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    Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 12807, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Hps3provided by MGI
    Official Full Name
    HPS3, biogenesis of lysosomal organelles complex 2 subunit 1provided by MGI
    Primary source
    MGI:MGI:2153839
    See related
    Ensembl:ENSMUSG00000027615 AllianceGenome:MGI:2153839
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    coa
    Summary
    Acts upstream of or within pigmentation. Located in cytoplasm. Used to study Hermansky-Pudlak syndrome 3 and platelet storage pool deficiency. 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
    Ubiquitous expression in spleen adult (RPKM 5.0), bladder adult (RPKM 4.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hps3 in Genome Data Viewer
    Location:
    3 A2; 3 6.12 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (20050109..20089478, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (19995945..20035334, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 17771 Neighboring gene predicted gene, 42190 Neighboring gene ceruloplasmin Neighboring gene STARR-seq mESC enhancer starr_07104 Neighboring gene STARR-seq mESC enhancer starr_07105 Neighboring gene STARR-positive B cell enhancer ABC_E3428 Neighboring gene STARR-seq mESC enhancer starr_07106 Neighboring gene STARR-seq mESC enhancer starr_07107 Neighboring gene STARR-positive B cell enhancer ABC_E1018 Neighboring gene helicase-like transcription factor Neighboring gene STARR-seq mESC enhancer starr_07108 Neighboring gene VISTA enhancer mm86 Neighboring gene glycogenin 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Molecular biology of P-glycoprotein. Cornwell MM. Cancer Treat Res, 1991. PMID 1686722
    2. Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. Huizing M, et al. Mol Genet Metab, 2001 Sep-Oct. PMID 11592818
    3. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). Gautam R, et al. J Biol Chem, 2004 Mar 26. PMID 14718540
    4. Cocoa: a new mouse model for platelet storage pool deficiency. Novak EK, et al. Br J Haematol, 1988 Jul. PMID 3408670
    5. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Young LR, et al. Am J Respir Crit Care Med, 2012 Nov 15. PMID 23043085, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HPS3 is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2)
      Title: The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (3) 
    • Spontaneous (7)  1 citation
    • Targeted (1) 

    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 MGI

    Process Evidence Code Pubs
    involved_in intracellular transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in melanosome assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in organelle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within organelle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in platelet dense granule organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BLOC-2 complex member HPS3
    Names
    Hermansky-Pudlak syndrome 3 homolog
    cocoa protein
    hermansky-Pudlak syndrome 3 protein 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_001146323.1 → NP_001139795.1  BLOC-2 complex member HPS3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK036663, BB660133, BC058235
      Consensus CDS
      CCDS50872.1
      UniProtKB/TrEMBL
      E9PZY1, Q3TAA3
      Related
      ENSMUSP00000103957.2, ENSMUST00000108321.2
      Conserved Domains (3) summary
      pfam14761
      Location:3 → 82
      HPS3_N; Hermansky-Pudlak syndrome 3
      pfam14762
      Location:123 → 508
      HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
      pfam14763
      Location:517 → 868
      HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

    2. NM_001146324.2 → NP_001139796.1  BLOC-2 complex member HPS3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC079442
      UniProtKB/TrEMBL
      Q8BX18
      Conserved Domains (2) summary
      pfam14761
      Location:3 → 212
      HPS3_N; Hermansky-Pudlak syndrome 3
      pfam14762
      Location:255 → 563
      HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region

    3. NM_001409878.1 → NP_001396807.1  BLOC-2 complex member HPS3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC079442

    4. NM_001409879.1 → NP_001396808.1  BLOC-2 complex member HPS3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC079442

    5. NM_001409880.1 → NP_001396809.1  BLOC-2 complex member HPS3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC079442

    6. NM_001409881.1 → NP_001396810.1  BLOC-2 complex member HPS3 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC079442

    7. NM_001409882.1 → NP_001396811.1  BLOC-2 complex member HPS3 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC079442

    8. NM_001409883.1 → NP_001396812.1  BLOC-2 complex member HPS3 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC079442

    9. NM_001409884.1 → NP_001396813.1  BLOC-2 complex member HPS3 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC079442

    10. NM_001409885.1 → NP_001396814.1  BLOC-2 complex member HPS3 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC079442

    11. NM_080634.4 → NP_542365.3  BLOC-2 complex member HPS3 isoform 1

      See identical proteins and their annotated locations for NP_542365.3

      Status: VALIDATED

      Source sequence(s)
      AK036663, BC058235
      Consensus CDS
      CCDS17260.1
      UniProtKB/Swiss-Prot
      Q6GTD8, Q8VDX2, Q8VHT1, Q91VB4
      UniProtKB/TrEMBL
      Q8BZK0
      Related
      ENSMUSP00000012580.7, ENSMUST00000012580.13
      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

    RNA

    1. NR_176915.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079442

    2. NR_176916.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079442

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      20050109..20089478 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535379.3 → XP_006535442.1  BLOC-2 complex member HPS3 isoform X3

      See identical proteins and their annotated locations for XP_006535442.1

      Conserved Domains (2) summary
      pfam14762
      Location:19 → 156
      HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
      pfam14763
      Location:167 → 516
      HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

    2. XM_036162877.1 → XP_036018770.1  BLOC-2 complex member HPS3 isoform X3

      Conserved Domains (2) summary
      pfam14762
      Location:19 → 156
      HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
      pfam14763
      Location:167 → 516
      HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

    RNA

    1. XR_004941271.1 RNA Sequence

    2. XR_001783645.3 RNA Sequence

    3. XR_001783646.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91VB4.2 GenPept UniProtKB/Swiss-Prot:Q91VB4

    Gene LinkOut

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

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