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

Gene ID: 22248, updated on 11-Apr-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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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
  • 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. 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
  2. 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
  3. 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
  4. 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
  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 (37) 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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within 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 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 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
  
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within response to stimulus IEA
Inferred from Electronic Annotation
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton 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
  
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
  
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
  

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

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