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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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei187 – 1871ADP
Binding sitei189 – 1891ADP
Binding sitei201 – 2011ADP
Binding sitei340 – 3401ADP
Binding sitei342 – 3421ADP
Binding sitei368 – 3681ADP

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
Complete GO annotation...

Keywords - Ligandi

Nucleotide-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

HGNCiHGNC:25979. MIEF1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2323Mitochondrial intermembraneSequence analysisAdd
BLAST
Transmembranei24 – 4623HelicalSequence analysisAdd
BLAST
Topological domaini47 – 463417CytoplasmicSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi201 – 2011H → D: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with E-342; E-368 and E-372. 1 Publication
Mutagenesisi235 – 2351R → A: No effect on mitochondrial localization. Impairs DNM1L recruitment. 1 Publication
Mutagenesisi238 – 2425Missing : No effect on mitochondrial localization. Impairs DNM1L recruitment. 1 Publication
Mutagenesisi342 – 3421R → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-368 and E-372. 1 Publication
Mutagenesisi368 – 3681K → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-342 and E-372. 1 Publication
Mutagenesisi372 – 3721K → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-342 and E-368. 1 Publication

Organism-specific databases

PharmGKBiPA145148068.

Polymorphism and mutation databases

BioMutaiSMCR7L.
DMDMi74752902.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 463463Mitochondrial dynamics protein MID51PRO_0000310448Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei55 – 551PhosphoserineCombined sources
Modified residuei59 – 591PhosphoserineCombined sources
Modified residuei79 – 791PhosphoserineBy similarity
Modified residuei94 – 941PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NQG6.
MaxQBiQ9NQG6.
PaxDbiQ9NQG6.
PeptideAtlasiQ9NQG6.
PRIDEiQ9NQG6.

PTM databases

iPTMnetiQ9NQG6.
PhosphoSiteiQ9NQG6.

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

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi119977. 14 interactions.
IntActiQ9NQG6. 12 interactions.
MINTiMINT-1684034.
STRINGi9606.ENSP00000327124.

Structurei

Secondary structure

1
463
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi126 – 14520Combined sources
Helixi151 – 17525Combined sources
Beta strandi179 – 1813Combined sources
Beta strandi185 – 1884Combined sources
Turni189 – 1935Combined sources
Beta strandi201 – 2088Combined sources
Helixi212 – 2143Combined sources
Beta strandi215 – 2195Combined sources
Helixi220 – 2223Combined sources
Beta strandi223 – 2253Combined sources
Beta strandi230 – 2356Combined sources
Turni238 – 2403Combined sources
Helixi247 – 2515Combined sources
Helixi259 – 27113Combined sources
Helixi272 – 2743Combined sources
Helixi276 – 2838Combined sources
Beta strandi286 – 2894Combined sources
Beta strandi297 – 3037Combined sources
Beta strandi306 – 31813Combined sources
Beta strandi321 – 3244Combined sources
Helixi331 – 3333Combined sources
Beta strandi337 – 3393Combined sources
Helixi342 – 35413Combined sources
Turni355 – 3573Combined sources
Helixi360 – 37314Combined sources
Helixi375 – 3773Combined sources
Helixi382 – 39514Combined sources
Helixi401 – 4033Combined sources
Helixi404 – 42118Combined sources
Turni434 – 4374Combined sources
Helixi440 – 45112Combined sources
Helixi457 – 4604Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 125-461.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni49 – 195147DimerizationAdd
BLAST
Regioni160 – 16910Important for interaction with DNM1L
Regioni234 – 2429Important for interaction with DNM1L

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781G → R.
Corresponds to variant rs2272830 [ dbSNP | Ensembl ].
VAR_037040
Natural varianti89 – 891T → M.
Corresponds to variant rs17001213 [ dbSNP | Ensembl ].
VAR_037041
Natural varianti169 – 1691R → W.
Corresponds to variant rs2232088 [ dbSNP | Ensembl ].
VAR_037042
Natural varianti264 – 2641D → N.
Corresponds to variant rs2232091 [ dbSNP | Ensembl ].
VAR_037043

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei108 – 14841DTFCP…RNRAA → GETSYLLPEPGSHPCWRAGS GQASCCGHMCRAPELPAGQV A in isoform 2. 2 PublicationsVSP_056383Add
BLAST
Alternative sequencei149 – 463315Missing in isoform 2. 2 PublicationsVSP_056384Add
BLAST

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]
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]
UniGeneiHs.728085.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 125-461.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119977. 14 interactions.
IntActiQ9NQG6. 12 interactions.
MINTiMINT-1684034.
STRINGi9606.ENSP00000327124.

PTM databases

iPTMnetiQ9NQG6.
PhosphoSiteiQ9NQG6.

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.
PharmGKBiPA145148068.
GenAtlasiSearch...

Phylogenomic databases

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

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: September 7, 2016
This is version 115 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.