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Details on Person UniProt:Q7L592 NDUFAF7
| Class:Id | ReferenceGeneProduct:221487 |
|---|---|
| _chainChangeLog | transit peptide:1-46 added on Fri February 6 2015;chain:47-441 added on Fri February 6 2015 |
| _displayName | UniProt:Q7L592 NDUFAF7 |
| _timestamp | 2025-02-21 19:09:45 |
| chain | transit peptide:1-46 chain:47-441 |
| checksum | 9F3D667CCE470623 |
| comment | FUNCTION Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).CATALYTIC ACTIVITY L-arginyl-[protein] + 2 S-adenosyl-L-methionine = N(omega),N(omega)'-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine + 2 H(+)SUBUNIT Interacts with NDUFS2 (PubMed:20406883, PubMed:24089531).INTERACTION Defects in NDUFAF7 may be a cause of susceptibility to pathologic myopia, a genetically heterogeneous disorder characterized by extreme, familial, early-onset vision loss and described as myopia accompanied by severe deformation of the eye besides excessive elongation of the eye.SIMILARITY Belongs to the NDUFAF7 family.CAUTION Stoichiometry of the protein is unclear. According to a report, it forms a homodimer (PubMed:20406883). According to another publication, it is mainly monomeric (PubMed:24838397). |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="8"Protein arginine methyltransferase NDUFAF7, mitochondrial ecNumber evidence="3"2.1.1.320 alternativeName: NADH dehydrogenase [ubiquinone] complex I, assembly factor 7 alternativeName: fullName evidence="7"Protein midA homolog |
| geneName | NDUFAF7 C2orf56 PRO1853 |
| identifier | Q7L592 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Methyltransferase Mitochondrion Proteomics identification Reference proteome Transferase Transit peptide |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | NDUFAF7 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8997849] ENSEMBL:ENSG00000003509 NDUFAF7 [Homo sapiens] |
| secondaryIdentifier | NDUF7_HUMAN Q7Z399 Q9P1G3 |
| sequenceLength | 441 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:221488] UniProt:Q7L592-2 NDUFAF7 [Homo sapiens] [ReferenceIsoform:409254] UniProt:Q7L592-1 NDUFAF7 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:5689125] NDUFAF7 [mitochondrial inner membrane] [Homo sapiens] [EntityWithAccessionedSequence:6788525] NDUFAF7 [mitochondrial matrix] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q7L592 NDUFAF7 (221487)
