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Reviewed, UniProtKB/Swiss-Prot Q16134 (ETFD_HUMAN)

Last modified July 7, 2009. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
      Short name=ETF-ubiquinone oxidoreductase
      Short name=ETF-QO
    EC=1.5.5.1
Alternative name(s):
    Electron-transferring-flavoprotein dehydrogenase
      Short name=ETF dehydrogenase
Gene names
Name: ETFDH
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length617 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Accepts electrons from ETF and reduces ubiquinone.

Catalytic activity

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

Cofactor

Binds 1 4Fe-4S cluster.

FAD.

Subunit structure

Monomer.

Subcellular location

Mitochondrion inner membrane.

Involvement in disease

Defects in ETFDH are the cause of glutaric aciduria type 2C (GA2C) [MIM:231680]. GA2C is an 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.

Sequence similarities

Belongs to the ETF-QO/fixC family.

Contains 1 4Fe-4S ferredoxin-type domain.

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Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q16134-1)

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.
Isoform 2 (identifier: Q16134-2)

The sequence of this isoform differs from the canonical sequence as follows:
     88-103: Missing.
     163-179: Missing.
Note: No experimental confirmation available.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3333Mitochondrion Potential
Chain34 – 617584Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
PRO_0000008661

Regions

Transmembrane458 – 47821 Potential
Domain577 – 606304Fe-4S ferredoxin-type
Nucleotide binding71 – 8515FAD Potential

Sites

Metal binding5611Iron-sulfur (4Fe-4S) Potential
Metal binding5861Iron-sulfur (4Fe-4S) Potential
Metal binding5891Iron-sulfur (4Fe-4S) Potential
Metal binding5921Iron-sulfur (4Fe-4S) Potential

Amino acid modifications

Modified residue961N6-acetyllysine By similarity
Modified residue1531N6-acetyllysine By similarity
Modified residue2231N6-acetyllysine By similarity
Modified residue3441N6-acetyllysine By similarity

Natural variations

Alternative sequence88 – 10316Missing in isoform 2.
VSP_011553
Alternative sequence163 – 17917Missing in isoform 2.
VSP_011554
Natural variant941H → R: dbSNP rs1140065.
VAR_055711
Natural variant5651V → L in a colorectal cancer sample; somatic mutation. Ref.5
VAR_036134

Experimental info

Sequence conflict1091I → V in CAD98030. Ref.2

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Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1997. Version 1.
Checksum: 776E8EA544C12957

FASTA61768,507
        10         20         30         40         50         60 
MLVPLAKLSC LAYQCFHALK IKKNYLPLCA IRWSSTSTVP RITTHYTIYP RDKDKRWEGV 

        70         80         90        100        110        120 
NMERFAEEAD VVIVGAGPAG LSAAVRLKQL AVAHEKDIRV CLVEKAAQIG AHTLSGACLD 

       130        140        150        160        170        180 
PGAFKELFPD WKEKGAPLNT PVTEDRFGIL TEKYRIPVPI LPGLPMNNHG NYIVRLGHLV 

       190        200        210        220        230        240 
SWMGEQAEAL GVEVYPGYAA AEVLFHDDGS VKGIATNDVG IQKDGAPKAT FERGLELHAK 

       250        260        270        280        290        300 
VTIFAEGCHG HLAKQLYKKF DLRANCEPQT YGIGLKELWV IDEKNWKPGR VDHTVGWPLD 

       310        320        330        340        350        360 
RHTYGGSFLY HLNEGEPLVA LGLVVGLDYQ NPYLSPFREF QRWKHHPSIR PTLEGGKRIA 

       370        380        390        400        410        420 
YGARALNEGG FQSIPKLTFP GGLLIGCSPG FMNVPKIKGT HTAMKSGILA AESIFNQLTS 

       430        440        450        460        470        480 
ENLQSKTIGL HVTEYEDNLK NSWVWKELYS VRNIRPSCHG VLGVYGGMIY TGIFYWILRG 

       490        500        510        520        530        540 
MEPWTLKHKG SDFERLKPAK DCTPIEYPKP DGQISFDLLS SVALSGTNHE HDQPAHLTLR 

       550        560        570        580        590        600 
DDSIPVNRNL SIYDGPEQRF CPAGVYEFVP VEQGDGFRLQ INAQNCVHCK TCDIKDPSQN 

       610 
INWVVPEGGG GPAYNGM

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Isoform 2.

Checksum: 4293718AB22AA3A3
Show »

FASTA58464,816

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References

« Hide 'large scale' references
[1]"Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase."
Goodman S.I., Axtell K.M., Bindoff L.A., Beard S.E., Gill R.E., Frerman F.E.
Eur. J. Biochem. 219:277-286(1994) [PubMed: 8306995] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Fetal liver.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Small intestine.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung.
[4]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-565.
+Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases

S69232 mRNA. Translation: AAC60628.1.
BX538129 mRNA. Translation: CAD98030.1.
BC011890 mRNA. Translation: AAH11890.1.
IPIIPI00032875.
IPI00455179.
PIRS41115.
RefSeqNP_004444.2.
UniGeneHs.155729

3D structure databases

SMRQ16134. Positions 39-617.
ModBaseSearch...

PTM databases

PhosphoSiteQ16134.

Proteomic databases

PRIDEQ16134.

Genome annotation databases

EnsemblENSG00000171503. Homo sapiens. [Contig view]
GeneID2110.
KEGGhsa:2110.

Organism-specific databases

GeneCardsGC04P159812.
H-InvDBHIX0004598.
HGNCHGNC:3483. ETFDH.
MIM231675. gene.
231680. phenotype.
Orphanet25. Glutaryl-CoA dehydrogenase deficiency.
26791. Multiple FAD dehydrogenase deficiency.
PharmGKBPA27899.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ16134.
HOVERGENQ16134.

Enzyme and pathway databases

BRENDA1.5.5.1. 247.
ReactomeREACT_1505. Integration of energy metabolism.
REACT_15380. Diabetes pathways.

Gene expression databases

ArrayExpressQ16134.
BgeeQ16134.
CleanExHS_ETFDH.
GermOnlineENSG00000171503. Homo sapiens.

Family and domain databases

InterProIPR017896. 4Fe4S_Fe-S-bd.
IPR007859. ETFD_OxRdtase.
IPR013027. FAD_pyr_nucl-diS_OxRdtase.
IPR000103. Pyridine_nuc-diS_OxRdtase_2.
[Graphical view]
PfamPF05187. ETF_QO. 1 hit.
PF07992. Pyr_redox_2. 1 hit.
[Graphical view]
PRINTSPR00469. PNDRDTASEII.
PROSITEPS51379. 4FE4S_FER_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio8533.
SOURCESearch...

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Entry information

Entry nameETFD_HUMAN
AccessionPrimary (citable) accession number: Q16134
Secondary accession number(s): Q7Z347
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: July 7, 2009
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents