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    Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 114638, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Hps1provided by RGD
    Official Full Name
    HPS1, biogenesis of lysosomal organelles complex 3 subunit 1provided by RGD
    Primary source
    RGD:69193
    See related
    EnsemblRapid:ENSRNOG00000045838 AllianceGenome:RGD:69193
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Hps
    Summary
    Predicted to enable protein dimerization activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in melanosome assembly. Predicted to act upstream of or within with a negative effect on gene expression. Predicted to act upstream of or within several processes, including intracellular zinc ion homeostasis; positive regulation of natural killer cell activation; and secretion of lysosomal enzymes. Predicted to be located in cytoplasmic vesicle. Predicted to be 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]
    Expression
    Biased expression in Kidney (RPKM 90.8), Thymus (RPKM 75.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Hps1 in Genome Data Viewer
    Location:
    1q54
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (251500427..251526529, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (241551180..241577292, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (261989178..262015282, complement)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA17 Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 2 Neighboring gene TD and POZ domain containing 1, pseudogene 20 Neighboring gene heparanase 2 (inactive) Neighboring gene uncharacterized LOC134484056

    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. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. Ito S, et al. J Invest Dermatol, 2005 Oct. PMID 16185271
    2. Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus. Oh J, et al. Mamm Genome, 2001 Jun. PMID 11353395
    3. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Oh J, et al. Nat Genet, 1996 Nov. PMID 8896559
    4. Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. Lyerla TA, et al. Am J Physiol Lung Cell Mol Physiol, 2003 Sep. PMID 12777251
    5. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. Martina JA, et al. J Biol Chem, 2003 Aug 1. PMID 12756248

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    contributes_to guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein dimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within blood coagulation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cell morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within eye pigmentation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within_negative_effect gene expression ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within inflammatory response ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within intracellular zinc ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lung development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lung morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lysosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within melanocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in melanosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in melanosome assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pigmentation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of natural killer cell activation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within respiratory system process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within retina development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within secretion of lysosomal enzymes ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within single fertilization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within spermatogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    BLOC-3 complex member HPS1
    Names
    Hermansky-Pudlak syndrome 1 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_001433779.1 → NP_001420708.1  BLOC-3 complex member HPS1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/TrEMBL
      A6JHC0, Q499V9, Q99MK7

    2. NM_001433780.1 → NP_001420709.1  BLOC-3 complex member HPS1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/TrEMBL
      A6JHC0, Q499V9, Q99MK7

    3. NM_001433781.1 → NP_001420710.1  BLOC-3 complex member HPS1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/TrEMBL
      A6JHC0, Q499V9, Q99MK7

    4. NM_040669.2 → NP_414541.2  BLOC-3 complex member HPS1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/TrEMBL
      A6JHC0, Q499V9, Q99MK7

    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_086019.1 Reference GRCr8

      Range
      251500427..251526529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006231378.4 → XP_006231440.1  BLOC-3 complex member HPS1 isoform X1

      Conserved Domains (3) summary
      pfam19036
      Location:2 → 159
      Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
      pfam19037
      Location:204 → 269
      Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
      pfam19038
      Location:546 → 701
      Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1

    2. XM_006231380.5 → XP_006231442.1  BLOC-3 complex member HPS1 isoform X1

      Related
      ENSRNOP00000092869.2, ENSRNOT00000118777.2
      Conserved Domains (3) summary
      pfam19036
      Location:2 → 159
      Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
      pfam19037
      Location:204 → 269
      Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
      pfam19038
      Location:546 → 701
      Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1

    3. XM_006231381.4 → XP_006231443.1  BLOC-3 complex member HPS1 isoform X1

      Conserved Domains (3) summary
      pfam19036
      Location:2 → 159
      Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
      pfam19037
      Location:204 → 269
      Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
      pfam19038
      Location:546 → 701
      Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1

    4. XM_006231379.4 → XP_006231441.1  BLOC-3 complex member HPS1 isoform X1

      Conserved Domains (3) summary
      pfam19036
      Location:2 → 159
      Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
      pfam19037
      Location:204 → 269
      Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
      pfam19038
      Location:546 → 701
      Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1

    5. XM_039108545.2 → XP_038964473.1  BLOC-3 complex member HPS1 isoform X1

      UniProtKB/TrEMBL
      A6JHC0, Q499V9, Q99MK7
      Conserved Domains (3) summary
      pfam19036
      Location:2 → 159
      Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
      pfam19037
      Location:204 → 269
      Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
      pfam19038
      Location:546 → 701
      Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1

    6. XM_039108489.2 → XP_038964417.1  BLOC-3 complex member HPS1 isoform X1

      UniProtKB/TrEMBL
      A6JHC0, Q499V9, Q99MK7
      Conserved Domains (3) summary
      pfam19036
      Location:2 → 159
      Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
      pfam19037
      Location:204 → 269
      Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
      pfam19038
      Location:546 → 701
      Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1

    7. XM_039108590.1 → XP_038964518.1  BLOC-3 complex member HPS1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JXZ4
      Conserved Domains (2) summary
      pfam19037
      Location:76 → 141
      Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
      pfam19038
      Location:418 → 573
      Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1
    Nucleotide Protein Strain
    Heading Accession and Version

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