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whirlin (autosomal recessive deafness type 31 protein, WHRN, DFNB31, KIAA1526)

Function: 1) necessary for elongation & maintenance of stereocilia in the inner & outer hair cells in the organ of Corti (inner ear) 2) binds CASK via the C-terminal PDZ region 3) interacts with USH2A & GPR98/MASS1 Structure: - contains 3 PDZ (DHR) domains Compartment: - cytoplasm - detected in stereocilia in cochlear hair cells - co-localizes with growing ends of actin filaments Alternative splicing: named isoforms=4 Expression: - inner hair cells & in outer hair cells in cochlea Pathology: - defects in WHRN are a cause of autosomal recessive deafness type 31

Related

DFNB31 gene mutation

General

cytoskeletal protein

Properties

SIZE: MW = 97 kD entity length = 907 aa COMPARTMENT: cytoplasm MOTIF: serine-rich region {9-31} MOTIF: serine residue (SEVERAL) PDZ domain NAME: PDZ domain SITE: 140-223 PDZ domain NAME: PDZ domain SITE: 279-361 proline-rich region SITE: 581-712 MOTIF: proline residue (SEVERAL) PDZ domain NAME: PDZ domain SITE: 816-899

Database Correlations

OMIM correlations UniProt Q9P202 Pfam PF00595

References

  1. UniProt :accession Q9P202
  2. Hereditary hearing loss homepage http://webhost.ua.ac.be/hhh/