SLC25A42
Mitochondrial coenzyme A transporter SLC25A42
Also known as: MGC26694, S2542_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q86VD7
- Gene
- SLC25A42
- Ensembl
- ENSG00000181035
- Chromosome
- 19
- Canonical length
- 318 aa
- Protein class
- Disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Mitochondria
OverviewNCBI Gene
This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]
Canonical amino-acid sequenceUniProt
318 residues, UniProt reviewed canonical sequence.
>Q86VD7|SLC25A42
1 MGNGVKEGPV RLHEDAEAVL SSSVSSKRDH RQVLSSLLSG ALAGALAKTA VAPLDRTKII
61 FQVSSKRFSA KEAFRVLYYT YLNEGFLSLW RGNSATMVRV VPYAAIQFSA HEEYKRILGS
121 YYGFRGEALP PWPRLFAGAL AGTTAASLTY PLDLVRARMA VTPKEMYSNI FHVFIRISRE
181 EGLKTLYHGF MPTVLGVIPY AGLSFFTYET LKSLHREYSG RRQPYPFERM IFGACAGLIG
241 QSASYPLDVV RRRMQTAGVT GYPRASIART LRTIVREEGA VRGLYKGLSM NWVKGPIAVG
301 ISFTTFDLMQ ILLRHLQSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC25A42 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
- 76 nTPM
Expression across tissuesHPA
Tissue
- liver: 76 nTPM
- skeletal muscle: 43 nTPM
- kidney: 32 nTPM
- tongue: 30 nTPM
- thyroid gland: 23 nTPM
- cerebellum: 19 nTPM
Single-cell type
- myonuclei: 183 nCPM
- proximal tubule cells: 182 nCPM
- retinal bipolar cells: 111 nCPM
- hepatocytes: 89 nCPM
- rod photoreceptor cells: 78 nCPM
- retinal ganglion cells: 73 nCPM
Immune cell
- memory B-cell: 3.3 nTPM
- naive B-cell: 3.2 nTPM
- gdT-cell: 2.8 nTPM
- memory CD8 T-cell: 2.4 nTPM
- NK-cell: 1.8 nTPM
- T-reg: 1.7 nTPM
Brain region
- hypothalamus: 24 nTPM
- hippocampal formation: 24 nTPM
- cerebral cortex: 23 nTPM
- amygdala: 22 nTPM
- thalamus: 22 nTPM
- choroid plexus: 22 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC25A42.
Disease | AllUniProt
Conditions SLC25A42 is implicated in, by any mechanism.
- Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MECREN) MIM:618416
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 206 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
- Inborn mitochondrial myopathy
- SLC25A42-related mitochondrial disorder
- SLC25A42-related mitochondrial encephalomyopathy
- Inborn genetic diseases
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)
- 0.53
- gnomAD pLI
- 0.49
- gnomAD missense Z
- 2.1
- DepMap mean gene effect
- -0.19
- 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
- ADP transport
- ATP transport
- pantothenate metabolic process
- AMP transport
- coenzyme A transmembrane transport
Molecular functions
- ADP phosphatase activity
- ADP transmembrane transporter activity
- AMP transmembrane transporter activity
- ATP transmembrane transporter activity
- coenzyme A transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC25A42 as an antibody target. Whether an autoantibody or antibody against SLC25A42 could matter depends on whether native SLC25A42 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC25A42 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 SLC25A42 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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