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Protein

Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial

Gene

ETFDH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Accepts electrons from ETF and reduces ubiquinone.

Catalytic activityi

Reduced electron-transferring flavoprotein + ubiquinone = electron-transferring flavoprotein + ubiquinol.

Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei305Ubiquinone; via carbonyl oxygenBy similarity1
Binding sitei306Ubiquinone; via amide nitrogenBy similarity1
Metal bindingi561Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi586Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi589Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi592Iron-sulfur (4Fe-4S)Sequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi71 – 85FADSequence analysisAdd BLAST15

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processElectron transport, Transport
Ligand4Fe-4S, FAD, Flavoprotein, Iron, Iron-sulfur, Metal-binding, Ubiquinone

Enzyme and pathway databases

BioCyciMetaCyc:HS10326-MONOMER
BRENDAi1.5.5.1 2681
ReactomeiR-HSA-611105 Respiratory electron transport

Names & Taxonomyi

Protein namesi
Recommended name:
Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (EC:1.5.5.1)
Short name:
ETF-QO
Short name:
ETF-ubiquinone oxidoreductase
Alternative name(s):
Electron-transferring-flavoprotein dehydrogenase
Short name:
ETF dehydrogenase
Gene namesi
Name:ETFDH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000171503.11
HGNCiHGNC:3483 ETFDH
MIMi231675 gene
neXtProtiNX_Q16134

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Intramembranei109 – 130By similarityAdd BLAST22
Intramembranei428 – 447By similarityAdd BLAST20

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Glutaric aciduria 2C (GA2C)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.
See also OMIM:231680
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07543949Y → C in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_07544082S → F in GA2C. 1 PublicationCorresponds to variant dbSNP:rs887871605Ensembl.1
Natural variantiVAR_07544182S → P in GA2C. 1 Publication1
Natural variantiVAR_07544284A → T in GA2C. 2 PublicationsCorresponds to variant dbSNP:rs121964954EnsemblClinVar.1
Natural variantiVAR_075443112H → Y in GA2C. 1 Publication1
Natural variantiVAR_075444127L → H in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964956EnsemblClinVar.1
Natural variantiVAR_075445138L → R in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779896449EnsemblClinVar.1
Natural variantiVAR_075446175R → H in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964955EnsemblClinVar.1
Natural variantiVAR_075447175R → L in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964955EnsemblClinVar.1
Natural variantiVAR_075448218D → N in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748289922Ensembl.1
Natural variantiVAR_075449222Q → P in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075450262L → F in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075451334L → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377686388EnsemblClinVar.1
Natural variantiVAR_075452346H → R in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075453377L → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs387907170EnsemblClinVar.1
Natural variantiVAR_075454452R → K in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075455456P → L in GA2C. 2 PublicationsCorresponds to variant dbSNP:rs398124152EnsemblClinVar.1
Natural variantiVAR_075456456P → T in GA2C. 1 Publication1
Natural variantiVAR_075457483P → L in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377656387EnsemblClinVar.1
Natural variantiVAR_075458562P → L in GA2C. 1 PublicationCorresponds to variant dbSNP:rs993314323Ensembl.1
Natural variantiVAR_075459590K → E in GA2C. 1 Publication1
Natural variantiVAR_075460611G → E in GA2C. 1 PublicationCorresponds to variant dbSNP:rs761669036EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Glutaricaciduria

Organism-specific databases

DisGeNETi2110
MalaCardsiETFDH
MIMi231680 phenotype
OpenTargetsiENSG00000171503
Orphaneti394532 Multiple acyl-CoA dehydrogenase deficiency, mild type
394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
PharmGKBiPA27899

Polymorphism and mutation databases

BioMutaiETFDH
DMDMi292495008

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 33MitochondrionSequence analysisAdd BLAST33
ChainiPRO_000000866134 – 617Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrialAdd BLAST584

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei96N6-acetyllysineBy similarity1
Modified residuei132N6-acetyllysineBy similarity1
Modified residuei223N6-acetyllysineBy similarity1
Modified residuei357N6-acetyllysineBy similarity1
Modified residuei551PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ16134
MaxQBiQ16134
PaxDbiQ16134
PeptideAtlasiQ16134
PRIDEiQ16134
ProteomicsDBi60832

PTM databases

iPTMnetiQ16134
PhosphoSitePlusiQ16134
SwissPalmiQ16134

Expressioni

Gene expression databases

BgeeiENSG00000171503 Expressed in 218 organ(s), highest expression level in apex of heart
CleanExiHS_ETFDH
ExpressionAtlasiQ16134 baseline and differential
GenevisibleiQ16134 HS

Organism-specific databases

HPAiHPA041978

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

BioGridi108411, 4 interactors
IntActiQ16134, 11 interactors
STRINGi9606.ENSP00000426638

Structurei

3D structure databases

ProteinModelPortaliQ16134
SMRiQ16134
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini577 – 6064Fe-4S ferredoxin-typePROSITE-ProRule annotationAdd BLAST30

Sequence similaritiesi

Belongs to the ETF-QO/FixC family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2415 Eukaryota
COG0644 LUCA
GeneTreeiENSGT00390000010773
HOGENOMiHOG000259450
HOVERGENiHBG005615
InParanoidiQ16134
KOiK00311
OMAiVINSQNC
OrthoDBiEOG091G03C7
PhylomeDBiQ16134
TreeFamiTF105687

Family and domain databases

Gene3Di3.50.50.60, 1 hit
InterProiView protein in InterPro
IPR017896 4Fe4S_Fe-S-bd
IPR036188 FAD/NAD-bd_sf
IPR000103 Pyridine_nuc-diS_OxRdtase_2
PRINTSiPR00469 PNDRDTASEII
SUPFAMiSSF51905 SSF51905, 1 hit
PROSITEiView protein in PROSITE
PS51379 4FE4S_FER_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q16134-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLVPLAKLSC LAYQCFHALK IKKNYLPLCA TRWSSTSTVP RITTHYTIYP
60 70 80 90 100
RDKDKRWEGV NMERFAEEAD VVIVGAGPAG LSAAVRLKQL AVAHEKDIRV
110 120 130 140 150
CLVEKAAQIG AHTLSGACLD PGAFKELFPD WKEKGAPLNT PVTEDRFGIL
160 170 180 190 200
TEKYRIPVPI LPGLPMNNHG NYIVRLGHLV SWMGEQAEAL GVEVYPGYAA
210 220 230 240 250
AEVLFHDDGS VKGIATNDVG IQKDGAPKAT FERGLELHAK VTIFAEGCHG
260 270 280 290 300
HLAKQLYKKF DLRANCEPQT YGIGLKELWV IDEKNWKPGR VDHTVGWPLD
310 320 330 340 350
RHTYGGSFLY HLNEGEPLVA LGLVVGLDYQ NPYLSPFREF QRWKHHPSIR
360 370 380 390 400
PTLEGGKRIA YGARALNEGG FQSIPKLTFP GGLLIGCSPG FMNVPKIKGT
410 420 430 440 450
HTAMKSGILA AESIFNQLTS ENLQSKTIGL HVTEYEDNLK NSWVWKELYS
460 470 480 490 500
VRNIRPSCHG VLGVYGGMIY TGIFYWILRG MEPWTLKHKG SDFERLKPAK
510 520 530 540 550
DCTPIEYPKP DGQISFDLLS SVALSGTNHE HDQPAHLTLR DDSIPVNRNL
560 570 580 590 600
SIYDGPEQRF CPAGVYEFVP VEQGDGFRLQ INAQNCVHCK TCDIKDPSQN
610
INWVVPEGGG GPAYNGM
Length:617
Mass (Da):68,495
Last modified:March 23, 2010 - v2
Checksum:i099EBA36C59AF3D6
GO
Isoform 2 (identifier: Q16134-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     12-58: Missing.

Note: No experimental confirmation available.
Show »
Length:570
Mass (Da):62,825
Checksum:i9F62F0271FA24BB0
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RJF8D6RJF8_HUMAN
Electron transfer flavoprotein-ubiq...
ETFDH
38Annotation score:
D6RAD5D6RAD5_HUMAN
Electron transfer flavoprotein-ubiq...
ETFDH
164Annotation score:

Sequence cautioni

The sequence CAD98030 differs from that shown. Aberrant splicing.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti109I → V in CAD98030 (PubMed:17974005).Curated1
Sequence conflicti456P → S in BAG65581 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07543816F → C1 Publication1
Natural variantiVAR_06296631T → I4 PublicationsCorresponds to variant dbSNP:rs11559290EnsemblClinVar.1
Natural variantiVAR_07543949Y → C in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_07544082S → F in GA2C. 1 PublicationCorresponds to variant dbSNP:rs887871605Ensembl.1
Natural variantiVAR_07544182S → P in GA2C. 1 Publication1
Natural variantiVAR_07544284A → T in GA2C. 2 PublicationsCorresponds to variant dbSNP:rs121964954EnsemblClinVar.1
Natural variantiVAR_05571194H → R. Corresponds to variant dbSNP:rs1140065Ensembl.1
Natural variantiVAR_075443112H → Y in GA2C. 1 Publication1
Natural variantiVAR_075444127L → H in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964956EnsemblClinVar.1
Natural variantiVAR_075445138L → R in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779896449EnsemblClinVar.1
Natural variantiVAR_075446175R → H in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964955EnsemblClinVar.1
Natural variantiVAR_075447175R → L in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964955EnsemblClinVar.1
Natural variantiVAR_075448218D → N in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748289922Ensembl.1
Natural variantiVAR_075449222Q → P in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075450262L → F in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075451334L → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377686388EnsemblClinVar.1
Natural variantiVAR_075452346H → R in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075453377L → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs387907170EnsemblClinVar.1
Natural variantiVAR_075454452R → K in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075455456P → L in GA2C. 2 PublicationsCorresponds to variant dbSNP:rs398124152EnsemblClinVar.1
Natural variantiVAR_075456456P → T in GA2C. 1 Publication1
Natural variantiVAR_075457483P → L in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377656387EnsemblClinVar.1
Natural variantiVAR_075458562P → L in GA2C. 1 PublicationCorresponds to variant dbSNP:rs993314323Ensembl.1
Natural variantiVAR_036134565V → L in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs769893690Ensembl.1
Natural variantiVAR_075459590K → E in GA2C. 1 Publication1
Natural variantiVAR_075460611G → E in GA2C. 1 PublicationCorresponds to variant dbSNP:rs761669036EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05515812 – 58Missing in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S69232 mRNA Translation: AAC60628.1
AK304838 mRNA Translation: BAG65581.1
BX538129 mRNA Translation: CAD98030.1 Sequence problems.
AC107219 Genomic DNA No translation available.
BC011890 mRNA Translation: AAH11890.1
CCDSiCCDS3800.1 [Q16134-1]
CCDS64090.1 [Q16134-3]
PIRiS41115
RefSeqiNP_001268666.1, NM_001281737.1 [Q16134-3]
NP_004444.2, NM_004453.3 [Q16134-1]
UniGeneiHs.155729

Genome annotation databases

EnsembliENST00000307738; ENSP00000303552; ENSG00000171503 [Q16134-3]
ENST00000511912; ENSP00000426638; ENSG00000171503 [Q16134-1]
GeneIDi2110
KEGGihsa:2110
UCSCiuc003iqb.5 human [Q16134-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S69232 mRNA Translation: AAC60628.1
AK304838 mRNA Translation: BAG65581.1
BX538129 mRNA Translation: CAD98030.1 Sequence problems.
AC107219 Genomic DNA No translation available.
BC011890 mRNA Translation: AAH11890.1
CCDSiCCDS3800.1 [Q16134-1]
CCDS64090.1 [Q16134-3]
PIRiS41115
RefSeqiNP_001268666.1, NM_001281737.1 [Q16134-3]
NP_004444.2, NM_004453.3 [Q16134-1]
UniGeneiHs.155729

3D structure databases

ProteinModelPortaliQ16134
SMRiQ16134
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108411, 4 interactors
IntActiQ16134, 11 interactors
STRINGi9606.ENSP00000426638

PTM databases

iPTMnetiQ16134
PhosphoSitePlusiQ16134
SwissPalmiQ16134

Polymorphism and mutation databases

BioMutaiETFDH
DMDMi292495008

Proteomic databases

EPDiQ16134
MaxQBiQ16134
PaxDbiQ16134
PeptideAtlasiQ16134
PRIDEiQ16134
ProteomicsDBi60832

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307738; ENSP00000303552; ENSG00000171503 [Q16134-3]
ENST00000511912; ENSP00000426638; ENSG00000171503 [Q16134-1]
GeneIDi2110
KEGGihsa:2110
UCSCiuc003iqb.5 human [Q16134-1]

Organism-specific databases

CTDi2110
DisGeNETi2110
EuPathDBiHostDB:ENSG00000171503.11
GeneCardsiETFDH
H-InvDBiHIX0200647
HGNCiHGNC:3483 ETFDH
HPAiHPA041978
MalaCardsiETFDH
MIMi231675 gene
231680 phenotype
neXtProtiNX_Q16134
OpenTargetsiENSG00000171503
Orphaneti394532 Multiple acyl-CoA dehydrogenase deficiency, mild type
394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
PharmGKBiPA27899
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2415 Eukaryota
COG0644 LUCA
GeneTreeiENSGT00390000010773
HOGENOMiHOG000259450
HOVERGENiHBG005615
InParanoidiQ16134
KOiK00311
OMAiVINSQNC
OrthoDBiEOG091G03C7
PhylomeDBiQ16134
TreeFamiTF105687

Enzyme and pathway databases

BioCyciMetaCyc:HS10326-MONOMER
BRENDAi1.5.5.1 2681
ReactomeiR-HSA-611105 Respiratory electron transport

Miscellaneous databases

ChiTaRSiETFDH human
GeneWikiiETFDH
GenomeRNAii2110
PROiPR:Q16134
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171503 Expressed in 218 organ(s), highest expression level in apex of heart
CleanExiHS_ETFDH
ExpressionAtlasiQ16134 baseline and differential
GenevisibleiQ16134 HS

Family and domain databases

Gene3Di3.50.50.60, 1 hit
InterProiView protein in InterPro
IPR017896 4Fe4S_Fe-S-bd
IPR036188 FAD/NAD-bd_sf
IPR000103 Pyridine_nuc-diS_OxRdtase_2
PRINTSiPR00469 PNDRDTASEII
SUPFAMiSSF51905 SSF51905, 1 hit
PROSITEiView protein in PROSITE
PS51379 4FE4S_FER_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiETFD_HUMAN
AccessioniPrimary (citable) accession number: Q16134
Secondary accession number(s): B4E3R9, J3KND9, Q7Z347
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: March 23, 2010
Last modified: November 7, 2018
This is version 174 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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