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    GEF1 Gef1p [ Saccharomyces cerevisiae S288C ]

    Gene ID: 853497, updated on 28-Oct-2024

    Summary

    Official Symbol
    GEF1
    Official Full Name
    Gef1p
    Primary source
    SGD:S000003801
    Locus tag
    YJR040W
    See related
    AllianceGenome:SGD:S000003801; FungiDB:YJR040W; VEuPathDB:YJR040W
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Saccharomyces cerevisiae S288C (strain: S288C)
    Lineage
    Eukaryota; Fungi; Dikarya; Ascomycota; Saccharomycotina; Saccharomycetes; Saccharomycetales; Saccharomycetaceae; Saccharomyces
    Also known as
    CLC
    Summary
    Enables voltage-gated chloride channel activity. Involved in intracellular copper ion homeostasis and intracellular iron ion homeostasis. Located in several cellular components, including Golgi medial cisterna; endosome; and fungal-type vacuole. Used to study Dent disease and osteopetrosis. Human ortholog(s) of this gene implicated in Raynaud-Claes syndrome; X-linked recessive hypophosphatemic rickets; and renal tubular transport disease (multiple). Orthologous to human CLCN3 (chloride voltage-gated channel 3); CLCN4 (chloride voltage-gated channel 4); and CLCN5 (chloride voltage-gated channel 5). [provided by Alliance of Genome Resources, Oct 2024]
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    Genomic context

    See GEF1 in Genome Data Viewer
    Location:
    chromosome: X
    Exon count:
    1
    Sequence:
    Chromosome: X; NC_001142.9 (507746..510085)

    Chromosome X - NC_001142.9Genomic Context describing neighboring genes Neighboring gene putative E3 ubiquitin-protein ligase HUL4 Neighboring gene Mlo127p Neighboring gene Urb2p Neighboring gene Nup85p

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by SGD

    Function Evidence Code Pubs
    enables chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables voltage-gated chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables voltage-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables voltage-gated chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular copper ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular iron ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi medial cisterna IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in fungal-type vacuole IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in fungal-type vacuole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    Gef1p
    NP_012574.1
    • Voltage-gated chloride channel; localized to the golgi, the endosomal system, and plasma membrane; involved in cation homeostasis; highly homologous to vertebrate voltage-gated chloride channels; modulates TBSV model (+) RNA virus replication by regulating copper metabolism

    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_001142.9 Reference assembly

      Range
      507746..510085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001181698.1NP_012574.1  TPA: Gef1p [Saccharomyces cerevisiae S288C]

      See identical proteins and their annotated locations for NP_012574.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      D6VWL1, P37020
      UniProtKB/TrEMBL
      C7GTC0, G2WH44, N1P1J0
      Conserved Domains (2) summary
      cd03684
      Location:83569
      ClC_3_like; ClC-3-like chloride channel proteins. This CD includes ClC-3, ClC-4, ClC-5 and ClC-Y1. ClC-3 was initially cloned from rat kidney. Expression of ClC-3 produces outwardly-rectifying Cl currents that are inhibited by protein kinase C activation. It has ...
      cd04591
      Location:586736
      CBS_pair_voltage-gated_CLC_euk_bac; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the voltage gated CLC (chloride channel) in eukaryotes and bacteria