Gene Symbol |
MIEF1
|
Entrez Gene |
54471
|
Alt Symbol |
HSU79252, MID51, SMCR7L, dJ1104E15.3
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
mitochondrial elongation factor 1
|
Other Description |
SMCR7-like protein|Smith-Magenis syndrome chromosome region, candidate 7-like|mitochondrial dynamic protein MID51|mitochondrial dynamic protein of 51 kDa|mitochondrial dynamics protein MID51|mitochondrial dynamics protein of 51 kDa|smith-Magenis syndrome chromosomal region candidate gene 7 protein-like
|
Swissprots |
Q9NQG6 Q9BUI3 Q7L890
|
Accessions |
EAW60335 EAW60336 EAW60337 EAW60338 EAW60339 Q9NQG6 AF086364 AK000239 BAA91027 AK026539 AK290954 BAF83643 AL136768 CAB66702 AL365515 CAB97211 AL834205 CAD38892 AM393387 CAL38265 AM393673 CAL38549 AM393747 CAL38622 BC002587 AAH02587 BC002861 BC008327 AAH08327 BC009958 BC032530 BC047292 BC054037 BG419918 DA192893 XM_011530236 XP_011528538 XM_011530237 XP_011528539 XM_011530238 XP_011528540 NM_013298 NM_001304564 NP_001291493 NM_019008 NP_061881 NR_130789 NR_130790
|
Function |
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. {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:21701560, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:23921378, ECO:0000269|PubMed:24515348}.
|
Subcellular Location |
Mitochondrion outer membrane {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:21701560, ECO:0000269|PubMed:24515348}; Single-pass membrane protein {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:21701560, ECO:0000269|PubMed:24515348}.
|
Tissue Specificity |
Expression is relatively high in heart, skeletal muscle, pancreas and kidney. {ECO:0000269|PubMed:21701560}.
|