Slc25a12
Gene Detail

Symbol Name ID

Slc25a12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 MGI:1926080

Synonyms

B230107K20Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 2

42.38 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr2:71271063-71367749 bp, - strand From VEGA annotation of GRCm38   96687 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:48235  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Slc25a12

Human homologs

Human Homolog		SLC25A12, solute carrier family 25 (aspartate/glutamate carrier), member 12
NCBI Gene ID		8604
neXtProt AC		NX_O75746
Human Synonyms		AGC1, ARALAR
Human Chr (Location)		2q24; chr2:172639915-172750816 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SLC25A12

Alleles and phenotypes

All alleles(122) : Gene trapped(122)
 

Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels.

 

Gene Ontology (GO) classifications

All GO classifications: (19 annotations)

Process	amino acid transmembrane transport, aspartate transport, ...
Component	integral to membrane, membrane, ...
Function	calcium ion binding, L-aspartate transmembrane transporter activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (10)    Tissues (5)    Images (6)
Theiler Stages: 23, 24, 26, 28

Assay Type	Results
RNA in situ	10

cDNA source data(11)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(13) cDNA(12) Primer pair(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000013185 (Evidence)
Ensembl Gene Model	ENSMUSG00000027010 (Evidence)
Entrez Gene	78830 (Evidence)
DFCI	TC1575716, TC1607485, TC1717817
DoTS	DT.101151232, DT.40164755, DT.40181348, DT.87069150, DT.94180826
NIA Mouse Gene Index	U022726, U022727
Consensus CDS Project	CCDS16113.1
International Mouse Knockout Project Status	Slc25a12

Sequences

Length	Strain/Species
genomic	OTTMUSG00000013185	VEGA Gene Model | MGI Sequence Detail	96687	C57BL/6J
transcript	OTTMUST00000031854	VEGA | MGI Sequence Detail	6351	Not Applicable
polypeptide	OTTMUSP00000014191	VEGA | MGI Sequence Detail	677	Not Applicable

All sequences(60) RefSeq(2) UniProt(1)

Polymorphisms

SNPs within 2kb(1231 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR018247	EF-Hand 1, calcium-binding site
InterPro	IPR002048	EF-hand domain
InterPro	IPR011992	EF-hand-like domain
InterPro	IPR023395	Mitochondrial carrier domain
InterPro	IPR002067	Mitochondrial carrier protein
InterPro	IPR018108	Mitochondrial substrate/solute carrier
Protein Ontology	PR:000015007	calcium-binding mitochondrial carrier protein Aralar1

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:193095 Llorente-Folch I, et al., AGC1-malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway. J Neurochem. 2013 Feb;124(3):347-62
All references(41)

Other accession IDs

MGI:2139062, MGI:2139433