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

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics.
Title: Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics.
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.
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.
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.
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.
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.
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.
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.
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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57575 (e-PCR)
- UniSTS:52744

SGC30687 (e-PCR)
- UniSTS:2629

RH138 (e-PCR)
- UniSTS:84864

RH64903 (e-PCR)
- UniSTS:4754

G20660 (e-PCR)
- UniSTS:62937

A006A38 (e-PCR)
- UniSTS:62938

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 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)

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
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

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
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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

39500100..39518132

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NM_001394030.1: Suppressed sequence

Description

NM_001394030.1: This RefSeq was removed because it is now represented as a separate protein-coding gene.
NM_013298.1: Suppressed sequence

Description

NM_013298.1: This RefSeq was permanently suppressed because it is based on a chimeric sequence.