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

Gene ID: 144363, updated on 13-Mar-2020

Summary

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
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
Expression
Ubiquitous expression in testis (RPKM 14.3), adrenal (RPKM 11.7) and 25 other tissues See more
Orthologs

Genomic context

See ETFRF1 in Genome Data Viewer
Location:
12p12.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (25195217..25205143)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (25348150..25357949)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene inositol 1,4,5-triphosphate receptor associated 2 Neighboring gene centromere protein U pseudogene 2 Neighboring gene cilia and flagella associated protein 94 Neighboring gene KRAS proto-oncogene, GTPase Neighboring gene NFE2L2 motif-containing MPRA enhancer 301/302

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 Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
respiratory electron transport chain IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001001660.3NP_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
    Q6IPR1
    Related
    ENSP00000370761.4, ENST00000381356.9
    Conserved Domains (1) summary
    cl05087
    Location:3065
    Complex1_LYR; Complex 1 protein (LYR family)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    25195217..25205143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253319.4XP_005253376.1  electron transfer flavoprotein regulatory factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005253376.1

    UniProtKB/Swiss-Prot
    Q6IPR1
    Related
    ENSP00000450584.2, ENST00000557540.7
    Conserved Domains (1) summary
    cl05087
    Location:3065
    Complex1_LYR; Complex 1 protein (LYR family)
  2. XM_005253320.4XP_005253377.1  electron transfer flavoprotein regulatory factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005253377.1

    UniProtKB/Swiss-Prot
    Q6IPR1
    Related
    ENSP00000452146.2, ENST00000556351.6
    Conserved Domains (1) summary
    cl05087
    Location:3065
    Complex1_LYR; Complex 1 protein (LYR family)
  3. XM_017018850.2XP_016874339.1  electron transfer flavoprotein regulatory factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6IPR1
    Conserved Domains (1) summary
    cl05087
    Location:3065
    Complex1_LYR; Complex 1 protein (LYR family)
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