Seroatlas · Human Serome Atlas

SLC25A4

ADP/ATP translocase 1

Also known as: AAC1, ADT1_HUMAN, ANT1, PEO2, PEO3, T1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P12235
Gene
SLC25A4
Ensembl
ENSG00000151729
Chromosome
4
Canonical length
298 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins, Transporters
Subcellular location
Mitochondria

OverviewNCBI Gene

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]

Canonical amino-acid sequenceUniProt

298 residues, UniProt reviewed canonical sequence.

>P12235|SLC25A4
     1  MGDHAWSFLK DFLAGGVAAA VSKTAVAPIE RVKLLLQVQH ASKQISAEKQ YKGIIDCVVR
    61  IPKEQGFLSF WRGNLANVIR YFPTQALNFA FKDKYKQLFL GGVDRHKQFW RYFAGNLASG
   121  GAAGATSLCF VYPLDFARTR LAADVGKGAA QREFHGLGDC IIKIFKSDGL RGLYQGFNVS
   181  VQGIIIYRAA YFGVYDTAKG MLPDPKNVHI FVSWMIAQSV TAVAGLVSYP FDTVRRRMMM
   241  QSGRKGADIM YTGTVDCWRK IAKDEGAKAF FKGAWSNVLR GMGGAFVLVL YDEIKKYV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A4 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
324 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 324 nTPM
  • heart muscle: 240 nTPM
  • skeletal muscle: 191 nTPM
  • cerebellum: 48 nTPM
  • cerebral cortex: 33 nTPM
  • basal ganglia: 26 nTPM

Single-cell type

  • thymic myoid cells: 1,307 nCPM
  • parietal cells: 672 nCPM
  • müller glia: 426 nCPM
  • retinal pigment epithelial cells: 384 nCPM
  • myonuclei: 363 nCPM
  • smooth muscle cells: 260 nCPM

Immune cell

  • gdT-cell: 1.7 nTPM
  • memory B-cell: 1.5 nTPM
  • memory CD8 T-cell: 1.4 nTPM
  • MAIT T-cell: 1.3 nTPM
  • plasmacytoid DC: 1.3 nTPM
  • naive CD8 T-cell: 1.2 nTPM

Brain region

  • cerebral cortex: 68 nTPM
  • cerebellum: 52 nTPM
  • white matter: 42 nTPM
  • basal ganglia: 36 nTPM
  • hippocampal formation: 33 nTPM
  • hypothalamus: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A4.

Disease | AllUniProt

Conditions SLC25A4 is implicated in, by any mechanism.

  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) MIM:609283
  • Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B) MIM:615418
  • Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A) MIM:617184

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 307 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
  • Mitochondrial disease
  • Myopia

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)
0.64
gnomAD pLI
0.45
gnomAD missense Z
1.87
DepMap mean gene effect
-0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC25A4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC25A4 as an antibody target. Whether an autoantibody or antibody against SLC25A4 could matter depends on whether native SLC25A4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC25A4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC25A4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC25A4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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