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

Summary

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. Involved in gluconeogenesis. Acts upstream of or within aspartate transmembrane transport and malate-aspartate shuttle. Located in mitochondrion. Is active in mitochondrial inner membrane. 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, Nov 2024]
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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (8) 1 citation
Gene trapped (1) 1 citation
Spontaneous (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127277 (e-PCR)
- UniSTS:167488

AW108044 (e-PCR)
- UniSTS:179331

AI785475 (e-PCR)
- UniSTS:164309

Slc25a13 (e-PCR), detects polymorphism
- UniSTS:547036

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 3-sulfino-L-alanine: proton, glutamate antiporter activity	ISS Inferred from Sequence or Structural Similarity 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 aspartate:glutamate, proton antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
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 L-glutamate transmembrane transport	ISS Inferred from Sequence or Structural Similarity 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 neutral amino acid transport	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	ISO Inferred from Sequence Orthology more info
involved_in response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	HDA more info	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 more info	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)

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

Status: VALIDATED

Source sequence(s)

AC023175, AC091396
NM_001410675.1 → NP_001397604.1 electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 4

Status: VALIDATED

Source sequence(s)

AC023175, AC091396
NM_001410676.1 → NP_001397605.1 electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 5

Status: VALIDATED

Source sequence(s)

AC023175, AC091396
NM_001410677.1 → NP_001397606.1 electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 6

Status: VALIDATED

Source sequence(s)

AC091396
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

NC_000072.7 Reference GRCm39 C57BL/6J

Range

6041218..6217304 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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