Seroatlas · Human Serome Atlas

ETFDH

Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial

Also known as: ETFD_HUMAN, ETFQO

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

Protein identityUniProt · HPA

UniProt accession: Q16134
Gene: ETFDH
Ensembl: ENSG00000171503
Chromosome: 4
Canonical length: 617 aa
Protein class: Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Mitochondria,Cytosol

OverviewNCBI Gene

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

617 residues, UniProt reviewed canonical sequence.

>Q16134|ETFDH
     1  MLVPLAKLSC LAYQCFHALK IKKNYLPLCA TRWSSTSTVP RITTHYTIYP RDKDKRWEGV
    61  NMERFAEEAD VVIVGAGPAG LSAAVRLKQL AVAHEKDIRV CLVEKAAQIG AHTLSGACLD
   121  PGAFKELFPD WKEKGAPLNT PVTEDRFGIL TEKYRIPVPI LPGLPMNNHG NYIVRLGHLV
   181  SWMGEQAEAL GVEVYPGYAA AEVLFHDDGS VKGIATNDVG IQKDGAPKAT FERGLELHAK
   241  VTIFAEGCHG HLAKQLYKKF DLRANCEPQT YGIGLKELWV IDEKNWKPGR VDHTVGWPLD
   301  RHTYGGSFLY HLNEGEPLVA LGLVVGLDYQ NPYLSPFREF QRWKHHPSIR PTLEGGKRIA
   361  YGARALNEGG FQSIPKLTFP GGLLIGCSPG FMNVPKIKGT HTAMKSGILA AESIFNQLTS
   421  ENLQSKTIGL HVTEYEDNLK NSWVWKELYS VRNIRPSCHG VLGVYGGMIY TGIFYWILRG
   481  MEPWTLKHKG SDFERLKPAK DCTPIEYPKP DGQISFDLLS SVALSGTNHE HDQPAHLTLR
   541  DDSIPVNRNL SIYDGPEQRF CPAGVYEFVP VEQGDGFRLQ INAQNCVHCK TCDIKDPSQN
   601  INWVVPEGGG GPAYNGM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ETFDH 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: 0
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 163 nTPM

Expression across tissuesHPA

Tissue

tongue: 163 nTPM
liver: 149 nTPM
skeletal muscle: 80 nTPM
heart muscle: 67 nTPM
duodenum: 48 nTPM
small intestine: 34 nTPM

Single-cell type

myonuclei: 241 nCPM
hepatocytes: 196 nCPM
esophageal apical cells: 188 nCPM
cardiomyocytes: 183 nCPM
adipocytes: 143 nCPM
enterocytes: 138 nCPM

Immune cell

eosinophil: 21 nTPM
intermediate monocyte: 17 nTPM
non-classical monocyte: 16 nTPM
myeloid DC: 13 nTPM
classical monocyte: 13 nTPM
T-reg: 9.7 nTPM

Brain region

choroid plexus: 19 nTPM
hypothalamus: 7.8 nTPM
thalamus: 7.2 nTPM
midbrain: 6.5 nTPM
basal ganglia: 6.1 nTPM
cerebellum: 5.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ETFDH.

Disease | AllUniProt

Conditions ETFDH is implicated in, by any mechanism.

Glutaric aciduria 2C (GA2C) MIM:231680

Disease | GeneticClinVar

304 pathogenic / likely-pathogenic of 1,098 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C
Glutaric acidemia IIc
ETFDH-related disorder
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): 1.04
gnomAD pLI: 0
gnomAD missense Z: 0.39
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

4Fe-4S ferredoxin-type, iron-sulphur binding domain
FAD/NAD(P)-binding domain superfamily
ETF-QO/FixX, C-terminal domain
Electron transfer flavoprotein-ubiquinone oxidoreductase
ETF-QO/FixC, ubiquinone-binding
Thi4 family
Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S
ETF-QO, ubiquinone-binding

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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