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GEF1 Gef1p [ Saccharomyces cerevisiae S288C ]

Gene ID: 853497, updated on 9-Dec-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, Dec 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