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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]
SLC25A13 (Solute Carrier Family 25 Member 13) is a Protein Coding gene. Diseases associated with SLC25A13 include Citrullinemia, Type Ii, Neonatal-Onset and Citrullinemia, Type Ii, Adult-Onset. Among its related pathways are Glucose metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC25A12.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005313 | L-glutamate transmembrane transporter activity | IEA,IDA | 11566871 |
GO:0005347 | ATP transmembrane transporter activity | IEA | -- |
GO:0005509 | calcium ion binding | IDA | 10642534 |
GO:0015183 | L-aspartate transmembrane transporter activity | IBA,IDA | 11566871 |
GO:0022857 | transmembrane transporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | 10642534 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | NAS | 10642534 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
.46
|
|
2 | Metabolism |
.40
|
|
3 | Glycosaminoglycan metabolism | ||
4 | Metabolism of proteins | ||
5 | Mitochondrial protein import |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006094 | gluconeogenesis | TAS | -- |
GO:0006754 | ATP biosynthetic process | IDA | 12851387 |
GO:0006839 | mitochondrial transport | NAS | 10642534 |
GO:0015810 | aspartate transmembrane transport | IEA,IDA | 11566871 |
GO:0015813 | L-glutamate transmembrane transport | IBA,IDA | 11566871 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC25A13 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC25A13 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC25A13 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc25a13 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC25A13 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC25A13 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC25A13 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC25A13 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc25a13 30 |
|
||
Str.2860 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC69168 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc25a13 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.273 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | aralar1 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | K02F3.2 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AGC1 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638891 | Pathogenic: Citrin deficiency | 96,146,632(-) | GC/G | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
643067 | Pathogenic: Citrin deficiency | 96,184,963(-) | ACT/A | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
664251 | Uncertain Significance: Citrin deficiency | 96,189,581(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
664925 | Pathogenic: Citrin deficiency | 96,121,734(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
668498 | Likely Benign: not provided | 96,121,644(-) | A/G | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1678533 | CNV | insertion | 17803354 |
esv1986427 | CNV | deletion | 18987734 |
esv2663788 | CNV | deletion | 23128226 |
esv2734851 | CNV | deletion | 23290073 |
esv3614208 | CNV | loss | 21293372 |
nsv477757 | CNV | novel sequence insertion | 20440878 |
nsv510101 | OTHER | sequence alteration | 20534489 |
nsv970907 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
citrullinemia, type ii, neonatal-onset |
|
|
citrullinemia, type ii, adult-onset |
|
|
citrullinemia, classic |
|
|
cholestasis |
|
|
brain edema |
|