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UNC119 Gene

protein-coding   GIFtS: 62
GCID: GC17M026873

Unc-119 Homolog (C. Elegans)

(Previous name: unc119 (C.elegans) homolog)
  See UNC119-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Unc-119 Homolog (C. Elegans)1 2     POC72
Retinal Protein 42 3     POC7A2
HRG42 5     POC7 Centriolar Protein Homolog A2
IMD132 5     Protein Unc-119 Homolog A2
POC7 Centriolar Protein Homolog A (Chlamydomonas)1     RG43
Unc119 (C.Elegans) Homolog1     hRG43

External Ids:    HGNC: 125651   Entrez Gene: 90942   Ensembl: ENSG000001091037   OMIM: 6040115   UniProtKB: Q134323   

Export aliases for UNC119 gene to outside databases

Previous GC identifers: GC17M026718 GC17M028773 GC17M027019 GC17M023897 GC17M023082


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 homolog (C. elegans)) is a protein-coding gene. Diseases associated with UNC119 include partial central choroid dystrophy, and immunodeficiency 13. GO annotations related to this gene include lipid binding. An important paralog of this gene is UNC119B.

UniProtKB/Swiss-Prot: U119A_HUMAN, Q13432
Function: Myristoyl-binding protein that acts as a cargo adapter: 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. Binds myristoylated NPHP3;
however, in contrast to UNC119B, does not seem to play a major role in ciliary membrane localization of NPHP3.
Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells

Gene Wiki entry for UNC119 (Protein unc-119 homolog) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the UNC119 gene promoter:
         GR   RFX1   NF-1   ATF-2   RORalpha1   FOXO4   GR-alpha   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUNC119 promoter sequence
   Search Chromatin IP Primers for UNC119

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UNC119


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

UNC119 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UNC119 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M026873:  view genomic region     (about GC identifiers)

Start:
26,873,725 bp from pter      End:
26,879,686 bp from pter
Size:
5,962 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: U119A_HUMAN, Q13432 (See protein sequence)
Recommended Name: Protein unc-119 homolog A  
Size: 240 amino acids; 26962 Da
Subunit: Interacts with CABP4; in the absence of calcium. May interact with ARL1, ARL2 and ARL3 GTP-bound forms.
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
Caution: According to some authors, acts by extracting target proteins from membranes (PubMed:21642972). According
to a another report, rather acts by targeting proteins to membranes (PubMed:22085962)
4 PDB 3D structures from and Proteopedia for UNC119:
3GQQ (3D)        3RBQ (3D)        4GOJ (3D)        4GOK (3D)    
Secondary accessions: A8K8G4 F1T095 O95126
Alternative splicing: 2 isoforms:  Q13432-1   Q13432-2   

Explore the universe of human proteins at neXtProt for UNC119: NX_Q13432

Explore proteomics data for UNC119 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UNC119 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005139.1  NP_473376.1  

    ENSEMBL proteins: 
     ENSP00000337040   ENSP00000466831   ENSP00000301032   ENSP00000465323   ENSP00000463893  
     ENSP00000414639  

    UNC119 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR008015 GMP_PDE_delta

    Graphical View of Domain Structure for InterPro Entry Q13432

    ProtoNet protein and cluster: Q13432

    1 Blocks protein domain: IPB008015 GMP-PDE

    UniProtKB/Swiss-Prot: U119A_HUMAN, Q13432
    Domain: Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that capture N-terminally
    myristoylated target peptides (PubMed:21642972). Phe residues within the hydrophobic beta sandwich are required
    for myristate binding (PubMed:22085962)
    Similarity: Belongs to the PDE6D/unc-119 family


    Find genes that share domains with UNC119           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: U119A_HUMAN, Q13432
    Function: Myristoyl-binding protein that acts as a cargo adapter: 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. Binds myristoylated NPHP3;
    however, in contrast to UNC119B, does not seem to play a major role in ciliary membrane localization of NPHP3.
    Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells

         Genatlas biochemistry entry for UNC119:
    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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14757743
    GO:0008289lipid binding IDA--
         
    Find genes that share ontologies with UNC119           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for UNC119:
     Increased circadian period len 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Unc119):
     pigmentation  vision/eye 

    Find genes that share phenotypes with UNC119           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Unc119tm1Gina for UNC119

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UNC119
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UNC119
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UNC119

    miRNA
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    miRTarBase miRNAs that target UNC119:
    hsa-mir-7-5p (MIRT047759)

    Block miRNA regulation of human, mouse, rat UNC119 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate UNC119:
    hsa-miR-1266 hsa-miR-4268 hsa-miR-4297 hsa-miR-570 hsa-miR-3667-3p hsa-miR-582-5p hsa-miR-2276 hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidUNC119 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UNC119

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC119


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    U119A_HUMAN, Q13432: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA--
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS9538874
    GO:0045171intercellular bridge IDA--
    GO:0051233spindle midzone IDA--

    Find genes that share ontologies with UNC119           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for UNC119 About    
    See pathways by source

    SuperPathContained pathways About
    1IL-5 Signaling Pathway
    IL-5 Signaling Pathway


    1 BioSystems Pathway for UNC119
        IL-5 Signaling Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UNC119
    Interactions:

        GeneGlobe Interaction Network for UNC119

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for UNC119 (Q134321, 2, 3 ENSP000003370404) via UniProtKB, MINT, STRING, and/or I2D (see all 153)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000223666Q9UIM32, 3MINT-65750 I2D: score=5 
    ENSG00000224200Q9UIM32, 3MINT-65750 I2D: score=5 
    ENSG00000230907Q9UIM32, 3MINT-65750 I2D: score=5 
    FKBPLQ9UIM32, 3MINT-65750 I2D: score=5 
    SMN2Q166372, 3, ENSP000003701194MINT-64289 MINT-8271652 I2D: score=5 STRING: ENSP00000370119
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007109cytokinesis, completion of separation IMP--
    GO:0007268synaptic transmission TAS9538874
    GO:0007601visual perception IEA--
    GO:0007602phototransduction TAS9538874
    GO:0042953lipoprotein transport IDA--

    Find genes that share ontologies with UNC119           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UNC119 (U119A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UNC119 gene (2 alternative transcripts): 
    NM_005148.3  NM_054035.2  

    Unigene Cluster for UNC119:

    Unc-119 homolog (C. elegans)
    Hs.410455  [show with all ESTs]
    Unigene Representative Sequence: BX648530
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335765(uc002hbk.2) ENST00000484980 ENST00000301032(uc002hbm.2)
    ENST00000470125 ENST00000581945 ENST00000444148 ENST00000487844 ENST00000578434

    miRNA
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    Block miRNA regulation of human, mouse, rat UNC119 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate UNC119:
    hsa-miR-1266 hsa-miR-4268 hsa-miR-4297 hsa-miR-570 hsa-miR-3667-3p hsa-miR-582-5p hsa-miR-2276 hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidUNC119 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): UNC119 (NM_054035)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNC119
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNC119
      QuantiTect SYBR Green Assays in human, mouse, rat UNC119
      QuantiFast Probe-based Assays in human, mouse, rat UNC119

    Additional mRNA sequence: 

    AB593014.1 AF028788.1 AF028789.1 AK292329.1 BC027176.1 BX647747.1 BX648530.1 U40998.1 

    6 DOTS entries:

    DT.317830  DT.86843149  DT.91982563  DT.101983013  DT.100861319  DT.95195620 

    Selected AceView cDNA sequences (see all 240):

    CK821275 BM694436 BQ636454 AI239478 BI835913 BU956223 BM704497 BM314171 
    BQ228270 BX647747 AA918098 BM853571 AA330011 BQ635865 BX648530 CB243961 
    NM_054035 AI264955 BQ639071 BQ638180 AI862168 BM846432 BM663379 CB133400 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UNC119 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for UNC119

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UNC119 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAGGAGCTG
    UNC119 Expression
    About this image


    UNC119 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    UNC119 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UNC119 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.410455

    UniProtKB/Swiss-Prot: U119A_HUMAN, Q13432
    Tissue specificity: Retinal-specific. Localized in photoreceptor synapses in the outer plexiform layer of the
    retina

        Custom PCR Arrays for UNC119
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    QuantiFast Probe-based Assays in human, mouse, rat UNC119
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC119

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for UNC119 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Unc1191 , 5 unc-119 homolog (C. elegans)1, 5 90.42(n)1
    91.67(a)1
      11 (46.74 cM)5
    222481  NM_011676.21  NP_035806.11 
     783434825 
    chicken
    (Gallus gallus)
    Aves UNC1191 unc-119 homolog (C. elegans) 77.9(n)
    83.42(a)
      771690  XM_001234936.2  XP_001234937.1 
    lizard
    (Anolis carolinensis)
    Reptilia UNC1196
    unc-119 homolog (C. elegans)
    68(a)
    1 ↔ 1
    GL343470.1(467441-481096)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX847066.12   -- 76.19(n)    BX847066.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.126122 Danio rerio Unc119b (unc119b) mRNA, complete cds 77.12(n)    AF387341.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-1191 , 3 unc-1191 61(a)3
    61.93(n)1
    64.74(a)1
      7B13
    316641  NM_132161.41  NP_572389.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1193 Expression: neurons 51(a)   III(10978117-10980401)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UNC119 gene
    UNC119B2  
    2 SIMAP similar genes for UNC119 using alignment to 5 protein entries:     U119A_HUMAN (see all proteins):
    DKFZp686E1393    UNC119B

    Find genes that share paralogs with UNC119           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UNC119 (see all 184)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1134021241,2
    C,F--26931710(+) CCCCAG/AGGCAG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1446644511,2
    --26931763(+) CCACCA/GTCTAT 2 -- int10--------
    rs1856256761,2
    --26931829(+) GGTAGC/TGTGGA 2 -- int10--------
    rs728461881,2
    C--26931854(+) CCCCAC/TCCCCC 2 -- int10--------
    rs577785901,2
    C,F--26931859(+) CCCCCC/AACACC 2 -- int12Minor allele frequency- A:0.03WA 120
    rs732785451,2
    C,F--26932409(+) GGGCAG/CGGGAC 2 -- ut311Minor allele frequency- C:0.50WA 2
    rs800007151,2
    C--26932545(+) TAGACA/GTGGAG 2 -- ut310--------
    rs1901367551,2
    --26932612(+) CTTGAC/TTGGGG 2 -- ut310--------
    rs1827876811,2
    --26932657(+) GGTCCA/GGAGCT 2 -- ut310--------
    rs18020941,2
    C,F--26932699(-) CACCCC/TTCAAC 2 -- ut312Minor allele frequency- T:0.10WA 120

    HapMap Linkage Disequilibrium report for UNC119 (26873725 - 26879686 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for UNC119: --
    Human Gene Mutation Database (HGMD): UNC119
    Locus Specific Mutation Databases (LSDB): UNC119

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UNC119
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604011   
    OMIM disorders: 615518  
    UniProtKB/Swiss-Prot: U119A_HUMAN, Q13432
  • 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

  • 5 diseases for UNC119:    
    About MalaCards
    partial central choroid dystrophy    immunodeficiency 13    unc119-related cone-rod dystrophy    retinitis pigmentosa
    cone-rod dystrophy 2

    1 disease from the University of Copenhagen DISEASES database for UNC119:
    Partial central choroid dystrophy

    Find genes that share disorders with UNC119           About GenesLikeMe

    2 Novoseek inferred disease relationships for UNC119 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cone-rod dystrophy 82.6 2 17174953 (1)
    retinal degeneration 61 6 17174953 (2), 12527357 (1)

    Genetic Association Database (GAD): UNC119
    Human Genome Epidemiology (HuGE) Navigator: UNC119 (1 document)

    Export disorders for UNC119 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UNC119 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with UNC119)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the cDNA for a novel photoreceptor protein. (PubMed id 8576185)1, 2, 3 Higashide T.... Inana G. (J. Biol. Chem. 1996)
    2. Characterization of the gene for HRG4 (UNC119), a novel photoreceptor synaptic protein homologous to unc-119. (PubMed id 10329014)1, 2, 9 Higashide T. and Inana G. (Genomics 1999)
    3. Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors. (PubMed id 9761287)1, 2, 9 Swanson D.A.... Valle D. (Invest. Ophthalmol. Vis. Sci. 1998)
    4. UNC119 is required for G protein trafficking in sensory neurons. (PubMed id 21642972)1, 2 Zhang H.... Baehr W. (Nat. Neurosci. 2011)
    5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1, 2 Oshikawa M.... Kato S. (Invest. Ophthalmol. Vis. Sci. 2011)
    6. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. ADP-ribosylation factors (ARFs) and ARF-like 1 (ARL1) have both specific and shared effectors: characterizing ARL1-binding proteins. (PubMed id 11303027)1, 2 Van Valkenburgh H.... Kahn R.A. (J. Biol. Chem. 2001)
    10. Localization of HRG4, a photoreceptor protein homologous to Unc-119, in ribbon synapse. (PubMed id 9538874)1, 3 Higashide T....Inana G. (amp 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9094 HGNC: 12565 AceView: UNC119 Ensembl:ENSG00000109103 euGenes: HUgn9094
    ECgene: UNC119 H-InvDB: UNC119

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UNC119 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UNC119 gene:
    Search GeneIP for patents involving UNC119

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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