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

Gene ID: 246694, updated on 18-Sep-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 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)
  • Chemically induced (ENU) (5) 
  • Endonuclease-mediated (1) 
  • Spontaneous (7)  1 citation

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 IEA
Inferred from Electronic Annotation
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

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