UniProtKB - Q9NQG6 (MID51_HUMAN)
Protein
Mitochondrial dynamics protein MID51
Gene
MIEF1
Organism
Homo sapiens (Human)
Status
Functioni
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.7 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 187 | ADP | 1 | |
Binding sitei | 189 | ADP | 1 | |
Binding sitei | 201 | ADP | 1 | |
Binding sitei | 340 | ADP | 1 | |
Binding sitei | 342 | ADP | 1 | |
Binding sitei | 368 | ADP | 1 |
GO - Molecular functioni
- ADP binding Source: MGI
- GDP binding Source: MGI
- identical protein binding Source: IntAct
GO - Biological processi
- mitochondrial fission Source: UniProtKB
- positive regulation of mitochondrial fission Source: UniProtKB
- positive regulation of protein targeting to membrane Source: UniProtKB
Keywordsi
Ligand | Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9NQG6 |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial dynamics protein MID51Alternative name(s): Mitochondrial dynamics protein of 51 kDa Mitochondrial elongation factor 1 Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like Short name: SMCR7-like protein |
Gene namesi | Name:MIEF1 Synonyms:MID51, SMCR7L |
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
HGNCi | HGNC:25979, MIEF1 |
MIMi | 615497, gene |
neXtProti | NX_Q9NQG6 |
VEuPathDBi | HostDB:ENSG00000100335.12 |
Subcellular locationi
Mitochondrion
- Mitochondrion outer membrane 3 Publications; Single-pass membrane protein 3 Publications
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 – 23 | Mitochondrial intermembraneSequence analysisAdd BLAST | 23 | |
Transmembranei | 24 – 46 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 47 – 463 | CytoplasmicSequence analysisAdd BLAST | 417 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion outer membranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 201 | H → D: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with E-342; E-368 and E-372. 1 Publication | 1 | |
Mutagenesisi | 235 | R → A: No effect on mitochondrial localization. Impairs DNM1L recruitment. 1 Publication | 1 | |
Mutagenesisi | 238 – 242 | Missing : No effect on mitochondrial localization. Impairs DNM1L recruitment. 1 Publication | 5 | |
Mutagenesisi | 342 | R → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-368 and E-372. 1 Publication | 1 | |
Mutagenesisi | 368 | K → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-342 and E-372. 1 Publication | 1 | |
Mutagenesisi | 372 | K → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-342 and E-368. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 54471 |
OpenTargetsi | ENSG00000100335 |
PharmGKBi | PA145148068 |
Miscellaneous databases
Pharosi | Q9NQG6, Tbio |
Genetic variation databases
BioMutai | MIEF1 |
DMDMi | 74752902 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000310448 | 1 – 463 | Mitochondrial dynamics protein MID51Add BLAST | 463 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 55 | PhosphoserineCombined sources | 1 | |
Modified residuei | 59 | PhosphoserineCombined sources | 1 | |
Modified residuei | 79 | PhosphoserineBy similarity | 1 | |
Modified residuei | 94 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9NQG6 |
jPOSTi | Q9NQG6 |
MassIVEi | Q9NQG6 |
MaxQBi | Q9NQG6 |
PaxDbi | Q9NQG6 |
PeptideAtlasi | Q9NQG6 |
PRIDEi | Q9NQG6 |
ProteomicsDBi | 68833 82149 [Q9NQG6-1] |
PTM databases
iPTMneti | Q9NQG6 |
PhosphoSitePlusi | Q9NQG6 |
Expressioni
Tissue specificityi
Expression is relatively high in heart, skeletal muscle, pancreas and kidney.1 Publication
Gene expression databases
Bgeei | ENSG00000100335, Expressed in sperm and 242 other tissues |
ExpressionAtlasi | Q9NQG6, baseline and differential |
Genevisiblei | Q9NQG6, HS |
Organism-specific databases
HPAi | ENSG00000100335, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
Interacts with DNM1L.
3 PublicationsBinary interactionsi
Hide detailsQ9NQG6
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 119977, 36 interactors |
IntActi | Q9NQG6, 35 interactors |
MINTi | Q9NQG6 |
STRINGi | 9606.ENSP00000327124 |
Miscellaneous databases
RNActi | Q9NQG6, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9NQG6 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 49 – 195 | DimerizationAdd BLAST | 147 | |
Regioni | 160 – 169 | Important for interaction with DNM1L | 10 | |
Regioni | 234 – 242 | Important for interaction with DNM1L | 9 |
Sequence similaritiesi
Belongs to the SMCR7 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4542, Eukaryota |
GeneTreei | ENSGT00390000013127 |
HOGENOMi | CLU_1758184_0_0_1 |
InParanoidi | Q9NQG6 |
OrthoDBi | 515815at2759 |
PhylomeDBi | Q9NQG6 |
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 and alternative initiation. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9NQG6-1) [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
MAGAGERKGK KDDNGIGTAI DFVLSNARLV LGVGGAAMLG IATLAVKRMY
60 70 80 90 100
DRAISAPTSP TRLSHSGKRS WEEPNWMGSP RLLNRDMKTG LSRSLQTLPT
110 120 130 140 150
DSSTFDTDTF CPPRPKPVAR KGQVDLKKSR LRMSLQEKLL TYYRNRAAIP
160 170 180 190 200
AGEQARAKQA AVDICAELRS FLRAKLPDMP LRDMYLSGSL YDDLQVVTAD
210 220 230 240 250
HIQLIVPLVL EQNLWSCIPG EDTIMNVPGF FLVRRENPEY FPRGSSYWDR
260 270 280 290 300
CVVGGYLSPK TVADTFEKVV AGSINWPAIG SLLDYVIRPA PPPEALTLEV
310 320 330 340 350
QYERDKHLFI DFLPSVTLGD TVLVAKPHRL AQYDNLWRLS LRPAETARLR
360 370 380 390 400
ALDQADSGCR SLCLKILKAI CKSTPALGHL TASQLTNVIL HLAQEEADWS
410 420 430 440 450
PDMLADRFLQ ALRGLISYLE AGVLPSALNP KVNLFAELTP EEIDELGYTL
460
YCSLSEPEVL LQT
Isoform 3 (identifier: L0R8F8-1) [UniParc]FASTAAdd to basket
Also known as: uORF1 Publication, AltMIEF11 Publication
The sequence of this isoform can be found in the external entry L0R8F8.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB0QY95 | B0QY95_HUMAN | Mitochondrial dynamics protein MID5... | MIEF1 RP5-1104E15.5, hCG_41725 | 478 | Annotation score: | ||
B0QY94 | B0QY94_HUMAN | Mitochondrial dynamics protein MID5... | MIEF1 | 42 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037040 | 78 | G → R. Corresponds to variant dbSNP:rs2272830Ensembl. | 1 | |
Natural variantiVAR_037041 | 89 | T → M. Corresponds to variant dbSNP:rs17001213EnsemblClinVar. | 1 | |
Natural variantiVAR_037042 | 169 | R → W. Corresponds to variant dbSNP:rs2232088Ensembl. | 1 | |
Natural variantiVAR_037043 | 264 | D → N. Corresponds to variant dbSNP:rs2232091Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056383 | 108 – 148 | DTFCP…RNRAA → GETSYLLPEPGSHPCWRAGS GQASCCGHMCRAPELPAGQV A in isoform 2. 2 PublicationsAdd BLAST | 41 | |
Alternative sequenceiVSP_056384 | 149 – 463 | Missing in isoform 2. 2 PublicationsAdd BLAST | 315 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL365515 mRNA Translation: CAB97211.1 AK290954 mRNA Translation: BAF83643.1 AL834205 mRNA Translation: CAD38892.2 AL022312 Genomic DNA No translation available. CH471095 Genomic DNA Translation: EAW60335.1 BC002587 mRNA Translation: AAH02587.2 BC008327 mRNA Translation: AAH08327.1 |
CCDSi | CCDS13995.1 [Q9NQG6-1] |
RefSeqi | NP_001291493.1, NM_001304564.1 NP_061881.2, NM_019008.5 [Q9NQG6-1] XP_011528538.1, XM_011530236.1 [Q9NQG6-1] XP_011528539.1, XM_011530237.1 [Q9NQG6-1] XP_011528540.1, XM_011530238.1 [Q9NQG6-1] XP_016884327.1, XM_017028838.1 [Q9NQG6-1] |
Genome annotation databases
Ensembli | ENST00000325301; ENSP00000327124; ENSG00000100335 [Q9NQG6-1] ENST00000404569; ENSP00000385191; ENSG00000100335 [Q9NQG6-1] ENST00000428069; ENSP00000413730; ENSG00000100335 [Q9NQG6-2] ENST00000433117; ENSP00000404096; ENSG00000100335 [Q9NQG6-2] |
GeneIDi | 54471 |
KEGGi | hsa:54471 |
UCSCi | uc003axx.4, human [Q9NQG6-1] |
Keywords - Coding sequence diversityi
Alternative initiation, Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL365515 mRNA Translation: CAB97211.1 AK290954 mRNA Translation: BAF83643.1 AL834205 mRNA Translation: CAD38892.2 AL022312 Genomic DNA No translation available. CH471095 Genomic DNA Translation: EAW60335.1 BC002587 mRNA Translation: AAH02587.2 BC008327 mRNA Translation: AAH08327.1 |
CCDSi | CCDS13995.1 [Q9NQG6-1] |
RefSeqi | NP_001291493.1, NM_001304564.1 NP_061881.2, NM_019008.5 [Q9NQG6-1] XP_011528538.1, XM_011530236.1 [Q9NQG6-1] XP_011528539.1, XM_011530237.1 [Q9NQG6-1] XP_011528540.1, XM_011530238.1 [Q9NQG6-1] XP_016884327.1, XM_017028838.1 [Q9NQG6-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4NXT | X-ray | 2.12 | A/B/C/D | 119-463 | [»] | |
4NXU | X-ray | 2.30 | A/B/C/D | 119-463 | [»] | |
4NXV | X-ray | 2.30 | A/B/C/D | 119-463 | [»] | |
4NXW | X-ray | 2.55 | A | 119-463 | [»] | |
4NXX | X-ray | 2.55 | A | 119-463 | [»] | |
5X9B | X-ray | 2.70 | A | 133-463 | [»] | |
5X9C | X-ray | 1.85 | A/B | 133-463 | [»] | |
SMRi | Q9NQG6 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119977, 36 interactors |
IntActi | Q9NQG6, 35 interactors |
MINTi | Q9NQG6 |
STRINGi | 9606.ENSP00000327124 |
PTM databases
iPTMneti | Q9NQG6 |
PhosphoSitePlusi | Q9NQG6 |
Genetic variation databases
BioMutai | MIEF1 |
DMDMi | 74752902 |
Proteomic databases
EPDi | Q9NQG6 |
jPOSTi | Q9NQG6 |
MassIVEi | Q9NQG6 |
MaxQBi | Q9NQG6 |
PaxDbi | Q9NQG6 |
PeptideAtlasi | Q9NQG6 |
PRIDEi | Q9NQG6 |
ProteomicsDBi | 68833 82149 [Q9NQG6-1] |
Protocols and materials databases
Antibodypediai | 26626, 141 antibodies |
DNASUi | 54471 |
Genome annotation databases
Ensembli | ENST00000325301; ENSP00000327124; ENSG00000100335 [Q9NQG6-1] ENST00000404569; ENSP00000385191; ENSG00000100335 [Q9NQG6-1] ENST00000428069; ENSP00000413730; ENSG00000100335 [Q9NQG6-2] ENST00000433117; ENSP00000404096; ENSG00000100335 [Q9NQG6-2] |
GeneIDi | 54471 |
KEGGi | hsa:54471 |
UCSCi | uc003axx.4, human [Q9NQG6-1] |
Organism-specific databases
CTDi | 54471 |
DisGeNETi | 54471 |
GeneCardsi | MIEF1 |
HGNCi | HGNC:25979, MIEF1 |
HPAi | ENSG00000100335, Low tissue specificity |
MIMi | 615497, gene |
neXtProti | NX_Q9NQG6 |
OpenTargetsi | ENSG00000100335 |
PharmGKBi | PA145148068 |
VEuPathDBi | HostDB:ENSG00000100335.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4542, Eukaryota |
GeneTreei | ENSGT00390000013127 |
HOGENOMi | CLU_1758184_0_0_1 |
InParanoidi | Q9NQG6 |
OrthoDBi | 515815at2759 |
PhylomeDBi | Q9NQG6 |
TreeFami | TF331032 |
Enzyme and pathway databases
PathwayCommonsi | Q9NQG6 |
Miscellaneous databases
BioGRID-ORCSi | 54471, 9 hits in 861 CRISPR screens |
ChiTaRSi | MIEF1, human |
GeneWikii | SMCR7L |
GenomeRNAii | 54471 |
Pharosi | Q9NQG6, Tbio |
PROi | PR:Q9NQG6 |
RNActi | Q9NQG6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100335, Expressed in sperm and 242 other tissues |
ExpressionAtlasi | Q9NQG6, baseline and differential |
Genevisiblei | Q9NQG6, 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 | MID51_HUMAN | |
Accessioni | Q9NQG6Primary (citable) accession number: Q9NQG6 Secondary accession number(s): Q7L890, Q9BUI3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 13, 2007 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 145 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 variants curated from literature reports
Index of human variants curated from literature reports - 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 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants