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Unc119, C. Elegans, Homolog Of OKDB#: 474
 Symbols: UNC119 Species: rat
 Synonyms: HUMAN RETINAL GENE 4, HRG4|  Locus: 17q11.2 in Homo sapiens


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General Comment Using a subtractive hybridization strategy, Higashide et al. (1996) identified a retina-specific cDNA that they designated HRG4 (human retinal gene-4). Northern blot analysis revealed that the approximately 1.4-kb HRG4 mRNA is expressed specifically in human retina. The authors also cloned a cDNA encoding RRG4, the rat HRG4 homolog. The predicted 240-amino acid human and rat proteins both contain an N-terminal region rich in proline and glycine followed by a region with a mixture of alpha helices, beta sheets, and turns. Sequence comparisons indicated that the proline-glycine domains of RRG4 and HRG4 share only 67% homology, while the rest of the sequence is 100% identical. Mutations in the C. elegans unc119 gene lead to defects in locomotion, feeding behavior, and chemosensation. Higashide et al. (1996) observed that HRG4 shares strong homology with the C. elegans unc119 protein.

NCBI Summary: This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene.
General function
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Cellular localization
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Ovarian function
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Expression regulated by
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Ovarian localization
Comment This gene was found in a rat ovarian cDNA library (Unigene)
Follicle stages
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Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=1609
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created: Jan. 31, 2000, midnight by: uni   email:
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last update: April 15, 2000, midnight by: hsueh    email:



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