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UNC119B Gene

protein-coding   GIFtS: 49
GCID: GC12P121147

Unc-119 Homolog B (C. Elegans)

(Previous name: unc119 (C.elegans) homolog B)
  See related disease
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 B (C. Elegans)1 2
POC7 Centriolar Protein Homolog B (Chlamydomonas)1
Unc119 (C.Elegans) Homolog B1
POC7B2
POC7 Centriolar Protein Homolog B2
Protein Unc-119 Homolog B2

External Ids:    HGNC: 164881   Entrez Gene: 847472   Ensembl: ENSG000001759707   UniProtKB: A6NIH73   

Export aliases for UNC119B gene to outside databases

Previous GC identifers: GC00U991105 GC12U900457 GC12P119634 GC12P118157


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for UNC119B Gene:
UNC119B (unc-119 homolog B (C. elegans)) is a protein-coding gene. Diseases associated with UNC119B include nephronophthisis. GO annotations related to this gene include lipid binding. An important paralog of this gene is UNC119.

UniProtKB/Swiss-Prot: U119B_HUMAN, A6NIH7
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 NPHP3
and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated
proteins. Probably plays a role in trafficking proteins in photoreceptor cells




(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:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the UNC119B gene promoter:
         Nkx3-1   Sox5   Nkx3-1 v4   Nkx3-1 v1   Gfi-1   Nkx3-1 v2   Nkx3-1 v3   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for UNC119B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UNC119B


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

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24

UNC119B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UNC119B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P121147:  view genomic region     (about GC identifiers)

Start:
121,147,831 bp from pter      End:
121,161,443 bp from pter
Size:
13,613 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: U119B_HUMAN, A6NIH7 (See protein sequence)
Recommended Name: Protein unc-119 homolog B  
Size: 251 amino acids; 28137 Da
Subunit: Found in a complex with ARL3, RP2 and UNC119B; RP2 induces hydrolysis of GTP ARL3 in the complex, leading
to the release of UNC119B. Interacts with NPHP3 (when myristoylated). Interacts with CYS1 (when myristoylated).
Interacts with C5orf30; interaction only takes place when UNC119B is not liganded with myristoylated proteins

Explore the universe of human proteins at neXtProt for UNC119B: NX_A6NIH7

Explore proteomics data for UNC119B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys86
  • Modification sites at PhosphoSitePlus

  • See UNC119B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001074002.1  
    ENSEMBL proteins: 
     ENSP00000344942  

    UNC119B Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for UNC119B


    (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 A6NIH7

    ProtoNet protein and cluster: A6NIH7

    UniProtKB/Swiss-Prot: U119B_HUMAN, A6NIH7
    Domain: Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that capture N-terminally
    myristoylated target peptides. Phe residues within the hydrophobic beta sandwich are required for myristate
    binding (PubMed:22085962)
    Similarity: Belongs to the PDE6D/unc-119 family


    UNC119B for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: U119B_HUMAN, A6NIH7
    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 NPHP3
    and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated
    proteins. Probably plays a role in trafficking proteins in photoreceptor cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008289lipid binding IDA--
         
    UNC119B for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UNC119B
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    miRNA
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    miRTarBase miRNAs that target UNC119B:
    hsa-mir-1 (MIRT024043)

    Block miRNA regulation of human, mouse, rat UNC119B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UNC119B (see all 34):
    hsa-miR-300 hsa-miR-605 hsa-miR-124 hsa-miR-506 hsa-miR-3148 hsa-miR-616 hsa-miR-222* hsa-miR-186*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (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
    U119B_HUMAN, A6NIH7: Cell projection, cilium. Note=Enriched at the transition zone and extended into the proximal
    end of the cilium
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035869ciliary transition zone IDA--

    UNC119B for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UNC119B
    Interactions:

        Search GeneGlobe Interaction Network for UNC119B

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    Selected Interacting proteins for UNC119B (A6NIH72, 3 ENSP000003449424) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL3P364053I2D: score=4 
    INSRP062133I2D: score=1 
    GNAT1P114882MINT-8411962
    NPHP3Q7Z4942MINT-8411953
    NPHP3-ACAD11Q7Z4942MINT-8411953
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042953lipoprotein transport IDA--
    GO:0060271cilium morphogenesis IMP--

    UNC119B for ontologies           About GeneDecksing



    (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 UNC119B (U119B)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UNC119B gene (2 alternative transcripts): 
    NM_032661.1  NM_001080533.2  

    Unigene Cluster for UNC119B:

    Unc-119 homolog B (C. elegans)
    Hs.127610  [show with all ESTs]
    Unigene Representative Sequence: BC070088
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344651(uc001tyz.3) ENST00000539658
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate UNC119B (see all 34):
    hsa-miR-300 hsa-miR-605 hsa-miR-124 hsa-miR-506 hsa-miR-3148 hsa-miR-616 hsa-miR-222* hsa-miR-186*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiFast Probe-based Assays in human, mouse, rat UNC119B

    Additional mRNA sequence: 

    AK057021.1 AK126367.1 AL137327.1 BC004815.1 BC070088.1 

    5 DOTS entries:

    DT.447693  DT.100751827  DT.92047085  DT.91740973  DT.91851393 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for UNC119B    About this scheme

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


    ECgene alternative splicing isoforms for UNC119B

    (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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    UNC119B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACAGTAAT
    UNC119B Expression
    About this image

    UNC119B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UNC119B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.127610
        Custom PCR Arrays for UNC119B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC119B

    (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 UNC119B gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Unc119b1 , 5 unc-119 homolog B (C. elegans)1, 5 85.39(n)1
    90.44(a)1
      5 (55.99 cM)5
    1068401  NM_175352.41  NP_780561.11 
     1151225505 
    chicken
    (Gallus gallus)
    Aves UNC119B1 unc-119 homolog B (C. elegans) 76.42(n)
    79.48(a)
      416970  XM_415263.3  XP_415263.2 
    lizard
    (Anolis carolinensis)
    Reptilia UNC119B6
    unc-119 homolog B (C. elegans)
    73(a)
    1 ↔ 1
    GL343338.1(181181-184395)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia unc119b1 unc-119 homolog B 74.47(n)
    80(a)
      549569  NM_001016815.2  NP_001016815.1 
    zebrafish
    (Danio rerio)
    Actinopterygii unc119.11 unc-119 homolog 1 71.28(n)
    75(a)
      338230  NM_212787.1  NP_997952.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-1196
    unc-119
    48(a)
    1 → many
    X(7182713-7185337)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1191 unc-119 62.43(n)
    61.9(a)
      176519  NM_001268159.1  NP_001255088.1 


    ENSEMBL Gene Tree for UNC119B (if available)
    TreeFam Gene Tree for UNC119B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UNC119B gene
    UNC1192  
    2 SIMAP similar genes for UNC119B using alignment to 2 protein entries:     U119B_HUMAN (see all proteins):
    DKFZp686E1393    UNC119

    UNC119B for paralogs           About GeneDecksing



    (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 UNC119B (see all 276)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1457838141,2
    --121145859(+) CTGGAA/TGCAGT 1 -- us2k10--------
    rs110652191,2
    C,F,H--121146219(+) CCTTCC/TGTAAA 1 -- us2k111Minor allele frequency- T:0.06NS EA NA 1258
    rs110652201,2
    C--121146260(+) CCACCC/TTCTTG 1 -- us2k12Minor allele frequency- T:0.23CSA EA 122
    rs1125916891,2
    C--121146295(+) TAAAAG/ATTCTG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1891219381,2
    --121146406(+) CAGTTA/GGTTAA 1 -- us2k10--------
    rs1386278711,2
    --121146581(+) GCAAGG/TCCTGG 1 -- us2k10--------
    rs1815386231,2
    --121146624(+) CAATTC/TTACTC 1 -- us2k10--------
    rs1426851741,2
    --121146682(+) ATCAGA/GCCCAG 1 -- us2k10--------
    rs1856174731,2
    --121146698(+) CAACAC/TAGAAC 1 -- us2k10--------
    rs780002191,2
    C,F--121146994(+) GTCACA/GTAATG 1 -- us2k12Minor allele frequency- G:0.19WA 120

    HapMap Linkage Disequilibrium report for UNC119B (121147831 - 121161443 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for UNC119B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658765CNV Deletion23128226
    nsv899557CNV Loss21882294
    nsv521928CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UNC119B
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for UNC119B:    
    About MalaCards
    nephronophthisis

    1 disease from the University of Copenhagen DISEASES database for UNC119B:
    Nephronophthisis

    UNC119B for disorders           About GeneDecksing

    Genetic Association Database (GAD): UNC119B
    Human Genome Epidemiology (HuGE) Navigator: UNC119B (3 documents)

    Export disorders for UNC119B 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 UNC119B gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with UNC119B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human metabolic individuality in biomedical and pharmaceutical research. (PubMed id 21886157)1, 4 Suhre K....Gieger C. (Nature 2011)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)1, 2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PubMed id 22085962)2 Wright K.J.... Jackson P.K. (Genes Dev. 2011)
    10. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84747 HGNC: 16488 Ensembl:ENSG00000175970 euGenes: HUgn84747 ECgene: UNC119B
    H-InvDB: UNC119B

    (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 UNC119B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UNC119B gene:
    Search GeneIP for patents involving UNC119B

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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