Human Gene SLC25A13 (uc003uog.4) Description and Page Index
  Description: Homo sapiens solute carrier family 25 (aspartate/glutamate carrier), member 13 (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_001160210): This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].
Transcript (Including UTRs)
   Position: hg19 chr7:95,749,532-95,951,459 Size: 201,928 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr7:95,750,503-95,951,268 Size: 200,766 Coding Exon Count: 18 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:95,749,532-95,951,459)mRNA (may differ from genome)Protein (676 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIOMIMPubMedReactome
Stanford SOURCEUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC25A13
CDC HuGE Published Literature: SLC25A13

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC25A13
Diseases sorted by gene-association score: citrullinemia, type ii, neonatal-onset* (1550), citrullinemia, adult-onset type ii* (1472), citrullinemia (43), cholestasis (27), intrahepatic cholestasis (22), failure to thrive and dyslipidemia caused by citrin deficiency (19), brain edema (17), hepatic encephalopathy (15), obstructive jaundice (15), galactosemia (12), galactokinase deficiency with cataracts (9), duodenal somatostatinoma (9), urea cycle disorder (8), bile duct disease (7), vlcad deficiency (7), ovarian cyst (7), acyl-coa dehydrogenase, short-chain, deficiency of (7), fatty acid oxidation disorders (6), autosomal recessive disease (6), biliary tract disease (6), holocarboxylase synthetase deficiency (6), liver disease (5), propionicacidemia (4)
* = 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: 28.32 RPKM in Liver
Total median expression: 310.59 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -96.00191-0.503 Picture PostScript Text
3' UTR -253.39971-0.261 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
  Pfam Domains:
PF00153 - Mitochondrial carrier protein

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

ModBase Predicted Comparative 3D Structure on Q9UJS0-2
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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 Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC006566 - Homo sapiens solute carrier family 25, member 13 (citrin), mRNA (cDNA clone MGC:3379 IMAGE:3604257), complete cds.
AJ496569 - Homo sapiens mRNA for mitochondrial aspartate-glutamate carrier protein (SLC25A13 gene).
AF118838 - Homo sapiens citrin (SLC25A13) mRNA, complete cds.
AK025779 - Homo sapiens cDNA: FLJ22126 fis, clone HEP19479, highly similar to AF118838 Homo sapiens citrin (SLC25A13) mRNA.
AK000766 - Homo sapiens cDNA FLJ20759 fis, clone HEP01251, highly similar to AF118838 Homo sapiens citrin.
AK222864 - Homo sapiens mRNA for solute carrier family 25, member 13 (citrin) variant, clone: HEP14393.
AK025227 - Homo sapiens cDNA: FLJ21574 fis, clone COL06668, highly similar to AF118838 Homo sapiens citrin (SLC25A13) mRNA.
AK294629 - Homo sapiens cDNA FLJ54671 complete cds, highly similar to Calcium-binding mitochondrial carrier protein Aralar2.
Y17571 - Homo sapiens mRNA for mitochondrial carrier protein ARALAR2.
DQ892851 - Synthetic construct clone IMAGE:100005481; FLH190297.01X; RZPDo839G0975D solute carrier family 25, member 13 (citrin) (SLC25A13) gene, encodes complete protein.
DQ896098 - Synthetic construct Homo sapiens clone IMAGE:100010558; FLH190293.01L; RZPDo839G0965D solute carrier family 25, member 13 (citrin) (SLC25A13) gene, encodes complete protein.
KJ892943 - Synthetic construct Homo sapiens clone ccsbBroadEn_02337 SLC25A13 gene, encodes complete protein.
KR710271 - Synthetic construct Homo sapiens clone CCSBHm_00011021 SLC25A13 (SLC25A13) mRNA, encodes complete protein.
KR710272 - Synthetic construct Homo sapiens clone CCSBHm_00011030 SLC25A13 (SLC25A13) mRNA, encodes complete protein.
KR710273 - Synthetic construct Homo sapiens clone CCSBHm_00011031 SLC25A13 (SLC25A13) mRNA, encodes complete protein.
KR710274 - Synthetic construct Homo sapiens clone CCSBHm_00011038 SLC25A13 (SLC25A13) mRNA, encodes complete protein.
CU675453 - Synthetic construct Homo sapiens gateway clone IMAGE:100018408 5' read SLC25A13 mRNA.
JD503825 - Sequence 484849 from Patent EP1572962.
JD244751 - Sequence 225775 from Patent EP1572962.
JD270987 - Sequence 252011 from Patent EP1572962.
JD290134 - Sequence 271158 from Patent EP1572962.
JD188162 - Sequence 169186 from Patent EP1572962.
JD037420 - Sequence 18444 from Patent EP1572962.
JD214314 - Sequence 195338 from Patent EP1572962.
JD349836 - Sequence 330860 from Patent EP1572962.
JD257845 - Sequence 238869 from Patent EP1572962.
JD222300 - Sequence 203324 from Patent EP1572962.
JD307794 - Sequence 288818 from Patent EP1572962.
JD377794 - Sequence 358818 from Patent EP1572962.
JD156435 - Sequence 137459 from Patent EP1572962.
AK130552 - Homo sapiens cDNA FLJ27042 fis, clone SLV08949.
JD124650 - Sequence 105674 from Patent EP1572962.
JD405886 - Sequence 386910 from Patent EP1572962.

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

Protein Q9UJS0 (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: ARALAR2, NM_001160210, NP_001153682, Q9UJS0-2
UCSC ID: uc003uog.4
RefSeq Accession: NM_001160210
Protein: Q9UJS0-2, splice isoform of Q9UJS0 CCDS: CCDS5645.1, CCDS55130.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC25A13:
citrin (Citrin Deficiency)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001160210.1
exon count: 18CDS single in 3' UTR: no RNA size: 3207
ORF size: 2031CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4049.00frame shift in genome: no % Coverage: 99.56
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.