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    hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [ Danio rerio (zebrafish) ]

    Gene ID: 393296, updated on 9-Dec-2024

    Summary

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    Official Symbol
    hps4provided by ZNC
    Official Full Name
    HPS4 biogenesis of lysosomal organelles complex 3 subunit 2provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040426-1068
    See related
    Ensembl:ENSDARG00000013795 AllianceGenome:ZFIN:ZDB-GENE-040426-1068
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:56538
    Summary
    Predicted to enable small GTPase binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in melanosome assembly and protein targeting. Predicted to act upstream of or within vesicle-mediated transport. Predicted to be part of BLOC-3 complex. Predicted to be active in cytoplasmic vesicle and lysosomal membrane. 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, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See hps4 in Genome Data Viewer
    Location:
    chromosome: 8
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 8 NC_007119.7 (39767889..39792363)
    105 previous assembly GRCz10 (GCF_000002035.5) 8 NC_007119.6 (39734157..39758581)

    Chromosome 8 - NC_007119.7Genomic Context describing neighboring genes Neighboring gene si:ch211-170d8.8 Neighboring gene cytochrome c oxidase subunit 6A1 Neighboring gene si:ch211-170d8.2 Neighboring gene HNF1 homeobox a Neighboring gene zgc:162025

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model. Schenk H, et al. Sci Rep, 2019 Nov 27. PMID 31776394, Free PMC Article
    2. Codon identity regulates mRNA stability and translation efficiency during the maternal-to-zygotic transition. Bazzini AA, et al. EMBO J, 2016 Oct 4. PMID 27436874, Free PMC Article
    3. Genetic characterization and in vivo image analysis of novel zebrafish Danio rerio pigment mutants. Hsu CC, et al. J Fish Biol, 2013 May. PMID 23639161
    4. Gene expression profiling of zebrafish embryonic retinal pigment epithelium in vivo. Leung YF, et al. Invest Ophthalmol Vis Sci, 2007 Feb. PMID 17251491, Free PMC Article
    5. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Clone Names

    • MGC56538

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    contributes_to guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in melanosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein targeting IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within 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
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BLOC-3 complex member HPS4
    Names
    Hermansky-Pudlak syndrome 4

    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_200326.1 → NP_956620.1  BLOC-3 complex member HPS4

      See identical proteins and their annotated locations for NP_956620.1

      Status: PROVISIONAL

      Source sequence(s)
      BC052117
      UniProtKB/TrEMBL
      Q7ZTX8
      Related
      ENSDARP00000012323.7, ENSDART00000017153.8
      Conserved Domains (2) summary
      pfam08217
      Location:15 → 127
      DUF1712; Fungal domain of unknown function (DUF1712)
      pfam03207
      Location:337 → 477
      OspD; Borrelia outer surface protein D (OspD)

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007119.7 Reference GRCz11 Primary Assembly

      Range
      39767889..39792363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068222895.1 → XP_068078996.1  BLOC-3 complex member HPS4 isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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