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MIEF1 Gene

protein-coding   GIFtS: 39
GCID: GC22P039896

Mitochondrial Elongation Factor 1

(Previous names: Smith-Magenis syndrome chromosome region, candidate 7-like)
(Previous symbol: SMCR7L)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrial Elongation Factor 11 2 3     HSU792522
SMCR7L1 2 3 5     dJ1104E15.32
MID512 3 5     Mitochondrial Dynamic Protein MID512
Smith-Magenis Syndrome Chromosome Region, Candidate 7-Like1 2     Mitochondrial Dynamic Protein Of 51 KDa2
Mitochondrial Dynamics Protein Of 51 KDa2 3     Mitochondrial Dynamics Protein MID512
Smith-Magenis Syndrome Chromosomal Region Candidate Gene 7 Protein-Like2 3     MEIF15
SMCR7-Like Protein2 3     

External Ids:    HGNC: 259791   Entrez Gene: 544712   Ensembl: ENSG000001003357   OMIM: 6154975   UniProtKB: Q9NQG63   

Export aliases for MIEF1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. An important paralog of this gene is MIEF2.

UniProtKB/Swiss-Prot: MID51_HUMAN, Q9NQG6
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

Gene Wiki entry for MIEF1 (SMCR7L) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for MIEF1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMIEF1 promoter sequence
   Search Chromatin IP Primers for MIEF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MIEF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

MIEF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIEF1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P039896:  view genomic region     (about GC identifiers)

Start:
39,895,437 bp from pter      End:
39,914,137 bp from pter
Size:
18,701 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MID51_HUMAN, Q9NQG6 (See protein sequence)
Recommended Name: Mitochondrial dynamics protein MID51  
Size: 463 amino acids; 51293 Da
Subunit: Homodimer. Interacts with DNM1L
5 PDB 3D structures from and Proteopedia for MIEF1:
4NXT (3D)        4NXU (3D)        4NXV (3D)        4NXW (3D)        4NXX (3D)    
Secondary accessions: Q9BUI3

Explore the universe of human proteins at neXtProt for MIEF1: NX_Q9NQG6

Explore proteomics data for MIEF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MIEF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061881.2  
    ENSEMBL proteins: 
     ENSP00000385110   ENSP00000404096   ENSP00000327124   ENSP00000385191   ENSP00000390029  
     ENSP00000413730  

    MIEF1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR024810 Mab-21_dom

    Graphical View of Domain Structure for InterPro Entry Q9NQG6

    ProtoNet protein and cluster: Q9NQG6

    UniProtKB/Swiss-Prot: MID51_HUMAN, Q9NQG6
    Similarity: Belongs to the SMCR7 family


    Find genes that share domains with MIEF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MID51_HUMAN, Q9NQG6
    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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0042802identical protein binding IPI--
         
    Find genes that share ontologies with MIEF1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MIEF1
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    miRTarBase miRNAs that target MIEF1:
    hsa-mir-744-5p (MIRT037547), hsa-mir-98-5p (MIRT027750), hsa-mir-504-5p (MIRT041090), hsa-mir-124-3p (MIRT022899), hsa-mir-22-5p (MIRT038964), hsa-mir-196a-5p (MIRT026065), hsa-let-7d-5p (MIRT032143), hsa-mir-296-3p (MIRT038354), hsa-mir-484 (MIRT041916)

    Block miRNA regulation of human, mouse, rat MIEF1 using miScript Target Protectors
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MID51_HUMAN, Q9NQG6: Mitochondrion outer membrane; Single-pass membrane protein

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane IDA--
    GO:0005777NOT peroxisome TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with MIEF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MIEF1
    Interactions:

        Search GeneGlobe Interaction Network for MIEF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for MIEF1 (Q9NQG61, 2, 3 ENSP000003271244) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNM1LO004291, 2, 3, ENSP000002664814EBI-740987,EBI-724571 MINT-8212983 MINT-8212912 MINT-8212925 MINT-8212819 MINT-8212806 MINT-8212858 MINT-8293107 MINT-8212881 MINT-8212834 I2D: score=1 STRING: ENSP00000266481
    FIS1Q9Y3D61, 2, 3, ENSP000002231364EBI-740987,EBI-3385283 MINT-8212968 MINT-8293136 MINT-8212925 MINT-8212955 I2D: score=1 STRING: ENSP00000223136
    YWHAGP619812, 3, ENSP000003063304MINT-50866 I2D: score=3 STRING: ENSP00000306330
    MIEF1Q9NQG61, 2EBI-740987,EBI-740987 MINT-8212789
    MAGEA1P433553, ENSP000003490854I2D: score=3 STRING: ENSP00000349085
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000266mitochondrial fission IMP--
    GO:0008053NOT mitochondrial fusion IMP--
    GO:0090141positive regulation of mitochondrial fission TAS--
    GO:0090314NOT positive regulation of protein targeting to membrane IDA--

    Find genes that share ontologies with MIEF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MIEF1 (MID51)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MIEF1 gene: 
    NM_019008.4  

    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464629 ENST00000402881(uc003axw.3) ENST00000467866 ENST00000465564
    ENST00000489792 ENST00000478342 ENST00000481746 ENST00000433117 ENST00000325301(uc003axx.3 uc003axy.3)
    ENST00000494219 ENST00000404569(uc010gxz.1) ENST00000434364 ENST00000428069
    ENST00000479514
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MIEF1
      QuantiFast Probe-based Assays in human, mouse, rat MIEF1

    Selected AceView cDNA sequences (see all 2626):

    NM_182810 BM756881 CA416321 AA026457 CD370893 AI479769 BQ688295 BU630351 
    AI371842 BX410223 BQ931626 BE385753 BX446126 BM744432 CD513589 AA902158 
    BF915944 BU173925 BC016855 CB133405 AW503297 BC008327 CB108923 CB149351 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MIEF1 (see all 17)    About this scheme

    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:                    -     -                             -     -     -                                                                                       

    ExUns: 13a · 13b · 13c ^ 14a · 14b · 14c · 14d · 14e · 14f ^ 15
    SP1:                                                            
    SP2:                    -                                       
    SP3:                    -                                       
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for MIEF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MIEF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MIEF1 Expression
    About this image

    MIEF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MIEF1 Protein Expression

    UniProtKB/Swiss-Prot: MID51_HUMAN, Q9NQG6
    Tissue specificity: Expression is relatively high in heart, skeletal muscle, pancreas and kidney

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIEF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MIEF1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smcr7l5
    Mief11
    Smith-Magenis syndrome chromosome region, candidate more5
    mitochondrial elongation factor 11
    90.78(n)1
    97.84(a)1
      15 (37.85 cM)5
    2395551  NM_178719.51  NP_848834.21 
     802340805 
    chicken
    (Gallus gallus)
    Aves SMCR7L1 Smith-Magenis syndrome chromosome region, candidate more 78.76(n)
    86.39(a)
      418012  XM_416248.4  XP_416248.2 
    lizard
    (Anolis carolinensis)
    Reptilia MIEF16
    mitochondrial elongation factor 1
    86(a)
    1 ↔ 1
    5(24891468-24897644)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144882 Xenopus laevis transcribed sequences 77.35(n)    BJ042453.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mief11 mitochondrial elongation factor 1 67.39(n)
    71.68(a)
      564985  NM_001083840.1  NP_001077309.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MIEF1 gene
    MIEF22  
    3 SIMAP similar genes for MIEF1 using alignment to 3 protein entries:     MID51_HUMAN (see all proteins):
    DKFZp434F0116    DKFZp434E0130    MIEF2

    Find genes that share paralogs with MIEF1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MIEF1 (see all 461)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs566579801,2
    C,F--39896473(+) AGAAAG/ATCAGG 1 -- us2k12Minor allele frequency- A:0.10WA 120
    rs1827543381,2
    --39896633(+) GAAAGC/TTTCTT 1 -- us2k10--------
    rs1395414081,2
    --39896688(+) TCTTGA/GTTTTC 1 -- us2k10--------
    rs1130757541,2
    C,F--39896762(+) TAGCGC/TGATCT 1 -- us2k14Minor allele frequency- T:0.20WA CSA 5
    rs1875047831,2
    --39896876(+) TTGTAG/TTTTTA 1 -- us2k10--------
    rs1124246761,2
    C,F--39896935(+) ACCTCA/GAGTAG 1 -- us2k12Minor allele frequency- G:0.07NA 122
    rs1918859501,2
    --39896992(+) CCACCA/GTGCCC 1 -- us2k10--------
    rs72876171,2
    C,F,H--39897163(+) TTCTGA/GTAAGG 1 -- us2k124Minor allele frequency- G:0.15NS EA NA WA CSA 1991
    rs1829825651,2
    --39897231(+) TTCTCC/TCTGTG 1 -- us2k10--------
    rs1443548461,2
    C--39897273(+) CCTGGA/GGGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MIEF1 (39895437 - 39914137 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MIEF1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MIEF1
    DNA2.0 Custom Variant and Variant Library Synthesis for MIEF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615497    OMIM disorders: --


    Find genes that share disorders with MIEF1           About GenesLikeMe


    Export disorders for MIEF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MIEF1 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with MIEF1)
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    1. Human MIEF1 recruits Drp1 to mitochondrial outer membranes and promotes mitochondrial fusion rather than fission. (PubMed id 21701560)1, 2, 3 Zhao J.... Nister M. (EMBO J. 2011)
    2. MiD49 and MiD51, new components of the mitochondrial fission machinery. (PubMed id 21508961)1, 2, 3 Palmer C.S....Ryan M.T. (EMBO Rep. 2011)
    3. Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission. (PubMed id 23283981)1, 2 LosA^n O.C....Chan D.C. (Mol. Biol. Cell 2013)
    4. MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission. (PubMed id 23921378)1, 2 Palmer C.S....Ryan M.T. (J. Biol. Chem. 2013)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    6. The mitochondrial elongation factors MIEF1 and MIEF2 exert partially distinct functions in mitochondrial dynamics. (PubMed id 23880462)1 Liu T....NistAcr M. (Exp. Cell Res. 2013)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. Interchangeable adaptors regulate mitochondrial dynamin assembly for membrane scission. (PubMed id 23530241)2 Koirala S....Shaw J.M. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54471 HGNC: 25979 AceView: ATF4andFLJ20232 Ensembl:ENSG00000100335 euGenes: HUgn54471
    ECgene: MIEF1 H-InvDB: MIEF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MIEF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MIEF1 gene:
    Search GeneIP for patents involving MIEF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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