Homo sapiens Gene: SLC25A13
Summary
InnateDB Gene IDBG-27955.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC25A13
Gene Name solute carrier family 25 (aspartate/glutamate carrier), member 13
Synonyms ARALAR2; CITRIN; CTLN2;
Species Homo sapiens
Ensembl Gene ENSG00000004864
Encoded Proteins
solute carrier family 25, member 13 (citrin)
solute carrier family 25, member 13 (citrin)
solute carrier family 25 (aspartate/glutamate carrier), member 13
Protein Structure
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:96120220-96322147
Strand Reverse strand
Band q21.3
Transcripts
ENST00000265631 ENSP00000265631
ENST00000416240 ENSP00000400101
ENST00000494085
ENST00000490072
ENST00000484495
ENST00000492869
ENST00000472162 ENSP00000473505
ENST00000487710
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 28 [view]
Protein-Protein 26 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005313 L-glutamate transmembrane transporter activity
GO:0005509 calcium ion binding
GO:0015183 L-aspartate transmembrane transporter activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006006 glucose metabolic process
GO:0006094 gluconeogenesis
GO:0006754 ATP biosynthetic process
GO:0006810 transport
GO:0015810 aspartate transport
GO:0015813 L-glutamate transport
GO:0043490 malate-aspartate shuttle
GO:0044281 small molecule metabolic process
GO:0045333 cellular respiration
GO:0051592 response to calcium ion
GO:0055085 transmembrane transport
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005887 integral component of plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Metabolism of proteins pathway
Gluconeogenesis pathway
Metabolism pathway
Mitochondrial protein import pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9UJS0
TrEMBL Q75KX8 R4GN64
UniProt Splice Variant
Entrez Gene 10165
UniGene Hs.489190
RefSeq NM_001160210 NM_014251 XM_006715830 XM_006715831 XM_006715834
HUGO HGNC:10983
OMIM 603859
CCDS CCDS55130 CCDS5645
HPRD 04837
IMGT
EMBL AC002450 AC002540 AC004458 AC084368 AC096775 AF118838 AH009104 AJ496569 BC006566 CH471091 Y17571
GenPept AAB67049 AAB70112 AAD38501 AAF28473 AAH06566 AAS07527 CAB62206 CAD43091 EAW76748
ImmGen SLC25A13 (murine)
RNA Seq Atlas 10165