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    HPS1 Hermansky-Pudlak Syndrome 1 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 36656, updated on 9-Dec-2024

    Summary

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    Official Symbol
    HPS1provided by FlyBase
    Official Full Name
    Hermansky-Pudlak Syndrome 1provided by FlyBase
    Primary source
    FLYBASE:FBgn0033973
    Locus tag
    Dmel_CG12855
    See related
    AllianceGenome:FB:FBgn0033973
    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
    CG12855; dHPS1; Dmel\CG12855; HPS; NP_610997
    Summary
    Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Part of BLOC-3 complex. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See HPS1 in Genome Data Viewer
    Location:
    51C5-51C5; 2-72 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (14855429..14857502)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (10742934..10745007)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene Structural maintenance of chromosomes 2 Neighboring gene Ercc1 Neighboring gene Ciao1 Neighboring gene uncharacterized protein Neighboring gene U3 small nuclear riboprotein factor 55K Neighboring gene Pcf11 cleavage and polyadenylation factor subunit

    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. Drosophila ERCC1 is required for a subset of MEI-9-dependent meiotic crossovers. Radford SJ, et al. Genetics, 2005 Aug. PMID 15944364, Free PMC Article
    2. Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3. Cheli VT, et al. Traffic, 2010 May. PMID 20102546
    3. Silencing by small RNAs is linked to endosomal trafficking. Lee YS, et al. Nat Cell Biol, 2009 Sep. PMID 19684574, Free PMC Article
    4. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). Falcón-Pérez JM, et al. Traffic, 2007 Feb. PMID 17156100
    5. Circadian regulation of gene expression systems in the Drosophila head. Claridge-Chang A, et al. Neuron, 2001 Nov 20. PMID 11719206

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    contributes_to guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BLOC-3 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BLOC-3 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BLOC-3 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Hermansky-Pudlak syndrome 1
    Names
    CG12855-PA
    HPS1-PA
    Hermansky-Pudlak syndrome 1 ortholog

    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. NT_033778.4 Reference assembly

      Range
      14855429..14857502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_137153.4 → NP_610997.1  Hermansky-Pudlak syndrome 1 [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_610997.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7K3N1
      Related
      FBpp0086579
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7K3N1 Q7K3N1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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