Seroatlas · Human Serome Atlas

SLC25A20

Mitochondrial carnitine/acylcarnitine carrier protein

Also known as: CAC, CACT, MCAT_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O43772
Gene: SLC25A20
Ensembl: ENSG00000178537
Chromosome: 3
Canonical length: 301 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Mitochondria,Cytosol

OverviewNCBI Gene

This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

301 residues, UniProt reviewed canonical sequence.

>O43772|SLC25A20
     1  MADQPKPISP LKNLLAGGFG GVCLVFVGHP LDTVKVRLQT QPPSLPGQPP MYSGTFDCFR
    61  KTLFREGITG LYRGMAAPII GVTPMFAVCF FGFGLGKKLQ QKHPEDVLSY PQLFAAGMLS
   121  GVFTTGIMTP GERIKCLLQI QASSGESKYT GTLDCAKKLY QEFGIRGIYK GTVLTLMRDV
   181  PASGMYFMTY EWLKNIFTPE GKRVSELSAP RILVAGGIAG IFNWAVAIPP DVLKSRFQTA
   241  PPGKYPNGFR DVLRELIRDE GVTSLYKGFN AVMIRAFPAN AACFLGFEVA MKFLNWATPN
   301  L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A20 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: 139 nTPM

Expression across tissuesHPA

Tissue

liver: 139 nTPM
skeletal muscle: 68 nTPM
heart muscle: 63 nTPM
duodenum: 62 nTPM
tongue: 57 nTPM
small intestine: 50 nTPM

Single-cell type

myonuclei: 95 nCPM
hepatocytes: 92 nCPM
enterocytes: 74 nCPM
adrenal cortex cells: 47 nCPM
proximal tubule cells: 44 nCPM
colonocytes: 39 nCPM

Immune cell

eosinophil: 216 nTPM
plasmacytoid DC: 121 nTPM
total PBMC: 112 nTPM
classical monocyte: 101 nTPM
gdT-cell: 98 nTPM
myeloid DC: 98 nTPM

Brain region

cerebellum: 15 nTPM
white matter: 15 nTPM
basal ganglia: 14 nTPM
hypothalamus: 14 nTPM
medulla oblongata: 13 nTPM
thalamus: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A20.

Disease | AllUniProt

Conditions SLC25A20 is implicated in, by any mechanism.

Carnitine-acylcarnitine translocase deficiency (CACTD) MIM:212138

Disease | GeneticClinVar

75 pathogenic / likely-pathogenic of 354 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Carnitine acylcarnitine translocase deficiency
SLC25A20-related disorder

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): 1.17
gnomAD pLI: 0
gnomAD missense Z: 0.3
DepMap mean gene effect: -0.11
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

Molecular functions

carnitine:O-acyl-L-carnitine antiporter activity
O-acyl-L-carnitine transmembrane transporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC25A20 as an antibody target. Whether an autoantibody or antibody against SLC25A20 could matter depends on whether native SLC25A20 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC25A20 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 SLC25A20 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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