ETFB electron transfer flavoprotein subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: ETFBprovided by HGNC
Official Full Name: electron transfer flavoprotein subunit betaprovided by HGNC
Primary source: HGNC:HGNC:3482
See related: Ensembl:ENSG00000105379 MIM:130410; AllianceGenome:HGNC:3482
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; FP585
Summary: This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in liver (RPKM 75.6), fat (RPKM 65.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.41

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51345155..51366388, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54433439..54455031, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51848409..51869642, complement)

Chromosome 19 - NC_000019.10 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?

Molecular Oxygen Binding in the Mitochondrial Electron Transfer Flavoprotein.
Title: Molecular Oxygen Binding in the Mitochondrial Electron Transfer Flavoprotein.
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.
Data suggest that ETF (heterodimer of ETFA and ETFB) catalyzes irreversible and pH-dependent oxidation of 8alpha-methyl group of FAD to form to 8-formyl-FAD (8f-FAD).
Title: Oxidation of the FAD cofactor to the 8-formyl-derivative in human electron-transferring flavoprotein.
We identified and replicated a novel gene, ETFB, strongly associated with chronic anthracycline-induced cardiotoxicity independently of age at tumor onset and related to anthracycline-mediated mitochondrial dysfunction
Title: Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients.
These results suggested that increasing levels of ATP5B and ETFB were associated with worsening renal injury.
Title: ATP5B and ETFB metabolic markers in children with congenital hydronephrosis.
the findings of our present study suggest that ETFbeta plays an important role in renal tubular cell apoptosis during the progression of DN.
Title: The decreased expression of electron transfer flavoprotein β is associated with tubular cell apoptosis in diabetic nephropathy.
Electron Transfer Flavoprotein Subunit Beta Is a Candidate Endothelial Cell Autoantigen in Behcet's Disease
Title: Electron Transfer Flavoprotein Subunit Beta Is a Candidate Endothelial Cell Autoantigen in Behçet's Disease.
Human METTL20 is a mitochondrial lysine methyltransferase that targets ETFbeta and modulates its activity.
Title: Human METTL20 is a mitochondrial lysine methyltransferase that targets the β subunit of electron transfer flavoprotein (ETFβ) and modulates its activity.
ETFB knockdown can affect TGF-beta-induced tissue remodeling and/or fibrotic processes in vitro.
Title: Knockdown of electron transfer flavoprotein β subunit reduced TGF-β-induced α-SMA mRNA expression but not COL1A1 in fibroblast-populated three-dimensional collagen gel cultures.
Point mutations in electron-transfer-flavoprotein beta is associated with destabilized conformations and defective protein:protein interactions leading to mitochondrial dysfunction.
Title: Mechanism of superoxide and hydrogen peroxide generation by human electron-transfer flavoprotein and pathological variants.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify electron-transfer-flavoprotein beta polypeptide (ETFB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify electron-transfer-flavoprotein beta polypeptide (ETFB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify electron-transfer-flavoprotein beta polypeptide (ETFB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify electron-transfer-flavoprotein beta polypeptide (ETFB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of electron-transfer-flavoprotein, beta polypeptide (ETFB) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11652 (e-PCR)
- UniSTS:77436

D11S2766 (e-PCR)
- UniSTS:151969

NoName (e-PCR)
- UniSTS:62643

NoName (e-PCR)
- UniSTS:484330

GDB:373700 (e-PCR)
- UniSTS:156924

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables electron transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables electron transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amino acid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA Inferred from Direct Assay more info	PubMed
involved_in respiratory electron transport chain	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of electron transfer flavoprotein complex	IPI Inferred from Physical Interaction more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: electron transfer flavoprotein subunit beta

Names: beta-ETF; electron transfer flavoprotein beta subunit; electron transfer flavoprotein, beta polypeptide; electron-transferring-flavoprotein, beta polypeptide

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_007115.1 RefSeqGene

Range

5031..26250

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001014763.1 → NP_001014763.1 electron transfer flavoprotein subunit beta isoform 2

See identical proteins and their annotated locations for NP_001014763.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks the 5' exon but has an alternate 5' segment, as compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus compared to isoform 1.

Source sequence(s)

AF370381, AK055285, BG281641

Consensus CDS

CCDS33085.1

UniProtKB/Swiss-Prot

P38117

Related

ENSP00000346173.3, ENST00000354232.8

Conserved Domains (1) summary

cd01714
Location:110 → 301

ETF_beta; The electron transfer flavoprotein (ETF) serves as a specific electron acceptor for various mitochondrial dehydrogenases. ETF transfers electrons to the main respiratory chain via ETF-ubiquinone oxidoreductase. ETF is an heterodimer that consists of an ...
NM_001985.3 → NP_001976.1 electron transfer flavoprotein subunit beta isoform 1

See identical proteins and their annotated locations for NP_001976.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the shorter isoform (1).

Source sequence(s)

BG281641, BG399783, X71129

Consensus CDS

CCDS12828.1

UniProtKB/Swiss-Prot

A8K766, B3KNY2, P38117, Q6IBH7, Q71RF6, Q9Y3S7

Related

ENSP00000311930.3, ENST00000309244.9

Conserved Domains (1) summary

cd01714
Location:5 → 210

ETF_beta; The electron transfer flavoprotein (ETF) serves as a specific electron acceptor for various mitochondrial dehydrogenases. ETF transfers electrons to the main respiratory chain via ETF-ubiquinone oxidoreductase. ETF is an heterodimer that consists of an ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

51345155..51366388 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024451418.2 → XP_024307186.1 electron transfer flavoprotein subunit beta isoform X1

Conserved Domains (1) summary

cd01714
Location:1 → 173

ETF_beta; The electron transfer flavoprotein (ETF) serves as a specific electron acceptor for various mitochondrial dehydrogenases. ETF transfers electrons to the main respiratory chain via ETF-ubiquinone oxidoreductase. ETF is an heterodimer that consists of an ...