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    rb ruby [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 31381, updated on 9-Dec-2024

    Summary

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    Official Symbol
    rbprovided by FlyBase
    Official Full Name
    rubyprovided by FlyBase
    Primary source
    FLYBASE:FBgn0003210
    Locus tag
    Dmel_CG11427
    See related
    AllianceGenome:FB:FBgn0003210
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    AP-3beta; apl6; beta3; cg11427; CG11427; Dmel\CG11427; Rb
    Summary
    Predicted to enable cargo adaptor activity. Involved in several processes, including Notch receptor processing; determination of adult lifespan; and ommochrome biosynthetic process. Predicted to be part of AP-3 adaptor complex. Is expressed in several structures, including adult brain cell body rind; adult glial cell; photoreceptor neurons; and retina. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome (multiple); developmental and epileptic encephalopathy 48; interstitial lung disease (multiple); and neutropenia. Orthologous to several human genes including AP3B2 (adaptor related protein complex 3 subunit beta 2). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    Location:
    4C7-4C7; 1-8 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) X NC_004354.4 (4535635..4540626, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) X NC_004354.3 (4429668..4434659, complement)

    Chromosome X - NC_004354.4Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR32773 Neighboring gene bifid Neighboring gene uncharacterized protein Neighboring gene CHOp24 Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Immunogenetic studies of Drosophila melanogaster; interaction between the rb and v loci in production of antigens. FOX AS. Genetics, 1949 Nov. PMID 15393913, Free PMC Article
    2. Defective pigment granule biogenesis and aberrant behavior caused by mutations in the Drosophila AP-3beta adaptin gene ruby. Kretzschmar D, et al. Genetics, 2000 May. PMID 10790396, Free PMC Article
    3. Genetic Studies on DROSOPHILA SIMULANS. II. Sex-Linked Group of Genes. Sturtevant AH. Genetics, 1921 Jan. PMID 17245955, Free PMC Article
    4. Modeling human brain tumors in flies, worms, and zebrafish: From proof of principle to novel therapeutic targets. Shahzad U, et al. Neuro Oncol, 2021 May 5. PMID 33378446, Free PMC Article
    5. Enhancement and Suppression of a Euchromatic Position Effect at NOTCH in Drosophila. Welshons WJ, et al. Genetics, 1986 Jun. PMID 17246329, Free PMC Article

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Combined inactivation of RB and Hippo converts differentiating Drosophila photoreceptors into eye progenitor cells through derepression of homothorax.
      Title: Combined inactivation of RB and Hippo converts differentiating Drosophila photoreceptors into eye progenitor cells through derepression of homothorax.
    2. Data suggest that UTX is a suppressor of Notch- and Rb-dependent tumors in Drosophila melanogaster and may provide a model for UTX-dependent tumorigenesis in humans.
      Title: The H3K27me3 demethylase dUTX is a suppressor of Notch- and Rb-dependent tumors in Drosophila.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables cargo adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in Notch receptor processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in determination of adult lifespan IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in eye pigment biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in lysosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in ommochrome biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of lipid storage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of AP-3 adaptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of AP-3 adaptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    part_of membrane coat IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ruby
    Names
    CG11427-PA
    CG11427-PC
    CG11427-PD
    adaptor protein complex 3, beta subunit
    rb-PA
    rb-PC
    rb-PD

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_004354.4 Reference assembly

      Range
      4535635..4540626 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001272310.1 → NP_001259239.1  ruby, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001259239.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0C5K8A6, E1JJE0, Q9W4K1
      Conserved Domains (4) summary
      pfam01602
      Location:40 → 621
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:129 → 252
      Cnd1; non-SMC mitotic condensation complex subunit 1
      pfam14796
      Location:881 → 1019
      AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
      sd00044
      Location:117 → 144
      HEAT; HEAT repeat [structural motif]

    2. NM_080332.4 → NP_525071.2  ruby, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_525071.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0C5K8A6, E1JJE0, Q9W4K1
      Related
      FBpp0070670
      Conserved Domains (4) summary
      pfam01602
      Location:40 → 621
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:129 → 252
      Cnd1; non-SMC mitotic condensation complex subunit 1
      pfam14796
      Location:881 → 1019
      AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
      sd00044
      Location:117 → 144
      HEAT; HEAT repeat [structural motif]

    3. NM_001169193.2 → NP_001162664.2  ruby, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001162664.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0C5K8A6, E1JJE0, Q9W4K1
      Conserved Domains (4) summary
      pfam01602
      Location:40 → 621
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:129 → 252
      Cnd1; non-SMC mitotic condensation complex subunit 1
      pfam14796
      Location:881 → 1019
      AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
      sd00044
      Location:117 → 144
      HEAT; HEAT repeat [structural motif]
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O77290 O77290
    Q7YU20 Q7YU20
    Q9W4K1 Q9W4K1

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