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    HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 [ Bos taurus (domestic cattle) ]

    Gene ID: 783104, updated on 1-Jan-2025

    Summary

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    Official Symbol
    HPS3provided by VGNC
    Official Full Name
    HPS3 biogenesis of lysosomal organelles complex 2 subunit 1provided by VGNC
    Primary source
    VGNC:VGNC:29944
    See related
    BGD:BT23719; Ensembl:ENSBTAG00000002395
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Orthologs
    human mouse all
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    Genomic context

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    See HPS3 in Genome Data Viewer
    Location:
    chromosome: 1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_12 current ARS-UCD2.0 (GCF_002263795.3) 1 NC_037328.1 (119005048..119046092, complement)

    Chromosome 1 - NC_037328.1Genomic Context describing neighboring genes Neighboring gene ceruloplasmin and hephaestin like 1 Neighboring gene transfer RNA serine (anticodon AGA) Neighboring gene transfer RNA glycine (anticodon CCC) Neighboring gene ceruloplasmin Neighboring gene small ribosomal subunit protein eS6-like Neighboring gene helicase like transcription factor Neighboring gene glycogenin 1

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_037328.1 Chromosome 1 Reference ARS-UCD2.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Dominette sequence data
    • BioProject: PRJNA294306
    • Analysis date: Tue Dec 17 08:57:05 2024

    Bibliography

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    Related articles in PubMed

    1. A whole-genome assembly of the domestic cow, Bos taurus. Zimin AV, et al. Genome Biol, 2009. PMID 19393038, Free PMC Article
    2. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Process Evidence Code Pubs
    involved_in organelle organization IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BLOC-2 complex IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BLOC-2 complex member HPS3

    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_001191177.2 → NP_001178106.1  BLOC-2 complex member HPS3

      See identical proteins and their annotated locations for NP_001178106.1

      Status: PROVISIONAL

      Source sequence(s)
      NKLS02000001
      UniProtKB/TrEMBL
      A0A3Q1LWH1, E1BPH4
      Related
      ENSBTAP00000003112.5, ENSBTAT00000003112.7
      Conserved Domains (3) summary
      pfam14761
      Location:3 → 212
      HPS3_N; Hermansky-Pudlak syndrome 3
      pfam14762
      Location:255 → 638
      HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
      pfam14763
      Location:652 → 1001
      HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2024_12

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

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037328.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      119005048..119046092 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024992800.2 → XP_024848568.1  BLOC-2 complex member HPS3 isoform X2

      UniProtKB/TrEMBL
      A0A3Q1LWH1
      Conserved Domains (3) summary
      pfam14761
      Location:3 → 212
      HPS3_N; Hermansky-Pudlak syndrome 3
      pfam14762
      Location:255 → 558
      HPS3_Mid; Hermansky-Pudlak syndrome 3, middle region
      pfam14763
      Location:573 → 922
      HPS3_C; Hermansky-Pudlak syndrome 3, C-terminal

    2. XM_059887141.1 → XP_059743124.1  BLOC-2 complex member HPS3 isoform X1

      UniProtKB/TrEMBL
      A0A3Q1MWZ7
      Related
      ENSBTAP00000061581.2, ENSBTAT00000075485.2

    3. XM_059887142.1 → XP_059743125.1  BLOC-2 complex member HPS3 isoform X3

      UniProtKB/TrEMBL
      A0A3Q1MWZ7
    Nucleotide Protein Strain
    Heading Accession and Version

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