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Aliases for UNC119 Gene

Aliases for UNC119 Gene

  • Unc-119 Lipid Binding Chaperone 2 3 5
  • Retinal Protein 4 3 4
  • HRG4 3 4
  • POC7 Centriolar Protein Homolog A (Chlamydomonas) 2
  • POC7 Centriolar Protein Homolog A 3
  • Unc-119 Homolog (C. Elegans) 2
  • Unc119 (C.Elegans) Homolog 2
  • Protein Unc-119 Homolog A 3
  • Unc-119 Homolog 3
  • IMD13 3
  • POC7A 3
  • POC7 3
  • RG4 4

External Ids for UNC119 Gene

Previous GeneCards Identifiers for UNC119 Gene

  • GC17M026718
  • GC17M028773
  • GC17M027019
  • GC17M023897
  • GC17M026873
  • GC17M023082

Summaries for UNC119 Gene

Entrez Gene Summary for UNC119 Gene

  • 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]

GeneCards Summary for UNC119 Gene

UNC119 (Unc-119 Lipid Binding Chaperone) is a Protein Coding gene. Diseases associated with UNC119 include Immunodeficiency 13 and Cone-Rod Dystrophy 2. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is UNC119B.

UniProtKB/Swiss-Prot for UNC119 Gene

  • Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A.

Gene Wiki entry for UNC119 Gene

Additional gene information for UNC119 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC119 Gene

Genomics for UNC119 Gene

GeneHancer (GH) Regulatory Elements for UNC119 Gene

Promoters and enhancers for UNC119 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I028546 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 557.9 +2.3 2258 7.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A GLI4 ZNF48 YY1 POLR2B GLIS2 UNC119 PIGS ENSG00000264577 NUFIP2 LOC101927018 PHF12 ENSG00000265205 SDF2 FOXN1 SUPT6H
GH17I028355 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 +195.4 195382 2.8 PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 ZNF143 SP3 TMEM199 ENSG00000258924 POLDIP2 SUPT6H SARM1 ITM2BP1 PHF12 SLC46A1 NUFIP2 UNC119
GH17I028576 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 7.2 -24.5 -24534 1.6 HDGF FOXA2 PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ALDOC SUPT6H ENSG00000264577 PHF12 NUFIP2 TMEM199 SDF2 SPAG5-AS1 SGK494 RPL23A
GH17I028526 Enhancer 1.1 ENCODE dbSUPER 11.9 +24.7 24709 2.3 ATF1 ARNT NCOA2 TCF12 ZNF766 CBX5 GATA2 E2F8 ATF7 NCOA1 UNC119 PIGS FOXN1 ENSG00000265205 GC17P028538 ENSG00000258472
GH17I028500 Enhancer 0.9 FANTOM5 ENCODE 12.7 +51.5 51538 0.4 BACH1 MAX EBF1 ZIC2 RELA FOXK2 POLR2A ZNF207 ZNF687 NR2F1 UNC119 PIGS SPAG5-AS1 SGK494 SLC46A1 KIAA0100 FOXN1 SPAG5 SEBOX TMEM97
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UNC119 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UNC119 gene promoter:

Genomic Locations for UNC119 Gene

Genomic Locations for UNC119 Gene
chr17:28,546,707-28,552,668
(GRCh38/hg38)
Size:
5,962 bases
Orientation:
Minus strand
chr17:26,873,725-26,879,686
(GRCh37/hg19)

Genomic View for UNC119 Gene

Genes around UNC119 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC119 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNC119 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC119 Gene

Proteins for UNC119 Gene

  • Protein details for UNC119 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13432-U119A_HUMAN
    Recommended name:
    Protein unc-119 homolog A
    Protein Accession:
    Q13432
    Secondary Accessions:
    • A8K8G4
    • F1T095
    • O95126

    Protein attributes for UNC119 Gene

    Size:
    240 amino acids
    Molecular mass:
    26962 Da
    Quaternary structure:
    • Interacts with CABP4; in the absence of calcium (By similarity). Interacts with DNM1; leading to a decrease of DNM1 GTPase activity (By similarity). May interact with GTP-bound ARL1. Interacts with ARL2 and ARL3 (GTP-bound forms); this promotes the release of myyristoylated cargo proteins (PubMed:22960633). Found in a complex with ARL3, RP2 and UNC119; RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119. Interacts with NPHP3 (when myristoylated). Interacts with CYS1 (when myristoylated). Interacts with C5orf30; interaction only takes place when UNC119 is not liganded with myristoylated proteins. Interacts with LCK; this interaction plays a crucial role in activation of LCK. Interacts with FYN. Interacts with RAB11A; in a cell cycle-dependent manner. Interacts with LYN (via SH2 and SH3 domains); leading to LYN activation. Found in a complex with ABL1, ABL2, CRK and UNC119; leading to the inhibition of CRK phosphorylation by ABL kinases. Interacts with CD44; leading to Shigella invasion.

    Three dimensional structures from OCA and Proteopedia for UNC119 Gene

    Alternative splice isoforms for UNC119 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UNC119 Gene

Post-translational modifications for UNC119 Gene

No Post-translational modifications

No data available for DME Specific Peptides for UNC119 Gene

Domains & Families for UNC119 Gene

Gene Families for UNC119 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for UNC119 Gene

Suggested Antigen Peptide Sequences for UNC119 Gene

Graphical View of Domain Structure for InterPro Entry

Q13432

UniProtKB/Swiss-Prot:

U119A_HUMAN :
  • Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that captures N-terminally myristoylated target peptides (PubMed:21642972). Phe residues within the hydrophobic beta sandwich are required for myristate binding (PubMed:22085962).
  • Belongs to the PDE6D/unc-119 family.
Domain:
  • Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that captures N-terminally myristoylated target peptides (PubMed:21642972). Phe residues within the hydrophobic beta sandwich are required for myristate binding (PubMed:22085962).
Family:
  • Belongs to the PDE6D/unc-119 family.
genes like me logo Genes that share domains with UNC119: view

Function for UNC119 Gene

Molecular function for UNC119 Gene

GENATLAS Biochemistry:
C elegans Unc119 and rat retinal gene 4 homolog,retina specific,involved in photoreceptor neurotransmission,expressed in the specialized ribbon synapses formed between photoreceptors and the horizontal and bipolar cells of the retina
UniProtKB/Swiss-Prot Function:
Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A.

Phenotypes From GWAS Catalog for UNC119 Gene

Gene Ontology (GO) - Molecular Function for UNC119 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14757743
GO:0008289 lipid binding IEA,IDA 21642972
genes like me logo Genes that share ontologies with UNC119: view
genes like me logo Genes that share phenotypes with UNC119: view

Human Phenotype Ontology for UNC119 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UNC119 Gene

MGI Knock Outs for UNC119:

Animal Model Products

miRNA for UNC119 Gene

miRTarBase miRNAs that target UNC119

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for UNC119 Gene

Localization for UNC119 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC119 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, spindle. Note=Localizes to the centrosome in interphase cells and begins to translocate from the spindle pole to the spindle midzone after the onset of mitosis; it then localizes to the intercellular bridge in telophase cells and to the midbody in cytokinetic cells. {ECO:0000269 PubMed:23535298}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UNC119 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 2
plasma membrane 1
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for UNC119 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA,IDA 23535298
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 22085962
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with UNC119: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UNC119 Gene

Pathways & Interactions for UNC119 Gene

SuperPathways for UNC119 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UNC119 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 23535298
GO:0006810 transport IEA --
GO:0006897 endocytosis IEA --
GO:0007268 chemical synaptic transmission TAS 9538874
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with UNC119: view

No data available for Pathways by source and SIGNOR curated interactions for UNC119 Gene

Drugs & Compounds for UNC119 Gene

No Compound Related Data Available

Transcripts for UNC119 Gene

Unigene Clusters for UNC119 Gene

Unc-119 homolog (C. elegans):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UNC119 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5:
SP6:
SP7: -
SP8: -

Relevant External Links for UNC119 Gene

GeneLoc Exon Structure for
UNC119
ECgene alternative splicing isoforms for
UNC119

Expression for UNC119 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UNC119 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UNC119 Gene

This gene is overexpressed in Whole Blood (x6.6).

Protein differential expression in normal tissues from HIPED for UNC119 Gene

This gene is overexpressed in Retina (57.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UNC119 Gene



Protein tissue co-expression partners for UNC119 Gene

NURSA nuclear receptor signaling pathways regulating expression of UNC119 Gene:

UNC119

SOURCE GeneReport for Unigene cluster for UNC119 Gene:

Hs.410455

mRNA Expression by UniProt/SwissProt for UNC119 Gene:

Q13432-U119A_HUMAN
Tissue specificity: Abundantly expressed in retina, in photoreceptor synapses and inner segments. Expressed in a much lesser extent in several other tissues.

Evidence on tissue expression from TISSUES for UNC119 Gene

  • Eye(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UNC119 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • middle ear
  • pituitary gland
  • sinus
  • skull
Thorax:
  • breast
  • bronchus
  • lung
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with UNC119: view

Orthologs for UNC119 Gene

This gene was present in the common ancestor of animals.

Orthologs for UNC119 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UNC119 33 34
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia UNC119 33 34
  • 93.61 (n)
dog
(Canis familiaris)
Mammalia UNC119 33 34
  • 91.39 (n)
mouse
(Mus musculus)
Mammalia Unc119 33 16 34
  • 90.42 (n)
rat
(Rattus norvegicus)
Mammalia Unc119 33
  • 89.86 (n)
oppossum
(Monodelphis domestica)
Mammalia UNC119 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UNC119 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves UNC119 33 34
  • 77.9 (n)
lizard
(Anolis carolinensis)
Reptilia UNC119 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia unc119 33
  • 72.11 (n)
Str.3939 33
zebrafish
(Danio rerio)
Actinopterygii unc119a 34
  • 73 (a)
OneToMany
unc119b 33 34
  • 72.79 (n)
Dr.12612 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9775 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011708 33
  • 65.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta unc-119 35 33 34
  • 61.93 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-119 35 34
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11065 34
  • 54 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1130 33
Species where no ortholog for UNC119 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UNC119 Gene

ENSEMBL:
Gene Tree for UNC119 (if available)
TreeFam:
Gene Tree for UNC119 (if available)

Paralogs for UNC119 Gene

Paralogs for UNC119 Gene

(2) SIMAP similar genes for UNC119 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with UNC119: view

Variants for UNC119 Gene

Sequence variations from dbSNP and Humsavar for UNC119 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1001134817 uncertain-significance, Cone-Rod Dystrophy, Dominant 28,547,032(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1039495886 uncertain-significance, Cone-Rod Dystrophy, Dominant 28,552,595(-) G/A/C 5_prime_UTR_variant
rs139354163 likely-benign, Cone-Rod Dystrophy, Dominant 28,547,357(-) G/A 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, synonymous_variant
rs145710399 likely-benign, Cone-Rod Dystrophy, Dominant 28,548,659(-) G/C 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs146916036 uncertain-significance, Cone-Rod Dystrophy, Dominant 28,547,785(-) G/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for UNC119 Gene

Variant ID Type Subtype PubMed ID
nsv1064087 CNV gain 25217958
nsv1064958 CNV loss 25217958

Variation tolerance for UNC119 Gene

Residual Variation Intolerance Score: 59.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UNC119 Gene

Human Gene Mutation Database (HGMD)
UNC119
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC119

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC119 Gene

Disorders for UNC119 Gene

MalaCards: The human disease database

(10) MalaCards diseases for UNC119 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 13
  • imd13
cone-rod dystrophy 2
  • cord2
leber congenital amaurosis 4
  • cone-rod dystrophy
retinitis pigmentosa
  • rp
fungal meningitis
  • meningitis, fungal
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

U119A_HUMAN
  • Immunodeficiency 13 (IMD13) [MIM:615518]: A rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy. {ECO:0000269 PubMed:22184408}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in UNC119 may be a cause of cone-rod dystrophy. A mutation was found in a 57-year-old woman with late-onset cone-rod dystrophy: from 40 year old, the patient suffered from poor night vision, defective color vision and light-sensitivity. At 57 year old, she displayed reduced visual acuity, myopa, macular atrophy and pericentral ring scotomas. The disease was caused by a heterozygous mutation causing premature termination and truncated UNC119 protein with dominant-negative effect. {ECO:0000269 PubMed:11006213}.

Additional Disease Information for UNC119

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UNC119: view

No data available for Genatlas for UNC119 Gene

Publications for UNC119 Gene

  1. Unc119, a novel activator of Lck/Fyn, is essential for T cell activation. (PMID: 14757743) Gorska MM … Alam R (The Journal of experimental medicine 2004) 3 4 22 58
  2. Characterization of the gene for HRG4 (UNC119), a novel photoreceptor synaptic protein homologous to unc-119. (PMID: 10329014) Higashide T … Inana G (Genomics 1999) 3 4 22 58
  3. Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors. (PMID: 9761287) Swanson DA … Valle D (Investigative ophthalmology & visual science 1998) 3 4 22 58
  4. Cloning of the cDNA for a novel photoreceptor protein. (PMID: 8576185) Higashide T … Inana G (The Journal of biological chemistry 1996) 2 3 4 58
  5. UNC119a bridges the transmission of Fyn signals to Rab11, leading to the completion of cytokinesis. (PMID: 23535298) Lee Y … Lee J (Cell cycle (Georgetown, Tex.) 2013) 3 4 58

Products for UNC119 Gene

Sources for UNC119 Gene

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