Aliases for ETFRF1 Gene

Aliases for ETFRF1 Gene

  • Electron Transfer Flavoprotein Regulatory Factor 1 2 3 4 5
  • LYR Motif-Containing Protein 5 3 4
  • LYR Motif Containing 5 2 3
  • LYRM5 3 4
  • ETFRF1 5

External Ids for ETFRF1 Gene

Previous HGNC Symbols for ETFRF1 Gene

  • LYRM5

Summaries for ETFRF1 Gene

GeneCards Summary for ETFRF1 Gene

ETFRF1 (Electron Transfer Flavoprotein Regulatory Factor 1) is a Protein Coding gene. Diseases associated with ETFRF1 include Temtamy Syndrome and Cantu Syndrome.

UniProtKB/Swiss-Prot Summary for ETFRF1 Gene

  • Acts as a regulator of the electron transfer flavoprotein by promoting the removal of flavin from the ETF holoenzyme (composed of ETFA and ETFB).

Additional gene information for ETFRF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETFRF1 Gene

Genomics for ETFRF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ETFRF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J025194 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 610.2 +0.3 290 2.8 SP1 GATAD2A ZNF629 RFX1 LEF1 ZNF692 POLR2A FOXA1 LARP7 DDX20 CFAP94 ETFRF1 lnc-KRAS-2 lnc-LRMP-6 KRAS RASSF8-AS1 ENSG00000274987
GH12J025050 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.6 -141.3 -141298 6.6 SP1 POLR2A LARP7 STAT3 JUND PKNOX1 SMAD5 TCF12 IKZF2 RCOR1 IRAG2 CFAP94 ETFRF1 C12orf77 KRAS piR-61945-093 NONHSAG010702.2 LOC645177
GH12J025135 Enhancer 0.7 Ensembl ENCODE 11.4 -59.5 -59475 1.3 CTCF FOXA1 ZIC2 RFX1 OSR2 WT1 ZFHX2 ZNF143 RAD21 EGR2 ETFRF1 CFAP94 KRAS piR-31311-006 ENSG00000276842 lnc-KRAS-2 C12orf77
GH12J025240 Enhancer 0.9 Ensembl ENCODE 6.2 +47.5 47485 3.8 CREB1 CTCF ATF7 ZNF629 RELA REST RAD21 TRIM22 ARID3A HMBOX1 KRAS ETFRF1 FJ601684-071 piR-58767
GH12J025187 Enhancer 0.7 Ensembl ENCODE 5.2 -6.4 -6446 2.5 ZBTB44 ZNF639 JUND BCL11A FOS ZNF146 PRDM6 ZNF384 BCL6B ZSCAN21 KRAS ETFRF1 CFAP94 lnc-KRAS-2 piR-43105-105 C12orf77
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETFRF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETFRF1

Genomic Locations for ETFRF1 Gene

Genomic Locations for ETFRF1 Gene
chr12:25,195,216-25,209,645
(GRCh38/hg38)
Size:
14,430 bases
Orientation:
Plus strand
chr12:25,348,150-25,362,579
(GRCh37/hg19)
Size:
14,430 bases
Orientation:
Plus strand

Genomic View for ETFRF1 Gene

Genes around ETFRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETFRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETFRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETFRF1 Gene

Proteins for ETFRF1 Gene

  • Protein details for ETFRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IPR1-ETFR1_HUMAN
    Recommended name:
    Electron transfer flavoprotein regulatory factor 1
    Protein Accession:
    Q6IPR1
    Secondary Accessions:
    • J3KPI7

    Protein attributes for ETFRF1 Gene

    Size:
    90 amino acids
    Molecular mass:
    10864 Da
    Quaternary structure:
    • homotetramer (Probable). Interacts with NDUFAB1 (PubMed:27499296). Interacts with ETFA (PubMed:27499296). Interacts with ETFB (PubMed:27499296).
    SequenceCaution:
    • Sequence=AAH71769.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI00277.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ETFRF1 Gene

Post-translational modifications for ETFRF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ETFRF1 Gene

Domains & Families for ETFRF1 Gene

Gene Families for ETFRF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ETFRF1 Gene

InterPro:
Blocks:
  • Complex 1 LYR protein
ProtoNet:

Suggested Antigen Peptide Sequences for ETFRF1 Gene

GenScript: Design optimal peptide antigens:
  • LYR motif-containing protein 5 (LYRM5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6IPR1

UniProtKB/Swiss-Prot:

ETFR1_HUMAN :
  • Belongs to the complex I LYR family.
Family:
  • Belongs to the complex I LYR family.
genes like me logo Genes that share domains with ETFRF1: view

Function for ETFRF1 Gene

Molecular function for ETFRF1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a regulator of the electron transfer flavoprotein by promoting the removal of flavin from the ETF holoenzyme (composed of ETFA and ETFB).

Gene Ontology (GO) - Molecular Function for ETFRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27499296
genes like me logo Genes that share ontologies with ETFRF1: view
genes like me logo Genes that share phenotypes with ETFRF1: view

Animal Model Products

CRISPR Products

miRNA for ETFRF1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFRF1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ETFRF1 Gene

Localization for ETFRF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETFRF1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETFRF1 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 2
nucleus 2
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ETFRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 27499296
genes like me logo Genes that share ontologies with ETFRF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ETFRF1 Gene

Pathways & Interactions for ETFRF1 Gene

PathCards logo

SuperPathways for ETFRF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ETFRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022904 respiratory electron transport chain IMP 27499296
genes like me logo Genes that share ontologies with ETFRF1: view

No data available for Pathways by source and SIGNOR curated interactions for ETFRF1 Gene

Drugs & Compounds for ETFRF1 Gene

No Compound Related Data Available

Transcripts for ETFRF1 Gene

mRNA/cDNA for ETFRF1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFRF1

Alternative Splicing Database (ASD) splice patterns (SP) for ETFRF1 Gene

No ASD Table

Relevant External Links for ETFRF1 Gene

GeneLoc Exon Structure for
ETFRF1

Expression for ETFRF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETFRF1

Evidence on tissue expression from TISSUES for ETFRF1 Gene

  • Nervous system(4.7)
  • Muscle(4.5)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ETFRF1 Gene

Orthologs for ETFRF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETFRF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LYRM5 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LYRM5 30 31
  • 94.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LYRM5 30 31
  • 92.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lyrm5 30 31
  • 91.27 (n)
OneToOne
Etfrf1 17
Rat
(Rattus norvegicus)
Mammalia Lyrm5 30
  • 90.87 (n)
Oppossum
(Monodelphis domestica)
Mammalia LYRM5 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LYRM5 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LYRM5 30 31
  • 79.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LYRM5 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lyrm5 30
  • 72.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15640 30
Zebrafish
(Danio rerio)
Actinopterygii lyrm5a 30
  • 73.58 (n)
lyrm5b 31
  • 67 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6115 31
  • 47 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y42A5A.5 31
  • 47 (a)
OneToOne
Species where no ortholog for ETFRF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ETFRF1 Gene

ENSEMBL:
Gene Tree for ETFRF1 (if available)
TreeFam:
Gene Tree for ETFRF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETFRF1: view image

Paralogs for ETFRF1 Gene

Pseudogenes.org Pseudogenes for ETFRF1 Gene

genes like me logo Genes that share paralogs with ETFRF1: view

No data available for Paralogs for ETFRF1 Gene

Variants for ETFRF1 Gene

Additional dbSNP identifiers (rs#s) for ETFRF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ETFRF1 Gene

Variant ID Type Subtype PubMed ID
esv3628892 CNV loss 21293372
nsv1048631 CNV loss 25217958
nsv1138115 CNV deletion 24896259
nsv469169 CNV gain 19166990
nsv557775 CNV gain 21841781

Variation tolerance for ETFRF1 Gene

Residual Variation Intolerance Score: 75.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETFRF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETFRF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETFRF1 Gene

Disorders for ETFRF1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ETFRF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
temtamy syndrome
  • temtys
cantu syndrome
  • hypertrichotic osteochondrodysplasia
combined oxidative phosphorylation deficiency 19
  • coxpd19
multiple acyl-coa dehydrogenase deficiency
  • madd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ETFRF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ETFRF1 Gene

Publications for ETFRF1 Gene

  1. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for ETFRF1 Gene

Sources for ETFRF1 Gene