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

Gene ID: 54471, updated on 5-Mar-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 ADP binding activity; GDP binding activity; and identical protein binding activity. Involved in several processes, including positive regulation of mitochondrial fission; positive regulation of mitochondrial translation; and positive regulation of protein targeting to membrane. Located in mitochondrial matrix and mitochondrial outer membrane. Colocalizes with mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 13.7), kidney (RPKM 8.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
22q13.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39500100..39518132)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39970729..39988762)
105.20220307 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
  • 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. 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
  2. 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
  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. Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics. Wong YC, et al. J Cell Biol, 2022 Oct 3. PMID 36044022, Free PMC Article
  5. An epigenetic increase in mitochondrial fission by MiD49 and MiD51 regulates the cell cycle in cancer: Diagnostic and therapeutic implications. Dasgupta A, et al. FASEB J, 2020 Apr. PMID 32068312

See all (54) 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: CN375629 OMIM: 620550 GeneReviews: Not available
not available

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 
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 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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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
    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_2023_10

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

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