Seroatlas · Human Serome Atlas

ETFA

Electron transfer flavoprotein subunit alpha, mitochondrial

Also known as: EMA, ETFA_HUMAN, GA2, MADD

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

Protein identityUniProt · HPA

UniProt accession
P13804
Gene
ETFA
Ensembl
ENSG00000140374
Chromosome
15
Canonical length
333 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

333 residues, UniProt reviewed canonical sequence.

>P13804|ETFA
     1  MFRAAAPGQL RRAASLLRFQ STLVIAEHAN DSLAPITLNT ITAATRLGGE VSCLVAGTKC
    61  DKVAQDLCKV AGIAKVLVAQ HDVYKGLLPE ELTPLILATQ KQFNYTHICA GASAFGKNLL
   121  PRVAAKLEVA PISDIIAIKS PDTFVRTIYA GNALCTVKCD EKVKVFSVRG TSFDAAATSG
   181  GSASSEKASS TSPVEISEWL DQKLTKSDRP ELTGAKVVVS GGRGLKSGEN FKLLYDLADQ
   241  LHAAVGASRA AVDAGFVPND MQVGQTGKIV APELYIAVGI SGAIQHLAGM KDSKTIVAIN
   301  KDPEAPIFQV ADYGIVADLF KVVPEMTEIL KKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ETFA 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
245 nTPM

Expression across tissuesHPA

Tissue

  • liver: 245 nTPM
  • tongue: 245 nTPM
  • skeletal muscle: 186 nTPM
  • heart muscle: 119 nTPM
  • kidney: 101 nTPM
  • duodenum: 78 nTPM

Single-cell type

  • platelets: 913 nCPM
  • hepatocytes: 524 nCPM
  • syncytiotrophoblasts: 427 nCPM
  • cytotrophoblasts: 405 nCPM
  • migrating cytotrophoblasts: 381 nCPM
  • oocytes: 313 nCPM

Immune cell

  • myeloid DC: 78 nTPM
  • total PBMC: 64 nTPM
  • NK-cell: 62 nTPM
  • classical monocyte: 56 nTPM
  • intermediate monocyte: 52 nTPM
  • T-reg: 52 nTPM

Brain region

  • choroid plexus: 17 nTPM
  • thalamus: 9.2 nTPM
  • hypothalamus: 9.1 nTPM
  • medulla oblongata: 8.6 nTPM
  • cerebral cortex: 8.4 nTPM
  • white matter: 8.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ETFA.

Disease | AllUniProt

Conditions ETFA is implicated in, by any mechanism.

Disease | GeneticClinVar

90 pathogenic / likely-pathogenic of 608 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.68
gnomAD pLI
0
gnomAD missense Z
1.06
DepMap mean gene effect
0.03
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

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

Canonical record: https://seroatlas.com/gene/ETFA. 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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