Human Gene SLC25A12 (ENST00000422440.7_7) from GENCODE V47lift37
  Description: solute carrier family 25 member 12, transcript variant 2 (from RefSeq NR_047549.2)
Gencode Transcript: ENST00000422440.7_7
Gencode Gene: ENSG00000115840.14_18
Transcript (Including UTRs)
   Position: hg19 chr2:172,639,915-172,750,754 Size: 110,840 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr2:172,641,784-172,750,724 Size: 108,941 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:172,639,915-172,750,754)mRNA (may differ from genome)Protein (678 aa)
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-  Comments and Description Text from UniProtKB
  ID: CMC1_HUMAN
DESCRIPTION: RecName: Full=Calcium-binding mitochondrial carrier protein Aralar1; AltName: Full=Mitochondrial aspartate glutamate carrier 1; AltName: Full=Solute carrier family 25 member 12;
FUNCTION: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: High levels in heart and skeletal muscle, low in brain and very low in kidney.
DISEASE: Defects in SLC25A12 are the cause of global cerebral hypomyelination (GCHM) [MIM:612949]. A disorder with onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected.
MISCELLANEOUS: Binds calcium.
SIMILARITY: Belongs to the mitochondrial carrier family.
SIMILARITY: Contains 4 EF-hand domains.
SIMILARITY: Contains 3 Solcar repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC25A12
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 39* (1680), asperger syndrome (10), autism spectrum disorder (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.70 RPKM in Muscle - Skeletal
Total median expression: 640.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.2030-0.207 Picture PostScript Text
3' UTR -473.701869-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR002067 - Mit_carrier
IPR018108 - Mitochondrial_sb/sol_carrier
IPR023395 - Mt_carrier_dom

Pfam Domains:
PF00153 - Mitochondrial carrier protein

SCOP Domains:
47473 - EF-hand
103506 - Mitochondrial carrier

ModBase Predicted Comparative 3D Structure on O75746
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005313 L-glutamate transmembrane transporter activity
GO:0005509 calcium ion binding
GO:0015172 acidic amino acid transmembrane transporter activity
GO:0015183 L-aspartate transmembrane transporter activity
GO:0046872 metal ion binding

Biological Process:
GO:0006094 gluconeogenesis
GO:0015810 aspartate transport
GO:0015813 L-glutamate transport
GO:0043490 malate-aspartate shuttle
GO:0051592 response to calcium ion
GO:0055085 transmembrane transport
GO:0070778 L-aspartate transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043209 myelin sheath


-  Descriptions from all associated GenBank mRNAs
  BC016932 - Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12, mRNA (cDNA clone MGC:21311 IMAGE:4420100), complete cds.
AJ496568 - Homo sapiens mRNA for mitochondrial aspartate-glutamate carrier protein (SLC25A12 gene).
JD237279 - Sequence 218303 from Patent EP1572962.
JD356858 - Sequence 337882 from Patent EP1572962.
JD376635 - Sequence 357659 from Patent EP1572962.
JD233322 - Sequence 214346 from Patent EP1572962.
JD327390 - Sequence 308414 from Patent EP1572962.
JD265582 - Sequence 246606 from Patent EP1572962.
JD313195 - Sequence 294219 from Patent EP1572962.
AK091071 - Homo sapiens cDNA FLJ33752 fis, clone BRCAN2000364, highly similar to Calcium-binding mitochondrial carrier protein Aralar1.
Y14494 - Homo sapiens mRNA for mitochondrial carrier protein ARALAR1.
AK054941 - Homo sapiens cDNA FLJ30379 fis, clone BRACE2008008.
AK022828 - Homo sapiens cDNA FLJ12766 fis, clone NT2RP2001520, highly similar to Calcium-binding mitochondrial carrier protein Aralar1.
JD275426 - Sequence 256450 from Patent EP1572962.
JD298664 - Sequence 279688 from Patent EP1572962.
JD188016 - Sequence 169040 from Patent EP1572962.
JD542018 - Sequence 523042 from Patent EP1572962.
JD074758 - Sequence 55782 from Patent EP1572962.
DQ891540 - Synthetic construct clone IMAGE:100004170; FLH177855.01X; RZPDo839E09126D solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12) gene, encodes complete protein.
EU176607 - Synthetic construct Homo sapiens clone IMAGE:100011409; FLH177854.01L; RZPDo839H05254D solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12) gene, encodes complete protein.
AB527259 - Synthetic construct DNA, clone: pF1KB3491, Homo sapiens SLC25A12 gene for solute carrier family 25 (mitochondrial carrier, Aralar), member 12, without stop codon, in Flexi system.
AK294638 - Homo sapiens cDNA FLJ57722 complete cds, highly similar to Calcium-binding mitochondrial carrier protein Aralar1.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75746 (Reactome details) participates in the following event(s):

R-HSA-1299484 TIMM8:TIMM13 chaperones hydrophobic proteins
R-HSA-372448 SLC25A12,13 exchange cytosolic L-Glu for mitochondrial matrix L-Asp
R-HSA-1268020 Mitochondrial protein import
R-HSA-70263 Gluconeogenesis
R-HSA-392499 Metabolism of proteins
R-HSA-70326 Glucose metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AGC1 , ARALAR1 , B3KR64, ENST00000422440.1, ENST00000422440.2, ENST00000422440.3, ENST00000422440.4, ENST00000422440.5, ENST00000422440.6, NR_047549, O75746, Q96AM8, S2512_HUMAN, SLC25A12 , uc319rum.1, uc319rum.2
UCSC ID: ENST00000422440.7_7
RefSeq Accession: NM_003705.5
Protein: O75746 (aka CMC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.