U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 310288, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
BLOC-2 complex member HPS3
Names
Hermansky-Pudlak syndrome 3 homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools