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

Gene ID: 78830, updated on 8-Jan-2023

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
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Genomic context

See Slc25a12 in Genome Data Viewer
Location:
2; 2 C2
Exon count:
20
Annotation release Status Assembly Chr Location
109 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_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 39576 Neighboring gene dynein cytoplasmic 1 intermediate chain 2 Neighboring gene 60S ribosomal protein L21 pseudogene Neighboring gene VISTA enhancer mm55 Neighboring gene histone aminotransferase 1 Neighboring gene nuclear protein-NHP2-like protein pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (2)  1 citation
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
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
 

General protein information

Preferred Names
electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial; calcium-binding mitochondrial carrier protein Aralar1
Names
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)

  1. NM_172436.5NP_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
    UniProtKB/TrEMBL
    A0A6P5RB00
    Related
    ENSMUSP00000122103.2, ENSMUST00000151937.8
    Conserved Domains (4) summary
    pfam00153
    Location:522609
    Mito_carr; Mitochondrial carrier protein
    cd15900
    Location:91115
    EFh_MICU; EF-hand motif [structural motif]
    cl25352
    Location:14119
    EFh_PEF; The penta-EF hand (PEF) family
    cl28896
    Location:91160
    EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    71104614..71198125 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030252254.1XP_030108114.1  calcium-binding mitochondrial carrier protein Aralar1 isoform X2

    Conserved Domains (1) summary
    pfam00153
    Location:347431
    Mito_carr; Mitochondrial carrier protein
  2. XM_011239853.4XP_011238155.1  calcium-binding mitochondrial carrier protein Aralar1 isoform X1

    Conserved Domains (3) summary
    cd15900
    Location:226
    EFh_MICU; EF-hand motif [structural motif]
    cl28896
    Location:271
    EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins
    pfam00153
    Location:430517
    Mito_carr; Mitochondrial carrier protein