Slc25a12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc25a12provided by MGI
Official Full Name: solute carrier family 25 (mitochondrial carrier, Aralar), member 12provided by MGI
Primary source: MGI:MGI:1926080
See related: Ensembl:ENSMUSG00000027010 AllianceGenome:MGI:1926080
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: 2610002D09Rik; B230107K20Rik
Summary: Predicted to enable acidic amino acid transmembrane transporter activity; calcium ion binding activity; and identical protein binding activity. Acts upstream of or within malate-aspartate shuttle. Located in mitochondrion. Is expressed in central nervous system; embryo; and retina. Used to study developmental and epileptic encephalopathy 39. Human ortholog(s) of this gene implicated in Asperger syndrome; autistic disorder; and developmental and epileptic encephalopathy 39. Orthologous to human SLC25A12 (solute carrier family 25 member 12). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 17.8), cerebellum adult (RPKM 11.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C2; 2 42.38 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (71104614..71198125, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (71274270..71367781, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial movement in Aralar/Slc25a12/AGC1 deficient cortical neurons.
Title: Mitochondrial movement in Aralar/Slc25a12/AGC1 deficient cortical neurons.
AGC1 impairment alters myelination not only by acting on N-acetyl-aspartate production in neurons but also on Oligodendrocyte Precursor Cell proliferation.
Title: Deficiency of Mitochondrial Aspartate-Glutamate Carrier 1 Leads to Oligodendrocyte Precursor Cell Proliferation Defects Both In Vitro and In Vivo.
Muller glia compensate for their unique metabolic adaptations by using lactate and aspartate from neurons as surrogates for their missing PK and AGC1.
Title: Pyruvate kinase and aspartate-glutamate carrier distributions reveal key metabolic links between neurons and glia in retina.
Aralar protein & mRNA expressions were the same in adult neurons & astrocytes, whole brain,& well-differentiated astrocyte cultures, but not until late development, like the late-maturing brain ability to form & degrade glutamate.
Title: Aralar mRNA and protein levels in neurons and astrocytes freshly isolated from young and adult mouse brain and in maturing cultured astrocytes.
Aralar-knockout postnatal mice show hyperactivity, anxiety-like behavior, and hyperreactivity with a decrease of dopamine (DA) in terminal-rich regions.
Title: AGC1-malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway.
Postnatal Electrophysiological Development Is Arrested in Aralar-Knockout Mice.
Title: Altered postnatal development of cortico-hippocampal neuronal electric activity in mice deficient for the mitochondrial aspartate-glutamate transporter.
the primary defect of pyramidal neurons in cerebral cortex is possibly associated with a progressive failure in glutamatergic neurotransmission and may be among the main causes of the pathology of aralar/AGC1 deficiency.
Title: Deficiency of the mitochondrial transporter of aspartate/glutamate aralar/AGC1 causes hypomyelination and neuronal defects unrelated to myelin deficits in mouse brain.
Aralar1 was clearly separated, unambiguously identified and characterized from protein extracts of mouse hippocampus by the use of the multidimensional gel electrophoretic steps.
Title: Mass spectrometrical analysis of the mitochondrial carrier Aralar1 from mouse hippocampus.
Slc25a12-knockout mice, which showed no AGC1 by immunoblotting but displayed delayed development and died around 3 weeks after birth. In postnatal day 13 to 14 knockout brains, the brains were smaller with no obvious alteration in gross structure.
Title: Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders.
a possible role for aralar and MAS in priming the beta-cell by Ca2+-mobilizing neurotransmitter or hormones.
Title: Requirement for aralar and its Ca2+-binding sites in Ca2+ signal transduction in mitochondria from INS-1 clonal beta-cells.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI839531 (e-PCR)
- UniSTS:164165

BB129864 (e-PCR)
- UniSTS:185479

RH139242 (e-PCR)
- UniSTS:221328

Slc25a12 (e-PCR), detects polymorphism
- UniSTS:547035

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 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 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
involved_in aspartate transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in glutamate biosynthetic process	ISO Inferred from Sequence Orthology more info
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 negative regulation of glucose catabolic process to lactate via pyruvate	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ATP biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of glucose metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of myelination	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 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
located_in myelin sheath	HDA more info	PubMed

General protein information

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Preferred Names: electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial

Names: calcium-binding mitochondrial carrier protein Aralar1; mitochondrial aspartate glutamate carrier 1

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_172436.5 → NP_766024.1 electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial

See identical proteins and their annotated locations for NP_766024.1

Status: VALIDATED

Source sequence(s)

BX284624

Consensus CDS

CCDS16113.1

UniProtKB/Swiss-Prot

A2BFG0, Q8BH59

Related

ENSMUSP00000122103.2, ENSMUST00000151937.8

Conserved Domains (4) summary

pfam00153
Location:522 → 609

Mito_carr; Mitochondrial carrier protein

cd15900
Location:91 → 115

EFh_MICU; EF-hand motif [structural motif]

cl25352
Location:14 → 119

EFh_PEF; The penta-EF hand (PEF) family

cl28896
Location:91 → 160

EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins

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_000068.8 Reference GRCm39 C57BL/6J

Range

71104614..71198125 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252254.1 → XP_030108114.1 electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial isoform X2

Conserved Domains (1) summary

pfam00153
Location:347 → 431

Mito_carr; Mitochondrial carrier protein
XM_011239853.4 → XP_011238155.1 electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial isoform X1

Conserved Domains (3) summary

cd15900
Location:2 → 26

EFh_MICU; EF-hand motif [structural motif]

cl28896
Location:2 → 71

EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins

pfam00153
Location:430 → 517

Mito_carr; Mitochondrial carrier protein