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UniProtKB - Q96C03 (MID49_HUMAN)

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Protein

Mitochondrial dynamics protein MID49

Gene

MIEF2

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.4 Publications

Miscellaneous

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

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
View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000177427.12
HGNCiHGNC:17920 MIEF2
MIMi615498 gene
neXtProtiNX_Q96C03

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 – 22Mitochondrial intermembraneSequence analysisAdd BLAST22
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Topological domaini44 – 454CytoplasmicSequence analysisAdd BLAST411

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

PaxDbiQ96C03
PeptideAtlasiQ96C03
PRIDEiQ96C03
ProteomicsDBi76139
76140 [Q96C03-2]

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

Show more details

Protein-protein interaction databases

BioGridi125921, 6 interactors
IntActiQ96C03, 25 interactors
MINTiQ96C03
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
OMAiLCLTFQE
OrthoDBiEOG091G079I
PhylomeDBiQ96C03
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. 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 dbSNP:rs12603700Ensembl.1
Natural variantiVAR_037039354R → Q. Corresponds to variant dbSNP:rs3751981Ensembl.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]
ENST00000640122; ENSP00000491181; ENSG00000284495 [Q96C03-1]
ENST00000640339; ENSP00000492195; ENSG00000284495 [Q96C03-3]
ENST00000640637; ENSP00000490984; ENSG00000284495 [Q96C03-2]
GeneIDi125170
KEGGihsa:125170
UCSCiuc002gst.4 human [Q96C03-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMID49_HUMAN
AccessioniPrimary (citable) accession number: Q96C03
Secondary accession number(s): J3KPT3, Q6ZRD4, Q96N07
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: December 1, 2001
Last modified: July 18, 2018
This is version 115 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

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

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