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Q16134

- ETFD_HUMAN

UniProt

Q16134 - ETFD_HUMAN

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Protein

Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial

Gene
ETFDH
Organism
Homo sapiens (Human)
Status
Reviewed - 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

Binds 1 4Fe-4S cluster.
FAD.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei305 – 3051Ubiquinone; via carbonyl oxygen By similarity
Binding sitei306 – 3061Ubiquinone; via amide nitrogen By similarity
Metal bindingi561 – 5611Iron-sulfur (4Fe-4S) Reviewed prediction
Metal bindingi586 – 5861Iron-sulfur (4Fe-4S) Reviewed prediction
Metal bindingi589 – 5891Iron-sulfur (4Fe-4S) Reviewed prediction
Metal bindingi592 – 5921Iron-sulfur (4Fe-4S) Reviewed prediction

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi71 – 8515FAD Reviewed predictionAdd
BLAST

GO - Molecular functioni

  1. 4 iron, 4 sulfur cluster binding Source: UniProtKB
  2. electron carrier activity Source: UniProtKB
  3. electron-transferring-flavoprotein dehydrogenase activity Source: InterPro
  4. flavin adenine dinucleotide binding Source: UniProtKB
  5. iron-sulfur cluster binding Source: InterPro
  6. metal ion binding Source: UniProtKB-KW
  7. oxidoreductase activity Source: UniProtKB
  8. oxidoreductase activity, oxidizing metal ions with flavin as acceptor Source: UniProtKB
  9. quinone binding Source: UniProtKB
  10. ubiquinone binding Source: UniProtKB

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. electron transport chain Source: UniProtKB
  3. fatty acid beta-oxidation using acyl-CoA dehydrogenase Source: BHF-UCL
  4. respiratory electron transport chain Source: Reactome
  5. response to oxidative stress Source: UniProtKB
  6. small molecule metabolic process Source: Reactome
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.
ReactomeiREACT_22393. 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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:3483. ETFDH.

Subcellular locationi

Topology

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

GO - Cellular componenti

  1. integral component of mitochondrial inner membrane Source: UniProtKB
  2. mitochondrial matrix Source: Reactome
  3. mitochondrial membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Glutaric aciduria 2C (GA2C) [MIM:231680]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Glutaricaciduria

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei96 – 961N6-acetyllysine By similarity
Modified residuei132 – 1321N6-acetyllysine By similarity
Modified residuei223 – 2231N6-acetyllysine By similarity
Modified residuei357 – 3571N6-acetyllysine By similarity
Modified residuei551 – 5511Phosphoserine By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ16134.
PaxDbiQ16134.
PRIDEiQ16134.

PTM databases

PhosphoSiteiQ16134.

Expressioni

Gene expression databases

ArrayExpressiQ16134.
BgeeiQ16134.
CleanExiHS_ETFDH.
GenevestigatoriQ16134.

Organism-specific databases

HPAiHPA041978.

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

BioGridi108411. 3 interactions.
IntActiQ16134. 1 interaction.
STRINGi9606.ENSP00000303552.

Structurei

3D structure databases

ProteinModelPortaliQ16134.
SMRiQ16134. Positions 39-617.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Belongs to the ETF-QO/FixC family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0644.
HOGENOMiHOG000259450.
HOVERGENiHBG005615.
InParanoidiQ16134.
KOiK00311.
OMAiEKDIRVC.
OrthoDBiEOG7WX07W.
PhylomeDBiQ16134.
TreeFamiTF105687.

Family and domain databases

InterProiIPR017896. 4Fe4S_Fe-S-bd.
IPR007859. ETFD_OxRdtase.
IPR000103. Pyridine_nuc-diS_OxRdtase_2.
[Graphical view]
PfamiPF05187. ETF_QO. 1 hit.
[Graphical view]
PRINTSiPR00469. PNDRDTASEII.
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. Align

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

MLVPLAKLSC LAYQCFHALK IKKNYLPLCA TRWSSTSTVP RITTHYTIYP    50
RDKDKRWEGV NMERFAEEAD VVIVGAGPAG LSAAVRLKQL AVAHEKDIRV 100
CLVEKAAQIG AHTLSGACLD PGAFKELFPD WKEKGAPLNT PVTEDRFGIL 150
TEKYRIPVPI LPGLPMNNHG NYIVRLGHLV SWMGEQAEAL GVEVYPGYAA 200
AEVLFHDDGS VKGIATNDVG IQKDGAPKAT FERGLELHAK VTIFAEGCHG 250
HLAKQLYKKF DLRANCEPQT YGIGLKELWV IDEKNWKPGR VDHTVGWPLD 300
RHTYGGSFLY HLNEGEPLVA LGLVVGLDYQ NPYLSPFREF QRWKHHPSIR 350
PTLEGGKRIA YGARALNEGG FQSIPKLTFP GGLLIGCSPG FMNVPKIKGT 400
HTAMKSGILA AESIFNQLTS ENLQSKTIGL HVTEYEDNLK NSWVWKELYS 450
VRNIRPSCHG VLGVYGGMIY TGIFYWILRG MEPWTLKHKG SDFERLKPAK 500
DCTPIEYPKP DGQISFDLLS SVALSGTNHE HDQPAHLTLR DDSIPVNRNL 550
SIYDGPEQRF CPAGVYEFVP VEQGDGFRLQ INAQNCVHCK TCDIKDPSQN 600
INWVVPEGGG GPAYNGM 617
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. Reason: Aberrant splicing.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311T → I.3 Publications
Corresponds to variant rs11559290 [ dbSNP | Ensembl ].
VAR_062966
Natural varianti94 – 941H → R.
Corresponds to variant rs1140065 [ dbSNP | Ensembl ].
VAR_055711
Natural varianti565 – 5651V → L in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036134

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei12 – 5847Missing in isoform 2. VSP_055158Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti109 – 1091I → V in CAD98030. 1 Publication
Sequence conflicti456 – 4561P → S in BAG65581. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
PIRiS41115.
RefSeqiNP_001268666.1. NM_001281737.1.
NP_004444.2. NM_004453.3.
UniGeneiHs.155729.

Genome annotation databases

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

Polymorphism databases

DMDMi292495008.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3800.1. [Q16134-1 ]
PIRi S41115.
RefSeqi NP_001268666.1. NM_001281737.1.
NP_004444.2. NM_004453.3.
UniGenei Hs.155729.

3D structure databases

ProteinModelPortali Q16134.
SMRi Q16134. Positions 39-617.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108411. 3 interactions.
IntActi Q16134. 1 interaction.
STRINGi 9606.ENSP00000303552.

PTM databases

PhosphoSitei Q16134.

Polymorphism databases

DMDMi 292495008.

Proteomic databases

MaxQBi Q16134.
PaxDbi Q16134.
PRIDEi Q16134.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000307738 ; ENSP00000303552 ; ENSG00000171503 .
ENST00000511912 ; ENSP00000426638 ; ENSG00000171503 .
GeneIDi 2110.
KEGGi hsa:2110.
UCSCi uc003iqb.3. human. [Q16134-1 ]

Organism-specific databases

CTDi 2110.
GeneCardsi GC04P159593.
H-InvDB HIX0200647.
HGNCi HGNC:3483. ETFDH.
HPAi HPA041978.
MIMi 231675. gene.
231680. phenotype.
neXtProti NX_Q16134.
Orphaneti 394532. Multiple acyl-CoA dehydrogenation deficiency, mild type.
394529. Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type.
PharmGKBi PA27899.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0644.
HOGENOMi HOG000259450.
HOVERGENi HBG005615.
InParanoidi Q16134.
KOi K00311.
OMAi EKDIRVC.
OrthoDBi EOG7WX07W.
PhylomeDBi Q16134.
TreeFami TF105687.

Enzyme and pathway databases

BioCyci MetaCyc:HS10326-MONOMER.
BRENDAi 1.5.5.1. 2681.
Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSi ETFDH. human.
GeneWikii ETFDH.
GenomeRNAii 2110.
NextBioi 35477610.
PROi Q16134.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q16134.
Bgeei Q16134.
CleanExi HS_ETFDH.
Genevestigatori Q16134.

Family and domain databases

InterProi IPR017896. 4Fe4S_Fe-S-bd.
IPR007859. ETFD_OxRdtase.
IPR000103. Pyridine_nuc-diS_OxRdtase_2.
[Graphical view ]
Pfami PF05187. ETF_QO. 1 hit.
[Graphical view ]
PRINTSi PR00469. PNDRDTASEII.
PROSITEi PS51379. 4FE4S_FER_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-565.

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: September 3, 2014
This is version 141 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

External Data

Dasty 3

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