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    AGC1 citrin [ Saccharomyces cerevisiae S288C ]

    Gene ID: 856132, updated on 9-Dec-2024

    Summary

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    Official Symbol
    AGC1
    Official Full Name
    citrin
    Primary source
    SGD:S000006225
    Locus tag
    YPR021C
    See related
    AllianceGenome:SGD:S000006225; FungiDB:YPR021C; VEuPathDB:YPR021C
    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 acidic amino acid transmembrane transporter activity and secondary active transmembrane transporter activity. Involved in L-glutamate transmembrane transport; aspartate transmembrane transport; and biosynthetic process. Located in vacuole-mitochondrion membrane contact site. Used to study citrullinemia; common bile duct disease; and intrahepatic cholestasis. Human ortholog(s) of this gene implicated in Asperger syndrome; adult-onset type II citrullinemia; autistic disorder; developmental and epileptic encephalopathy 39; and neonatal-onset type II citrullinemia. Orthologous to human SLC25A12 (solute carrier family 25 member 12) and SLC25A13 (solute carrier family 25 member 13). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See AGC1 in Genome Data Viewer
    Location:
    chromosome: XVI
    Exon count:
    1
    Sequence:
    Chromosome: XVI; NC_001148.4 (600649..603357, complement)

    Chromosome XVI - NC_001148.4Genomic Context describing neighboring genes Neighboring gene MCM DNA helicase complex subunit MCM4 Neighboring gene F1F0 ATP synthase subunit g Neighboring gene Sdd4p Neighboring gene Eaf3p

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_001148.4

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Zhang ZH, et al. PLoS One, 2014. PMID 24586645, Free PMC Article
    2. Identification and metabolic role of the mitochondrial aspartate-glutamate transporter in Saccharomyces cerevisiae. Cavero S, et al. Mol Microbiol, 2003 Nov. PMID 14622413
    3. Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. Zeng HS, et al. Int J Mol Med, 2014 Nov. PMID 25216257, Free PMC Article
    4. Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency. Wongkittichote P, et al. J Inherit Metab Dis, 2013 Sep. PMID 23053473
    5. Molecular identification and functional characterization of a novel glutamate transporter in yeast and plant mitochondria. Porcelli V, et al. Biochim Biophys Acta Bioenerg, 2018 Nov. PMID 30297026

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p
      Title: Overexpression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by SGD

    Function Evidence Code Pubs
    enables L-aspartate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-aspartate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-glutamate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-glutamate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables uniporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-aspartate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-glutamate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in amino acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aspartate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in malate-aspartate shuttle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in vacuole-mitochondrion membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    citrin
    NP_015346.1
    • Mitochondrial amino acid transporter; acts both as a glutamate uniporter and as an aspartate-glutamate exchanger; involved in nitrogen metabolism and nitrogen compound biosynthesis; human homolog SLC25A13 complements yeast null mutant

    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_001148.4 Reference assembly

      Range
      600649..603357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184118.1 → NP_015346.1  TPA: citrin [Saccharomyces cerevisiae S288C]

      See identical proteins and their annotated locations for NP_015346.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      D6W431, Q12482
      UniProtKB/TrEMBL
      A6ZWR4, B3LL82, N1P205
      Conserved Domains (1) summary
      pfam00153
      Location:723 → 814
      Mito_carr; Mitochondrial carrier protein
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12482.1

    Gene LinkOut

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