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    Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 [ Mus musculus (house mouse) ]

    Gene ID: 246694, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Hps5provided by MGI
    Official Full Name
    HPS5, biogenesis of lysosomal organelles complex 2 subunit 2provided by MGI
    Primary source
    MGI:MGI:2180307
    See related
    Ensembl:ENSMUSG00000014418 AllianceGenome:MGI:2180307
    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
    hz; mr; ru2; haze; ru-2; maroon
    Summary
    Acts upstream of or within blood coagulation; organelle organization; and pigmentation. Predicted to be located in cytosol. Predicted to be part of BLOC-2 complex. Used to study Hermansky-Pudlak syndrome 5 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5. Orthologous to human HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta adult (RPKM 7.9), limb E14.5 (RPKM 6.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hps5 in Genome Data Viewer
    Location:
    7 B3; 7 30.56 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (46409890..46445501, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (46760466..46796065, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_18868 Neighboring gene serum amyloid A 1 Neighboring gene serum amyloid A 2 Neighboring gene STARR-seq mESC enhancer starr_18870 Neighboring gene STARR-positive B cell enhancer ABC_E6548 Neighboring gene STARR-seq mESC enhancer starr_18871 Neighboring gene general transcription factor II H, polypeptide 1 Neighboring gene STARR-seq mESC enhancer starr_18872 Neighboring gene Rap1A-retro1 Neighboring gene predicted gene 5331

    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. Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. Itoh Y, et al. Pigment Cell Melanoma Res, 2016 Sep. PMID 27333462
    2. The mouse ruby-eye 2(d) (ru2(d) /Hps5(ru2-d) ) allele inhibits eumelanin but not pheomelanin synthesis. Hirobe T, et al. Pigment Cell Melanoma Res, 2013 Sep. PMID 23672590
    3. A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes. Hirobe T, et al. Zoolog Sci, 2012 Oct. PMID 23030338
    4. How are proliferation and differentiation of melanocytes regulated? Hirobe T. Pigment Cell Melanoma Res, 2011 Jun. PMID 21375698
    5. A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine. Hirobe T, et al. Zoolog Sci, 2011 Nov. PMID 22035301

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nonsense Mutation in HPS5 gene is associated with hypopigmentation in colitis mice.
      Title: Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation.
    2. Effects of the ru2(d) allele on pheomelanin synthesis were investigated.
      Title: The mouse ruby-eye 2(d) (ru2(d) /Hps5(ru2-d) ) allele inhibits eumelanin but not pheomelanin synthesis.
    3. These results suggest that the ru2(d) allele suppresses the differentiation of melanocytes through the inhibition of eumelanin synthesis, but stimulates pheomelanin synthesis in melanocytes.
      Title: A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes.
    4. These results suggest that the ru2(d) allele inhibits melanocyte differentiation, and that its impaired differentiation is rescued by excess tyrosine.
      Title: A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine.
    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
    • Chemically induced (ENU) (5) 
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99886

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in developmental pigmentation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in melanosome assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    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 HPS5
    Names
    Hermansky-Pudlak syndrome 5 homolog
    hermansky-Pudlak syndrome 5 protein homolog
    ruby eye 2
    ruby-eye protein 2

    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_001005247.2 → NP_001005247.2  BLOC-2 complex member HPS5 isoform 1

      See identical proteins and their annotated locations for NP_001005247.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF534396, BC082542
      Consensus CDS
      CCDS21286.1
      UniProtKB/Swiss-Prot
      G3X8S7, P59438
      UniProtKB/TrEMBL
      Q640Q9
      Related
      ENSMUSP00000014562.8, ENSMUST00000014562.14
      Conserved Domains (1) summary
      sd00039
      Location:37 → 75
      7WD40; WD40 repeat [structural motif]

    2. NM_001005248.2 → NP_001005248.2  BLOC-2 complex member HPS5 isoform 1

      See identical proteins and their annotated locations for NP_001005248.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF534397, BC082542
      Consensus CDS
      CCDS21286.1
      UniProtKB/Swiss-Prot
      G3X8S7, P59438
      UniProtKB/TrEMBL
      Q640Q9
      Conserved Domains (1) summary
      sd00039
      Location:37 → 75
      7WD40; WD40 repeat [structural motif]

    3. NM_001167864.1 → NP_001161336.1  BLOC-2 complex member HPS5 isoform 2

      See identical proteins and their annotated locations for NP_001161336.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 1. This difference results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AF534397, BC082542
      Consensus CDS
      CCDS52254.1
      UniProtKB/TrEMBL
      E9Q3X4, Q640Q9
      Related
      ENSMUSP00000103280.2, ENSMUST00000107653.8
      Conserved Domains (1) summary
      sd00039
      Location:37 → 75
      7WD40; WD40 repeat [structural motif]

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      46409890..46445501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540904.4 → XP_006540967.1  BLOC-2 complex member HPS5 isoform X1

      See identical proteins and their annotated locations for XP_006540967.1

      UniProtKB/Swiss-Prot
      G3X8S7, P59438
      UniProtKB/TrEMBL
      Q640Q9
      Conserved Domains (1) summary
      sd00039
      Location:37 → 75
      7WD40; WD40 repeat [structural motif]

    2. XM_036153128.1 → XP_036009021.1  BLOC-2 complex member HPS5 isoform X3

      UniProtKB/TrEMBL
      F6Q7C7

    3. XM_006540905.4 → XP_006540968.1  BLOC-2 complex member HPS5 isoform X1

      See identical proteins and their annotated locations for XP_006540968.1

      UniProtKB/Swiss-Prot
      G3X8S7, P59438
      UniProtKB/TrEMBL
      Q640Q9
      Related
      ENSMUSP00000103281.2, ENSMUST00000107654.8
      Conserved Domains (1) summary
      sd00039
      Location:37 → 75
      7WD40; WD40 repeat [structural motif]

    4. XM_030242592.2 → XP_030098452.1  BLOC-2 complex member HPS5 isoform X3

      UniProtKB/TrEMBL
      F6Q7C7

    5. XM_017322269.3 → XP_017177758.1  BLOC-2 complex member HPS5 isoform X3

      UniProtKB/TrEMBL
      F6Q7C7
      Related
      ENSMUSP00000119876.2, ENSMUST00000153789.8

    6. XM_017322268.3 → XP_017177757.1  BLOC-2 complex member HPS5 isoform X3

      UniProtKB/TrEMBL
      F6Q7C7

    7. XM_030242591.2 → XP_030098451.1  BLOC-2 complex member HPS5 isoform X2

      UniProtKB/TrEMBL
      Q3TU08

    RNA

    1. XR_003946479.2 RNA Sequence

      Related
      ENSMUST00000211347.2

    2. XR_391343.5 RNA Sequence

      Related
      ENSMUST00000142663.8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178742.2: Suppressed sequence

      Description
      NM_178742.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59438.2 GenPept UniProtKB/Swiss-Prot:P59438

    Gene LinkOut

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

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