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Protein

Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial

Gene

ETFDH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei305 – 3051Ubiquinone; via carbonyl oxygenBy similarity
Binding sitei306 – 3061Ubiquinone; via amide nitrogenBy similarity
Metal bindingi561 – 5611Iron-sulfur (4Fe-4S)Sequence analysis
Metal bindingi586 – 5861Iron-sulfur (4Fe-4S)Sequence analysis
Metal bindingi589 – 5891Iron-sulfur (4Fe-4S)Sequence analysis
Metal bindingi592 – 5921Iron-sulfur (4Fe-4S)Sequence analysis

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi71 – 8515FADSequence analysisAdd
BLAST

GO - Molecular functioni

  • 4 iron, 4 sulfur cluster binding Source: UniProtKB
  • electron carrier activity Source: UniProtKB
  • electron-transferring-flavoprotein dehydrogenase activity Source: UniProtKB
  • flavin adenine dinucleotide binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • oxidoreductase activity Source: UniProtKB
  • oxidoreductase activity, oxidizing metal ions with flavin as acceptor Source: UniProtKB
  • quinone binding Source: UniProtKB
  • ubiquinone binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Transport

Keywords - Ligandi

4Fe-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

HGNCiHGNC:3483. ETFDH.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei109 – 13022By similarityAdd
BLAST
Intramembranei428 – 44720By similarityAdd
BLAST

GO - Cellular componenti

  • integral component of mitochondrial inner membrane Source: UniProtKB
  • mitochondrial matrix Source: Reactome
  • mitochondrial membrane Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491Y → C in GA2C; unknown pathological significance. 1 Publication
VAR_075439
Natural varianti82 – 821S → F in GA2C. 1 Publication
VAR_075440
Natural varianti82 – 821S → P in GA2C. 1 Publication
VAR_075441
Natural varianti84 – 841A → T in GA2C. 2 Publications
VAR_075442
Natural varianti112 – 1121H → Y in GA2C. 1 Publication
VAR_075443
Natural varianti127 – 1271L → H in GA2C. 1 Publication
VAR_075444
Natural varianti138 – 1381L → R in GA2C; unknown pathological significance. 1 Publication
VAR_075445
Natural varianti175 – 1751R → H in GA2C. 1 Publication
VAR_075446
Natural varianti175 – 1751R → L in GA2C. 1 Publication
VAR_075447
Natural varianti218 – 2181D → N in GA2C; unknown pathological significance. 1 Publication
VAR_075448
Natural varianti222 – 2221Q → P in GA2C; unknown pathological significance. 1 Publication
VAR_075449
Natural varianti262 – 2621L → F in GA2C; unknown pathological significance. 1 Publication
VAR_075450
Natural varianti334 – 3341L → P in GA2C; unknown pathological significance. 1 Publication
VAR_075451
Natural varianti346 – 3461H → R in GA2C; unknown pathological significance. 1 Publication
VAR_075452
Natural varianti377 – 3771L → P in GA2C; unknown pathological significance. 1 Publication
VAR_075453
Natural varianti452 – 4521R → K in GA2C; unknown pathological significance. 1 Publication
VAR_075454
Natural varianti456 – 4561P → L in GA2C. 2 Publications
VAR_075455
Natural varianti456 – 4561P → T in GA2C. 1 Publication
VAR_075456
Natural varianti483 – 4831P → L in GA2C; unknown pathological significance. 1 Publication
VAR_075457
Natural varianti562 – 5621P → L in GA2C. 1 Publication
VAR_075458
Natural varianti590 – 5901K → E in GA2C. 1 Publication
VAR_075459
Natural varianti611 – 6111G → E in GA2C. 1 Publication
VAR_075460

Keywords - Diseasei

Disease mutation, Glutaricaciduria

Organism-specific databases

MalaCardsiETFDH.
MIMi231680. phenotype.
Orphaneti394532. Multiple acyl-CoA dehydrogenation deficiency, mild type.
394529. Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type.
PharmGKBiPA27899.

Polymorphism and mutation databases

BioMutaiETFDH.
DMDMi292495008.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3333MitochondrionSequence analysisAdd
BLAST
Chaini34 – 617584Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrialPRO_0000008661Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei96 – 961N6-acetyllysineBy similarity
Modified residuei132 – 1321N6-acetyllysineBy similarity
Modified residuei223 – 2231N6-acetyllysineBy similarity
Modified residuei357 – 3571N6-acetyllysineBy similarity
Modified residuei551 – 5511PhosphoserineCombined sources

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ16134.
MaxQBiQ16134.
PaxDbiQ16134.
PRIDEiQ16134.

PTM databases

iPTMnetiQ16134.
PhosphoSiteiQ16134.

Expressioni

Gene expression databases

BgeeiQ16134.
CleanExiHS_ETFDH.
ExpressionAtlasiQ16134. baseline and differential.
GenevisibleiQ16134. HS.

Organism-specific databases

HPAiHPA041978.

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

BioGridi108411. 2 interactions.
IntActiQ16134. 1 interaction.
STRINGi9606.ENSP00000426638.

Structurei

3D structure databases

ProteinModelPortaliQ16134.
SMRiQ16134. Positions 39-617.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini577 – 606304Fe-4S ferredoxin-typePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the ETF-QO/FixC family.Curated
Contains 1 4Fe-4S ferredoxin-type domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2415. Eukaryota.
COG0644. LUCA.
GeneTreeiENSGT00390000010773.
HOGENOMiHOG000259450.
HOVERGENiHBG005615.
InParanoidiQ16134.
KOiK00311.
OMAiLRGMEPW.
OrthoDBiEOG7WX07W.
PhylomeDBiQ16134.
TreeFamiTF105687.

Family and domain databases

Gene3Di3.50.50.60. 1 hit.
InterProiIPR017896. 4Fe4S_Fe-S-bd.
IPR007859. ETFD_OxRdtase/FixX.
IPR023753. FAD/NAD-binding_dom.
IPR000103. Pyridine_nuc-diS_OxRdtase_2.
[Graphical view]
PANTHERiPTHR10617:SF107. PTHR10617:SF107. 1 hit.
PfamiPF05187. ETF_QO. 1 hit.
[Graphical view]
PRINTSiPR00469. PNDRDTASEII.
SUPFAMiSSF51905. SSF51905. 2 hits.
PROSITEiPS51379. 4FE4S_FER_2. 1 hit.
[Graphical view]

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

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

Sequence cautioni

The sequence CAD98030.1 differs from that shown.Aberrant splicing.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti109 – 1091I → V in CAD98030 (PubMed:17974005).Curated
Sequence conflicti456 – 4561P → S in BAG65581 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161F → C.1 Publication
VAR_075438
Natural varianti31 – 311T → I.4 Publications
Corresponds to variant rs11559290 [ dbSNP | Ensembl ].
VAR_062966
Natural varianti49 – 491Y → C in GA2C; unknown pathological significance. 1 Publication
VAR_075439
Natural varianti82 – 821S → F in GA2C. 1 Publication
VAR_075440
Natural varianti82 – 821S → P in GA2C. 1 Publication
VAR_075441
Natural varianti84 – 841A → T in GA2C. 2 Publications
VAR_075442
Natural varianti94 – 941H → R.
Corresponds to variant rs1140065 [ dbSNP | Ensembl ].
VAR_055711
Natural varianti112 – 1121H → Y in GA2C. 1 Publication
VAR_075443
Natural varianti127 – 1271L → H in GA2C. 1 Publication
VAR_075444
Natural varianti138 – 1381L → R in GA2C; unknown pathological significance. 1 Publication
VAR_075445
Natural varianti175 – 1751R → H in GA2C. 1 Publication
VAR_075446
Natural varianti175 – 1751R → L in GA2C. 1 Publication
VAR_075447
Natural varianti218 – 2181D → N in GA2C; unknown pathological significance. 1 Publication
VAR_075448
Natural varianti222 – 2221Q → P in GA2C; unknown pathological significance. 1 Publication
VAR_075449
Natural varianti262 – 2621L → F in GA2C; unknown pathological significance. 1 Publication
VAR_075450
Natural varianti334 – 3341L → P in GA2C; unknown pathological significance. 1 Publication
VAR_075451
Natural varianti346 – 3461H → R in GA2C; unknown pathological significance. 1 Publication
VAR_075452
Natural varianti377 – 3771L → P in GA2C; unknown pathological significance. 1 Publication
VAR_075453
Natural varianti452 – 4521R → K in GA2C; unknown pathological significance. 1 Publication
VAR_075454
Natural varianti456 – 4561P → L in GA2C. 2 Publications
VAR_075455
Natural varianti456 – 4561P → T in GA2C. 1 Publication
VAR_075456
Natural varianti483 – 4831P → L in GA2C; unknown pathological significance. 1 Publication
VAR_075457
Natural varianti562 – 5621P → L in GA2C. 1 Publication
VAR_075458
Natural varianti565 – 5651V → L in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036134
Natural varianti590 – 5901K → E in GA2C. 1 Publication
VAR_075459
Natural varianti611 – 6111G → E in GA2C. 1 Publication
VAR_075460

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei12 – 5847Missing in isoform 2. 1 PublicationVSP_055158Add
BLAST

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

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. Positions 39-617.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108411. 2 interactions.
IntActiQ16134. 1 interaction.
STRINGi9606.ENSP00000426638.

PTM databases

iPTMnetiQ16134.
PhosphoSiteiQ16134.

Polymorphism and mutation databases

BioMutaiETFDH.
DMDMi292495008.

Proteomic databases

EPDiQ16134.
MaxQBiQ16134.
PaxDbiQ16134.
PRIDEiQ16134.

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.
GeneCardsiETFDH.
H-InvDBHIX0200647.
HGNCiHGNC:3483. ETFDH.
HPAiHPA041978.
MalaCardsiETFDH.
MIMi231675. gene.
231680. phenotype.
neXtProtiNX_Q16134.
Orphaneti394532. Multiple acyl-CoA dehydrogenation deficiency, mild type.
394529. Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type.
PharmGKBiPA27899.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2415. Eukaryota.
COG0644. LUCA.
GeneTreeiENSGT00390000010773.
HOGENOMiHOG000259450.
HOVERGENiHBG005615.
InParanoidiQ16134.
KOiK00311.
OMAiLRGMEPW.
OrthoDBiEOG7WX07W.
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.
NextBioi35477610.
PROiQ16134.
SOURCEiSearch...

Gene expression databases

BgeeiQ16134.
CleanExiHS_ETFDH.
ExpressionAtlasiQ16134. baseline and differential.
GenevisibleiQ16134. HS.

Family and domain databases

Gene3Di3.50.50.60. 1 hit.
InterProiIPR017896. 4Fe4S_Fe-S-bd.
IPR007859. ETFD_OxRdtase/FixX.
IPR023753. FAD/NAD-binding_dom.
IPR000103. Pyridine_nuc-diS_OxRdtase_2.
[Graphical view]
PANTHERiPTHR10617:SF107. PTHR10617:SF107. 1 hit.
PfamiPF05187. ETF_QO. 1 hit.
[Graphical view]
PRINTSiPR00469. PNDRDTASEII.
SUPFAMiSSF51905. SSF51905. 2 hits.
PROSITEiPS51379. 4FE4S_FER_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-31.
    Tissue: Fetal liver.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Uterus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-31.
    Tissue: Small intestine.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-31.
    Tissue: Lung.
  6. "Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency."
    Olsen R.K.J., Andresen B.S., Christensen E., Bross P., Skovby F., Gregersen N.
    Hum. Mutat. 22:12-23(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN GA2C.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-551, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene."
    Goodman S.I., Binard R.J., Woontner M.R., Frerman F.E.
    Mol. Genet. Metab. 77:86-90(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GA2C CYS-49; PHE-82; PRO-82; ARG-138; ASN-218; PRO-222; PHE-262; PRO-334; ARG-346; LYS-452; LEU-456; LEU-562 AND GLU-611, VARIANTS CYS-16 AND ILE-31.
  11. "So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager."
    Beresford M.W., Pourfarzam M., Turnbull D.M., Davidson J.E.
    Neuromuscul. Disord. 16:269-273(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GA2C TYR-112 AND THR-456.
  12. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-565.
  13. "The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene."
    Gempel K., Topaloglu H., Talim B., Schneiderat P., Schoser B.G., Hans V.H., Palmafy B., Kale G., Tokatli A., Quinzii C., Hirano M., Naini A., DiMauro S., Prokisch H., Lochmueller H., Horvath R.
    Brain 130:2037-2044(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GA2C PRO-377; LEU-456; LEU-483 AND GLU-590.
  14. "ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency."
    Liang W.C., Ohkuma A., Hayashi Y.K., Lopez L.C., Hirano M., Nonaka I., Noguchi S., Chen L.H., Jong Y.J., Nishino I.
    Neuromuscul. Disord. 19:212-216(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GA2C THR-84; HIS-127 AND LEU-175.
  15. "High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy."
    Lan M.Y., Fu M.H., Liu Y.F., Huang C.C., Chang Y.Y., Liu J.S., Peng C.H., Chen S.S.
    Clin. Genet. 78:565-569(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GA2C THR-84 AND HIS-175.

Entry informationi

Entry nameiETFD_HUMAN
AccessioniPrimary (citable) accession number: Q16134
Secondary accession number(s): B4E3R9, J3KND9, Q7Z347
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: March 23, 2010
Last modified: May 11, 2016
This is version 156 of the entry and version 2 of the sequence. [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. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.