.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Scanlan MJ, Gordan JD, Williamson B; et al. (1999). "Antigens recognized by autologous antibody in patients with renal-cell carcinoma". Int. J. Cancer. 83 (4): 456–64. PMID 10508479.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Verpy E, Leibovici M, Zwaenepoel I; et al. (2000). "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C". Nat. Genet. 26 (1): 51–5. doi:10.1038/79171. PMID 10973247.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bitner-Glindzicz M, Lindley KJ, Rutland P; et al. (2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene". Nat. Genet. 26 (1): 56–60. doi:10.1038/79178. PMID 10973248.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zwaenepoel I, Verpy E, Blanchard S; et al. (2001). "Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis". Hum. Mutat. 17 (1): 34–41. doi:10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O. PMID 11139240.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ishikawa S, Kobayashi I, Hamada J; et al. (2001). "Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75". Gene. 267 (1): 101–10. PMID 11311560.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ahmed ZM, Riazuddin S, Bernstein SL; et al. (2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F". Am. J. Hum. Genet. 69 (1): 25–34. PMID 11398101.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Savas S, Frischhertz B, Pelias MZ; et al. (2002). "The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population". Hum. Genet. 110 (1): 95–7. doi:10.1007/s00439-001-0653-7. PMID 11810303.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ahmed ZM, Smith TN, Riazuddin S; et al. (2002). "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC". Hum. Genet. 110 (6): 527–31. doi:10.1007/s00439-002-0732-4. PMID 12107438.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ouyang XM, Xia XJ, Verpy E; et al. (2002). "Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness". Hum. Genet. 111 (1): 26–30. doi:10.1007/s00439-002-0736-0. PMID 12136232.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Siemens J, Kazmierczak P, Reynolds A; et al. (2003). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proc. Natl. Acad. Sci. U.S.A. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMID 12407180.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Boëda B, El-Amraoui A, Bahloul A; et al. (2004). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". EMBO J. 21 (24): 6689–99. PMID 12485990.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Weil D, El-Amraoui A, Masmoudi S; et al. (2003). "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 (5): 463–71. PMID 12588794.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)