ID:U119A_HUMAN DESCRIPTION: RecName: Full=Protein unc-119 homolog A; AltName: Full=Retinal protein 4; Short=hRG4; FUNCTION: Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N- terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G- protein localization and trafficking in sensory neurons. Binds myristoylated NPHP3; however, in contrast to UNC119B, does not seem to play a major role in ciliary membrane localization of NPHP3. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells. SUBUNIT: Interacts with CABP4; in the absence of calcium. May interact with ARL1, ARL2 and ARL3 GTP-bound forms. Found in a complex with ARL3, RP2 and UNC119; RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119. Interacts with NPHP3 (when myristoylated). Interacts with CYS1 (when myristoylated). Interacts with C5orf30; interaction only takes place when UNC119 is not liganded with myristoylated proteins. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. TISSUE SPECIFICITY: Retinal-specific. Localized in photoreceptor synapses in the outer plexiform layer of the retina. DOMAIN: Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that capture N-terminally myristoylated target peptides (PubMed:21642972). Phe residues within the hydrophobic beta sandwich are required for myristate binding (PubMed:22085962). DISEASE: Note=Defects in UNC119 may be a cause of cone-rod dystrophy. A mutation was found in a 57-year-old woman with late- onset cone-rod dystrophy: from 40 year old, the patient suffered from poor night vision, defective color vision and light- sensitivity. At 57 year old, she displayed reduced visual acuity, myopa, macular atrophy and pericentral ring scotomas. The disease was caused by a heterozygous mutation causing premature termination and truncated UNC119 protein with dominant-negative effect. SIMILARITY: Belongs to the PDE6D/unc-119 family. CAUTION: According to some authors, acts by extracting target proteins from membranes (PubMed:21642972). According to a another report, rather acts by targeting proteins to membranes (PubMed:22085962).
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13432
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000281 mitotic cytokinesis GO:0006897 endocytosis GO:0007268 chemical synaptic transmission GO:0007399 nervous system development GO:0007601 visual perception GO:0007602 phototransduction GO:0015031 protein transport GO:0030182 neuron differentiation GO:0042953 lipoprotein transport GO:0050896 response to stimulus GO:0061098 positive regulation of protein tyrosine kinase activity GO:1900186 negative regulation of clathrin-dependent endocytosis GO:2001287 negative regulation of caveolin-mediated endocytosis
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
