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    MIEF1 mitochondrial elongation factor 1 [ Homo sapiens (human) ]

    Gene ID: 54471, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MIEF1provided by HGNC
    Official Full Name
    mitochondrial elongation factor 1provided by HGNC
    Primary source
    HGNC:HGNC:25979
    See related
    Ensembl:ENSG00000100335 MIM:615497; AllianceGenome:HGNC:25979
    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
    D3A; MID51; OPA14; L0R8F8; SMCR7L; AltMIEF1; HSU79252; MIEF1-MP; dJ1104E15.3
    Summary
    Enables identical protein binding activity; mitochondrial large ribosomal subunit binding activity; and purine ribonucleotide binding activity. Involved in several processes, including mitochondrial large ribosomal subunit assembly; mitochondrion organization; and regulation of mitochondrion organization. Located in mitochondrial matrix and mitochondrial outer membrane. Implicated in optic atrophy. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 13.7), kidney (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MIEF1 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39500100..39518132)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39970729..39988762)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39896105..39914137)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TGF-beta activated kinase 1 (MAP3K7) binding protein 1 Neighboring gene uncharacterized LOC100506472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39829518-39830236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39830237-39830954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19048 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:39843664-39843855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39844165-39845073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19050 Neighboring gene CRISPRi-validated cis-regulatory element chr22.2018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19055 Neighboring gene beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39866163-39867092 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:39869361-39869718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39869884-39870813 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39874451-39874952 Neighboring gene MGAT3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 8945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39891955-39892455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13756 Neighboring gene uncharacterized LOC105373035 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39898075-39898576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39898577-39899076 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:39906581-39907106 Neighboring gene mitochondrial elongation factor 1 upstream open reading frame Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39919051-39919552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39927967-39928482 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39928483-39928998 Neighboring gene activating transcription factor 4 Neighboring gene ribosomal protein S19 binding protein 1

    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 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. Expression, purification, crystallization and preliminary crystallographic study of the cytoplasmic domain of the mitochondrial dynamics protein MiD51. Ma J, et al. Acta Crystallogr F Struct Biol Commun, 2014 May. PMID 24817717, Free PMC Article
    2. Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy. Charif M, et al. Mol Neurodegener, 2021 Feb 25. PMID 33632269, Free PMC Article
    3. Ischemia/reperfusion-induced MiD51 upregulation recruits Drp1 to mitochondria and contributes to myocardial injury. Gao T, et al. Biochem Biophys Res Commun, 2023 Jul 12. PMID 37149986
    4. The mitochondrial elongation factors MIEF1 and MIEF2 exert partially distinct functions in mitochondrial dynamics. Liu T, et al. Exp Cell Res, 2013 Nov 1. PMID 23880462
    5. Epigenetic Dysregulation of the Dynamin-Related Protein 1 Binding Partners MiD49 and MiD51 Increases Mitotic Mitochondrial Fission and Promotes Pulmonary Arterial Hypertension: Mechanistic and Therapeutic Implications. Chen KH, et al. Circulation, 2018 Jul 17. PMID 29431643, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ischemia/reperfusion-induced MiD51 upregulation recruits Drp1 to mitochondria and contributes to myocardial injury.
      Title: Ischemia/reperfusion-induced MiD51 upregulation recruits Drp1 to mitochondria and contributes to myocardial injury.
    2. Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics.
      Title: Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics.
    3. Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy.
      Title: Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy.
    4. An epigenetic increase in mitochondrial fission by MiD49 and MiD51 regulates the cell cycle in cancer: Diagnostic and therapeutic implications.
      Title: An epigenetic increase in mitochondrial fission by MiD49 and MiD51 regulates the cell cycle in cancer: Diagnostic and therapeutic implications.
    5. The study uncovers a bridging role of MIEF1 integrating cell death and mitophagy, unlikely dependent on mitochondrial dynamics, implying new insights to mechanisms determining cellular fate.
      Title: Loss of MIEF1/MiD51 confers susceptibility to BAX-mediated cell death and PINK1-PRKN-dependent mitophagy.
    6. We found that the receptors mitochondrial fission factor (Mff) and mitochondrial elongation factor 1/2 (MIEF1/2) interact with and recruit Drp1(pS637) to mitochondria and that elevated Mff or MIEF levels promote Drp1(pS637) accumulation on mitochondria. We also noted that protein kinase A (PKA), which mediates phosphorylation of Drp1 on Ser-637, is partially present on mitochondria and interacts with both MIEFs and Mff
      Title: The phosphorylation status of Ser-637 in dynamin-related protein 1 (Drp1) does not determine Drp1 recruitment to mitochondria.
    7. In health, MiD51 regulate Drp1-mediated fission, whereas in disease, epigenetic upregulation of MiD51 increases mitotic fission, which drives pathological proliferation and apoptosis resistance
      Title: Epigenetic Dysregulation of the Dynamin-Related Protein 1 Binding Partners MiD49 and MiD51 Increases Mitotic Mitochondrial Fission and Promotes Pulmonary Arterial Hypertension: Mechanistic and Therapeutic Implications.
    8. Loss of mitochondrial elongation factor 1 microprotein (MIEF1-MP) decreases the mitochondrial translation rate, while an elevated level of MIEF1-MP increases the translation rate
      Title: MIEF1 Microprotein Regulates Mitochondrial Translation.
    9. MiD51 inhibits Drp1, whereas ADP promotes MiD51-mediated fission. [review]
      Title: The role of Drp1 adaptor proteins MiD49 and MiD51 in mitochondrial fission: implications for human disease.
    10. The results indicate that Drp1-dependent mitochondrial fission through MiD49/MiD51 regulates cristae remodeling during intrinsic apoptosis.
      Title: Drp1-dependent mitochondrial fission via MiD49/51 is essential for apoptotic cristae remodeling.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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
    Optic atrophy 14
    MedGen: C5882708 OMIM: 620550 GeneReviews: Not available
    		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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20232

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial fission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in positive regulation of protein targeting to membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein targeting to membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in peroxisome TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondrial dynamics protein MIEF1
    Names
    DANGER family member 3A
    MIEF1 microprotein
    SMCR7-like protein
    Smith-Magenis syndrome chromosome region, candidate 7-like
    alternative MIEF1 protein
    alternative protein SMCR7L
    mitochondrial dynamic protein MID51
    mitochondrial dynamic protein of 51 kDa
    mitochondrial dynamics protein MID51
    mitochondrial dynamics protein of 51 kDa
    smith-Magenis syndrome chromosomal region candidate gene 7 protein-like

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001304564.2 → NP_001291493.1  mitochondrial dynamics protein MIEF1 isoform 2

      See identical proteins and their annotated locations for NP_001291493.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon and lacks an internal segment in the 3' region, compared to variant 1. The resulting isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL136768, AL834205, BC002587, BC047292, BC054037
      Consensus CDS
      CCDS77678.1
      UniProtKB/TrEMBL
      B0QY95, Q9H0J7
      Related
      ENSP00000385110.1, ENST00000402881.5
      Conserved Domains (1) summary
      pfam03281
      Location:191 → 431
      Mab-21; Mab-21 protein

    2. NM_019008.6 → NP_061881.2  mitochondrial dynamics protein MIEF1 isoform 1

      See identical proteins and their annotated locations for NP_061881.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents a predominant transcript, which encodes a 463aa protein (isoform 1).
      Source sequence(s)
      AL022312
      Consensus CDS
      CCDS13995.1
      UniProtKB/Swiss-Prot
      Q52MA5, Q7L890, Q9BUI3, Q9NQG6
      UniProtKB/TrEMBL
      Q9H0J7
      Related
      ENSP00000327124.2, ENST00000325301.7
      Conserved Domains (1) summary
      pfam03281
      Location:191 → 446
      Mab-21; Mab-21 protein

    RNA

    1. NR_130789.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, , compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL834205, BC047292, BC054037, DA192893

    2. NR_130790.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an additional internal exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK000239, AK290954, AL022312, DA192893

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      39500100..39518132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      39970729..39988762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001394030.1: Suppressed sequence

      Description
      NM_001394030.1: This RefSeq was removed because it is now represented as a separate protein-coding gene.

    2. NM_013298.1: Suppressed sequence

      Description
      NM_013298.1: This RefSeq was permanently suppressed because it is based on a chimeric sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQG6.1 GenPept UniProtKB/Swiss-Prot:Q9NQG6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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