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    Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 310288, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Hps3provided by RGD
    Official Full Name
    HPS3, biogenesis of lysosomal organelles complex 2 subunit 1provided by RGD
    Primary source
    RGD:1310548
    See related
    EnsemblRapid:ENSRNOG00000031406 AllianceGenome:RGD:1310548
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to act upstream of or within pigmentation. Predicted to be part of BLOC-2 complex. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3. Orthologous to human HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Spleen (RPKM 95.0), Liver (RPKM 69.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Hps3 in Genome Data Viewer
    Location:
    2q24
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 2 NC_086020.1 (104413618..104455091, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 2 NC_051337.1 (102484574..102527580, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 2 NC_005101.4 (104789423..104832964, complement)

    Chromosome 2 - NC_086020.1Genomic Context describing neighboring genes Neighboring gene succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial pseudogene Neighboring gene ribosome biogenesis regulator 1 homolog, pseudogene 9 Neighboring gene ceruloplasmin Neighboring gene uncharacterized LOC134485607 Neighboring gene helicase-like transcription factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Huizing M, et al. Am J Hum Genet, 2001 Nov. PMID 11590544, Free PMC Article
    2. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Anikster Y, et al. Nat Genet, 2001 Aug. PMID 11455388
    3. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Di Pietro SM, et al. Traffic, 2004 Apr. PMID 15030569
    4. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Suzuki T, et al. Genomics, 2001 Nov. PMID 11707070
    5. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations. Moore KJ, et al. Genetics, 1990 Jun. PMID 2379821, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in organelle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within pigmentation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of BLOC-2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BLOC-2 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    BLOC-2 complex member HPS3
    Names
    Hermansky-Pudlak syndrome 3 homolog

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001107664.1 → NP_001101134.1  BLOC-2 complex member HPS3

      See identical proteins and their annotated locations for NP_001101134.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473961
      UniProtKB/TrEMBL
      A6IHC6, D3ZGG8
      Related
      ENSRNOP00000050238.5, ENSRNOT00000050440.7
      Conserved Domains (3) summary
      pfam14761
      Location:3 → 212
      HPS3_N; Hermansky-Pudlak syndrome 3
      pfam14762
      Location:255 → 637
      HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
      pfam14763
      Location:651 → 1000
      HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086020.1 Reference GRCr8

      Range
      104413618..104455091 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008760868.4 → XP_008759090.1  BLOC-2 complex member HPS3 isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZU61
      Related
      ENSRNOP00000081948.1, ENSRNOT00000102644.2
      Conserved Domains (3) summary
      pfam14761
      Location:3 → 212
      HPS3_N; Hermansky-Pudlak syndrome 3
      pfam14762
      Location:255 → 637
      HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
      pfam14763
      Location:651 → 960
      HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

    2. XM_063281769.1 → XP_063137839.1  BLOC-2 complex member HPS3 isoform X2

    3. XM_039102237.1 → XP_038958165.1  BLOC-2 complex member HPS3 isoform X3

      Conserved Domains (2) summary
      pfam14762
      Location:1 → 221
      HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
      pfam14763
      Location:232 → 541
      HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

    RNA

    1. XR_590973.4 RNA Sequence

    2. XR_005500284.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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