UniProtKB - P13804 (ETFA_HUMAN)
Electron transfer flavoprotein subunit alpha, mitochondrial
ETFA
Functioni
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 223 | FADCombined sources2 Publications | 1 | |
Binding sitei | 248 | FADCombined sources2 Publications | 1 | |
Binding sitei | 300 | FADCombined sources2 Publications | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 263 – 266 | FADCombined sources2 Publications | 4 | |
Nucleotide bindingi | 281 – 286 | FADCombined sources2 Publications | 6 | |
Nucleotide bindingi | 318 – 319 | FADCombined sources2 Publications | 2 |
GO - Molecular functioni
- electron transfer activity Source: UniProtKB
- flavin adenine dinucleotide binding Source: UniProtKB
- oxidoreductase 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 |
Ligand | FAD, Flavoprotein |
Enzyme and pathway databases
PathwayCommonsi | P13804 |
Reactomei | R-HSA-611105, Respiratory electron transport |
Names & Taxonomyi
Protein namesi | Recommended name: Electron transfer flavoprotein subunit alpha, mitochondrialShort name: Alpha-ETF |
Gene namesi | Name:ETFA |
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
EuPathDBi | HostDB:ENSG00000140374.15 |
HGNCi | HGNC:3481, ETFA |
MIMi | 608053, gene |
neXtProti | NX_P13804 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix Curated
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Glutaric aciduria 2A (GA2A)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002366 | 116 | G → R in GA2A; impaired protein stability and loss of electron transfer activity. 2 PublicationsCorresponds to variant dbSNP:rs119458971EnsemblClinVar. | 1 | |
Natural variantiVAR_002367 | 157 | V → G in GA2A. 1 PublicationCorresponds to variant dbSNP:rs119458969EnsemblClinVar. | 1 | |
Natural variantiVAR_002368 | 266 | T → M in GA2A; decreased electron transfer activity. 2 PublicationsCorresponds to variant dbSNP:rs119458970EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 249 | R → A: Loss of electron transfer activity. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, GlutaricaciduriaOrganism-specific databases
DisGeNETi | 2108 |
MalaCardsi | ETFA |
MIMi | 231680, phenotype |
OpenTargetsi | ENSG00000140374 |
Orphaneti | 394532, Multiple acyl-CoA dehydrogenase deficiency, mild type 394529, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
PharmGKBi | PA27897 |
Miscellaneous databases
Pharosi | P13804, Tbio |
Polymorphism and mutation databases
BioMutai | ETFA |
DMDMi | 119636 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 19 | MitochondrionSequence analysisCombined sourcesAdd BLAST | 19 | |
ChainiPRO_0000008650 | 20 – 333 | Electron transfer flavoprotein subunit alpha, mitochondrialAdd BLAST | 314 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 59 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 59 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 62 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 69 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 69 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 75 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 85 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 85 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 93 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 101 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 139 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 140 | PhosphoserineCombined sources | 1 | |
Modified residuei | 158 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 158 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 164 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 187 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 203 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 203 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 216 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 226 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 226 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 232 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 232 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 301 | N6-succinyllysineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-365 CPTAC-366 |
EPDi | P13804 |
jPOSTi | P13804 |
MassIVEi | P13804 |
PaxDbi | P13804 |
PeptideAtlasi | P13804 |
PRIDEi | P13804 |
ProteomicsDBi | 52989 [P13804-1] 52990 [P13804-2] |
TopDownProteomicsi | P13804-1 [P13804-1] P13804-2 [P13804-2] |
2D gel databases
UCD-2DPAGEi | P13804 |
PTM databases
CarbonylDBi | P13804 |
iPTMneti | P13804 |
MetOSitei | P13804 |
PhosphoSitePlusi | P13804 |
SwissPalmi | P13804 |
Expressioni
Gene expression databases
Bgeei | ENSG00000140374, Expressed in oocyte and 245 other tissues |
ExpressionAtlasi | P13804, baseline and differential |
Genevisiblei | P13804, HS |
Organism-specific databases
HPAi | ENSG00000140374, Low tissue specificity |
Interactioni
Subunit structurei
Heterodimer composed of ETFA and ETFB (PubMed:8962055, PubMed:15159392, PubMed:15975918, PubMed:9334218).
Identified in a complex that contains ETFA, ETFB and ETFRF1 (PubMed:27499296). Interaction with ETFRF1 promotes dissociation of the bound FAD and loss of electron transfer activity (PubMed:27499296).
Interacts with TASOR (By similarity).
By similarity4 PublicationsBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 108409, 133 interactors |
ComplexPortali | CPX-2731, Electron transfer flavoprotein complex |
DIPi | DIP-6161N |
IntActi | P13804, 62 interactors |
MINTi | P13804 |
STRINGi | 9606.ENSP00000452762 |
Miscellaneous databases
RNActi | P13804, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P13804 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P13804 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 20 – 204 | Domain I1 PublicationAdd BLAST | 185 | |
Regioni | 205 – 333 | Domain II1 PublicationAdd BLAST | 129 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG3954, Eukaryota |
GeneTreei | ENSGT00390000013422 |
HOGENOMi | CLU_034178_0_0_1 |
InParanoidi | P13804 |
OMAi | WRPHSEH |
PhylomeDBi | P13804 |
TreeFami | TF105763 |
Family and domain databases
CDDi | cd01715, ETF_alpha, 1 hit |
Gene3Di | 3.40.50.620, 1 hit |
InterProi | View protein in InterPro IPR029035, DHS-like_NAD/FAD-binding_dom IPR014730, ETF_a/b_N IPR001308, ETF_a/FixB IPR033947, ETF_alpha_N IPR014731, ETF_asu_C IPR018206, ETF_asu_C_CS IPR014729, Rossmann-like_a/b/a_fold |
Pfami | View protein in Pfam PF01012, ETF, 1 hit PF00766, ETF_alpha, 1 hit |
PIRSFi | PIRSF000089, Electra_flavoP_a, 1 hit |
SMARTi | View protein in SMART SM00893, ETF, 1 hit |
SUPFAMi | SSF52467, SSF52467, 1 hit |
PROSITEi | View protein in PROSITE PS00696, ETF_ALPHA, 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 10 potential isoforms that are computationally mapped.Show allAlign All
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
MFRAAAPGQL RRAASLLRFQ STLVIAEHAN DSLAPITLNT ITAATRLGGE
60 70 80 90 100
VSCLVAGTKC DKVAQDLCKV AGIAKVLVAQ HDVYKGLLPE ELTPLILATQ
110 120 130 140 150
KQFNYTHICA GASAFGKNLL PRVAAKLEVA PISDIIAIKS PDTFVRTIYA
160 170 180 190 200
GNALCTVKCD EKVKVFSVRG TSFDAAATSG GSASSEKASS TSPVEISEWL
210 220 230 240 250
DQKLTKSDRP ELTGAKVVVS GGRGLKSGEN FKLLYDLADQ LHAAVGASRA
260 270 280 290 300
AVDAGFVPND MQVGQTGKIV APELYIAVGI SGAIQHLAGM KDSKTIVAIN
310 320 330
KDPEAPIFQV ADYGIVADLF KVVPEMTEIL KKK
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YK49 | H0YK49_HUMAN | Electron transfer flavoprotein subu... | ETFA | 229 | Annotation score: | ||
H0YLU7 | H0YLU7_HUMAN | Electron transfer flavoprotein subu... | ETFA | 303 | Annotation score: | ||
H0YNX6 | H0YNX6_HUMAN | Electron transfer flavoprotein subu... | ETFA | 254 | Annotation score: | ||
H0YKF0 | H0YKF0_HUMAN | Electron transfer flavoprotein subu... | ETFA | 289 | Annotation score: | ||
H0YL83 | H0YL83_HUMAN | Electron transfer flavoprotein subu... | ETFA | 73 | Annotation score: | ||
H0YL12 | H0YL12_HUMAN | Electron transfer flavoprotein subu... | ETFA | 239 | Annotation score: | ||
J3KN60 | J3KN60_HUMAN | Electron transfer flavoprotein subu... | ETFA | 64 | Annotation score: | ||
H0YM12 | H0YM12_HUMAN | Electron transfer flavoprotein subu... | ETFA | 39 | Annotation score: | ||
H3BV91 | H3BV91_HUMAN | Electron transfer flavoprotein subu... | ETFA | 46 | Annotation score: | ||
H0YMU8 | H0YMU8_HUMAN | Electron transfer flavoprotein subu... | ETFA | 45 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002366 | 116 | G → R in GA2A; impaired protein stability and loss of electron transfer activity. 2 PublicationsCorresponds to variant dbSNP:rs119458971EnsemblClinVar. | 1 | |
Natural variantiVAR_002367 | 157 | V → G in GA2A. 1 PublicationCorresponds to variant dbSNP:rs119458969EnsemblClinVar. | 1 | |
Natural variantiVAR_008547 | 171 | T → I Decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs1801591EnsemblClinVar. | 1 | |
Natural variantiVAR_002368 | 266 | T → M in GA2A; decreased electron transfer activity. 2 PublicationsCorresponds to variant dbSNP:rs119458970EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043246 | 14 – 62 | Missing in isoform 2. 1 PublicationAdd BLAST | 49 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J04058 mRNA Translation: AAA52406.1 S55815 mRNA No translation available. S55816 mRNA No translation available. AJ224002 Genomic DNA Translation: CAA11802.1 AF436657 , AF436646, AF436647, AF436648, AF436649, AF436650, AF436651, AF436652, AF436653, AF436654, AF436655, AF436656 Genomic DNA Translation: AAN03712.1 BT009796 mRNA Translation: AAP88798.1 AK292979 mRNA Translation: BAF85668.1 AK300044 mRNA Translation: BAG61855.1 AC027243 Genomic DNA No translation available. AC091100 Genomic DNA No translation available. CH471136 Genomic DNA Translation: EAW99221.1 BC015526 mRNA Translation: AAH15526.1 BC095457 mRNA Translation: AAH95457.1 |
CCDSi | CCDS32299.1 [P13804-1] CCDS45311.1 [P13804-2] |
PIRi | A31998 |
RefSeqi | NP_000117.1, NM_000126.3 [P13804-1] NP_001121188.1, NM_001127716.1 [P13804-2] |
Genome annotation databases
Ensembli | ENST00000433983; ENSP00000399273; ENSG00000140374 [P13804-2] ENST00000557943; ENSP00000452762; ENSG00000140374 [P13804-1] |
GeneIDi | 2108 |
KEGGi | hsa:2108 |
UCSCi | uc002bbt.3, human [P13804-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J04058 mRNA Translation: AAA52406.1 S55815 mRNA No translation available. S55816 mRNA No translation available. AJ224002 Genomic DNA Translation: CAA11802.1 AF436657 , AF436646, AF436647, AF436648, AF436649, AF436650, AF436651, AF436652, AF436653, AF436654, AF436655, AF436656 Genomic DNA Translation: AAN03712.1 BT009796 mRNA Translation: AAP88798.1 AK292979 mRNA Translation: BAF85668.1 AK300044 mRNA Translation: BAG61855.1 AC027243 Genomic DNA No translation available. AC091100 Genomic DNA No translation available. CH471136 Genomic DNA Translation: EAW99221.1 BC015526 mRNA Translation: AAH15526.1 BC095457 mRNA Translation: AAH95457.1 |
CCDSi | CCDS32299.1 [P13804-1] CCDS45311.1 [P13804-2] |
PIRi | A31998 |
RefSeqi | NP_000117.1, NM_000126.3 [P13804-1] NP_001121188.1, NM_001127716.1 [P13804-2] |
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 | A | 20-333 | [»] | |
1T9G | X-ray | 2.90 | R | 1-333 | [»] | |
2A1T | X-ray | 2.80 | R | 1-333 | [»] | |
2A1U | X-ray | 2.11 | A | 1-333 | [»] | |
SMRi | P13804 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108409, 133 interactors |
ComplexPortali | CPX-2731, Electron transfer flavoprotein complex |
DIPi | DIP-6161N |
IntActi | P13804, 62 interactors |
MINTi | P13804 |
STRINGi | 9606.ENSP00000452762 |
PTM databases
CarbonylDBi | P13804 |
iPTMneti | P13804 |
MetOSitei | P13804 |
PhosphoSitePlusi | P13804 |
SwissPalmi | P13804 |
Polymorphism and mutation databases
BioMutai | ETFA |
DMDMi | 119636 |
2D gel databases
UCD-2DPAGEi | P13804 |
Proteomic databases
CPTACi | CPTAC-365 CPTAC-366 |
EPDi | P13804 |
jPOSTi | P13804 |
MassIVEi | P13804 |
PaxDbi | P13804 |
PeptideAtlasi | P13804 |
PRIDEi | P13804 |
ProteomicsDBi | 52989 [P13804-1] 52990 [P13804-2] |
TopDownProteomicsi | P13804-1 [P13804-1] P13804-2 [P13804-2] |
Protocols and materials databases
Antibodypediai | 14895, 356 antibodies |
DNASUi | 2108 |
Genome annotation databases
Ensembli | ENST00000433983; ENSP00000399273; ENSG00000140374 [P13804-2] ENST00000557943; ENSP00000452762; ENSG00000140374 [P13804-1] |
GeneIDi | 2108 |
KEGGi | hsa:2108 |
UCSCi | uc002bbt.3, human [P13804-1] |
Organism-specific databases
CTDi | 2108 |
DisGeNETi | 2108 |
EuPathDBi | HostDB:ENSG00000140374.15 |
GeneCardsi | ETFA |
HGNCi | HGNC:3481, ETFA |
HPAi | ENSG00000140374, Low tissue specificity |
MalaCardsi | ETFA |
MIMi | 231680, phenotype 608053, gene |
neXtProti | NX_P13804 |
OpenTargetsi | ENSG00000140374 |
Orphaneti | 394532, Multiple acyl-CoA dehydrogenase deficiency, mild type 394529, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
PharmGKBi | PA27897 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3954, Eukaryota |
GeneTreei | ENSGT00390000013422 |
HOGENOMi | CLU_034178_0_0_1 |
InParanoidi | P13804 |
OMAi | WRPHSEH |
PhylomeDBi | P13804 |
TreeFami | TF105763 |
Enzyme and pathway databases
PathwayCommonsi | P13804 |
Reactomei | R-HSA-611105, Respiratory electron transport |
Miscellaneous databases
BioGRID-ORCSi | 2108, 2 hits in 844 CRISPR screens |
ChiTaRSi | ETFA, human |
EvolutionaryTracei | P13804 |
GeneWikii | ETFA |
GenomeRNAii | 2108 |
Pharosi | P13804, Tbio |
PROi | PR:P13804 |
RNActi | P13804, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000140374, Expressed in oocyte and 245 other tissues |
ExpressionAtlasi | P13804, baseline and differential |
Genevisiblei | P13804, HS |
Family and domain databases
CDDi | cd01715, ETF_alpha, 1 hit |
Gene3Di | 3.40.50.620, 1 hit |
InterProi | View protein in InterPro IPR029035, DHS-like_NAD/FAD-binding_dom IPR014730, ETF_a/b_N IPR001308, ETF_a/FixB IPR033947, ETF_alpha_N IPR014731, ETF_asu_C IPR018206, ETF_asu_C_CS IPR014729, Rossmann-like_a/b/a_fold |
Pfami | View protein in Pfam PF01012, ETF, 1 hit PF00766, ETF_alpha, 1 hit |
PIRSFi | PIRSF000089, Electra_flavoP_a, 1 hit |
SMARTi | View protein in SMART SM00893, ETF, 1 hit |
SUPFAMi | SSF52467, SSF52467, 1 hit |
PROSITEi | View protein in PROSITE PS00696, ETF_ALPHA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ETFA_HUMAN | |
Accessioni | P13804Primary (citable) accession number: P13804 Secondary accession number(s): B4DT43, Q53XN3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 1, 1990 |
Last sequence update: | January 1, 1990 | |
Last modified: | December 2, 2020 | |
This is version 218 of the entry and version 1 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, Direct protein sequencing, Reference proteomeDocuments
- 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations