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Gene Review

UNC119  -  unc-119 homolog (C. elegans)

Homo sapiens

Synonyms: HRG4, IMD13, POC7, POC7A, Protein unc-119 homolog A, ...
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Disease relevance of UNC119

  • Human retinal gene 4 (HRG4) (UNC119) is a photoreceptor synaptic protein of unknown function, shown when mutated to cause retinal degeneration in a patient and in a confirmatory transgenic model [1].
  • CONCLUSIONS: Given its strong degree of evolutionary conservation and abundant and nearly exclusive expression in photoreceptors, it is likely that UNC-119 plays an important role in vision and is a strong candidate gene for retinal diseases that map to 17q11.2 [2].

High impact information on UNC119


Biological context of UNC119

  • METHODS: By screening bovine, murine, and human retinal cDNA libraries, human UNC-119 clones of two varieties and a murine cDNA clone corresponding to the most abundant human transcript were isolated [2].
  • Northern blot and reverse transcription-polymerase chain reaction analyses were used to determine tissue distribution of UNC-119 expression; in situ hybridization localized it in retina to photoreceptors [2].
  • Cloning of human and mouse PDE delta cDNAs revealed that PDE delta is a nearly perfectly conserved polypeptide of 150 amino acids that shows partial sequence homology to photoreceptor RG4 of unknown function [6].
  • The function of UNC-119 proteins has been conserved throughout evolution, as transgenic expression of the human UNC119 gene in C. elegans unc-119 mutants restores a wild-type phenotype [7].
  • We determined the nucleotide sequence of a 58 kilobase region on mouse chromosome 11 that encompasses the mouse nude gene and part of the two neighboring genes, encoding a sodium/dicarboxylate co-transporter and the retinal protein 4 [8].

Anatomical context of UNC119


Other interactions of UNC119


Analytical, diagnostic and therapeutic context of UNC119


  1. Photoreceptor synaptic protein HRG4 (UNC119) interacts with ARL2 via a putative conserved domain. Kobayashi, A., Kubota, S., Mori, N., McLaren, M.J., Inana, G. FEBS Lett. (2003) [Pubmed]
  2. Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors. Swanson, D.A., Chang, J.T., Campochiaro, P.A., Zack, D.J., Valle, D. Invest. Ophthalmol. Vis. Sci. (1998) [Pubmed]
  3. Identification of UNC119 as a novel activator of SRC-type tyrosine kinases. Cen, O., Gorska, M.M., Stafford, S.J., Sur, S., Alam, R. J. Biol. Chem. (2003) [Pubmed]
  4. Cloning of the cDNA for a novel photoreceptor protein. Higashide, T., Murakami, A., McLaren, M.J., Inana, G. J. Biol. Chem. (1996) [Pubmed]
  5. Function of the Src-family kinases, Lck and Fyn, in T-cell development and activation. Palacios, E.H., Weiss, A. Oncogene (2004) [Pubmed]
  6. Characterization of human and mouse rod cGMP phosphodiesterase delta subunit (PDE6D) and chromosomal localization of the human gene. Li, N., Florio, S.K., Pettenati, M.J., Rao, P.N., Beavo, J.A., Baehr, W. Genomics (1998) [Pubmed]
  7. unc-119 homolog required for normal development of the zebrafish nervous system. Manning, A.G., Crawford, B.D., Waskiewicz, A.J., Pilgrim, D.B. Genesis (2004) [Pubmed]
  8. Characterization of mouse and human nude genes. Schorpp, M., Hofmann, M., Dear, T.N., Boehm, T. Immunogenetics (1997) [Pubmed]
  9. Methylation of Xenopus CIRP2 regulates its arginine- and glycine-rich region-mediated nucleocytoplasmic distribution. Aoki, K., Ishii, Y., Matsumoto, K., Tsujimoto, M. Nucleic Acids Res. (2002) [Pubmed]
  10. Molecular approach to annelid regeneration: cDNA subtraction cloning reveals various novel genes that are upregulated during the large-scale regeneration of the oligochaete, Enchytraeus japonensis. Myohara, M., Niva, C.C., Lee, J.M. Dev. Dyn. (2006) [Pubmed]
  11. Localization of HRG4, a photoreceptor protein homologous to Unc-119, in ribbon synapse. Higashide, T., McLaren, M.J., Inana, G. Invest. Ophthalmol. Vis. Sci. (1998) [Pubmed]
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