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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. 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

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

Genomics for UNC119 Gene

Regulatory Elements for UNC119 Gene

Enhancers for UNC119 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G028526 1.2 ENCODE dbSUPER 11.9 +24.7 24710 2.3 ATF1 ARNT E2F7 TCF12 ZNF766 CBX5 ELK1 GATA2 NCOA1 MEF2D UNC119 PIGS FOXN1 ENSG00000265205 GC17P028538
GH17G028500 1.1 FANTOM5 ENCODE 12.7 +51.5 51539 0.4 TBP BACH1 MAX EBF1 ZIC2 RELA FOXK2 POLR2A EED ZNF207 UNC119 PIGS SPAG5-AS1 SGK494 SLC46A1 KIAA0100 FOXN1 SPAG5 SEBOX TMEM97
GH17G028355 1.1 ENCODE 9.9 +195.4 195383 2.8 HNRNPUL1 PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SARM1 PHF12 SLC46A1 TMEM199 UNC119 PIGS VTN TRAF4 PIR62966
GH17G028863 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.2 -312.7 -312669 3.3 HDGF CREB3L1 ARNT ARID4B ZNF766 CBX5 FOS KLF13 JUNB REST DHRS13 PROCA1 FLOT2 TLCD1 NEK8 SNORD42A SNORD4B SNORD42B RAB34 RPL23A
GH17G028494 0.8 ENCODE 11.7 +57.8 57781 0.2 CTCF RB1 WRNIP1 EBF1 ZNF2 HBP1 RAD21 RELA CTBP1 ZBTB48 UNC119 PIGS SPAG5-AS1 SGK494 SLC46A1 FOXN1 SLC13A2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UNC119 on UCSC Golden Path with GeneCards custom track

Promoters for UNC119 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092740 268 801 AGO1 SIN3A GLI4 ZNF48 GLIS2 SP3 SP5 REST ZNF610 ZSCAN16

Genomic Location for UNC119 Gene

Chromosome:
17
Start:
28,546,707 bp from pter
End:
28,552,668 bp from pter
Size:
5,962 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UNC119 Gene

Domains & Families for UNC119 Gene

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

No data available for Gene Families for UNC119 Gene

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.

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 IDA,IEA 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

CRISPR Products

miRNA for UNC119 Gene

miRTarBase miRNAs that target UNC119

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for UNC119 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole 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

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:0006810 transport IEA --
GO:0006897 endocytosis IEA --
GO:0007268 chemical synaptic transmission TAS 9538874
GO:0007601 visual perception IEA --
GO:0007602 phototransduction TAS 9538874
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

Transcripts for UNC119 Gene

Unigene Clusters for UNC119 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Primer Products

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 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia UNC119 34 35
  • 93.61 (n)
dog
(Canis familiaris)
Mammalia UNC119 34 35
  • 91.39 (n)
mouse
(Mus musculus)
Mammalia Unc119 34 16 35
  • 90.42 (n)
rat
(Rattus norvegicus)
Mammalia Unc119 34
  • 89.86 (n)
oppossum
(Monodelphis domestica)
Mammalia UNC119 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UNC119 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves UNC119 34 35
  • 77.9 (n)
lizard
(Anolis carolinensis)
Reptilia UNC119 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia unc119 34
  • 72.11 (n)
Str.3939 34
zebrafish
(Danio rerio)
Actinopterygii unc119a 35
  • 73 (a)
OneToMany
unc119b 34 35
  • 72.79 (n)
Dr.12612 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9775 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011708 34
  • 65.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta unc-119 36 34 35
  • 61.93 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-119 36 35
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11065 35
  • 54 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1130 34
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 Sequence Context AA Info Type
rs199714731 Pathogenic, Immunodeficiency 13 (IMD13) [MIM:615518] 28,552,493(+) TCTGG(A/C)CCGAG reference, missense, utr-variant-5-prime
rs267607166 Pathogenic 28,552,389(-) AGAGG(A/T)AGCAG reference, stop-gained, utr-variant-5-prime
rs139354163 Likely benign 28,547,357(+) TCCAC(A/G)AAGTA downstream-variant-500B, reference, synonymous-codon, utr-variant-3-prime
rs145710399 Likely benign 28,548,659(+) AACCT(C/G)ACAAA reference, synonymous-codon, utr-variant-5-prime
rs147732652 Likely benign 28,548,692(+) TCAGG(A/C/G)GAGCA reference, synonymous-codon, utr-variant-5-prime

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 13
  • idiopathic cd4 lymphocytopenia
cone-rod dystrophy
  • retinitis pigmentosa 2
retinitis pigmentosa
  • retinitis pigmentosa 1
cone-rod dystrophy, unc119-related
  • unc119-related cord
acute retinal necrosis syndrome
  • acute retinal necrosis
- 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}.

Relevant External Links for UNC119

Genetic Association Database (GAD)
UNC119
Human Genome Epidemiology (HuGE) Navigator
UNC119
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UNC119
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 M.M. … Alam R. (J. Exp. Med. 2004) 3 4 22 64
  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 64
  3. Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors. (PMID: 9761287) Swanson D.A. … Valle D. (Invest. Ophthalmol. Vis. Sci. 1998) 3 4 22 64
  4. Cloning of the cDNA for a novel photoreceptor protein. (PMID: 8576185) Higashide T. … Inana G. (J. Biol. Chem. 1996) 2 3 4 64
  5. UNC119a bridges the transmission of Fyn signals to Rab11, leading to the completion of cytokinesis. (PMID: 23535298) Lee Y. … Lee J. (Cell Cycle 2013) 3 4 64

Products for UNC119 Gene

Sources for UNC119 Gene

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