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

Gene ID: 36656, updated on 4-Jan-2025

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, Jan 2025]
Orthologs
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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

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