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Protein

Mitochondrial dynamics protein MID51

Gene

MIEF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.6 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei187ADP1
Binding sitei189ADP1
Binding sitei201ADP1
Binding sitei340ADP1
Binding sitei342ADP1
Binding sitei368ADP1

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

LigandNucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial dynamics protein MID51
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100335.12
HGNCiHGNC:25979 MIEF1
MIMi615497 gene
neXtProtiNX_Q9NQG6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 23Mitochondrial intermembraneSequence analysisAdd BLAST23
Transmembranei24 – 46HelicalSequence analysisAdd BLAST23
Topological domaini47 – 463CytoplasmicSequence analysisAdd BLAST417

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi201H → D: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with E-342; E-368 and E-372. 1 Publication1
Mutagenesisi235R → A: No effect on mitochondrial localization. Impairs DNM1L recruitment. 1 Publication1
Mutagenesisi238 – 242Missing : No effect on mitochondrial localization. Impairs DNM1L recruitment. 1 Publication5
Mutagenesisi342R → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-368 and E-372. 1 Publication1
Mutagenesisi368K → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-342 and E-372. 1 Publication1
Mutagenesisi372K → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-342 and E-368. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000100335
PharmGKBiPA145148068

Polymorphism and mutation databases

BioMutaiSMCR7L
DMDMi74752902

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003104481 – 463Mitochondrial dynamics protein MID51Add BLAST463

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei55PhosphoserineCombined sources1
Modified residuei59PhosphoserineCombined sources1
Modified residuei79PhosphoserineBy similarity1
Modified residuei94PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NQG6
MaxQBiQ9NQG6
PaxDbiQ9NQG6
PeptideAtlasiQ9NQG6
PRIDEiQ9NQG6
ProteomicsDBi82149

PTM databases

iPTMnetiQ9NQG6
PhosphoSitePlusiQ9NQG6

Expressioni

Tissue specificityi

Expression is relatively high in heart, skeletal muscle, pancreas and kidney.1 Publication

Gene expression databases

BgeeiENSG00000100335
CleanExiHS_SMCR7L
ExpressionAtlasiQ9NQG6 baseline and differential
GenevisibleiQ9NQG6 HS

Organism-specific databases

HPAiHPA061059

Interactioni

Subunit structurei

Homodimer. Interacts with DNM1L.3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi119977, 14 interactors
IntActiQ9NQG6, 18 interactors
MINTiQ9NQG6
STRINGi9606.ENSP00000327124

Structurei

Secondary structure

1463
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi135 – 145Combined sources11
Helixi151 – 175Combined sources25
Beta strandi179 – 181Combined sources3
Beta strandi185 – 188Combined sources4
Turni189 – 193Combined sources5
Beta strandi201 – 208Combined sources8
Turni212 – 214Combined sources3
Beta strandi215 – 219Combined sources5
Helixi220 – 222Combined sources3
Beta strandi223 – 225Combined sources3
Beta strandi230 – 235Combined sources6
Turni238 – 240Combined sources3
Helixi247 – 251Combined sources5
Helixi259 – 271Combined sources13
Helixi272 – 274Combined sources3
Helixi276 – 283Combined sources8
Beta strandi286 – 289Combined sources4
Beta strandi297 – 303Combined sources7
Beta strandi306 – 318Combined sources13
Beta strandi321 – 324Combined sources4
Helixi331 – 334Combined sources4
Beta strandi336 – 339Combined sources4
Helixi342 – 356Combined sources15
Helixi360 – 373Combined sources14
Helixi376 – 379Combined sources4
Helixi382 – 395Combined sources14
Helixi401 – 403Combined sources3
Helixi404 – 421Combined sources18
Beta strandi427 – 429Combined sources3
Turni434 – 437Combined sources4
Helixi440 – 453Combined sources14
Helixi457 – 461Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NXTX-ray2.12A/B/C/D119-463[»]
4NXUX-ray2.30A/B/C/D119-463[»]
4NXVX-ray2.30A/B/C/D119-463[»]
4NXWX-ray2.55A119-463[»]
4NXXX-ray2.55A119-463[»]
5X9BX-ray2.70A133-463[»]
5X9CX-ray1.85A/B133-463[»]
ProteinModelPortaliQ9NQG6
SMRiQ9NQG6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni49 – 195DimerizationAdd BLAST147
Regioni160 – 169Important for interaction with DNM1L10
Regioni234 – 242Important for interaction with DNM1L9

Sequence similaritiesi

Belongs to the SMCR7 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IK9T Eukaryota
ENOG41109RH LUCA
GeneTreeiENSGT00390000013127
HOGENOMiHOG000144636
HOVERGENiHBG054078
InParanoidiQ9NQG6
PhylomeDBiQ9NQG6
TreeFamiTF331032

Family and domain databases

InterProiView protein in InterPro
IPR024810 Mab-21_dom
PfamiView protein in Pfam
PF03281 Mab-21, 1 hit
SMARTiView protein in SMART
SM01265 Mab-21, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket

Isoform 1 (identifier: Q9NQG6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:463
Mass (Da):51,293
Last modified:October 1, 2000 - v1
Checksum:i0824AD44305C234D
GO
Isoform 2 (identifier: Q9NQG6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-148: DTFCPPRPKP...LLTYYRNRAA → GETSYLLPEP...APELPAGQVA
     149-463: Missing.

Show »
Length:148
Mass (Da):15,631
Checksum:i94EAF1D4BC5604E8
GO
Isoform 3 (identifier: L0R8F8-1) [UniParc]FASTAAdd to basket
Also known as: uORF1 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.
Note: Product of the upstream open reading frame of this bicistronic gene.1 Publication
Length:70
Mass (Da):8,445
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03704078G → R. Corresponds to variant dbSNP:rs2272830Ensembl.1
Natural variantiVAR_03704189T → M. Corresponds to variant dbSNP:rs17001213Ensembl.1
Natural variantiVAR_037042169R → W. Corresponds to variant dbSNP:rs2232088Ensembl.1
Natural variantiVAR_037043264D → N. Corresponds to variant dbSNP:rs2232091Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056383108 – 148DTFCP…RNRAA → GETSYLLPEPGSHPCWRAGS GQASCCGHMCRAPELPAGQV A in isoform 2. 2 PublicationsAdd BLAST41
Alternative sequenceiVSP_056384149 – 463Missing in isoform 2. 2 PublicationsAdd BLAST315

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
CCDSiCCDS13995.1 [Q9NQG6-1]
RefSeqiNP_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]
UniGeneiHs.728085

Genome annotation databases

EnsembliENST00000325301; ENSP00000327124; ENSG00000100335 [Q9NQG6-1]
ENST00000404569; ENSP00000385191; ENSG00000100335 [Q9NQG6-1]
ENST00000428069; ENSP00000413730; ENSG00000100335 [Q9NQG6-2]
ENST00000433117; ENSP00000404096; ENSG00000100335 [Q9NQG6-2]
GeneIDi54471
KEGGihsa:54471
UCSCiuc003axx.4 human [Q9NQG6-1]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMID51_HUMAN
AccessioniPrimary (citable) accession number: Q9NQG6
Secondary accession number(s): Q7L890, Q9BUI3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 128 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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