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Slc25a13 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13 [ Mus musculus (house mouse) ]

Gene ID: 50799, updated on 21-Apr-2024

Summary

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Official Symbol
Slc25a13provided by MGI
Official Full Name
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13provided by MGI
Primary source
MGI:MGI:1354721
See related
Ensembl:ENSMUSG00000015112 AllianceGenome:MGI:1354721
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ctrn
Summary
Enables L-glutamate transmembrane transporter activity. Acts upstream of or within aspartate transmembrane transport and malate-aspartate shuttle. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; lung; and nose. Used to study citrullinemia. Human ortholog(s) of this gene implicated in adult-onset type II citrullinemia and neonatal-onset type II citrullinemia. Orthologous to human SLC25A13 (solute carrier family 25 member 13). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver E18 (RPKM 28.1), liver adult (RPKM 15.6) and 12 other tissues See more
Orthologs
human all
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Genomic context

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Location:
6 A1; 6 2.3 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (6041218..6217304, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (6041218..6217304, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 1 intermediate chain 1 Neighboring gene STARR-seq mESC enhancer starr_15057 Neighboring gene STARR-seq mESC enhancer starr_15058 Neighboring gene predicted gene, 34527 Neighboring gene STARR-seq mESC enhancer starr_15059 Neighboring gene RIKEN cDNA 1700019G24 gene Neighboring gene STARR-seq mESC enhancer starr_15060 Neighboring gene STARR-seq mESC enhancer starr_15067 Neighboring gene STARR-seq mESC enhancer starr_15070 Neighboring gene STARR-seq mESC enhancer starr_15079 Neighboring gene STARR-seq mESC enhancer starr_15081 Neighboring gene STARR-seq mESC enhancer starr_15083 Neighboring gene predicted gene 20619 Neighboring gene STARR-seq mESC enhancer starr_15084 Neighboring gene predicted gene, 34749 Neighboring gene predicted gene 8649

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. A novel genetic locus linked to pro-inflammatory cytokines after virulent H5N1 virus infection in mice. Boon AC, et al. BMC Genomics, 2014 Nov 24. PMID 25418976, Free PMC Article
  2. Low levels of citrin (SLC25A13) expression in adult mouse brain restricted to neuronal clusters. Contreras L, et al. J Neurosci Res, 2010 Apr. PMID 19908284
  3. Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model. Saheki T, et al. Sci Rep, 2019 Mar 12. PMID 30862943, Free PMC Article
  4. Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency. Saheki T, et al. Mol Genet Metab, 2017 Apr. PMID 28259708
  5. Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency. Moriyama M, et al. Biochim Biophys Acta, 2015 Sep. PMID 25952905

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. hepatic metabolite perturbations in citrin-mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency
    Title: Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency.
  2. The results support the notion that glial cells have much lower AGC levels and MAS activity than neurons
    Title: Low levels of citrin (SLC25A13) expression in adult mouse brain restricted to neuronal clusters.
  3. phenotypic analysis of citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice
    Title: Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.
  4. Aralar and citrin, when expressed as single isoforms in heart, confer differences in Ca(2+) activation of shuttle activity, probably associated with their structural differences.
    Title: Ca2+ Activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: role in the heart malate-aspartate NADH shuttle.
  5. To investigate the physiological role of citrin and the development of CTLN2 (adult-onset type II citrullinemia), an Slc25a13-knockout mouse model was created.
    Title: Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
  6. Expression of the aspartate/glutamate mitochondrial carriers aralar1 and citrin during development(CITRIN)
    Title: Expression of the aspartate/glutamate mitochondrial carriers aralar1 and citrin during development and in adult rat tissues.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 3-sulfino-L-alanine: proton, glutamate antiporter activity ISO
Inferred from Sequence Orthology
more info
  
enables L-aspartate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-glutamate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables acidic amino acid transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables acidic amino acid transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
  
enables aspartate:glutamate, proton antiporter activity ISO
Inferred from Sequence Orthology
more info
  
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in ATP biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in L-glutamate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in L-glutamate transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in aspartate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within aspartate transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in aspartate transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular respiration ISO
Inferred from Sequence Orthology
more info
  
involved_in gluconeogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in malate-aspartate shuttle IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within malate-aspartate shuttle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in malate-aspartate shuttle ISO
Inferred from Sequence Orthology
more info
  
involved_in response to calcium ion ISO
Inferred from Sequence Orthology
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial inner membrane HDA PubMed 
is_active_in mitochondrial inner membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in mitochondrion HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial
Names
calcium-binding mitochondrial carrier protein Aralar2
citrin
mitochondrial aspartate glutamate carrier 2
solute carrier family 25, member 13

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_001177572.2 → NP_001171043.1  electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001171043.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC023175, AC091396
    UniProtKB/TrEMBL
    Q8C140
    Conserved Domains (4) summary
    PTZ00168
    Location:327 → 585
    PTZ00168; mitochondrial carrier protein; Provisional
    pfam00153
    Location:516 → 608
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:17 → 81
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:19 → 81
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

  2. NM_001410674.1 → NP_001397603.1  electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC023175, AC091396

  3. NM_001410675.1 → NP_001397604.1  electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC023175, AC091396

  4. NM_001410676.1 → NP_001397605.1  electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC023175, AC091396

  5. NM_001410677.1 → NP_001397606.1  electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC091396

  6. NM_015829.4 → NP_056644.1  electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_056644.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC023175, AC091396
    Consensus CDS
    CCDS39421.1
    UniProtKB/Swiss-Prot
    Q9CZF6, Q9DCF5, Q9QXX4
    Related
    ENSMUSP00000015256.9, ENSMUST00000015256.15
    Conserved Domains (4) summary
    PTZ00168
    Location:328 → 586
    PTZ00168; mitochondrial carrier protein; Provisional
    pfam00153
    Location:517 → 609
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:17 → 81
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:19 → 81
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    6041218..6217304 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006505137.4 → XP_006505200.1  electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform X3

    Conserved Domains (4) summary
    cd15897
    Location:57 → 92
    EFh_PEF; EF-hand motif [structural motif]
    cl25352
    Location:54 → 187
    EFh_PEF; The penta-EF hand (PEF) family
    pfam00153
    Location:330 → 422
    Mito_carr; Mitochondrial carrier protein
    pfam13499
    Location:18 → 81
    EF-hand_7; EF-hand domain pair
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9QXX4.1 GenPept UniProtKB/Swiss-Prot:Q9QXX4

Gene LinkOut

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