Solute Carrier Family 25 Member 13 (SLC25A13)

ARALAR2; Citrin; Mitochondrial Aspartate Glutamate Carrier 2; Calcium-binding mitochondrial carrier protein Aralar2

SPN	S338
HGNC	10983
MGI	1354721
PubMed	22277121
RGD	1565889
UniProt	Q9UJS0
Wiki	SLC25A13

Citrin 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.SLC25A13, which was found to encode a 675-amino acid protein with a molecular mass of 74 kD. The protein, termed citrin, is bipartite in structure, containing a mitochondrial carrier motif and 4 EF-hand domains. Northern blot analysis detected ubiquitous expression of a 3.4-kb transcript, with highest expression in liver.

Reference

"The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein."
Nat. Genet. 22:159-163(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues."
Biochem. J. 345:725-732(2000) [PubMed] [Europe PMC] [Abstract]

"Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria."
EMBO J. 20:5060-5069(2001) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 7."
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue."
Genomics 62:289-292(1999) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations."
Hum. Mutat. 19:122-130(2002) [PubMed] [Europe PMC] [Abstract]