USH1C

Usher syndrome 1C (autosomal recessive, severe)

PDB rendering based on 1v6b.

Available structures
PDB	1X5N, 2KBQ, 2KBR, 2KBS, 3K1R

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

OMIM: 605242 MGI: 1919338 HomoloGene: 77476 GeneCards: USH1C Gene

Gene Ontology
Molecular function	• protein binding
Cellular component	• cytoplasm • stereocilium • apical part of cell
Biological process	• G2/M transition of mitotic cell cycle • sensory perception of sound • photoreceptor cell maintenance • sensory perception of light stimulus • equilibrioception
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 11:
17.52 – 17.57 Mb

Chr 7:
53.45 – 53.49 Mb

PubMed search

[1]

[2]

Harmonin is a protein that in humans is encoded by the USH1C gene.^[1]^[2]^[3]

1 Interactions
2 References
3 External links
4 Further reading

Interactions

USH1C has been shown to interact with CDH23.^[4]^[5]

References

^ Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C (October 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.
^ Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (July 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.
^ "Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10083.
^ Boëda, Batiste; El-Amraoui Aziz, Bahloul Amel, Goodyear Richard, Daviet Laurent, Blanchard Stéphane, Perfettini Isabelle, Fath Karl R, Shorte Spencer, Reiners Jan, Houdusse Anne, Legrain Pierre, Wolfrum Uwe, Richardson Guy, Petit Christine (December 2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". EMBO J. (England) 21 (24): 6689–99. doi:10.1093/emboj/cdf689. ISSN 0261-4189. PMC 139109. PMID 12485990. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139109.
^ Siemens, Jan; Kazmierczak Piotr, Reynolds Anna, Sticker Melanie, Littlewood-Evans Amanda, Müller Ulrich (November 2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proc. Natl. Acad. Sci. U.S.A. (United States) 99 (23): 14946–51. doi:10.1073/pnas.232579599. ISSN 0027-8424. PMC 137525. PMID 12407180. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=137525.

External links

GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I

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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1002/(SICI)1097-0215(19980529)76:5<652::AID-IJC7>3.0.CO;2-P. 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. doi:10.1007/s004390050806. 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. doi:10.1016/S0016-5085(99)70340-9. 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. doi:10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5. PMID 10508479.
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. doi:10.1016/S0378-1119(01)00378-X. 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. doi:10.1086/321277. PMC 1226045. PMID 11398101. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1226045.
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.
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. PMC 137525. PMID 12407180. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=137525.
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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
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. doi:10.1093/emboj/cdf689. PMC 139109. PMID 12485990. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139109.
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. doi:10.1093/hmg/ddg051. PMID 12588794.

PDB gallery

1v6b: Solution structure of the third PDZ domain of mouse harmonin

1x5n: Solution structure of the second PDZ domain of harmonin protein

USH1C

Contents

Interactions

References

External links

Further reading