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

Summary

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
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12447 (e-PCR)
- UniSTS:90133

D17S2156 (e-PCR)
- UniSTS:15209

G20535 (e-PCR)
- UniSTS:75973

RH17002 (e-PCR)
- UniSTS:92107

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

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Preferred Names: protein unc-119 homolog A

Names: POC7 centriolar protein homolog A; retinal protein 4; unc-119 homolog

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.

Genomic

NG_012302.1 RefSeqGene

Range

5001..10922

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_341

mRNA and Protein(s)

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
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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

28546707..28552628 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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