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

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; AllianceGenome:HGNC:3483
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: mouse all
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Genomic context

Location:: 4q32.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (158672296..158709623)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (162023044..162060372)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (159593448..159630775)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway.
Title: ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway.
Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection.
Title: Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection.
Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
Title: Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Title: ETF dehydrogenase advances in molecular genetics and impact on treatment.
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Title: Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Clinical characteristics and gene mutation analysis of an adult patient with ETFDHrelated multiple acylCoA dehydrogenase deficiency.
Title: Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Title: Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
the two variants of ETFDH gene identified probably underlie the pathogenesis of Glutaric acidemia type II in this family, and also enlarge ETFDH genotype-phenotype correlations spectrum.
Title: A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
Low tumor expression of ETFDH was associated with a poorer overall survival in patients with hepatocellular carcinoma.
Title: Expression and significance of ETFDH in hepatocellular carcinoma.
A mutation is the most common EFTDH mutation in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency and is most prevalent in China and South-East Asia where its epidemiology correlates with the distribution and migration patterns of the southern Min population in Southern China and neighbouring countries
Title: Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Multiple acyl-CoA dehydrogenase deficiency MedGen: C0268596 OMIM: 231680 GeneReviews: Multiple Acyl-CoA Dehydrogenase Deficiency	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1332 (e-PCR)
- UniSTS:48481

D15S1477 (e-PCR)
- UniSTS:474482

D4S3142 (e-PCR)
- UniSTS:47542

SHGC-59334 (e-PCR)
- UniSTS:65733

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IDA Inferred from Direct Assay more info	PubMed
enables electron transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables electron-transferring-flavoprotein dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables electron-transferring-flavoprotein dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables electron-transferring-flavoprotein dehydrogenase activity	TAS Traceable Author Statement more info
enables flavin adenine dinucleotide binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables quinone binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquinone binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in electron transport chain	IBA Inferred from Biological aspect of Ancestor more info
involved_in electron transport chain	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in respiratory electron transport chain	TAS Traceable Author Statement more info
involved_in response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial

Names: ETF dehydrogenase; ETF-QO; ETF-ubiquinone oxidoreductase; electron-transferring-flavoprotein dehydrogenase; mutant electron transfer flavoprotein dehydrogenase

NP_001268666.1

EC 1.5.5.1

NP_001268667.1

EC 1.5.5.1

NP_004444.2

EC 1.5.5.1

NCBI Reference Sequences (RefSeq)

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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

NG_007078.2 RefSeqGene

Range

4955..42282

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001281737.2 → NP_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)

AC107219, AK293737, AK304838, DA798232

Consensus CDS

CCDS64090.1

UniProtKB/TrEMBL

Q547S8

Related

ENSP00000303552.5, ENST00000307738.5

Conserved Domains (3) summary

COG0644
Location:20 → 482

FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]

pfam05187
Location:465 → 568

ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S

cl21454
Location:21 → 170

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001281738.1 → NP_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

Consensus CDS

CCDS93661.1

UniProtKB/TrEMBL

B4DEQ0, Q547S8

Related

ENSP00000508043.1, ENST00000683305.1

Conserved Domains (2) summary

COG0644
Location:6 → 468

FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]

pfam05187
Location:451 → 554

ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S
NM_004453.4 → NP_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)

AC107219, AK293737, BC011890, BX957055, DA798232

Consensus CDS

CCDS3800.1

UniProtKB/Swiss-Prot

B4E3R9, J3KND9, Q16134, Q7Z347

UniProtKB/TrEMBL

A0A2I6U1K5, A0A2I6U1Q3, Q547S8

Related

ENSP00000426638.1, ENST00000511912.6

Conserved Domains (3) summary

COG0644
Location:67 → 529

FixC; Dehydrogenase (flavoprotein) [Energy production and conversion]

pfam05187
Location:512 → 615

ETF_QO; Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S

cl21454
Location:68 → 217

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins