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    rb ruby [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 31381, updated on 10-May-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 and visual system. 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, Apr 2022]
    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. Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster. Rodriguez-Fernandez IA, et al. PLoS One, 2015. PMID 26565960, Free PMC Article

    See all (82) 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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