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

Gene ID: 12807, updated on 3-Apr-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 organelle organization and 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, Apr 2022]
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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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
  • 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. 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
  2. Molecular biology of P-glycoprotein. Cornwell MM. Cancer Treat Res, 1991. PMID 1686722
  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. Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes. Kook S, et al. Am J Respir Cell Mol Biol, 2018 May. PMID 29190429, 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)
  • Spontaneous (7)  1 citation
  • Targeted (1) 
  • Chemically induced (ENU) (3) 

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 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

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