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ETFDH electron transfer flavoprotein dehydrogenase [ Homo sapiens (human) ]

Gene ID: 2110, updated on 8-Dec-2018

Summary

Official Symbol
ETFDHprovided by HGNC
Official Full Name
electron transfer flavoprotein dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:3483
See related
Ensembl:ENSG00000171503 MIM:231675
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MADD; ETFQO
Summary
This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in liver (RPKM 42.8), duodenum (RPKM 28.5) and 25 other tissues See more
Orthologs

Genomic context

See ETFDH in Genome Data Viewer
Location:
4q32.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (158672101..158708713)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (159593277..159629842)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene GC-rich promoter binding protein 1 pseudogene Neighboring gene relaxin family peptide receptor 1 Neighboring gene chromosome 4 open reading frame 46 Neighboring gene peptidylprolyl isomerase D Neighboring gene folliculin interacting protein 2 Neighboring gene RNA, U6 small nuclear 128, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Glutaric aciduria, type 2
MedGen: C0268596 OMIM: 231680 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide perspective of genetic variation in human metabolism.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ18477

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
4 iron, 4 sulfur cluster binding IDA
Inferred from Direct Assay
more info
PubMed 
electron transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
electron transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
electron-transferring-flavoprotein dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
electron-transferring-flavoprotein dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
electron-transferring-flavoprotein dehydrogenase activity TAS
Traceable Author Statement
more info
 
flavin adenine dinucleotide binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity, oxidizing metal ions with flavin as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, oxidizing metal ions with flavin as acceptor ISS
Inferred from Sequence or Structural Similarity
more info
 
quinone binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquinone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquinone binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
electron transport chain IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
Inferred from Mutant Phenotype
more info
PubMed 
respiratory electron transport chain IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
respiratory electron transport chain TAS
Traceable Author Statement
more info
 
response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
Names
ETF dehydrogenase
ETF-QO
ETF-ubiquinone oxidoreductase
electron-transferring-flavoprotein dehydrogenase
NP_001268666.1
NP_001268667.1
NP_004444.2
XP_024309703.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007078.2 RefSeqGene

    Range
    4760..41372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001281737.1NP_001268666.1  electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AK293737, AK304838, DA798232
    Consensus CDS
    CCDS64090.1
    UniProtKB/Swiss-Prot
    Q16134
    UniProtKB/TrEMBL
    B4DEQ0
    Related
    ENSP00000303552.5, ENST00000307738.5
    Conserved Domains (3) summary
    COG0644
    Location:20482
    FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]
    pfam05187
    Location:465568
    ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S
    cl21454
    Location:21170
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_001281738.1NP_001268667.1  electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001268667.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter, differs in the 5' UTR, and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK293737, DB221748
    UniProtKB/TrEMBL
    B4DEQ0
    Conserved Domains (2) summary
    COG0644
    Location:6468
    FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]
    pfam05187
    Location:451554
    ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S
  3. NM_004453.3NP_004444.2  electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_004444.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AK293737, BC011890, BX957055, DA798232
    Consensus CDS
    CCDS3800.1
    UniProtKB/Swiss-Prot
    Q16134
    UniProtKB/TrEMBL
    B4DEQ0
    Related
    ENSP00000426638.1, ENST00000511912.5
    Conserved Domains (3) summary
    COG0644
    Location:67529
    FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]
    pfam05187
    Location:512615
    ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S
    cl21454
    Location:68217
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    158672101..158708713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453935.1XP_024309703.1  electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform X1

    Conserved Domains (2) summary
    COG0644
    Location:6468
    FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]
    pfam05187
    Location:451554
    ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S
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