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Protein

Mitochondrial dynamics protein MID49

Gene

MIEF2

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.4 Publications

GO - Biological processi

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000177427-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial dynamics protein MID49
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:17920. MIEF2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 22Mitochondrial intermembraneSequence analysisAdd BLAST22
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Topological domaini44 – 454CytoplasmicSequence analysisAdd BLAST411

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

Organism-specific databases

OpenTargetsiENSG00000177427.
PharmGKBiPA38265.

Polymorphism and mutation databases

BioMutaiSMCR7.
DMDMi74731298.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003104451 – 454Mitochondrial dynamics protein MID49Add BLAST454

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei13PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96C03.
PaxDbiQ96C03.
PeptideAtlasiQ96C03.
PRIDEiQ96C03.

PTM databases

iPTMnetiQ96C03.
PhosphoSitePlusiQ96C03.

Expressioni

Tissue specificityi

Expressed in all tissues tested with highest expression in heart and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000177427.
CleanExiHS_SMCR7.
ExpressionAtlasiQ96C03. baseline and differential.
GenevisibleiQ96C03. HS.

Organism-specific databases

HPAiHPA042334.

Interactioni

Subunit structurei

Interacts with DNM1L.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AGTRAPQ6RW133EBI-750153,EBI-741181
DNM1LO004293EBI-750153,EBI-724571
RABAC1Q9UI143EBI-750153,EBI-712367
UBQLN1Q9UMX04EBI-750153,EBI-741480
UBQLN1Q9UMX0-23EBI-750153,EBI-10173939

Protein-protein interaction databases

BioGridi125921. 6 interactors.
IntActiQ96C03. 10 interactors.
MINTiMINT-2878566.
STRINGi9606.ENSP00000379057.

Structurei

3D structure databases

ProteinModelPortaliQ96C03.
SMRiQ96C03.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MID49/MID51 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IH9B. Eukaryota.
ENOG410XQTN. LUCA.
GeneTreeiENSGT00390000013127.
HOGENOMiHOG000038002.
HOVERGENiHBG054078.
InParanoidiQ96C03.
OMAiPLYDGLQ.
OrthoDBiEOG091G079I.
PhylomeDBiQ96C03.
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 (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96C03-1) [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
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
Length:454
Mass (Da):49,269
Last modified:December 1, 2001 - v1
Checksum:iCEE9A444C0F8BC04
GO
Isoform 2 (identifier: Q96C03-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     104-205: EGPAETDPEV...LLVPLVLEPG → GEAAGLRAGP...SLLGRAQDAA
     206-454: Missing.

Note: No experimental confirmation available.
Show »
Length:205
Mass (Da):20,559
Checksum:iAEBE5803EDD0C967
GO
Isoform 3 (identifier: Q96C03-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGLSPNLDRQTM

Note: No experimental confirmation available.
Show »
Length:465
Mass (Da):50,482
Checksum:i249469573760B777
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti249L → F in BAB71108 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037038324G → E.Corresponds to variant rs12603700dbSNPEnsembl.1
Natural variantiVAR_037039354R → Q.Corresponds to variant rs3751981dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0476501M → MGLSPNLDRQTM in isoform 3. Curated1
Alternative sequenceiVSP_029358104 – 205EGPAE…VLEPG → GEAAGLRAGPCDHPSSPGGF GQTAGWRHRPGAAGLLSEQV PGTALWGIRAWGAALRRAAG GGCGPCASPGATGAGAGPVE PGAGRGHCGEGPSLLGRAQD AA in isoform 2. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_029359206 – 454Missing in isoform 2. 1 PublicationAdd BLAST249

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.
CCDSiCCDS11193.1. [Q96C03-1]
CCDS45624.1. [Q96C03-3]
CCDS45625.1. [Q96C03-2]
RefSeqiNP_001138372.1. NM_001144900.1. [Q96C03-2]
NP_631901.2. NM_139162.3. [Q96C03-1]
NP_683684.2. NM_148886.1. [Q96C03-3]
UniGeneiHs.655555.

Genome annotation databases

EnsembliENST00000323019; ENSP00000323591; ENSG00000177427. [Q96C03-1]
ENST00000395704; ENSP00000379056; ENSG00000177427. [Q96C03-2]
ENST00000395706; ENSP00000379057; ENSG00000177427. [Q96C03-3]
GeneIDi125170.
KEGGihsa:125170.
UCSCiuc002gst.4. human. [Q96C03-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS11193.1. [Q96C03-1]
CCDS45624.1. [Q96C03-3]
CCDS45625.1. [Q96C03-2]
RefSeqiNP_001138372.1. NM_001144900.1. [Q96C03-2]
NP_631901.2. NM_139162.3. [Q96C03-1]
NP_683684.2. NM_148886.1. [Q96C03-3]
UniGeneiHs.655555.

3D structure databases

ProteinModelPortaliQ96C03.
SMRiQ96C03.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125921. 6 interactors.
IntActiQ96C03. 10 interactors.
MINTiMINT-2878566.
STRINGi9606.ENSP00000379057.

PTM databases

iPTMnetiQ96C03.
PhosphoSitePlusiQ96C03.

Polymorphism and mutation databases

BioMutaiSMCR7.
DMDMi74731298.

Proteomic databases

EPDiQ96C03.
PaxDbiQ96C03.
PeptideAtlasiQ96C03.
PRIDEiQ96C03.

Protocols and materials databases

DNASUi125170.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323019; ENSP00000323591; ENSG00000177427. [Q96C03-1]
ENST00000395704; ENSP00000379056; ENSG00000177427. [Q96C03-2]
ENST00000395706; ENSP00000379057; ENSG00000177427. [Q96C03-3]
GeneIDi125170.
KEGGihsa:125170.
UCSCiuc002gst.4. human. [Q96C03-1]

Organism-specific databases

CTDi125170.
GeneCardsiMIEF2.
HGNCiHGNC:17920. MIEF2.
HPAiHPA042334.
MIMi615498. gene.
neXtProtiNX_Q96C03.
OpenTargetsiENSG00000177427.
PharmGKBiPA38265.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH9B. Eukaryota.
ENOG410XQTN. LUCA.
GeneTreeiENSGT00390000013127.
HOGENOMiHOG000038002.
HOVERGENiHBG054078.
InParanoidiQ96C03.
OMAiPLYDGLQ.
OrthoDBiEOG091G079I.
PhylomeDBiQ96C03.
TreeFamiTF331032.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000177427-MONOMER.

Miscellaneous databases

GenomeRNAii125170.
PROiQ96C03.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177427.
CleanExiHS_SMCR7.
ExpressionAtlasiQ96C03. baseline and differential.
GenevisibleiQ96C03. 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 nameiMID49_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 106 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

Miscellaneous

Does not bind ADP or other nucleotides, in contrast to MIEF1.By similarity

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. 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.