UniProtKB - Q96C03 (MID49_HUMAN)
Protein
Mitochondrial dynamics protein MID49
Gene
MIEF2
Organism
Homo sapiens (Human)
Status
Functioni
Mitochondrial outer membrane protein which regulates mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and 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.6 Publications
Miscellaneous
Does not bind ADP or other nucleotides, in contrast to MIEF1.By similarity
GO - Biological processi
- dynamin family protein polymerization involved in mitochondrial fission Source: UniProtKB
- mitochondrion organization Source: UniProtKB
- positive regulation of mitochondrial fission Source: UniProtKB
- positive regulation of protein targeting to membrane Source: UniProtKB
- regulation of mitochondrion organization Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q96C03 |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial dynamics protein MID49Alternative name(s): Mitochondrial dynamics protein of 49 kDa Mitochondrial elongation factor 2 Smith-Magenis syndrome chromosomal region candidate gene 7 protein |
Gene namesi | Name:MIEF2 Synonyms:MID49, SMCR7 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000177427.12 |
HGNCi | HGNC:17920, MIEF2 |
MIMi | 615498, gene |
neXtProti | NX_Q96C03 |
Subcellular locationi
Mitochondrion
- Mitochondrion outer membrane 1 Publication; Single-pass membrane protein 1 Publication
Note: Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria.
Mitochondrion
- mitochondrial outer membrane Source: UniProtKB
- mitochondrion Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 22 | Mitochondrial intermembraneSequence analysisAdd BLAST | 22 | |
Transmembranei | 23 – 43 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 44 – 454 | CytoplasmicSequence analysisAdd BLAST | 411 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion outer membranePathology & Biotechi
Involvement in diseasei
A homozygous stop-gain variant in MIEF2 has been found in a patient with autosomal recessive myopathy. Clinical and biochemical features include progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated creatine kinase levels, and deficiency of multiple respiratory chain enzymes.1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 235 | R → E: Unable to associate with DNM1L into filaments forming the tubular structures that wrap around the scission site. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 125170 |
OpenTargetsi | ENSG00000177427 |
PharmGKBi | PA38265 |
Miscellaneous databases
Pharosi | Q96C03, Tbio |
Polymorphism and mutation databases
BioMutai | MIEF2 |
DMDMi | 74731298 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000310445 | 1 – 454 | Mitochondrial dynamics protein MID49Add BLAST | 454 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 13 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q96C03 |
MassIVEi | Q96C03 |
PaxDbi | Q96C03 |
PeptideAtlasi | Q96C03 |
PRIDEi | Q96C03 |
ProteomicsDBi | 76139 [Q96C03-1] 76140 [Q96C03-2] |
PTM databases
iPTMneti | Q96C03 |
PhosphoSitePlusi | Q96C03 |
Expressioni
Tissue specificityi
Expressed in all tissues tested with highest expression in heart and skeletal muscle.1 Publication
Gene expression databases
Bgeei | ENSG00000177427, Expressed in vagina and 169 other tissues |
ExpressionAtlasi | Q96C03, baseline and differential |
Genevisiblei | Q96C03, HS |
Organism-specific databases
HPAi | ENSG00000177427, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with DNM1L.
4 PublicationsBinary interactionsi
Hide detailsQ96C03
Isoform 3 [Q96C03-3]
Protein-protein interaction databases
BioGRIDi | 125921, 30 interactors |
IntActi | Q96C03, 28 interactors |
MINTi | Q96C03 |
STRINGi | 9606.ENSP00000379057 |
Miscellaneous databases
RNActi | Q96C03, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the MID49/MID51 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QPJX, Eukaryota |
GeneTreei | ENSGT00390000013127 |
HOGENOMi | CLU_046803_0_0_1 |
InParanoidi | Q96C03 |
OMAi | CLTLQEK |
OrthoDBi | 515815at2759 |
PhylomeDBi | Q96C03 |
TreeFami | TF331032 |
Family and domain databases
InterProi | View protein in InterPro IPR024810, Mab-21_dom |
Pfami | View protein in Pfam PF03281, Mab-21, 1 hit |
SMARTi | View protein in SMART SM01265, Mab-21, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96C03-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAEFSQKRGK RRSDEGLGSM VDFLLANARL VLGVGGAAVL GIATLAVKRF
60 70 80 90 100
IDRATSPRDE DDTKADSWKE LSLLKATPHL QPRPPPAALS QPVLPLAPSS
110 120 130 140 150
SAPEGPAETD PEVTPQLSSP APLCLTLQER LLAFERDRVT IPAAQVALAK
160 170 180 190 200
QLAGDIALEL QAYFRSKFPE LPFGAFVPGG PLYDGLQAGA ADHVRLLVPL
210 220 230 240 250
VLEPGLWSLV PGVDTVARDP RCWAVRRTQL EFCPRGSSPW DRFLVGGYLS
260 270 280 290 300
SRVLLELLRK ALAASVNWPA IGSLLGCLIR PSMASEELLL EVQHERLELT
310 320 330 340 350
VAVLVAVPGV DADDRLLLAW PLEGLAGNLW LQDLYPVEAA RLRALDDHDA
360 370 380 390 400
GTRRRLLLLL CAVCRGCSAL GQLGRGHLTQ VVLRLGEDNV DWTEEALGER
410 420 430 440 450
FLQALELLIG SLEQASLPCH FNPSVNLFSS LREEEIDDIG YALYSGLQEP
EGLL
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KTJ4 | J3KTJ4_HUMAN | Mitochondrial dynamics protein MID4... | MIEF2 | 117 | Annotation score: | ||
J3QR30 | J3QR30_HUMAN | Mitochondrial dynamics protein MID4... | MIEF2 | 121 | Annotation score: | ||
K7EKV6 | K7EKV6_HUMAN | Mitochondrial dynamics protein MID4... | MIEF2 | 159 | Annotation score: | ||
A8MT25 | A8MT25_HUMAN | Mitochondrial dynamics protein MID4... | MIEF2 | 163 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 249 | L → F in BAB71108 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081553 | 81 – 454 | Missing Probable disease-associated variant found in a patient with autosomal recessive myopathy; patient cells have reduced MIEF2 protein levels and show elongated mitochondria and increased mitochondrial fusion events. 1 PublicationAdd BLAST | 374 | |
Natural variantiVAR_037038 | 324 | G → E. Corresponds to variant dbSNP:rs12603700Ensembl. | 1 | |
Natural variantiVAR_037039 | 354 | R → Q. Corresponds to variant dbSNP:rs3751981Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047650 | 1 | M → MGLSPNLDRQTM in isoform 3. Curated | 1 | |
Alternative sequenceiVSP_029358 | 104 – 205 | EGPAE…VLEPG → GEAAGLRAGPCDHPSSPGGF GQTAGWRHRPGAAGLLSEQV PGTALWGIRAWGAALRRAAG GGCGPCASPGATGAGAGPVE PGAGRGHCGEGPSLLGRAQD AA in isoform 2. 1 PublicationAdd BLAST | 102 | |
Alternative sequenceiVSP_029359 | 206 – 454 | Missing in isoform 2. 1 PublicationAdd BLAST | 249 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF467443 mRNA Translation: AAL78340.1 AK056165 mRNA Translation: BAB71108.1 AK128310 mRNA Translation: BAC87377.1 AC127537 Genomic DNA No translation available. CH471196 Genomic DNA Translation: EAW55651.1 CH471196 Genomic DNA Translation: EAW55652.1 BC014973 mRNA Translation: AAH14973.1 |
CCDSi | CCDS11193.1 [Q96C03-1] CCDS45624.1 [Q96C03-3] CCDS45625.1 [Q96C03-2] |
RefSeqi | NP_001138372.1, NM_001144900.1 [Q96C03-2] NP_631901.2, NM_139162.3 [Q96C03-1] NP_683684.2, NM_148886.1 [Q96C03-3] |
Genome annotation databases
Ensembli | ENST00000323019; ENSP00000323591; ENSG00000177427 [Q96C03-1] ENST00000395704; ENSP00000379056; ENSG00000177427 [Q96C03-2] ENST00000395706; ENSP00000379057; ENSG00000177427 [Q96C03-3] ENST00000640122; ENSP00000491181; ENSG00000284495 [Q96C03-1] ENST00000640339; ENSP00000492195; ENSG00000284495 [Q96C03-3] ENST00000640637; ENSP00000490984; ENSG00000284495 [Q96C03-2] |
GeneIDi | 125170 |
KEGGi | hsa:125170 |
UCSCi | uc002gst.4, human [Q96C03-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF467443 mRNA Translation: AAL78340.1 AK056165 mRNA Translation: BAB71108.1 AK128310 mRNA Translation: BAC87377.1 AC127537 Genomic DNA No translation available. CH471196 Genomic DNA Translation: EAW55651.1 CH471196 Genomic DNA Translation: EAW55652.1 BC014973 mRNA Translation: AAH14973.1 |
CCDSi | CCDS11193.1 [Q96C03-1] CCDS45624.1 [Q96C03-3] CCDS45625.1 [Q96C03-2] |
RefSeqi | NP_001138372.1, NM_001144900.1 [Q96C03-2] NP_631901.2, NM_139162.3 [Q96C03-1] NP_683684.2, NM_148886.1 [Q96C03-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5WP9 | electron microscopy | 4.22 | B/D/F/H/J/L/N/P | 126-454 | [»] | |
SMRi | Q96C03 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 125921, 30 interactors |
IntActi | Q96C03, 28 interactors |
MINTi | Q96C03 |
STRINGi | 9606.ENSP00000379057 |
PTM databases
iPTMneti | Q96C03 |
PhosphoSitePlusi | Q96C03 |
Polymorphism and mutation databases
BioMutai | MIEF2 |
DMDMi | 74731298 |
Proteomic databases
jPOSTi | Q96C03 |
MassIVEi | Q96C03 |
PaxDbi | Q96C03 |
PeptideAtlasi | Q96C03 |
PRIDEi | Q96C03 |
ProteomicsDBi | 76139 [Q96C03-1] 76140 [Q96C03-2] |
Protocols and materials databases
Antibodypediai | 49918, 66 antibodies |
DNASUi | 125170 |
Genome annotation databases
Ensembli | ENST00000323019; ENSP00000323591; ENSG00000177427 [Q96C03-1] ENST00000395704; ENSP00000379056; ENSG00000177427 [Q96C03-2] ENST00000395706; ENSP00000379057; ENSG00000177427 [Q96C03-3] ENST00000640122; ENSP00000491181; ENSG00000284495 [Q96C03-1] ENST00000640339; ENSP00000492195; ENSG00000284495 [Q96C03-3] ENST00000640637; ENSP00000490984; ENSG00000284495 [Q96C03-2] |
GeneIDi | 125170 |
KEGGi | hsa:125170 |
UCSCi | uc002gst.4, human [Q96C03-1] |
Organism-specific databases
CTDi | 125170 |
DisGeNETi | 125170 |
EuPathDBi | HostDB:ENSG00000177427.12 |
GeneCardsi | MIEF2 |
HGNCi | HGNC:17920, MIEF2 |
HPAi | ENSG00000177427, Low tissue specificity |
MIMi | 615498, gene |
neXtProti | NX_Q96C03 |
OpenTargetsi | ENSG00000177427 |
PharmGKBi | PA38265 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPJX, Eukaryota |
GeneTreei | ENSGT00390000013127 |
HOGENOMi | CLU_046803_0_0_1 |
InParanoidi | Q96C03 |
OMAi | CLTLQEK |
OrthoDBi | 515815at2759 |
PhylomeDBi | Q96C03 |
TreeFami | TF331032 |
Enzyme and pathway databases
PathwayCommonsi | Q96C03 |
Miscellaneous databases
BioGRID-ORCSi | 125170, 7 hits in 830 CRISPR screens |
ChiTaRSi | MIEF2, human |
GenomeRNAii | 125170 |
Pharosi | Q96C03, Tbio |
PROi | PR:Q96C03 |
RNActi | Q96C03, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000177427, Expressed in vagina and 169 other tissues |
ExpressionAtlasi | Q96C03, baseline and differential |
Genevisiblei | Q96C03, HS |
Family and domain databases
InterProi | View protein in InterPro IPR024810, Mab-21_dom |
Pfami | View protein in Pfam PF03281, Mab-21, 1 hit |
SMARTi | View protein in SMART SM01265, Mab-21, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MID49_HUMAN | |
Accessioni | Q96C03Primary (citable) accession number: Q96C03 Secondary accession number(s): J3KPT3, Q6ZRD4, Q96N07 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 13, 2007 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 132 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations