InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UNC119

Summary

InnateDB Protein

IDBP-36805.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UNC119

Protein Name

unc-119 homolog (C. elegans)

Synonyms

HRG4; IMD13; POC7; POC7A;

Species

Homo sapiens

Ensembl Protein

ENSP00000337040

InnateDB Gene

IDBG-36803 (UNC119)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:12496276, ECO:0000269PubMed:14757743, ECO:0000269PubMed:19381274, ECO:0000269PubMed:21642972, ECO:0000269PubMed:22085962, ECO:0000269PubMed:23535298}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, spindle. Note=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.

Disease Associations

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.Immunodeficiency 13 (IMD13) [MIM:615518]: 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. {ECO:0000269PubMed:22184408}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Abundantly expressed in retina, in photoreceptor synapses and inner segments. Expressed in a much lesser extent in several other tissues. {ECO:0000269PubMed:9761287}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 118 experimentally validated interaction(s) in this database.

Experimentally validated
Total	118 [view]
Protein-Protein	118 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008289	lipid binding

Biological Process

GO:0007109	cytokinesis, completion of separation
GO:0007268	synaptic transmission
GO:0007601	visual perception
GO:0007602	phototransduction
GO:0042953	lipoprotein transport
GO:0061098	positive regulation of protein tyrosine kinase activity
GO:1900186	negative regulation of clathrin-mediated endocytosis
GO:2001287	negative regulation of caveolin-mediated endocytosis