MIEF2
entrez
125170
canonical
uniprot
Q96C03
canonical
ensembl
ENSG00000177427
resolver
ensembl
ENSG00000284495
resolver
ensp
ENSP00000323591
resolver
ensp
ENSP00000379056
resolver
ensp
ENSP00000379057
resolver
genesymbol
MIEF2
resolver
genesymbol_syn
MID49
resolver
genesymbol_syn
SMCR7
resolver
hgnc
HGNC:17920
resolver
uniprot
J3KPT3
resolver
uniprot
Q6ZRD4
resolver
uniprot
Q96N07
resolver
uniprot_entry
MID49_HUMAN
resolver
uniprot_sec
J3KPT3
resolver
uniprot_sec
Q6ZRD4
resolver
uniprot_sec
Q96N07
resolver
amino_acid_sequence
MAEFSQKRGKRRSDEGLGSMVDFLLANARLVLGVGGAAVLGIATLAVKRFIDRATSPRDEDDTKADSWKELSLLKATPHLQPRPPPAALSQPVLPLAPSSSAPEGPAETDPEVTPQLSSPAPLCLTLQERLLAFERDRVTIPAAQVALAKQLAGDIALELQAYFRSKFPELPFGAFVPGGPLYDGLQAGAADHVRLLVPLVLEPGLWSLVPGVDTVARDPRCWAVRRTQLEFCPRGSSPWDRFLVGGYLSSRVLLELLRKALAASVNWPAIGSLLGCLIRPSMASEELLLEVQHERLELTVAVLVAVPGVDADDRLLLAWPLEGLAGNLWLQDLYPVEAARLRALDDHDAGTRRRLLLLLCAVCRGCSALGQLGRGHLTQVVLRLGEDNVDWTEEALGERFLQALELLIGSLEQASLPCHFNPSVNLFSSLREEEIDDIGYALYSGLQEPEGLL
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 49 (COXPD49) [MIM:619024]: An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes. {ECO:0000269|PubMed:29361167}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial outer membrane protein involved in the regulation of mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and 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. {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:23921378, ECO:0000269|PubMed:29361167, ECO:0000269|PubMed:29899447}.
uniprot
proteins
mass_dalton
49269
uniprot
proteins
mutagenesis
MUTAGEN 235; /note="R->E: Unable to associate with DNM1L into filaments forming the tubular structures that wrap around the scission site."; /evidence="ECO:0000269|PubMed:29899447
uniprot
proteins
protein_family
MID49/MID51 family
uniprot
proteins
pubmed
11997338
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21508961
uniprot
proteins
pubmed
23283981
uniprot
proteins
pubmed
23530241
uniprot
proteins
pubmed
23921378
uniprot
proteins
pubmed
29361167
uniprot
proteins
pubmed
29899447
uniprot
proteins
sequence_length
454
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:21508961}; Single-pass membrane protein {ECO:0000269|PubMed:21508961}. Note=Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria.
uniprot
proteins
transmembrane_region
TRANSMEM 23..43; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins