Reactome | UniProt:Q9NQG6 MIEF1

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UniProt:Q9NQG6 MIEF1 Show undefined attributes

chain	chain:1-463
checksum	0824AD44305C234D
comment	FUNCTION Mitochondrial outer membrane protein which regulates mitochondrial fission/fusion dynamics (PubMed:21701560, PubMed:23921378, PubMed:33632269). 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.SUBUNIT Homodimer. Interacts with DNM1L.INTERACTION Expression is relatively high in heart, skeletal muscle, pancreas and kidney.DISEASE The disease may be caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the SMCR7 family.CAUTION Was submitted as a Xenopus tropicalis sequence in INSDC entry BC090137. However, this sequence appears to be from human.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:12394716] RefSeq:NP_061881.2 [DatabaseIdentifier:12394717] RefSeq:NP_001291493.1 [DatabaseIdentifier:12294701] Pharos - Targets:Q9NQG6 [DatabaseIdentifier:12278335] PRO:Q9NQG6 [DatabaseIdentifier:12235014] PDB:5X9B [DatabaseIdentifier:12235015] PDB:4NXT [DatabaseIdentifier:12235012] PDB:4NXX [DatabaseIdentifier:12235011] PDB:4NXW [DatabaseIdentifier:12235013] PDB:5X9C [DatabaseIdentifier:12235016] PDB:4NXU [DatabaseIdentifier:12235010] PDB:4NXV [DatabaseIdentifier:12129642] OpenTargets:ENSG00000100335 [DatabaseIdentifier:11849840] HPA:ENSG00000100335-MIEF1 [DatabaseIdentifier:11792008] GeneCards:MIEF1 [DatabaseIdentifier:11709914] ENSEMBL:ENST00000404569 [DatabaseIdentifier:11709915] ENSEMBL:ENST00000433117 [DatabaseIdentifier:11709916] ENSEMBL:ENST00000325301 [DatabaseIdentifier:11709917] ENSEMBL:ENST00000428069 [DatabaseIdentifier:11587215] ENSEMBL:ENSP00000404096 [DatabaseIdentifier:11587217] ENSEMBL:ENSP00000413730 [DatabaseIdentifier:11587218] ENSEMBL:ENSP00000385191 [DatabaseIdentifier:11587216] ENSEMBL:ENSP00000327124 [DatabaseIdentifier:11484545] ENSEMBL:ENSG00000100335
databaseName	UniProt
dbId	248593
description	recommendedName: fullName evidence="19"Mitochondrial dynamics protein MIEF1 alternativeName: Mitochondrial dynamics protein of 51 kDa alternativeName: fullName evidence="20"Mitochondrial elongation factor 1 alternativeName: Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like shortName: SMCR7-like protein
displayName	UniProt:Q9NQG6 MIEF1
geneName	MIEF1 MID51 SMCR7L
identifier	Q9NQG6
isSequenceChanged	false
keyword	3D-structure Alternative initiation Alternative splicing Membrane Mitochondrion Mitochondrion outer membrane Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome Transmembrane Transmembrane helix
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	MIEF1
otherIdentifier	11719786_at 11757842_s_at 11757944_s_at 16930271 16930299 204593_PM_s_at 204593_s_at 204594_PM_s_at 204594_s_at 221516_PM_s_at 221516_s_at 224319_PM_s_at 224319_s_at 2558177 3349635 3349636 3349639 3771453 3771457 3771459 3945878 3945879 3945880 3945881 3945882 3945883 3945884 3945885 3945886 3945887 3945888 3945889 3945890 3945891 3945892 3945893 3945894 3945895 3945896 3945897 3945898 3945899 3945900 3945901 3945902 3945903 3945904 3945905 3945906 3945907 3945908 3945909 3945910 3945911 3945913 3945915 3945916 3945917 3945918 3945919 3945920 3945921 3945922 3945923 3945924 3945925 3945926 3945927 3945928 3945929 3996611 3996613 4027529 4027531 41236_at 48649_at 54471 8073135 8073148 8180337 87342_at A_14_P100911 A_14_P112631 A_14_P120043 A_14_P121940 A_23_P103131 A_23_P109547 A_23_P120941 A_24_P333484 A_33_P3238074 GE55412 GE61539 GO:0000166 GO:0000266 GO:0005515 GO:0005739 GO:0005741 GO:0007005 GO:0010636 GO:0016020 GO:0019003 GO:0042802 GO:0043531 GO:0090141 GO:0090314 HMNXSV003055266 Hs.240062.0.S1_3p_a_at ILMN_1783394 ILMN_1793203 PH_hs_0026571 PH_hs_0027945 TC22000316.hg TC22000317.hg TC22001114.hg U79252_at g12053052_3p_a_at g12803520_3p_a_at g9558736_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-9937401] MIEF1 [mitochondrial matrix] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12695402] UCSC:Q9NQG6 MIEF1 [ReferenceDNASequence:12118711] OMIM:615497 MIEF1 [ReferenceDNASequence:12063719] NCBI Gene:54471 MIEF1 [ReferenceDNASequence:11979626] Monarch:54471 MIEF1 [ReferenceDNASequence:11889693] KEGG:hsa:54471 MIEF1 [ReferenceDNASequence:11823686] HGNC:25979 MIDUO [ReferenceDNASequence:11429576] dbSNP Gene:54471 MIEF1 [ReferenceDNASequence:11426216] CTD Gene:54471 MIEF1 [ReferenceDNASequence:11393601] COSMIC - genes:MIEF1 MIEF1 [ReferenceDNASequence:11349837] BioGPS Gene:54471 MIEF1 [ReferenceDNASequence:ensembl:ENSG00000100335] ENSEMBL:ENSG00000100335 MIEF1
referenceTranscript	[ReferenceRNASequence:12576485] RefSeq:NM_001304564.1 MIEF1 [ReferenceRNASequence:12576484] RefSeq:NM_019008.5 MIEF1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	MID51_HUMAN Q52MA5 Q7L890 Q9BUI3
sequenceLength	463
species	[Species:48887] Homo sapiens
stId	uniprot:Q9NQG6
url	http://purl.uniprot.org/uniprot/Q9NQG6

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[EntityWithAccessionedSequence:R-HSA-9937401] MIEF1 [mitochondrial matrix]