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

Summary

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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Novel Role for UNC119 as an Enhancer of Synaptic Transmission.
Title: A Novel Role for UNC119 as an Enhancer of Synaptic Transmission.
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.
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.
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.
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.
Unc119 is a receptor-associated activator of Src-type kinases.
Title: Unc119, a novel activator of Lck/Fyn, is essential for T cell activation.
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.
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.

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Variation

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Alleles

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

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236658

RH129323 (e-PCR)
- UniSTS:212630

D11Seg21 (e-PCR), detects polymorphism
- UniSTS:141795

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	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)

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
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
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
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
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