Cell atlas - ETFDH - The Human Protein Atlas

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ETFDH

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	ETFDH
Gene description	Electron-transferring-flavoprotein dehydrogenase
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	4
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	ETFDH (HGNC Symbol)
Synonyms	ETFQO
Description	Electron-transferring-flavoprotein dehydrogenase (HGNC Symbol)
Entrez gene summary	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]
Chromosome	4
Cytoband	q32.1
Chromosome location (bp)	158672125 - 158709623
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000171503 (version 83.38)
Entrez gene	2110
UniProt	Q16134 (UniProt - Evidence at protein level)
neXtProt	NX_Q16134
Antibodypedia	ETFDH antibodies

PROTEIN BROWSER

ETFDH-001	ETFDH-004	ETFDH-006	ETFDH-008

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ETFDH-001 ENSP00000426638 ENST00000511912	Q16134 [Direct mapping] Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004174 [electron-transferring-flavoprotein dehydrogenase activity] GO:0005743 [mitochondrial inner membrane] GO:0005759 [mitochondrial matrix] GO:0006979 [response to oxidative stress] GO:0009055 [electron carrier activity] GO:0016491 [oxidoreductase activity] GO:0022900 [electron transport chain] GO:0022904 [respiratory electron transport chain] GO:0031305 [integral component of mitochondrial inner membrane] GO:0031966 [mitochondrial membrane] GO:0033539 [fatty acid beta-oxidation using acyl-CoA dehydrogenase] GO:0043783 [oxidoreductase activity, oxidizing metal ions with flavin as acceptor] GO:0044237 [cellular metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0048038 [quinone binding] GO:0048039 [ubiquinone binding] GO:0050660 [flavin adenine dinucleotide binding] GO:0051536 [iron-sulfur cluster binding] GO:0051539 [4 iron, 4 sulfur cluster binding] GO:0055114 [oxidation-reduction process] Show all	617 aa 68.5 kDa	No	0
ETFDH-004 ENSP00000303552 ENST00000307738	Q16134 [Direct mapping] Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004174 [electron-transferring-flavoprotein dehydrogenase activity] GO:0005759 [mitochondrial matrix] GO:0006979 [response to oxidative stress] GO:0009055 [electron carrier activity] GO:0016491 [oxidoreductase activity] GO:0022900 [electron transport chain] GO:0022904 [respiratory electron transport chain] GO:0031305 [integral component of mitochondrial inner membrane] GO:0031966 [mitochondrial membrane] GO:0033539 [fatty acid beta-oxidation using acyl-CoA dehydrogenase] GO:0043783 [oxidoreductase activity, oxidizing metal ions with flavin as acceptor] GO:0044237 [cellular metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0048038 [quinone binding] GO:0048039 [ubiquinone binding] GO:0050660 [flavin adenine dinucleotide binding] GO:0051539 [4 iron, 4 sulfur cluster binding] GO:0055114 [oxidation-reduction process] Show all	570 aa 62.8 kDa	No	1
ETFDH-006 ENSP00000422735 ENST00000507475	D6RAD5 [Direct mapping] Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		164 aa 18.1 kDa	No	0
ETFDH-008 ENSP00000425661 ENST00000512251	D6RJF8 [Direct mapping] Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	38 aa 4.2 kDa	No	1

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.