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Protein

Mitochondrial dynamics protein MID51

Gene

MIEF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • mitochondrial fission Source: UniProtKB
  • positive regulation of mitochondrial fission Source: UniProtKB
  • positive regulation of protein targeting to membrane Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:G66-32939-MONOMER.

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

HGNCiHGNC:25979. MIEF1.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial outer membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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.

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

WithEntry#Exp.IntActNotes
itself2EBI-740987,EBI-740987
AGTRAPQ6RW133EBI-740987,EBI-741181
DNM1LO004299EBI-740987,EBI-724571
FIS1Q9Y3D64EBI-740987,EBI-3385283
MAGEA1P433554EBI-740987,EBI-740978
UBQLN1Q9UMX0-23EBI-740987,EBI-10173939

Protein-protein interaction databases

BioGridi119977. 14 interactors.
IntActiQ9NQG6. 15 interactors.
MINTiMINT-1684034.
STRINGi9606.ENSP00000327124.

Structurei

Secondary structure

1463
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi126 – 145Combined sources20
Helixi151 – 175Combined sources25
Beta strandi179 – 181Combined sources3
Beta strandi185 – 188Combined sources4
Turni189 – 193Combined sources5
Beta strandi201 – 208Combined sources8
Helixi212 – 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 – 333Combined sources3
Beta strandi337 – 339Combined sources3
Helixi342 – 354Combined sources13
Turni355 – 357Combined sources3
Helixi360 – 373Combined sources14
Helixi375 – 377Combined sources3
Helixi382 – 395Combined sources14
Helixi401 – 403Combined sources3
Helixi404 – 421Combined sources18
Turni434 – 437Combined sources4
Helixi440 – 451Combined sources12
Helixi457 – 460Combined sources4

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[»]
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

InterProiIPR024810. Mab-21_dom.
[Graphical view]
PfamiPF03281. Mab-21. 1 hit.
[Graphical view]
SMARTiSM01265. Mab-21. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. 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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03704078G → R.Corresponds to variant rs2272830dbSNPEnsembl.1
Natural variantiVAR_03704189T → M.Corresponds to variant rs17001213dbSNPEnsembl.1
Natural variantiVAR_037042169R → W.Corresponds to variant rs2232088dbSNPEnsembl.1
Natural variantiVAR_037043264D → N.Corresponds to variant rs2232091dbSNPEnsembl.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. Translation: CAI19178.1.
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 splicing, Polymorphism

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. Translation: CAI19178.1.
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.

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[»]
ProteinModelPortaliQ9NQG6.
SMRiQ9NQG6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119977. 14 interactors.
IntActiQ9NQG6. 15 interactors.
MINTiMINT-1684034.
STRINGi9606.ENSP00000327124.

PTM databases

iPTMnetiQ9NQG6.
PhosphoSitePlusiQ9NQG6.

Polymorphism and mutation databases

BioMutaiSMCR7L.
DMDMi74752902.

Proteomic databases

EPDiQ9NQG6.
MaxQBiQ9NQG6.
PaxDbiQ9NQG6.
PeptideAtlasiQ9NQG6.
PRIDEiQ9NQG6.

Protocols and materials databases

DNASUi54471.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi54471.
GeneCardsiMIEF1.
H-InvDBHIX0016492.
HGNCiHGNC:25979. MIEF1.
HPAiHPA061059.
MIMi615497. gene.
neXtProtiNX_Q9NQG6.
OpenTargetsiENSG00000100335.
PharmGKBiPA145148068.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK9T. Eukaryota.
ENOG41109RH. LUCA.
GeneTreeiENSGT00390000013127.
HOGENOMiHOG000144636.
HOVERGENiHBG054078.
InParanoidiQ9NQG6.
PhylomeDBiQ9NQG6.
TreeFamiTF331032.

Enzyme and pathway databases

BioCyciZFISH:G66-32939-MONOMER.

Miscellaneous databases

GeneWikiiSMCR7L.
GenomeRNAii54471.
PROiQ9NQG6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100335.
CleanExiHS_SMCR7L.
ExpressionAtlasiQ9NQG6. baseline and differential.
GenevisibleiQ9NQG6. HS.

Family and domain databases

InterProiIPR024810. Mab-21_dom.
[Graphical view]
PfamiPF03281. Mab-21. 1 hit.
[Graphical view]
SMARTiSM01265. Mab-21. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMID51_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 118 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.