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, Jul 2008]

Description

Unc-119 lipid binding chaperone

Tissue specificity

Tissue enriched (retina)

Predicted location

Intracellular

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

17 (28546708 - 28552631)

Ensembl ID

ENSG00000109103  (ver. 103.38)

Orthologs

Mouse Unc119: ENSMUSG00000002058

UniProt

Q13432

neXtProt

NX_Q13432

Human splice variants
Mouse splice variants

Protein structure