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    HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [ Bos taurus (domestic cattle) ]

    Gene ID: 515531, updated on 30-Jan-2025

    Summary

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    Official Symbol
    HPS1provided by VGNC
    Official Full Name
    HPS1 biogenesis of lysosomal organelles complex 3 subunit 1provided by VGNC
    Primary source
    VGNC:VGNC:29943
    See related
    BGD:BT17623; EnsemblRapid:ENSBTAG00070028762
    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 HPS1 in Genome Data Viewer
    Location:
    chromosome: 26
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_12 current ARS-UCD2.0 (GCF_002263795.3) 26 NC_037353.1 (19496150..19521541, complement)

    Chromosome 26 - NC_037353.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112444518 Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 2 Neighboring gene microRNA mir-1287 Neighboring gene uncharacterized LOC112444538 Neighboring gene heparanase 2 (inactive) Neighboring gene uncharacterized LOC132343945

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_037353.1 Chromosome 26 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. Sequence evaluation of four pooled-tissue normalized bovine cDNA libraries and construction of a gene index for cattle. Smith TP, et al. Genome Res, 2001 Apr. PMID 11282978, Free PMC Article
    2. Characterization of 954 bovine full-CDS cDNA sequences. Harhay GP, et al. BMC Genomics, 2005 Nov 23. PMID 16305752, Free PMC Article
    3. A whole-genome assembly of the domestic cow, Bos taurus. Zimin AV, et al. Genome Biol, 2009. PMID 19393038, Free PMC Article
    4. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    5. 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

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in melanosome assembly IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BLOC-3 complex IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BLOC-3 complex member HPS1
    Names
    Hermansky-Pudlak syndrome 1 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_001075716.1 → NP_001069184.1  BLOC-3 complex member HPS1

      See identical proteins and their annotated locations for NP_001069184.1

      Status: PROVISIONAL

      Source sequence(s)
      BC123790
      UniProtKB/TrEMBL
      A0AAF6DM55, Q08DE7
      Related
      ENSBTAP00070041385.1, ENSBTAT00070067781.1

    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_037353.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      19496150..19521541 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_010819893.4 → XP_010818195.2  BLOC-3 complex member HPS1 isoform X1

      UniProtKB/TrEMBL
      A0AAF6DM55, E1B7M9, F1N5F1, Q0V7N9
      Related
      ENSBTAP00070041296.1, ENSBTAT00070067633.1

    2. XM_005225538.5 → XP_005225595.2  BLOC-3 complex member HPS1 isoform X1

      UniProtKB/TrEMBL
      A0AAF6DM55, E1B7M9, F1N5F1, Q0V7N9

    3. XM_059881854.1 → XP_059737837.1  BLOC-3 complex member HPS1 isoform X1

      UniProtKB/TrEMBL
      A0AAF6DM55, E1B7M9, F1N5F1, Q0V7N9

    4. XM_059881855.1 → XP_059737838.1  BLOC-3 complex member HPS1 isoform X1

      UniProtKB/TrEMBL
      A0AAF6DM55, E1B7M9, F1N5F1, Q0V7N9

    5. XM_024985615.2 → XP_024841383.1  BLOC-3 complex member HPS1 isoform X2

    6. XM_005225540.5 → XP_005225597.2  BLOC-3 complex member HPS1 isoform X3

    Nucleotide Protein Strain
    Heading Accession and Version

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