UniProtKB - P38117 (ETFB_HUMAN)
Protein
Electron transfer flavoprotein subunit beta
Gene
ETFB
Organism
Homo sapiens (Human)
Status
Functioni
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:25416781, PubMed:15159392, PubMed:15975918). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:7912128). ETFB binds an AMP molecule that probably has a purely structural role (PubMed:8962055, PubMed:15159392, PubMed:15975918).1 PublicationCurated6 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 9 | AMP; via carbonyl oxygenCombined sources3 Publications | 1 | |
Binding sitei | 66 | AMP; via amide nitrogen and carbonyl oxygenCombined sources3 Publications | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 39 – 42 | AMPCombined sources3 Publications | 4 | |
Nucleotide bindingi | 123 – 134 | AMPCombined sources3 PublicationsAdd BLAST | 12 |
GO - Molecular functioni
- electron transfer activity Source: UniProtKB
GO - Biological processi
- fatty acid beta-oxidation using acyl-CoA dehydrogenase Source: UniProtKB
- respiratory electron transport chain Source: Reactome
Keywordsi
Biological process | Electron transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | P38117 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-8876725, Protein methylation |
Names & Taxonomyi
Protein namesi | Recommended name: Electron transfer flavoprotein subunit betaCuratedShort name: Beta-ETF1 Publication |
Gene namesi | Name:ETFBImported ORF Names:FP585 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3482, ETFB |
MIMi | 130410, gene |
neXtProti | NX_P38117 |
VEuPathDBi | HostDB:ENSG00000105379.9 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix 2 Publications
Mitochondrion
- mitochondrial matrix Source: UniProtKB
- mitochondrion Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Glutaric aciduria 2B (GA2B)2 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025804 | 128 | D → N in GA2B; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs104894678EnsemblClinVar. | 1 | |
Natural variantiVAR_002369 | 164 | R → Q in GA2B; reduced electron transfer activity. 1 PublicationCorresponds to variant dbSNP:rs104894677EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 165 | E → A or Q: Drastically increases interprotein electron transfer rates. 1 Publication | 1 | |
Mutagenesisi | 195 | L → A: Severely impaired in complex formation with ACADM. 1 Publication | 1 | |
Mutagenesisi | 200 – 203 | KAKK → RAKR: Does not abolish electron transfer activity. Abolishes sensitivity to inhibition by lysine methyltransferase ETFBKMT. 1 Publication | 4 | |
Mutagenesisi | 200 – 202 | KAK → RAR: Does not abolish methylation by ETFBKMT. 1 Publication | 3 | |
Mutagenesisi | 200 | K → R: Does not abolish electron transfer activity. Decreases sensitivity to inhibition by lysine methyltransferase ETFBKMT. 1 Publication | 1 | |
Mutagenesisi | 203 | K → R: Does not abolish electron transfer activity. Decreases sensitivity to inhibition by lysine methyltransferase ETFBKMT. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, GlutaricaciduriaOrganism-specific databases
DisGeNETi | 2109 |
MalaCardsi | ETFB |
MIMi | 231680, phenotype |
OpenTargetsi | ENSG00000105379 |
Orphaneti | 394532, Multiple acyl-CoA dehydrogenase deficiency, mild type 394529, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
PharmGKBi | PA27898 |
Miscellaneous databases
Pharosi | P38117, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4105744 |
Genetic variation databases
BioMutai | ETFB |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000167870 | 2 – 255 | Electron transfer flavoprotein subunit betaAdd BLAST | 254 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 200 | N6,N6,N6-trimethyllysine; by ETFBKMT; alternate2 Publications | 1 | |
Modified residuei | 200 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 200 | N6-methyllysine; alternateCombined sources | 1 | |
Modified residuei | 203 | N6,N6,N6-trimethyllysine; by ETFBKMT2 Publications | 1 | |
Modified residuei | 210 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 210 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 223 | PhosphoserineCombined sources | 1 | |
Modified residuei | 226 | PhosphoserineCombined sources | 1 | |
Modified residuei | 238 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 248 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 248 | N6-succinyllysine; alternateBy similarity | 1 |
Post-translational modificationi
Methylated. Trimethylation at Lys-200 and Lys-203 may negatively regulate the activity in electron transfer from acyl-CoA dehydrogenases.2 Publications
Keywords - PTMi
Acetylation, Methylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-504 CPTAC-505 |
EPDi | P38117 |
jPOSTi | P38117 |
MassIVEi | P38117 |
MaxQBi | P38117 |
PaxDbi | P38117 |
PeptideAtlasi | P38117 |
PRIDEi | P38117 |
ProteomicsDBi | 55282 [P38117-1] 55283 [P38117-2] |
TopDownProteomicsi | P38117-1 [P38117-1] P38117-2 [P38117-2] |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00004902 |
UCD-2DPAGEi | P38117 |
PTM databases
iPTMneti | P38117 |
PhosphoSitePlusi | P38117 |
SwissPalmi | P38117 |
Expressioni
Tissue specificityi
Abundant in liver, heart and skeletal muscle. A weak expression is seen in the brain, placenta, lung, kidney and pancreas.1 Publication
Gene expression databases
Bgeei | ENSG00000105379, Expressed in heart left ventricle and 249 other tissues |
ExpressionAtlasi | P38117, baseline and differential |
Genevisiblei | P38117, HS |
Organism-specific databases
HPAi | ENSG00000105379, Tissue enhanced (heart muscle, liver) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 108410, 65 interactors |
ComplexPortali | CPX-2731, Mitochondrial electron transfer flavoprotein complex |
DIPi | DIP-6162N |
IntActi | P38117, 57 interactors |
MINTi | P38117 |
STRINGi | 9606.ENSP00000346173 |
Miscellaneous databases
RNActi | P38117, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P38117 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P38117 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 183 – 205 | Recognition loop2 PublicationsAdd BLAST | 23 |
Domaini
The recognition loop recognizes a hydrophobic patch at the surface of interacting dehydrogenases and acts as a static anchor at the interface.1 Publication
Sequence similaritiesi
Belongs to the ETF beta-subunit/FixA family.Curated
Phylogenomic databases
eggNOGi | KOG3180, Eukaryota |
GeneTreei | ENSGT00390000009936 |
HOGENOMi | CLU_060196_0_0_1 |
InParanoidi | P38117 |
OMAi | YNGGMVP |
OrthoDBi | 1092876at2759 |
PhylomeDBi | P38117 |
TreeFami | TF314039 |
Family and domain databases
CDDi | cd01714, ETF_beta, 1 hit |
Gene3Di | 3.40.50.620, 1 hit |
InterProi | View protein in InterPro IPR000049, ET-Flavoprotein_bsu_CS IPR014730, ETF_a/b_N IPR012255, ETF_b IPR033948, ETF_beta_N IPR014729, Rossmann-like_a/b/a_fold |
PANTHERi | PTHR21294, PTHR21294, 1 hit |
Pfami | View protein in Pfam PF01012, ETF, 1 hit |
PIRSFi | PIRSF000090, Beta-ETF, 1 hit |
SMARTi | View protein in SMART SM00893, ETF, 1 hit |
PROSITEi | View protein in PROSITE PS01065, ETF_BETA, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P38117-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAELRVLVAV KRVIDYAVKI RVKPDRTGVV TDGVKHSMNP FCEIAVEEAV
60 70 80 90 100
RLKEKKLVKE VIAVSCGPAQ CQETIRTALA MGADRGIHVE VPPAEAERLG
110 120 130 140 150
PLQVARVLAK LAEKEKVDLV LLGKQAIDDD CNQTGQMTAG FLDWPQGTFA
160 170 180 190 200
SQVTLEGDKL KVEREIDGGL ETLRLKLPAV VTADLRLNEP RYATLPNIMK
210 220 230 240 250
AKKKKIEVIK PGDLGVDLTS KLSVISVEDP PQRTAGVKVE TTEDLVAKLK
EIGRI
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketM0QY67 | M0QY67_HUMAN | Electron transfer flavoprotein subu... | ETFB | 178 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 198 | I → S in CAB37832 (PubMed:7912128).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025804 | 128 | D → N in GA2B; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs104894678EnsemblClinVar. | 1 | |
Natural variantiVAR_008548 | 154 | T → M3 PublicationsCorresponds to variant dbSNP:rs1130426EnsemblClinVar. | 1 | |
Natural variantiVAR_002369 | 164 | R → Q in GA2B; reduced electron transfer activity. 1 PublicationCorresponds to variant dbSNP:rs104894677EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017850 | 1 – 19 | MAELR…DYAVK → MYLSLWVTINTVNLRNTLSG LRGAVTTVGMIKSDVPGTQE WLDERRRQGDLPLPTNSNPV LSLELCDPGQGPAPFQAVVV LIQPGRGLALRPPPSCLFPP DPTPSPPAGQ in isoform 2. 2 PublicationsAdd BLAST | 19 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X71129 mRNA Translation: CAA50441.1 AF436663 , AF436658, AF436659, AF436660, AF436661, AF436662 Genomic DNA Translation: AAN03713.1 AF370381 mRNA Translation: AAQ15217.1 CR456827 mRNA Translation: CAG33108.1 AK055285 mRNA Translation: BAG51494.1 AK291881 mRNA Translation: BAF84570.1 BC093961 mRNA Translation: AAH93961.1 BC093963 mRNA Translation: AAH93963.1 X76067 Genomic DNA Translation: CAB37832.1 |
CCDSi | CCDS12828.1 [P38117-1] CCDS33085.1 [P38117-2] |
PIRi | S32482 |
RefSeqi | NP_001014763.1, NM_001014763.1 [P38117-2] NP_001976.1, NM_001985.2 [P38117-1] |
Genome annotation databases
Ensembli | ENST00000309244; ENSP00000311930; ENSG00000105379 [P38117-1] ENST00000354232; ENSP00000346173; ENSG00000105379 [P38117-2] |
GeneIDi | 2109 |
KEGGi | hsa:2109 |
UCSCi | uc002pwg.4, human [P38117-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X71129 mRNA Translation: CAA50441.1 AF436663 , AF436658, AF436659, AF436660, AF436661, AF436662 Genomic DNA Translation: AAN03713.1 AF370381 mRNA Translation: AAQ15217.1 CR456827 mRNA Translation: CAG33108.1 AK055285 mRNA Translation: BAG51494.1 AK291881 mRNA Translation: BAF84570.1 BC093961 mRNA Translation: AAH93961.1 BC093963 mRNA Translation: AAH93963.1 X76067 Genomic DNA Translation: CAB37832.1 |
CCDSi | CCDS12828.1 [P38117-1] CCDS33085.1 [P38117-2] |
PIRi | S32482 |
RefSeqi | NP_001014763.1, NM_001014763.1 [P38117-2] NP_001976.1, NM_001985.2 [P38117-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1EFV | X-ray | 2.10 | B | 1-255 | [»] | |
1T9G | X-ray | 2.90 | S | 1-255 | [»] | |
2A1T | X-ray | 2.80 | S | 1-255 | [»] | |
2A1U | X-ray | 2.11 | B | 1-255 | [»] | |
SMRi | P38117 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108410, 65 interactors |
ComplexPortali | CPX-2731, Mitochondrial electron transfer flavoprotein complex |
DIPi | DIP-6162N |
IntActi | P38117, 57 interactors |
MINTi | P38117 |
STRINGi | 9606.ENSP00000346173 |
Chemistry databases
ChEMBLi | CHEMBL4105744 |
PTM databases
iPTMneti | P38117 |
PhosphoSitePlusi | P38117 |
SwissPalmi | P38117 |
Genetic variation databases
BioMutai | ETFB |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00004902 |
UCD-2DPAGEi | P38117 |
Proteomic databases
CPTACi | CPTAC-504 CPTAC-505 |
EPDi | P38117 |
jPOSTi | P38117 |
MassIVEi | P38117 |
MaxQBi | P38117 |
PaxDbi | P38117 |
PeptideAtlasi | P38117 |
PRIDEi | P38117 |
ProteomicsDBi | 55282 [P38117-1] 55283 [P38117-2] |
TopDownProteomicsi | P38117-1 [P38117-1] P38117-2 [P38117-2] |
Protocols and materials databases
Antibodypediai | 19013, 235 antibodies |
Genome annotation databases
Ensembli | ENST00000309244; ENSP00000311930; ENSG00000105379 [P38117-1] ENST00000354232; ENSP00000346173; ENSG00000105379 [P38117-2] |
GeneIDi | 2109 |
KEGGi | hsa:2109 |
UCSCi | uc002pwg.4, human [P38117-1] |
Organism-specific databases
CTDi | 2109 |
DisGeNETi | 2109 |
GeneCardsi | ETFB |
HGNCi | HGNC:3482, ETFB |
HPAi | ENSG00000105379, Tissue enhanced (heart muscle, liver) |
MalaCardsi | ETFB |
MIMi | 130410, gene 231680, phenotype |
neXtProti | NX_P38117 |
OpenTargetsi | ENSG00000105379 |
Orphaneti | 394532, Multiple acyl-CoA dehydrogenase deficiency, mild type 394529, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
PharmGKBi | PA27898 |
VEuPathDBi | HostDB:ENSG00000105379.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3180, Eukaryota |
GeneTreei | ENSGT00390000009936 |
HOGENOMi | CLU_060196_0_0_1 |
InParanoidi | P38117 |
OMAi | YNGGMVP |
OrthoDBi | 1092876at2759 |
PhylomeDBi | P38117 |
TreeFami | TF314039 |
Enzyme and pathway databases
PathwayCommonsi | P38117 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-8876725, Protein methylation |
Miscellaneous databases
BioGRID-ORCSi | 2109, 201 hits in 871 CRISPR screens |
ChiTaRSi | ETFB, human |
EvolutionaryTracei | P38117 |
GeneWikii | ETFB |
GenomeRNAii | 2109 |
Pharosi | P38117, Tbio |
PROi | PR:P38117 |
RNActi | P38117, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105379, Expressed in heart left ventricle and 249 other tissues |
ExpressionAtlasi | P38117, baseline and differential |
Genevisiblei | P38117, HS |
Family and domain databases
CDDi | cd01714, ETF_beta, 1 hit |
Gene3Di | 3.40.50.620, 1 hit |
InterProi | View protein in InterPro IPR000049, ET-Flavoprotein_bsu_CS IPR014730, ETF_a/b_N IPR012255, ETF_b IPR033948, ETF_beta_N IPR014729, Rossmann-like_a/b/a_fold |
PANTHERi | PTHR21294, PTHR21294, 1 hit |
Pfami | View protein in Pfam PF01012, ETF, 1 hit |
PIRSFi | PIRSF000090, Beta-ETF, 1 hit |
SMARTi | View protein in SMART SM00893, ETF, 1 hit |
PROSITEi | View protein in PROSITE PS01065, ETF_BETA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ETFB_HUMAN | |
Accessioni | P38117Primary (citable) accession number: P38117 Secondary accession number(s): A8K766 Q9Y3S7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1994 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 210 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families