UNC119

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. [provided by RefSeq]

Full Name

unc-119 homolog (C. elegans)

Function

Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. 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. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A.

Biological Process

Biological Process chemical synaptic transmission Source:ProtInc1 Publication
Biological Process endocytosis Source:UniProtKB-KW
Biological Process lipoprotein transport Source:UniProtKB2 Publications
Biological Process mitotic cytokinesis Source:UniProtKB1 Publication
Biological Process negative regulation of caveolin-mediated endocytosis Source:UniProtKB
Biological Process negative regulation of clathrin-dependent endocytosis Source:UniProtKB
Biological Process nervous system development Source:GO_Central1 Publication
Biological Process phototransduction Source:ProtInc1 Publication
Biological Process positive regulation of protein tyrosine kinase activity Source:UniProtKB1 Publication
Biological Process visual perception Source:GO_Central1 Publication

Cellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Cytoplasm, cytoskeleton, spindle pole
Cytoplasm, cytoskeleton, spindle
Localizes to the centrosome in interphase cells and begins to translocate from the spindle pole to the spindle midzone after the onset of mitosis; it then localizes to the intercellular bridge in telophase cells and to the midbody in cytokinetic cells.

Involvement in disease

Immunodeficiency 13 (IMD13):
A rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy.

PTM

Phosphorylation suppresses its interaction with KLHL18 and down-regulates its KLHL18-mediated degradation (PubMed:31696965).
Phosphorylated more under light conditions than dark conditions (PubMed:31696965).
Dephosphorylated by calcineurin (PubMed:31696965).