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    Unc119 unc-119 lipid binding chaperone [ Mus musculus (house mouse) ]

    Gene ID: 22248, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Unc119provided by MGI
    Official Full Name
    unc-119 lipid binding chaperoneprovided by MGI
    Primary source
    MGI:MGI:1328357
    See related
    Ensembl:ENSMUSG00000002058 AllianceGenome:MGI:1328357
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Rg4; HRG4; MRG4; Rtg4; Unc119h; D11Bhm52
    Summary
    The protein encoded by this gene is multifunctional, affecting trafficking of transducin in rod photoreceptors, interacting with src-type tyrosine kinases through SH2 and SH3 interacting domains, and aiding the uptake of bacteria through endocytosis. In addition, the encoded protein acts as a lipid-binding chaperone to help localize some myristoylated proteins correctly. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 56.2), ovary adult (RPKM 38.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Unc119 in Genome Data Viewer
    Location:
    11 B5; 11 46.74 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (78234321..78239990)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (78343495..78349164)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E906 Neighboring gene aldolase C, fructose-bisphosphate Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class S Neighboring gene STARR-positive B cell enhancer mm9_chr11:78173491-78173792 Neighboring gene forkhead box N1 Neighboring gene predicted gene, 30367 Neighboring gene solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2, opposite strand Neighboring gene solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. Kobayashi A, et al. Invest Ophthalmol Vis Sci, 2000 Oct. PMID 11006213
    2. Changes in retinal synaptic proteins in the transgenic model expressing a mutant HRG4 (UNC119). Kubota S, et al. Invest Ophthalmol Vis Sci, 2002 Feb. PMID 11818371
    3. Truncation mutation in HRG4 (UNC119) leads to mitochondrial ANT-1-mediated photoreceptor synaptic and retinal degeneration by apoptosis. Mori N, et al. Invest Ophthalmol Vis Sci, 2006 Apr. PMID 16565359
    4. Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function. Ishiba Y, et al. Exp Eye Res, 2007 Mar. PMID 17174953, Free PMC Article
    5. A Novel Role for UNC119 as an Enhancer of Synaptic Transmission. Fehlhaber KE, et al. Int J Mol Sci, 2023 Apr 30. PMID 37175812, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Novel Role for UNC119 as an Enhancer of Synaptic Transmission.
      Title: A Novel Role for UNC119 as an Enhancer of Synaptic Transmission.
    2. Knockout of Unc119 partially reversed the transport defect of GRK1 in cone photoreceptors caused by deletion of Pde6d.
      Title: Unc119 gene deletion partially rescues the GRK1 transport defect of Pde6d (- /-) cones.
    3. Unc119 has a critical role in the development of airway inflammation, mucus production, and bronchial hyperreactivity in a mouse model of experimental asthma.
      Title: Uncoordinated 119 preferentially induces Th2 differentiation and promotes the development of asthma.
    4. Unc119 orchestrates the recruitment of the actin-based motor protein, myosin 5B, and the organization of multiprotein complexes on endosomes. The Unc119-regulated pathway is essential for immunological synapse formation and T cell activation.
      Title: Uncoordinated 119 protein controls trafficking of Lck via the Rab11 endosome and is critical for immunological synapse formation.
    5. This study provides evidence for the interaction of CaBP4 with Unc119 at the photoreceptor synapse.
      Title: Interaction and colocalization of CaBP4 and Unc119 (MRG4) in photoreceptors.
    6. Unc119 is a receptor-associated activator of Src-type kinases.
      Title: Unc119, a novel activator of Lck/Fyn, is essential for T cell activation.
    7. Unc119 plays an important role in fibrotic processes through myofibroblast differentiation; Unc119 increases the kinase activity of Fyn and associates with it in coprecipitation and colocalization studies.
      Title: Unc119 regulates myofibroblast differentiation through the activation of Fyn and the p38 MAPK pathway.
    8. The results support a novel mechanism of retinal degeneration in which preapoptotic degeneration starts in the photoreceptor synapse because of a deficiency in ANT-1 and spreads to the secondary neuron transsynaptically, followed by apoptosis.
      Title: Truncation mutation in HRG4 (UNC119) leads to mitochondrial ANT-1-mediated photoreceptor synaptic and retinal degeneration by apoptosis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables lipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipoprotein transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cytokinesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic cytokinesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein tyrosine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intercellular bridge IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intercellular bridge ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intercellular bridge ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in spindle midzone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle midzone ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in spindle midzone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle pole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in spindle pole ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein unc-119 homolog A
    Names
    retinal gene 4
    retinal protein 4

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001313985.1 → NP_001300914.1  protein unc-119 homolog A isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI048478, AK131955, AL591070, BE950651, BY772605
      Consensus CDS
      CCDS83853.1
      UniProtKB/TrEMBL
      B1AQD9
      Related
      ENSMUSP00000103930.2, ENSMUST00000108295.8
      Conserved Domains (1) summary
      pfam05351
      Location:80 → 258
      GMP_PDE_delta; GMP-PDE, delta subunit

    2. NM_001313986.1 → NP_001300915.1  protein unc-119 homolog A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate exon in place of the first exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI048478, AL591070, BE950651, CO427483
      Conserved Domains (1) summary
      pfam05351
      Location:15 → 193
      GMP_PDE_delta; GMP-PDE, delta subunit

    3. NM_001313987.1 → NP_001300916.1  protein unc-119 homolog A isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate exon in place of the first exon and uses an alternate in-frame splice junction in the 3' end compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AK131955, AL591070, BE950651, CO427483
      Consensus CDS
      CCDS83854.1
      UniProtKB/TrEMBL
      B1AQD7
      Related
      ENSMUSP00000098318.4, ENSMUST00000100755.4
      Conserved Domains (1) summary
      pfam05351
      Location:15 → 171
      GMP_PDE_delta; GMP-PDE, delta subunit

    4. NM_001313988.1 → NP_001300917.1  protein unc-119 homolog A isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate exon in place of the first exon and uses an alternate in-frame splice junction in the 3' end compared to variant 1. The resulting isoform (5) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AK131955, BE950651, CK621068
      UniProtKB/TrEMBL
      Q3V299
      Conserved Domains (1) summary
      pfam05351
      Location:1 → 141
      GMP_PDE_delta; GMP-PDE, delta subunit

    5. NM_011676.3 → NP_035806.1  protein unc-119 homolog A isoform 2

      See identical proteins and their annotated locations for NP_035806.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK131955, BE950651, BY772605
      Consensus CDS
      CCDS25101.1
      UniProtKB/Swiss-Prot
      Q9Z2R6
      UniProtKB/TrEMBL
      Q3V299
      Related
      ENSMUSP00000002127.8, ENSMUST00000002127.14
      Conserved Domains (1) summary
      pfam05351
      Location:80 → 236
      GMP_PDE_delta; GMP-PDE, delta subunit

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      78234321..78239990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z2R6.1 GenPept UniProtKB/Swiss-Prot:Q9Z2R6

    Gene LinkOut

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

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