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Aliases for MIEF1 Gene

Aliases for MIEF1 Gene

  • Mitochondrial Elongation Factor 1 2 3 4 5
  • Smith-Magenis Syndrome Chromosomal Region Candidate Gene 7 Protein-Like 3 4
  • Smith-Magenis Syndrome Chromosome Region, Candidate 7-Like 2 3
  • Mitochondrial Dynamics Protein Of 51 KDa 3 4
  • SMCR7-Like Protein 3 4
  • SMCR7L 3 4
  • MID51 3 4
  • Mitochondrial Dynamic Protein Of 51 KDa 3
  • Mitochondrial Dynamics Protein MID51 3
  • Mitochondrial Dynamic Protein MID51 3
  • DJ1104E15.3 3
  • HSU79252 3

External Ids for MIEF1 Gene

Previous HGNC Symbols for MIEF1 Gene

  • SMCR7L

Previous GeneCards Identifiers for MIEF1 Gene

  • GC22P039896

Summaries for MIEF1 Gene

GeneCards Summary for MIEF1 Gene

MIEF1 (Mitochondrial Elongation Factor 1) is a Protein Coding gene. GO annotations related to this gene include identical protein binding and ADP binding. An important paralog of this gene is MIEF2.

UniProtKB/Swiss-Prot for MIEF1 Gene

  • Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L.

Gene Wiki entry for MIEF1 Gene

Additional gene information for MIEF1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIEF1 Gene

Genomics for MIEF1 Gene

Regulatory Elements for MIEF1 Gene

Enhancers for MIEF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H039462 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -30.2 -30159 14 HDGF PKNOX1 MLX ARID4B DMAP1 YY1 ZNF143 SP5 REST ZNF592 MGAT3 SYNGR1 ENSG00000230912 MIEF1 RPS19BP1 TAB1 MGAT3-AS1 DDX17
GH22H038702 1.6 Ensembl ENCODE dbSUPER 10.8 -793.7 -793717 6 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF207 CBY1 FAM227A ENSG00000228274 DDX17 JOSD1 RPL3 SNORD83B MIEF1 PLA2G6 GTPBP1
GH22H038750 1.6 FANTOM5 ENCODE dbSUPER 10.8 -744.8 -744765 9 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 FAM227A CBY1 ENSG00000228274 SUN2 GTPBP1 DNAL4 MIEF1 JOSD1 APOBEC3G APOBEC3D
GH22H039958 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.3 +461.2 461214 4 HDGF ATF1 ARNT TCF12 ZNF766 FOS ATF7 RUNX3 NCOA1 JUNB FAM83F GRAP2 ENTHD1 CACNA1I MIEF1 TNRC6B ENSG00000225528 GC22P039976
GH22H039452 1.5 Ensembl ENCODE dbSUPER 10.8 -45.6 -45556 2 PKNOX1 ATF1 TCF12 ZNF121 ZNF766 GATA2 ELK1 CAVIN1 NCOA1 ZNF592 SYNGR1 MGAT3-AS1 MIEF1 MGAT3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIEF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MIEF1 Gene

Chromosome:
22
Start:
39,499,432 bp from pter
End:
39,518,134 bp from pter
Size:
18,703 bases
Orientation:
Plus strand

Genomic View for MIEF1 Gene

Genes around MIEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIEF1 Gene

Proteins for MIEF1 Gene

  • Protein details for MIEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    L0R8F8-MIDUO_HUMAN
    Recommended name:
    MIEF1 upstream open reading frame protein
    Protein Accession:
    L0R8F8

    Protein attributes for MIEF1 Gene

    Size:
    70 amino acids
    Molecular mass:
    8445 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MIEF1 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for MIEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQG6-MID51_HUMAN
    Recommended name:
    Mitochondrial dynamics protein MID51
    Protein Accession:
    Q9NQG6
    Secondary Accessions:
    • Q7L890
    • Q9BUI3

    Protein attributes for MIEF1 Gene

    Size:
    463 amino acids
    Molecular mass:
    51293 Da
    Quaternary structure:
    • Homodimer. Interacts with DNM1L.

    Three dimensional structures from OCA and Proteopedia for MIEF1 Gene

    Alternative splice isoforms for MIEF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIEF1 Gene

Post-translational modifications for MIEF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MIEF1 Gene

Domains & Families for MIEF1 Gene

Gene Families for MIEF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MIEF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MIEF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NQG6

UniProtKB/Swiss-Prot:

MID51_HUMAN :
  • Belongs to the SMCR7 family.
Family:
  • Belongs to the SMCR7 family.
  • Belongs to the complex I LYR family.
genes like me logo Genes that share domains with MIEF1: view

Function for MIEF1 Gene

Molecular function for MIEF1 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L.

Phenotypes From GWAS Catalog for MIEF1 Gene

Gene Ontology (GO) - Molecular Function for MIEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0019003 GDP binding IDA 24515348
GO:0042802 identical protein binding IPI 21701560
GO:0043531 ADP binding IDA 24515348
genes like me logo Genes that share ontologies with MIEF1: view
genes like me logo Genes that share phenotypes with MIEF1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MIEF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MIEF1 Gene

Localization for MIEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIEF1 Gene

Mitochondrion outer membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIEF1 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2
plasma membrane 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MIEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 23921378
GO:0005741 mitochondrial outer membrane IDA,IEA 21508961
GO:0005777 NOT peroxisome TAS 23921378
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MIEF1: view

Pathways & Interactions for MIEF1 Gene

SuperPathways for MIEF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MIEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IMP 21701560
GO:0008053 NOT mitochondrial fusion IMP 23921378
GO:0071456 cellular response to hypoxia IEA --
GO:0090141 positive regulation of mitochondrial fission TAS 23921378
GO:0090314 NOT positive regulation of protein targeting to membrane IDA 23921378
genes like me logo Genes that share ontologies with MIEF1: view

No data available for Pathways by source and SIGNOR curated interactions for MIEF1 Gene

Drugs & Compounds for MIEF1 Gene

No Compound Related Data Available

Transcripts for MIEF1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MIEF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MIEF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^
SP1: - - - - - - -
SP2: - - - -
SP3: - -
SP4:
SP5: - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - -
SP9: - - - - -
SP10: - - - - - - - - -
SP11: -
SP12: - - - - - - - -
SP13: - - - - - - - - - -
SP14: - -
SP15: - - -
SP16:
SP17:

ExUns: 13a · 13b · 13c ^ 14a · 14b · 14c · 14d · 14e · 14f ^ 15
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for MIEF1 Gene

GeneLoc Exon Structure for
MIEF1
ECgene alternative splicing isoforms for
MIEF1

Expression for MIEF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MIEF1 Gene

Protein differential expression in normal tissues from HIPED for MIEF1 Gene

This gene is overexpressed in Bone (34.3) and Peripheral blood mononuclear cells (20.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MIEF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MIEF1 Gene:

MIEF1

mRNA Expression by UniProt/SwissProt for MIEF1 Gene:

L0R8F8-MIDUO_HUMAN
Tissue specificity: Expression is relatively high in heart, skeletal muscle, pancreas and kidney.

Evidence on tissue expression from TISSUES for MIEF1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Lung(2.4)
  • Skin(2)
genes like me logo Genes that share expression patterns with MIEF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIEF1 Gene

Orthologs for MIEF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MIEF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIEF1 34
  • 100 (a)
OneToOne
SMCR7L 33
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia MIEF1 34
  • 98 (a)
OneToOne
SMCR7L 33
  • 93.66 (n)
cow
(Bos Taurus)
Mammalia MIEF1 34
  • 97 (a)
OneToOne
SMCR7L 33
  • 91.58 (n)
rat
(Rattus norvegicus)
Mammalia Mief1 33
  • 91.5 (n)
mouse
(Mus musculus)
Mammalia Mief1 33 16 34
  • 90.78 (n)
oppossum
(Monodelphis domestica)
Mammalia MIEF1 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIEF1 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIEF1 34
  • 86 (a)
OneToOne
SMCR7L 33
  • 78.76 (n)
lizard
(Anolis carolinensis)
Reptilia MIEF1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mief1 33
  • 68.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14488 33
zebrafish
(Danio rerio)
Actinopterygii mief1 33 34
  • 67.39 (n)
Species where no ortholog for MIEF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIEF1 Gene

ENSEMBL:
Gene Tree for MIEF1 (if available)
TreeFam:
Gene Tree for MIEF1 (if available)

Paralogs for MIEF1 Gene

Paralogs for MIEF1 Gene

(3) SIMAP similar genes for MIEF1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MIEF1: view

Variants for MIEF1 Gene

Sequence variations from dbSNP and Humsavar for MIEF1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000210994 -- 39,507,039(+) TAGTA(C/G)GCTGT intron-variant
rs1000347907 -- 39,504,031(+) TCCAG(A/G)ATGGG intron-variant, upstream-variant-2KB
rs1000480615 -- 39,509,301(+) GTATC(C/T)GACTT intron-variant
rs1000545325 -- 39,507,624(+) TTTGA(A/G)AGGCC intron-variant
rs1000713812 -- 39,509,574(+) CAGGT(C/G)AACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MIEF1 Gene

Variant ID Type Subtype PubMed ID
nsv3629 CNV insertion 18451855
nsv834199 CNV loss 17160897

Variation tolerance for MIEF1 Gene

Residual Variation Intolerance Score: 32.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.14; 75.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIEF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIEF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIEF1 Gene

Disorders for MIEF1 Gene

Relevant External Links for MIEF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIEF1

No disorders were found for MIEF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MIEF1 Gene

Publications for MIEF1 Gene

  1. Translation of 5' leaders is pervasive in genes resistant to eIF2 repression. (PMID: 25621764) Andreev DE … Baranov PV (eLife 2015) 3 4 60
  2. Human MIEF1 recruits Drp1 to mitochondrial outer membranes and promotes mitochondrial fusion rather than fission. (PMID: 21701560) Zhao J … Nistér M (The EMBO journal 2011) 2 3 60
  3. MiD49 and MiD51, new components of the mitochondrial fission machinery. (PMID: 21508961) Palmer CS … Ryan MT (EMBO reports 2011) 2 3 60
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for MIEF1 Gene

Sources for MIEF1 Gene

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