SLC25A1

Protein identityUniProt · HPA

UniProt accession

P53007

Gene

SLC25A1

Ensembl

ENSG00000100075

Chromosome

22

Canonical length

311 aa

Protein class

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

OverviewNCBI Gene

This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Canonical amino-acid sequenceUniProt

311 residues, UniProt reviewed canonical sequence.

>P53007|SLC25A1
     1  MPAPRAPRAL AAAAPASGKA KLTHPGKAIL AGGLAGGIEI CITFPTEYVK TQLQLDERSH
    61  PPRYRGIGDC VRQTVRSHGV LGLYRGLSSL LYGSIPKAAV RFGMFEFLSN HMRDAQGRLD
   121  STRGLLCGLG AGVAEAVVVV CPMETIKVKF IHDQTSPNPK YRGFFHGVRE IVREQGLKGT
   181  YQGLTATVLK QGSNQAIRFF VMTSLRNWYR GDNPNKPMNP LITGVFGAIA GAASVFGNTP
   241  LDVIKTRMQG LEAHKYRNTW DCGLQILKKE GLKAFYKGTV PRLGRVCLDV AIVFVIYDEV
   301  VKLLNKVWKT D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A1 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)

0.32

Highest tissue expression

207 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A1.

Disease | AllUniProt

Conditions SLC25A1 is implicated in, by any mechanism.

• Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) MIM:615182
• Myasthenic syndrome, congenital, 23, presynaptic (CMS23) MIM:618197

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 237 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• D,L-2-hydroxyglutaric aciduria
• 2-hydroxyglutaric aciduria
• Myasthenic syndrome, congenital, 23, presynaptic
• SLC25A1-related disorder
• Melanoma

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)

0.65

gnomAD pLI

0.06

gnomAD missense Z

1.24

DepMap mean gene effect

-0.22

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• monoatomic ion transport
• negative regulation of ferroptosis
• mitochondrial citrate transmembrane transport

Molecular functions

• antiporter activity
• citrate transmembrane transporter activity
• citrate secondary active transmembrane transporter activity
• tricarboxylic acid transmembrane transporter activity

Cellular components

• extracellular exosome
• mitochondrial inner membrane
• mitochondrial membrane
• mitochondrion
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Mitochondrial carrier protein
• Mitochondrial carrier protein, transmembrane region
• Mitochondrial carrier protein domain superfamily
• Mitochondrial carrier protein
• Tricarboxylate transport protein-like

KeywordsUniProt

• Antiport
• Congenital myasthenic syndrome
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Phosphoprotein
• Repeat
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of SLC25A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RNF157