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

Gene ID: 114638, updated on 27-Nov-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, Nov 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

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

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000001

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

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000001

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

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000001

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

    UniProtKB/TrEMBL
    A6JHC0, Q499V9
    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

    UniProtKB/TrEMBL
    A6JHC0, Q499V9
    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

    UniProtKB/TrEMBL
    A6JHC0, Q499V9
    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

    UniProtKB/TrEMBL
    A6JHC0, Q499V9
    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
    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
    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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