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    ETFRF1 electron transfer flavoprotein regulatory factor 1 [ Homo sapiens (human) ]

    Gene ID: 144363, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ETFRF1provided by HGNC
    Official Full Name
    electron transfer flavoprotein regulatory factor 1provided by HGNC
    Primary source
    HGNC:HGNC:27052
    See related
    Ensembl:ENSG00000205707 AllianceGenome:HGNC:27052
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LYRM5
    Summary
    Involved in respiratory electron transport chain. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 14.3), adrenal (RPKM 11.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ETFRF1 in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (25195237..25205143)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (25066455..25076393)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (25348171..25358077)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene inositol 1,4,5-triphosphate receptor associated 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26648 Neighboring gene centromere protein U pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:25288649-25289148 Neighboring gene dynein axonemal intermediate chain 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:25321883-25322516 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:25323195-25323341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6115 Neighboring gene uncharacterized LOC124902899 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26705 Neighboring gene KRAS proto-oncogene, GTPase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6116 Neighboring gene NFE2L2 motif-containing MPRA enhancer 301/302 Neighboring gene uncharacterized LOC105369701

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article
    2. Variability in Streptavidin-Sepharose Matrix Quality Can Significantly Affect Proximity-Dependent Biotinylation (BioID) Data. St-Germain JR, et al. J Proteome Res, 2020 Aug 7. PMID 32628020
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article
    4. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in respiratory electron transport chain IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in respiratory electron transport chain IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    electron transfer flavoprotein regulatory factor 1
    Names
    LYR motif containing 5
    LYR motif-containing protein 5

    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.

    mRNA and Protein(s)

    1. NM_001001660.3 → NP_001001660.2  electron transfer flavoprotein regulatory factor 1

      See identical proteins and their annotated locations for NP_001001660.2

      Status: VALIDATED

      Source sequence(s)
      AC092794, BC071769, BC100276, BG771497, DA502833
      Consensus CDS
      CCDS53764.1
      UniProtKB/Swiss-Prot
      J3KPI7, Q6IPR1
      Related
      ENSP00000370761.4, ENST00000381356.9
      Conserved Domains (1) summary
      cd20265
      Location:22 → 81
      Complex1_LYR_ETFRF1_LYRM5; LYR (leucine-tyrosine-arginine) motif found in electron transfer flavoprotein regulatory factor 1 (ETFRF1) and similar proteins

    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

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      25195237..25205143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253319.5 → XP_005253376.1  electron transfer flavoprotein regulatory factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005253376.1

      UniProtKB/Swiss-Prot
      J3KPI7, Q6IPR1
      Related
      ENSP00000450584.2, ENST00000557540.7
      Conserved Domains (1) summary
      cd20265
      Location:22 → 81
      Complex1_LYR_ETFRF1_LYRM5; LYR (leucine-tyrosine-arginine) motif found in electron transfer flavoprotein regulatory factor 1 (ETFRF1) and similar proteins

    2. XM_005253320.5 → XP_005253377.1  electron transfer flavoprotein regulatory factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005253377.1

      UniProtKB/Swiss-Prot
      J3KPI7, Q6IPR1
      Related
      ENSP00000452146.2, ENST00000556351.6
      Conserved Domains (1) summary
      cd20265
      Location:22 → 81
      Complex1_LYR_ETFRF1_LYRM5; LYR (leucine-tyrosine-arginine) motif found in electron transfer flavoprotein regulatory factor 1 (ETFRF1) and similar proteins

    3. XM_017018850.3 → XP_016874339.1  electron transfer flavoprotein regulatory factor 1 isoform X1

      UniProtKB/Swiss-Prot
      J3KPI7, Q6IPR1
      Conserved Domains (1) summary
      cd20265
      Location:22 → 81
      Complex1_LYR_ETFRF1_LYRM5; LYR (leucine-tyrosine-arginine) motif found in electron transfer flavoprotein regulatory factor 1 (ETFRF1) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      25066455..25076393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371169.1 → XP_054227144.1  electron transfer flavoprotein regulatory factor 1 isoform X1

      UniProtKB/Swiss-Prot
      J3KPI7, Q6IPR1

    2. XM_054371170.1 → XP_054227145.1  electron transfer flavoprotein regulatory factor 1 isoform X1

      UniProtKB/Swiss-Prot
      J3KPI7, Q6IPR1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IPR1.2 GenPept UniProtKB/Swiss-Prot:Q6IPR1

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