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    UNC119 unc-119 homolog (C. elegans) [ Homo sapiens ]

    Gene ID: 9094, updated on 11-May-2012

    Summary

    Official Symbol
    UNC119provided by HGNC
    Official Full Name
    unc-119 homolog (C. elegans)provided by HGNC
    Primary source
    HGNC:12565
    See related
    Ensembl:ENSG00000109103; HPRD:04927; MIM:604011; Vega:OTTHUMG00000132606
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HRG4; POC7; POC7A
    Summary
    This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    17q11.2
    Sequence :
    Chromosome: 17; NC_000017.10 (26873725..26879646, complement)
    See UNC119 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 Neighboring gene forkhead box N1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class S Neighboring gene aldolase C, fructose-bisphosphate

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q13432 Hypothetical protein FLJ11506 AAGAB    HPRD  PubMed  
    Q13432 P05091 ALDH2    HPRD  PubMed  
    Q13432 P12429 ANXA3    HPRD  PubMed  
    Q13432 ADP ribosylation factor related protein 2 ARL15    HPRD  PubMed  
    Q13432 P36404 ARL2    HPRD  PubMed  
    Q13432 P36405 ARL3    HPRD  PubMed  
    Q13432 P49703 ARL4D    HPRD  PubMed  
    Q13432 Q9UBL3 ASH2L    HPRD  PubMed  
    Q13432 P11274 BCR    HPRD  PubMed  
    Q13432 Q8TDN6 BRIX1    HPRD  PubMed  
    Q13432 Q9BX70 BTBD2    HPRD  PubMed  
    Q13432 Q96GX8 C16orf74    HPRD  PubMed  
    Q13432 Q9HC52 CBX8    HPRD  PubMed  
    Q13432 P55774 CCL18    HPRD  PubMed  
    Q13432 P20963 CD247    HPRD  PubMed  
    Q13432 P07766 CD3E    HPRD  PubMed  
    Q13432 P01730 CD4    HPRD  PubMed  
    Q13432 P60953 CDC42    HPRD  PubMed  
    Q13432 P42773 CDKN2C    HPRD  PubMed  
    Q13432 O15182 CETN3    HPRD  PubMed  
    Q13432 P17540 CKMT2    HPRD  PubMed  
    Q13432 P33552 CKS2    HPRD  PubMed  
    Q13432 Q14061 COX17    HPRD  PubMed  
    Q13432 O14569 CYB561D2    HPRD  PubMed  
    Q13432 P20042 EIF2S2    HPRD  PubMed  
    Q13432 P84090 ERH    HPRD  PubMed  
    Q13432 FK506 binding protein like FKBPL    HPRD  PubMed  
    Q13432 Q9H0Q3 FXYD6    HPRD  PubMed  
    Q13432 P06241 FYN    HPRD  PubMed  
    Q13432 Q8TF65 GIPC2    HPRD  PubMed  
    Q13432 Q03013 GSTM4    HPRD  PubMed  
    Q13432 Q15486 GUSBP1    HPRD  PubMed  
    Q13432 P08631 HCK    HPRD  PubMed  
    Q13432 P01909 HLA-DQA1    HPRD  PubMed  
    Q13432 P09429 HMGB1    HPRD  PubMed  
    Q13432 Q12988 HSPB3    HPRD  PubMed  
    Q13432 P61604 HSPE1    HPRD  PubMed  
    Q13432 Q02363 ID2    HPRD  PubMed  
    Q13432 Q01344 IL5RA    HPRD  PubMed  
    Q13432 Q15811 ITSN1    HPRD  PubMed  
    Q13432 O60341 KDM1A    HPRD  PubMed  
    Q13432 Q16363 LAMA4    HPRD  PubMed  
    Q13432 P06239 LCK    HPRD  PubMed  
    Q13432 Q9Y383 LUC7L2    HPRD  PubMed  
    Q13432 P07948 LYN    HPRD  PubMed  
    Q13432 P53779 MAPK10    HPRD  PubMed  
    Q13432 Q99547 MPHOSPH6    HPRD  PubMed  
    Q13432 O15235 MRPS12    HPRD  PubMed  
    Q13432 Q96SN7 ORAI2    HPRD  PubMed  
    Q13432 Q15102 PAFAH1B3    HPRD  PubMed  
    Q13432 O43252 PAPSS1    HPRD  PubMed  
    Q13432 Q9UN74 PCDHA4    HPRD  PubMed  
    Q13432 P07737 PFN1    HPRD  PubMed  
    Q13432 Q8WUB8 PHF10    HPRD  PubMed  
    Q13432 Q15181 PPA1    HPRD  PubMed  
    Q13432 O43688 PPAP2C    HPRD  PubMed  
    Q13432 O00231 PSMD11    HPRD  PubMed  
    Q13432 Q13200 PSMD2    HPRD  PubMed  
    Q13432 Q13332 PTPRS    HPRD  PubMed  
    Q13432 Q9BXR0 QTRT1    HPRD  PubMed  
    Q13432 P40937 RFC5    HPRD  PubMed  
    Q13432 O15211 RGL2    HPRD  PubMed  
    Q13432 P15927 RPA2    HPRD  PubMed  
    Q13432 Q7L099 RUFY3    HPRD  PubMed  
    Q13432 P26447 S100A4    HPRD  PubMed  
    Q13432 P05109 S100A8    HPRD  PubMed  
    Q13432 P21673 SAT1    HPRD  PubMed  
    Q13432 P49903 SEPHS1    HPRD  PubMed  
    Q13432 P50453 SERPINB9    HPRD  PubMed  
    Q13432 Q16637 SMN2    HPRD  PubMed  
    Q13432 P49888 SULT1E1    HPRD  PubMed  
    Q13432 P04183 TK1    HPRD  PubMed  
    Q13432 Q13625 TP53BP2    HPRD  PubMed  
    Q13432 Q53FA7 TP53I3    HPRD  PubMed  
    Q13432 O14717 TRDMT1    HPRD  PubMed  
    Q13432 P63146 UBE2B    HPRD  PubMed  
    Q13432 P63279 UBE2I    HPRD  PubMed  
    Q13432 Q9NRR5 UBQLN4    HPRD  PubMed  
    Q13432 Q9NPA5 ZFP64    HPRD  PubMed  
    Q13432 P17028 ZNF24    HPRD  PubMed  
    BioGRID:114548 BioGRID:106719 ALDH2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:128096 ANKRD24    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:106798 ANXA1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:106803 ANXA3    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:106807 ANXA7    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:120080 ARL15    BioGRID  PubMed Two-hybrid 
    NP_001658.1 ARL2    BIND  PubMed HRG4 interacts with ARL2. 
    BioGRID:114548 BioGRID:106895 ARL2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:114548 BioGRID:106896 ARL3    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:106874 ARL4D    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:114528 ASH2L    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:107083 BCR    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:120586 BRIX1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:120778 BTBD2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:135663 C16orf74    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:121487 CBX8    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:112265 CCL18    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:107357 CD247    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114548 BioGRID:107358 CD4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114548 BioGRID:107433 CDC42    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:107460 CDKN1A    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:107465 CDKN2C    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:107497 CETN3    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:107580 CKMT2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:107583 CKS2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:115374 COX17    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:116252 CYB561D2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:114411 EIF2S2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:108390 ERH    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:122007 FKBPL    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:119799 FXYD6    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:108810 FYN    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114548 BioGRID:120167 GIPC2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:109203 GSTM4    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:109305 HCK    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114548 BioGRID:109362 HLA-DQA1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:109389 HMGB1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:114470 HSPB3    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:109568 HSPE1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:109624 ID2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:109782 IL5RA    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:114548 BioGRID:112351 ITSN1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:116667 KDM1A    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:110104 LAMA4    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:110124 LCK    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114548 BioGRID:119646 LUC7L2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:110245 LYN    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114548 BioGRID:111588 MAPK10    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:117086 MAPK8IP2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:115495 MPHOSPH6    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:112098 MRPS12    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:123192 ORAI2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111087 PAFAH1B3    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:114522 PAPSS1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:121084 PCDHA4    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111237 PFN1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:120562 PHF10    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111317 PIN1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111460 PPA1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:114170 PPAP2C    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111689 PSMD11    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111681 PSMD2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111766 PTPRS    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:123623 QTRT1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111843 RAP1B    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:107529 RCC1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111917 RFC5    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111801 RGL2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:112038 RPA2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:114676 RPS6KA5    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:116566 RUFY3    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:112183 S100A4    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:112187 S100A8    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:112210 SAT1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:116589 SEPHS1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:111290 SERPINB9    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:112490 SMN1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:112660 SULT1E1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:112938 TK1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:113012 TP53BP2    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:114915 TP53I3    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:108124 TRDMT1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:114374 TSC22D1    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:202471 Tmsb4x    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:113168 UBE2B    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:113177 UBE2I    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:121223 UBQLN4    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:119725 ZAK    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:120853 ZFP64    BioGRID  PubMed Two-hybrid 
    BioGRID:114548 BioGRID:113403 ZNF24    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipid binding IDA
    Inferred from Direct Assay
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
     
    Process Evidence Code Pubs
    lipoprotein transport IDA
    Inferred from Direct Assay
    more info
     
    phototransduction TAS
    Traceable Author Statement
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    soluble fraction TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    protein unc-119 homolog A
    Names
    protein unc-119 homolog A
    retinal protein 4
    POC7 centriolar protein homolog A

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012302.1 RefSeqGene

      Range
      5001..10922
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005148.3NP_005139.1  protein unc-119 homolog A isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the most abundant transcript, and encodes the full-length isoform (a) of 240 aa.
      Source sequence(s)
      AF028788, BM848267, U40998
      Consensus CDS
      CCDS11233.1
      UniProtKB/Swiss-Prot
      Q13432
      Related
      ENSP00000337040, OTTHUMP00000163438, ENST00000335765, OTTHUMT00000255842
      Conserved Domains (1) summary
      pfam05351
      Location:78237
      Blast Score: 708
      GMP_PDE_delta; GMP-PDE, delta subunit
    2. NM_054035.2NP_473376.1  protein unc-119 homolog A isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional segment in the 3' region compared to transcript variant 1. This results in a shorter isoform (b) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF028789, BM848267, U40998
      Consensus CDS
      CCDS11234.1
      UniProtKB/Swiss-Prot
      Q13432
      Related
      ENSP00000301032, OTTHUMP00000163439, ENST00000301032, OTTHUMT00000255843
      Conserved Domains (1) summary
      pfam05351
      Location:78198
      Blast Score: 532
      GMP_PDE_delta; GMP-PDE, delta subunit

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      26873725..26879646, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      23082548..23088469, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC005726.1 (105187..111105) None
    genomic AF125997.1 AAD31422.1
    genomic AF125998.1 AAD31422.1
    genomic CH471159.1 EAW51093.1
      EAW51094.1
      EAW51095.1
      EAW51096.1
      EAW51097.1
      EAW51098.1
    mRNA AB593014.1 BAJ83969.1
    mRNA AF028788.1 AAD01875.1
    mRNA AF028789.1 AAD01876.1
    mRNA AK124531.1 BAG54049.1
    mRNA AK292329.1 BAF85018.1
    mRNA BC027176.1 AAH27176.1
    mRNA BM848267.1 None
    mRNA BX641031.1 CAE46019.1
    mRNA BX647747.1 None
    mRNA BX648530.1 None
    mRNA U40998.1 AAC50360.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13432.1 GenPept UniProtKB/Swiss-Prot:Q13432
    Q6MZL1 GenPept UniProtKB/TrEMBL:Q6MZL1

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