UNC119 Gene Summary [Human]

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, Jul 2008]

Details

Type
Protein Coding
Official Symbol
UNC119
Official Name
unc-119 lipid binding chaperone [Source:HGNC Symbol;Acc:HGNC:12565]
Ensembl ID
ENSG00000109103
Bio databases IDs NCBI: 9094 Ensembl: ENSG00000109103
Aliases unc-119 lipid binding chaperone, POC7 centriolar protein homolog A (Chlamydomonas)
Synonyms CORD24, D11Bhm52, HRG4, IMD13, MRG4, POC7, POC7A, Rg4, RRG4, Rtg4, UNC119A, UNC119H, unc-119 lipid binding chaperone, Uncl19
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UNC119 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • GMP-PDE, delta subunit
  • lipid binding
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cone-rod dystrophy type 24
  • idiopathic CD4+ T-lymphocytopenia
  • cone-rod dystrophy
regulated by
  • lipopolysaccharide
  • hepatitis B virus
  • ESR1
  • IL5
  • ERK1/2
  • calcitriol
  • TGFB1
  • MYC
  • cerebellar granule cell
  • tacrolimus
regulates
role in cell
  • apoptosis
  • proliferation
  • migration
  • survival
  • invasion by
  • colony formation by
  • interaction in
  • synaptic transmission
  • degeneration

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • centrosome
  • cytoplasmic bridges
  • cytosol
  • spindle pole
  • central spindle

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human UNC119 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of clathrin-mediated endocytosis
  • positive regulation of protein tyrosine kinase activity
  • cytokinesis after mitosis
  • nervous system development
  • synaptic transmission
  • negative regulation of caveolin-mediated endocytosis
  • endocytosis
  • visual perception
  • phototransduction
  • lipoprotein transport

Cellular Component

Where in the cell the gene product is active
  • intercellular bridge
  • centrosome
  • spindle midzone
  • spindle pole
  • cytosol
  • synapse

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • lipid binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.