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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Accepts electrons from ETF and reduces ubiquinone.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei305Ubiquinone; via carbonyl oxygenBy similarity1
Binding sitei306Ubiquinone; via amide nitrogenBy similarity1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi561Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi586Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi589Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi592Iron-sulfur (4Fe-4S)Sequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi71 – 85FADSequence analysisAdd BLAST15

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • electron transport chain Source: UniProtKB
  • fatty acid beta-oxidation using acyl-CoA dehydrogenase Source: BHF-UCL
  • respiratory electron transport chain Source: GO_Central
  • response to oxidative stress Source: UniProtKB

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processElectron transport, Transport
Ligand4Fe-4S, FAD, Flavoprotein, Iron, Iron-sulfur, Metal-binding, Ubiquinone

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS10326-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.5.5.1 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-611105 Respiratory electron transport

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ETFDH
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000171503.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3483 ETFDH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
231675 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q16134

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei109 – 130By similarityAdd BLAST22
Intramembranei428 – 447By similarityAdd BLAST20

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07543949Y → C in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_07544082S → F in GA2C. 1 PublicationCorresponds to variant dbSNP:rs887871605Ensembl.1
Natural variantiVAR_07544182S → P in GA2C. 1 Publication1
Natural variantiVAR_07544284A → T in GA2C. 2 PublicationsCorresponds to variant dbSNP:rs121964954EnsemblClinVar.1
Natural variantiVAR_075443112H → Y in GA2C. 1 Publication1
Natural variantiVAR_075444127L → H in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964956EnsemblClinVar.1
Natural variantiVAR_075445138L → R in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779896449EnsemblClinVar.1
Natural variantiVAR_075446175R → H in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964955EnsemblClinVar.1
Natural variantiVAR_075447175R → L in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964955EnsemblClinVar.1
Natural variantiVAR_075448218D → N in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748289922Ensembl.1
Natural variantiVAR_075449222Q → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1482632936Ensembl.1
Natural variantiVAR_075450262L → F in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075451334L → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377686388EnsemblClinVar.1
Natural variantiVAR_075452346H → R in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1358691961Ensembl.1
Natural variantiVAR_075453377L → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs387907170EnsemblClinVar.1
Natural variantiVAR_075454452R → K in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075455456P → L in GA2C. 2 PublicationsCorresponds to variant dbSNP:rs398124152EnsemblClinVar.1
Natural variantiVAR_075456456P → T in GA2C. 1 Publication1
Natural variantiVAR_075457483P → L in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377656387EnsemblClinVar.1
Natural variantiVAR_075458562P → L in GA2C. 1 PublicationCorresponds to variant dbSNP:rs993314323Ensembl.1
Natural variantiVAR_075459590K → E in GA2C. 1 Publication1
Natural variantiVAR_075460611G → E in GA2C. 1 PublicationCorresponds to variant dbSNP:rs761669036EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Glutaricaciduria

Organism-specific databases

DisGeNET

More...
DisGeNETi
2110

MalaCards human disease database

More...
MalaCardsi
ETFDH
MIMi231680 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000171503

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
394532 Multiple acyl-CoA dehydrogenase deficiency, mild type
394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27899

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ETFDH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
292495008

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 33MitochondrionSequence analysisAdd BLAST33
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000866134 – 617Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrialAdd BLAST584

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei96N6-acetyllysineBy similarity1
Modified residuei132N6-acetyllysineBy similarity1
Modified residuei223N6-acetyllysineBy similarity1
Modified residuei357N6-acetyllysineBy similarity1
Modified residuei551PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q16134

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q16134

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q16134

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q16134

PeptideAtlas

More...
PeptideAtlasi
Q16134

PRoteomics IDEntifications database

More...
PRIDEi
Q16134

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60832

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q16134

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q16134

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q16134

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000171503 Expressed in 218 organ(s), highest expression level in apex of heart

CleanEx database of gene expression profiles

More...
CleanExi
HS_ETFDH

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q16134 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q16134 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041978

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108411, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q16134, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000426638

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q16134

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q16134

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini577 – 6064Fe-4S ferredoxin-typePROSITE-ProRule annotationAdd BLAST30

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ETF-QO/FixC family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2415 Eukaryota
COG0644 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000010773

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000259450

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005615

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q16134

KEGG Orthology (KO)

More...
KOi
K00311

Identification of Orthologs from Complete Genome Data

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OMAi
VINSQNC

Database of Orthologous Groups

More...
OrthoDBi
293434at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q16134

TreeFam database of animal gene trees

More...
TreeFami
TF105687

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.50.50.60, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR017896 4Fe4S_Fe-S-bd
IPR040156 ETF-QO
IPR036188 FAD/NAD-bd_sf
IPR000103 Pyridine_nuc-diS_OxRdtase_2

The PANTHER Classification System

More...
PANTHERi
PTHR10617 PTHR10617, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00469 PNDRDTASEII

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51905 SSF51905, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51379 4FE4S_FER_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RJF8D6RJF8_HUMAN
Electron transfer flavoprotein-ubiq...
ETFDH
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAD5D6RAD5_HUMAN
Electron transfer flavoprotein-ubiq...
ETFDH
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti109I → V in CAD98030 (PubMed:17974005).Curated1
Sequence conflicti456P → S in BAG65581 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07543816F → C1 Publication1
Natural variantiVAR_06296631T → I4 PublicationsCorresponds to variant dbSNP:rs11559290EnsemblClinVar.1
Natural variantiVAR_07543949Y → C in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_07544082S → F in GA2C. 1 PublicationCorresponds to variant dbSNP:rs887871605Ensembl.1
Natural variantiVAR_07544182S → P in GA2C. 1 Publication1
Natural variantiVAR_07544284A → T in GA2C. 2 PublicationsCorresponds to variant dbSNP:rs121964954EnsemblClinVar.1
Natural variantiVAR_05571194H → R. Corresponds to variant dbSNP:rs1140065Ensembl.1
Natural variantiVAR_075443112H → Y in GA2C. 1 Publication1
Natural variantiVAR_075444127L → H in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964956EnsemblClinVar.1
Natural variantiVAR_075445138L → R in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779896449EnsemblClinVar.1
Natural variantiVAR_075446175R → H in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964955EnsemblClinVar.1
Natural variantiVAR_075447175R → L in GA2C. 1 PublicationCorresponds to variant dbSNP:rs121964955EnsemblClinVar.1
Natural variantiVAR_075448218D → N in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748289922Ensembl.1
Natural variantiVAR_075449222Q → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1482632936Ensembl.1
Natural variantiVAR_075450262L → F in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075451334L → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377686388EnsemblClinVar.1
Natural variantiVAR_075452346H → R in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1358691961Ensembl.1
Natural variantiVAR_075453377L → P in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs387907170EnsemblClinVar.1
Natural variantiVAR_075454452R → K in GA2C; unknown pathological significance. 1 Publication1
Natural variantiVAR_075455456P → L in GA2C. 2 PublicationsCorresponds to variant dbSNP:rs398124152EnsemblClinVar.1
Natural variantiVAR_075456456P → T in GA2C. 1 Publication1
Natural variantiVAR_075457483P → L in GA2C; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377656387EnsemblClinVar.1
Natural variantiVAR_075458562P → L in GA2C. 1 PublicationCorresponds to variant dbSNP:rs993314323Ensembl.1
Natural variantiVAR_036134565V → L in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs769893690Ensembl.1
Natural variantiVAR_075459590K → E in GA2C. 1 Publication1
Natural variantiVAR_075460611G → E in GA2C. 1 PublicationCorresponds to variant dbSNP:rs761669036EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05515812 – 58Missing in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS3800.1 [Q16134-1]
CCDS64090.1 [Q16134-3]

Protein sequence database of the Protein Information Resource

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PIRi
S41115

NCBI Reference Sequences

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RefSeqi
NP_001268666.1, NM_001281737.1 [Q16134-3]
NP_004444.2, NM_004453.3 [Q16134-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.155729

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000307738; ENSP00000303552; ENSG00000171503 [Q16134-3]
ENST00000511912; ENSP00000426638; ENSG00000171503 [Q16134-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2110

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2110

UCSC genome browser

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UCSCi
uc003iqb.5 human [Q16134-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108411, 4 interactors
IntActiQ16134, 11 interactors
STRINGi9606.ENSP00000426638

PTM databases

iPTMnetiQ16134
PhosphoSitePlusiQ16134
SwissPalmiQ16134

Polymorphism and mutation databases

BioMutaiETFDH
DMDMi292495008

Proteomic databases

EPDiQ16134
jPOSTiQ16134
MaxQBiQ16134
PaxDbiQ16134
PeptideAtlasiQ16134
PRIDEiQ16134
ProteomicsDBi60832

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

Comparative Toxicogenomics Database

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CTDi
2110
DisGeNETi2110
EuPathDBiHostDB:ENSG00000171503.11

GeneCards: human genes, protein and diseases

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GeneCardsi
ETFDH

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0200647
HGNCiHGNC:3483 ETFDH
HPAiHPA041978
MalaCardsiETFDH
MIMi231675 gene
231680 phenotype
neXtProtiNX_Q16134
OpenTargetsiENSG00000171503
Orphaneti394532 Multiple acyl-CoA dehydrogenase deficiency, mild type
394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
PharmGKBiPA27899

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2415 Eukaryota
COG0644 LUCA
GeneTreeiENSGT00390000010773
HOGENOMiHOG000259450
HOVERGENiHBG005615
InParanoidiQ16134
KOiK00311
OMAiVINSQNC
OrthoDBi293434at2759
PhylomeDBiQ16134
TreeFamiTF105687

Enzyme and pathway databases

BioCyciMetaCyc:HS10326-MONOMER
BRENDAi1.5.5.1 2681
ReactomeiR-HSA-611105 Respiratory electron transport

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ETFDH human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ETFDH

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2110

Protein Ontology

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PROi
PR:Q16134

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000171503 Expressed in 218 organ(s), highest expression level in apex of heart
CleanExiHS_ETFDH
ExpressionAtlasiQ16134 baseline and differential
GenevisibleiQ16134 HS

Family and domain databases

Gene3Di3.50.50.60, 1 hit
InterProiView protein in InterPro
IPR017896 4Fe4S_Fe-S-bd
IPR040156 ETF-QO
IPR036188 FAD/NAD-bd_sf
IPR000103 Pyridine_nuc-diS_OxRdtase_2
PANTHERiPTHR10617 PTHR10617, 1 hit
PRINTSiPR00469 PNDRDTASEII
SUPFAMiSSF51905 SSF51905, 1 hit
PROSITEiView protein in PROSITE
PS51379 4FE4S_FER_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiETFD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q16134
Secondary accession number(s): B4E3R9, J3KND9, Q7Z347
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: March 23, 2010
Last modified: January 16, 2019
This is version 176 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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