USH1C

From Wikipedia, the free encyclopedia

Usher syndrome 1C (autosomal recessive, severe)

PDB rendering based on 1v6b.

Available structures: 1v6b, 1x5n

Identifiers

Symbol(s)

USH1C; AIE-75; DFNB18; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst

External IDs

OMIM: 605242 MGI: 1919338 HomoloGene: 77476

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• cellular_component
Biological Process:	• intracellular signaling cascade • visual perception • sensory perception of sound • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005709 (mRNA)
NP_005700 (protein)

NM_023649 (mRNA)
NP_076138 (protein)

Location

Chr 11: 17.47 - 17.52 Mb

Chr 7: 46.06 - 46.11 Mb

Pubmed search

[1]

[2]

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

[edit] References

^ Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.