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Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 [ Mus musculus (house mouse) ]

Gene ID: 192232, updated on 28-Oct-2024

Summary

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Official Symbol
Hps4provided by MGI
Official Full Name
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2provided by MGI
Primary source
MGI:MGI:2177742
See related
Ensembl:ENSMUSG00000042328 AllianceGenome:MGI:2177742
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
le; BLOC-3; mKIAA1667; 2010205O06Rik; C130020P05Rik
Summary
Enables small GTPase binding activity. Acts upstream of or within blood coagulation and melanocyte differentiation. Located in cytoplasmic vesicle. Is expressed in midgut and midgut loop. Used to study Hermansky-Pudlak syndrome 4 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 4; and schizophrenia. Orthologous to human HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in testis adult (RPKM 20.0), ovary adult (RPKM 17.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Hps4 in Genome Data Viewer
Location:
5 F; 5 54.69 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (112490849..112526290)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (112342983..112378424)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:112714594-112714795 Neighboring gene STARR-positive B cell enhancer ABC_E3600 Neighboring gene protein-tyrosine sulfotransferase 2 Neighboring gene tuftelin interacting protein 11 Neighboring gene coiled-coil domain containing 121, retrogene 3 Neighboring gene SRR1 domain containing Neighboring gene predicted gene 20636 Neighboring gene aspartate beta-hydroxylase domain containing 2 Neighboring gene seizure related 6 homolog like Neighboring gene coiled-coil domain containing 121, retrogene 2

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. Synthesis and secretion of kidney beta-galactosidase in mutant le/le mice. Meisler MH. J Biol Chem, 1978 May 10. PMID 417081
  2. The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis. Ohishi Y, et al. J Biol Chem, 2019 Apr 26. PMID 30837268, Free PMC Article
  3. Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism. Meisler M, et al. Am J Pathol, 1980 Dec. PMID 7446708, Free PMC Article
  4. VARP and Rab9 Are Dispensable for the Rab32/BLOC-3 Dependent Salmonella Killing. Balci A, et al. Front Cell Infect Microbiol, 2020. PMID 33392103, Free PMC Article
  5. Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles. Meisler MH, et al. J Hered, 1984 Mar-Apr. PMID 6232310

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. VARP and Rab9 Are Dispensable for the Rab32/BLOC-3 Dependent Salmonella Killing.
    Title: VARP and Rab9 Are Dispensable for the Rab32/BLOC-3 Dependent Salmonella Killing.
  2. results indicate that activation of Rab32/38 by HPS4 (or BLOC-3) is essential for melanogenesis of cultured melanocytes and that Rab9 likely regulates melanogenesis independently of HPS4
    Title: The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis.
  3. VAMP7 mediates fusion of BLOC-1-dependent transport carriers with melanosomes, illuminate SNARE recycling from melanosomes as a critical BLOC-3-dependent step.
    Title: BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Spontaneous (1)  1 citation
  • Targeted (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to guanyl-nucleotide exchange factor activity ISO
Inferred from Sequence Orthology
more info
  
contributes_to guanyl-nucleotide exchange factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein dimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables protein dimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within blood coagulation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in lysosome organization ISO
Inferred from Sequence Orthology
more info
  
involved_in lysosome organization ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
acts_upstream_of_or_within melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in melanosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in melanosome assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in melanosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
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 
involved_in platelet dense granule organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein stabilization ISO
Inferred from Sequence Orthology
more info
  
involved_in protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in protein targeting IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein targeting ISO
Inferred from Sequence Orthology
more info
  
involved_in protein targeting ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of BLOC-3 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of BLOC-3 complex ISO
Inferred from Sequence Orthology
more info
  
part_of BLOC-3 complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in melanosome ISO
Inferred from Sequence Orthology
more info
  
located_in melanosome ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in platelet dense granule IEA
Inferred from Electronic Annotation
more info
  
located_in platelet dense granule ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
BLOC-3 complex member HPS4
Names
Hermansky-Pudlak syndrome 4 homolog
hermansky-Pudlak syndrome 4 protein homolog
light ear
light-ear protein

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_001359853.1 → NP_001346782.1  BLOC-3 complex member HPS4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC123848, AK147954
    Consensus CDS
    CCDS19540.1
    UniProtKB/Swiss-Prot
    Q99KG7
    UniProtKB/TrEMBL
    Q3TAF8, Q541V2, Q6P568
    Related
    ENSMUSP00000107978.3, ENSMUST00000112359.9
    Conserved Domains (2) summary
    pfam19031
    Location:15 → 121
    Intu_longin_1; First Longin domain of INTU, CCZ1 and HPS4
    pfam19033
    Location:561 → 662
    Intu_longin_3; Intu longin-like domain 3

  2. NM_138646.3 → NP_619587.3  BLOC-3 complex member HPS4

    See identical proteins and their annotated locations for NP_619587.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK129418, BE626904, BY741149
    Consensus CDS
    CCDS19540.1
    UniProtKB/Swiss-Prot
    Q99KG7
    UniProtKB/TrEMBL
    Q3TAF8, Q541V2, Q6P568
    Related
    ENSMUSP00000047920.4, ENSMUST00000035279.4
    Conserved Domains (2) summary
    pfam19031
    Location:15 → 121
    Intu_longin_1; First Longin domain of INTU, CCZ1 and HPS4
    pfam19033
    Location:561 → 662
    Intu_longin_3; Intu longin-like domain 3

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_000071.7 Reference GRCm39 C57BL/6J

    Range
    112490849..112526290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006534832.4 → XP_006534895.1  BLOC-3 complex member HPS4 isoform X1

    See identical proteins and their annotated locations for XP_006534895.1

    UniProtKB/Swiss-Prot
    Q99KG7
    UniProtKB/TrEMBL
    Q3TAF8, Q541V2, Q6P568
    Related
    ENSMUST00000133708.2
    Conserved Domains (2) summary
    pfam19031
    Location:15 → 121
    Intu_longin_1; First Longin domain of INTU, CCZ1 and HPS4
    pfam19033
    Location:561 → 662
    Intu_longin_3; Intu longin-like domain 3

  2. XM_006534831.5 → XP_006534894.1  BLOC-3 complex member HPS4 isoform X1

    See identical proteins and their annotated locations for XP_006534894.1

    UniProtKB/Swiss-Prot
    Q99KG7
    UniProtKB/TrEMBL
    Q3TAF8, Q541V2, Q6P568
    Conserved Domains (2) summary
    pfam19031
    Location:15 → 121
    Intu_longin_1; First Longin domain of INTU, CCZ1 and HPS4
    pfam19033
    Location:561 → 662
    Intu_longin_3; Intu longin-like domain 3

  3. XM_030254211.2 → XP_030110071.1  BLOC-3 complex member HPS4 isoform X1

    UniProtKB/Swiss-Prot
    Q99KG7
    UniProtKB/TrEMBL
    Q3TAF8, Q541V2, Q6P568
    Conserved Domains (2) summary
    pfam19031
    Location:15 → 121
    Intu_longin_1; First Longin domain of INTU, CCZ1 and HPS4
    pfam19033
    Location:561 → 662
    Intu_longin_3; Intu longin-like domain 3

  4. XM_036164910.1 → XP_036020803.1  BLOC-3 complex member HPS4 isoform X1

    UniProtKB/Swiss-Prot
    Q99KG7
    UniProtKB/TrEMBL
    Q3TAF8, Q541V2, Q6P568
    Conserved Domains (2) summary
    pfam19031
    Location:15 → 121
    Intu_longin_1; First Longin domain of INTU, CCZ1 and HPS4
    pfam19033
    Location:561 → 662
    Intu_longin_3; Intu longin-like domain 3
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99KG7.2 GenPept UniProtKB/Swiss-Prot:Q99KG7

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