SLC25A24

Protein identityUniProt · HPA

UniProt accession

Q6NUK1

Gene

SLC25A24

Ensembl

ENSG00000085491

Chromosome

1

Canonical length

477 aa

Protein class

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

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

477 residues, UniProt reviewed canonical sequence.

>Q6NUK1|SLC25A24
     1  MLRWLRDFVL PTAACQDAEQ PTRYETLFQA LDRNGDGVVD IGELQEGLRN LGIPLGQDAE
    61  EKIFTTGDVN KDGKLDFEEF MKYLKDHEKK MKLAFKSLDK NNDGKIEASE IVQSLQTLGL
   121  TISEQQAELI LQSIDVDGTM TVDWNEWRDY FLFNPVTDIE EIIRFWKHST GIDIGDSLTI
   181  PDEFTEDEKK SGQWWRQLLA GGIAGAVSRT STAPLDRLKI MMQVHGSKSD KMNIFGGFRQ
   241  MVKEGGIRSL WRGNGTNVIK IAPETAVKFW AYEQYKKLLT EEGQKIGTFE RFISGSMAGA
   301  TAQTFIYPME VMKTRLAVGK TGQYSGIYDC AKKILKHEGL GAFYKGYVPN LLGIIPYAGI
   361  DLAVYELLKS YWLDNFAKDS VNPGVMVLLG CGALSSTCGQ LASYPLALVR TRMQAQAMLE
   421  GSPQLNMVGL FRRIISKEGI PGLYRGITPN FMKVLPAVGI SYVVYENMKQ TLGVTQK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A24 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)

0.29

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A24.

Disease | AllUniProt

Conditions SLC25A24 is implicated in, by any mechanism.

• Fontaine progeroid syndrome (FPS) MIM:612289

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 213 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Fontaine progeroid syndrome
• Dementia
• Bilateral tonic-clonic seizure

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)

1.13

gnomAD pLI

0

gnomAD missense Z

0.82

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adenine nucleotide transport
• ADP transport
• ATP transport
• cellular response to calcium ion
• cellular response to oxidative stress
• mitochondrial ATP transmembrane transport
• mitochondrial transport

Molecular functions

• adenine nucleotide transmembrane transporter activity
• ADP:phosphate antiporter activity
• ATP transmembrane transporter activity
• ATP:phosphate antiporter activity
• calcium ion binding

Cellular components

• membrane
• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• EF-hand domain
• Mitochondrial carrier protein
• Solute carrier family 25 member 16-like
• EF-hand domain pair
• Mitochondrial carrier protein, transmembrane region
• EF-Hand 1, calcium-binding site
• Mitochondrial carrier protein domain superfamily
• Mitochondrial carrier protein
• EF-hand domain pair

KeywordsUniProt

• Acetylation
• Antiport
• Calcium
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Repeat
• Transmembrane
• Transmembrane helix
• Transport