USH1C

Harmonin is a protein that in humans is encoded by the USH1C gene.[5][6][7] Required for development and maintenance of cochlear hair cells.[5]

USH1C
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUSH1C, AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst, USH1 protein network component harmonin
External IDsOMIM: 605242 MGI: 1919338 HomoloGene: 77476 GeneCards: USH1C
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11p15.1Start17,493,895 bp[1]
End17,544,416 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10083

72088

Ensembl

ENSG00000006611

ENSMUSG00000030838

UniProt

Q9Y6N9

Q9ES64

RefSeq (mRNA)

NM_001297764
NM_005709
NM_153676

NM_001163733
NM_001291182
NM_023649
NM_153677

RefSeq (protein)

NP_001284693
NP_005700
NP_710142

NP_001157205
NP_001278111
NP_076138
NP_710143

Location (UCSC)Chr 11: 17.49 – 17.54 MbChr 7: 46.2 – 46.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interactions

USH1C has been shown to interact with CDH23.[8][9]

References

  1. GRCh38: Ensembl release 89: ENSG00000006611 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000030838 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C (Sep 2000). "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C". Nature Genetics. 26 (1): 51–5. doi:10.1038/79171. PMID 10973247. S2CID 9383331.
  6. Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (Jun 2002). "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC". Human Genetics. 110 (6): 527–31. doi:10.1007/s00439-002-0732-4. PMID 12107438. S2CID 24276167.
  7. "Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)".
  8. Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (Dec 2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". The EMBO Journal. 21 (24): 6689–99. doi:10.1093/emboj/cdf689. PMC 139109. PMID 12485990.
  9. Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (Nov 2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences of the United States of America. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

Further reading


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