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    BPH1 Bph1p [ Saccharomyces cerevisiae S288C ]

    Gene ID: 850398, updated on 9-Dec-2024

    Summary

    Official Symbol
    BPH1
    Official Full Name
    Bph1p
    Primary source
    SGD:S000000628
    Locus tag
    YCR032W
    See related
    AllianceGenome:SGD:S000000628; FungiDB:YCR032W; VEuPathDB:YCR032W
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Saccharomyces cerevisiae S288C (strain: S288C)
    Lineage
    Eukaryota; Fungi; Dikarya; Ascomycota; Saccharomycotina; Saccharomycetes; Saccharomycetales; Saccharomycetaceae; Saccharomyces
    Summary
    Enables small GTPase binding activity. Involved in several processes, including fungal-type cell wall organization; intracellular protein transport; and response to pH. Acts upstream of or within protein lipidation. Located in cytosol. Is active in late endosome. Used to study Chediak-Higashi syndrome. Human ortholog(s) of this gene implicated in Chediak-Higashi syndrome and primary autosomal dominant microcephaly 18. Orthologous to several human genes including WDFY4 (WDFY family member 4). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

    See BPH1 in Genome Data Viewer
    Location:
    chromosome: III
    Exon count:
    1
    Sequence:
    Chromosome: III; NC_001135.5 (179520..186023)

    Chromosome III - NC_001135.5Genomic Context describing neighboring genes Neighboring gene ribosomal 40S subunit protein S14A Neighboring gene ncRNA Neighboring gene Snt1p Neighboring gene fatty acid elongase ELO2

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    Bph1p
    NP_009961.2
    • Endosomal protein involved in endocytosis and autophagy; homologous to Chediak-Higashi syndrome and Beige proteins, both of which are implicated in disease syndromes in human and mouse, respectively, due to defective lysosomal trafficking; mutant phenotype and genetic interactions suggest a role in protein sorting

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_001135.5 Reference assembly

      Range
      179520..186023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178746.1NP_009961.2  TPA: Bph1p [Saccharomyces cerevisiae S288C]

      See identical proteins and their annotated locations for NP_009961.2

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      D6VR42, P25356, Q02396, Q07348
      UniProtKB/TrEMBL
      C8Z4C2
      Conserved Domains (3) summary
      smart01026
      Location:15581839
      Beach; Beige/BEACH domain
      cd01201
      Location:13711500
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      sd00039
      Location:19331976
      7WD40; WD40 repeat [structural motif]