U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    UNC119 unc-119 lipid binding chaperone [ Homo sapiens (human) ]

    Gene ID: 9094, updated on 28-Oct-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    UNC119provided by HGNC
    Official Full Name
    unc-119 lipid binding chaperoneprovided by HGNC
    Primary source
    HGNC:HGNC:12565
    See related
    Ensembl:ENSG00000109103 MIM:604011; AllianceGenome:HGNC:12565
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HRG4; POC7; IMD13; POC7A; CORD24
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 17.1), bone marrow (RPKM 16.7) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See UNC119 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28546707..28552628, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29489330..29495251, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26873725..26879646, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 13 member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26810033-26810546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11928 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:26828166-26828362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26834617-26835569 Neighboring gene forkhead box N1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26873952-26874789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26874790-26875626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8343 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class S Neighboring gene ReSE screen-validated silencer GRCh37_chr17:26897886-26898082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8344 Neighboring gene aldolase, fructose-bisphosphate C

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. UNC119 promotes the growth and migration of hepatocellular carcinoma via Wnt/β-catenin and TGF-β/EMT signaling pathways. Liu Z, et al. J BUON, 2018 Jan-Feb. PMID 29552781
    2. Consequences of a mutation in the UNC119 gene for T cell function in idiopathic CD4 lymphopenia. Gorska MM, et al. Curr Allergy Asthma Rep, 2012 Oct. PMID 22729960
    3. Expression and subcellular distribution of UNC119a, a protein partner of transducin α subunit in rod photoreceptors. Sinha S, et al. Cell Signal, 2013 Jan. PMID 23072788, Free PMC Article
    4. Coordinating the uncoordinated: UNC119 trafficking in cilia. Jean F, et al. Eur J Cell Biol, 2017 Oct. PMID 28935136
    5. UNC119 promotes the growth and migration of hepatocellular carcinoma via Wnt/β/catenin and TGF/β-EMT signaling pathways. Liu Z, et al. J BUON, 2018 Jan-Feb. PMID 29552782

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The RAS-interacting chaperone UNC119 drives the RASSF6-MDM2-p53 axis and antagonizes RAS-mediated malignant transformation.
      Title: The RAS-interacting chaperone UNC119 drives the RASSF6-MDM2-p53 axis and antagonizes RAS-mediated malignant transformation.
    2. UNC119 was significantly upregulated and promoted cell growth in hepatic cancer cells and tissues by the Wnt/beta-catenin signal pathway and migration by TGF-beta/EMT signal pathway. Curcumin treatment inhibited cell proliferation, growth, migration, and invasion by inhibition of those pathways.
      Title: Curcumin Modulates Hepatocellular Carcinoma by Reducing UNC119 Expression.
    3. UNC119 was significantly up-regulated in liver cancer cells and tissues. It promoted cell growth and migration through the Wnt/beta-catenin and TGF-beta/EMT signaling pathways, respectively.
      Title: UNC119 promotes the growth and migration of hepatocellular carcinoma via Wnt/β/catenin and TGF/β-EMT signaling pathways.
    4. UNC119 is significantly up-regulated and promoted cell growth and migration in hepatic cancer cells and tissues via Wnt/b-catenin signal pathway and TGF-b/EMT signal pathway
      Title: UNC119 promoted cell growth and migration by Wnt/β-catenin signal and TGF-β/EMT signal pathway in hepatocellular carcinoma.
    5. UNC119 was significantly up-regulated in liver cancer cells and tissues. It promoted cell growth and migration through the Wnt/beta-catenin and TGF-beta/EMT signaling pathways, respectively
      Title: UNC119 promotes the growth and migration of hepatocellular carcinoma via Wnt/β-catenin and TGF-β/EMT signaling pathways.
    6. The findings support that UNC119 is a regulator of the RASSF6-MDM2-p53 axis and functions as a tumor suppressor.
      Title: UNC119 is a binding partner of tumor suppressor Ras-association domain family 6 and induces apoptosis and cell cycle arrest by MDM2 and p53.
    7. This review will outline the trafficking pathways required for constructing the cilium by highlighting UNC119's role and the complexities involved in ciliary trafficking. Finally, despite important roles for UNC119 in cilia, UNC119 proteins also interact with non-ciliary proteins to affect other cellular processes.
      Title: Coordinating the uncoordinated: UNC119 trafficking in cilia.
    8. Data show that the solubilising factor UNC119 sequesters myristoylated Src family protein tyrosine kinases (SFKs) to maintain its enrichment at the plasma membrane to enable signal transduction.
      Title: Spatial cycles mediated by UNC119 solubilisation maintain Src family kinases plasma membrane localisation.
    9. Studies indicate that the binding of UNC119 and PDE6D, to the lipid-modified ciliary cargo and the specific release of the cargo in the cilia by the ciliary small G-protein Arl3 in a GTP-dependent manner.
      Title: Shuttling and sorting lipid-modified cargo into the cilia.
    10. Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3.
      Title: Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cone-rod dystrophy 24
    MedGen: C5830446 OMIM: 620342 GeneReviews: Not available
    		not available
    Idiopathic CD4 lymphocytopenia
    MedGen: C3809768 OMIM: 615518 GeneReviews: Not available
    		Compare labs

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

    Go to the top of the page Help

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Expression of SH3/SH2 ligand-uncoordinated 119 (UNC119) completely reverses the HIV-1 Nef-mediated inhibition of immunological synapse recruitment of LCK PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipoprotein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipoprotein transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of caveolin-mediated endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of caveolin-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of clathrin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of clathrin-dependent endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phototransduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in intercellular bridge IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in spindle midzone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle midzone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    protein unc-119 homolog A
    Names
    POC7 centriolar protein homolog A
    retinal protein 4
    unc-119 homolog

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012302.1 RefSeqGene

      Range
      5001..10922
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_341

    mRNA and Protein(s)

    1. NM_001330166.2 → NP_001317095.1  protein unc-119 homolog A isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005726, U40998
      Consensus CDS
      CCDS82094.1
      UniProtKB/TrEMBL
      A0A024QZ13, B3KW87, K7EN86
      Related
      ENSP00000466831.1, ENST00000484980.5
      Conserved Domains (1) summary
      pfam05351
      Location:1 → 141
      GMP_PDE_delta; GMP-PDE, delta subunit

    2. NM_005148.4 → NP_005139.1  protein unc-119 homolog A isoform a

      See identical proteins and their annotated locations for NP_005139.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the most abundant transcript, and encodes the full-length isoform (a) of 240 aa.
      Source sequence(s)
      AF028788, BM848267
      Consensus CDS
      CCDS11233.1
      UniProtKB/Swiss-Prot
      A8K8G4, F1T095, O95126, Q13432
      Related
      ENSP00000337040.3, ENST00000335765.9
      Conserved Domains (1) summary
      pfam05351
      Location:81 → 236
      GMP_PDE_delta; GMP-PDE, delta subunit

    3. NM_054035.2 → NP_473376.1  protein unc-119 homolog A isoform b

      See identical proteins and their annotated locations for NP_473376.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional segment in the 3' region compared to transcript variant 1. This results in a shorter isoform (b) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF028789, BM848267, U40998
      Consensus CDS
      CCDS11234.1
      UniProtKB/Swiss-Prot
      Q13432
      Related
      ENSP00000301032.4, ENST00000301032.8
      Conserved Domains (1) summary
      pfam05351
      Location:80 → 203
      GMP_PDE_delta; GMP-PDE, delta subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      28546707..28552628 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525459.3 → XP_011523761.1  protein unc-119 homolog A isoform X1

      Conserved Domains (1) summary
      pfam05351
      Location:80 → 109
      GMP_PDE_delta; GMP-PDE, delta subunit

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      29489330..29495251 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317719.1 → XP_054173694.1  protein unc-119 homolog A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13432.1 GenPept UniProtKB/Swiss-Prot:Q13432

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools