SLC25A13

Protein identityUniProt · HPA

UniProt accession

Q9UJS0

Gene

SLC25A13

Ensembl

ENSG00000004864

Chromosome

7

Canonical length

675 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

675 residues, UniProt reviewed canonical sequence.

>Q9UJS0|SLC25A13
     1  MAAAKVALTK RADPAELRTI FLKYASIEKN GEFFMSPNDF VTRYLNIFGE SQPNPKTVEL
    61  LSGVVDQTKD GLISFQEFVA FESVLCAPDA LFMVAFQLFD KAGKGEVTFE DVKQVFGQTT
   121  IHQHIPFNWD SEFVQLHFGK ERKRHLTYAE FTQFLLEIQL EHAKQAFVQR DNARTGRVTA
   181  IDFRDIMVTI RPHVLTPFVE ECLVAAAGGT TSHQVSFSYF NGFNSLLNNM ELIRKIYSTL
   241  AGTRKDVEVT KEEFVLAAQK FGQVTPMEVD ILFQLADLYE PRGRMTLADI ERIAPLEEGT
   301  LPFNLAEAQR QKASGDSARP VLLQVAESAY RFGLGSVAGA VGATAVYPID LVKTRMQNQR
   361  STGSFVGELM YKNSFDCFKK VLRYEGFFGL YRGLLPQLLG VAPEKAIKLT VNDFVRDKFM
   421  HKDGSVPLAA EILAGGCAGG SQVIFTNPLE IVKIRLQVAG EITTGPRVSA LSVVRDLGFF
   481  GIYKGAKACF LRDIPFSAIY FPCYAHVKAS FANEDGQVSP GSLLLAGAIA GMPAASLVTP
   541  ADVIKTRLQV AARAGQTTYS GVIDCFRKIL REEGPKALWK GAGARVFRSS PQFGVTLLTY
   601  ELLQRWFYID FGGVKPMGSE PVPKSRINLP APNPDHVGGY KLAVATFAGI ENKFGLYLPL
   661  FKPSVSTSKA IGGGP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A13 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

6

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

140 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A13.

Disease | AllUniProt

Conditions SLC25A13 is implicated in, by any mechanism.

• Citrin deficiency, adolescent or adult onset (CDAA) MIM:603471
• Citrin deficiency, neonatal or infantile onset (CDNI) MIM:605814

Disease | GeneticClinVar

213 pathogenic / likely-pathogenic of 997 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Citrin deficiency
• Citrullinemia, type II, adult-onset
• Citrullinemia
• Neonatal intrahepatic cholestasis due to citrin deficiency
• Citrullinemia type II

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.24

gnomAD pLI

0

gnomAD missense Z

0.3

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aspartate transmembrane transport
• ATP biosynthetic process
• cellular respiration
• gluconeogenesis
• L-glutamate transmembrane transport
• malate-aspartate shuttle
• mitochondrial transport
• response to calcium ion

Molecular functions

• 3-sulfino-L-alanine: proton, glutamate antiporter activity
• aspartate:glutamate, proton antiporter activity
• calcium ion binding
• identical protein binding
• L-aspartate transmembrane transporter activity
• L-glutamate transmembrane transporter activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• EF-hand domain
• Mitochondrial carrier protein
• EF-hand domain pair
• Mitochondrial carrier protein, transmembrane region
• Mitochondrial carrier protein domain superfamily
• Mitochondrial Solute Carrier
• Mitochondrial carrier protein

KeywordsUniProt

• Acetylation
• Antiport
• Calcium
• Intrahepatic cholestasis
• Membrane
• Metal-binding
• Methylation
• Mitochondrion
• Mitochondrion inner membrane
• Phosphoprotein
• Repeat
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of SLC25A13 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SLC25A12