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Details on Person UniProt:Q9Y375 NDUFAF1
| Class:Id | ReferenceGeneProduct:52062 |
|---|---|
| _chainChangeLog | transit peptide:1-24 added on Sat February 7 2015;chain:25-327 added on Sat February 7 2015 |
| _displayName | UniProt:Q9Y375 NDUFAF1 |
| _timestamp | 2026-02-20 22:20:03 |
| chain | transit peptide:1-24 chain:25-327 |
| checksum | 13D76605CC50DFF7 |
| comment | FUNCTION As part of the MCIA complex, involved in the assembly of the mitochondrial complex I.SUBUNIT Part of the mitochondrial complex I assembly/MCIA complex that comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 and complement subunits such as COA1 and TMEM186 (PubMed:32320651). Interacts with ECSIT (PubMed:17344420). Interacts with ACAD9 (PubMed:20816094). At early stages of complex I assembly, it is found in intermediate subcomplexes that contain different subunits including NDUFB6, NDUFA6, NDUFA9, NDUFS3, NDUFS7, ND1, ND2 and ND3 (PubMed:17557076). Interacts with TMEM70 and TMEM242 (PubMed:33753518).SUBCELLULAR LOCATION Peripherally associated with the matrix face of the mitochondrial inner membrane.TISSUE SPECIFICITY Ubiquitous.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the CIA30 family.CAUTION There is a putative pseudogene of CIA30 on chromosome 19 (19p12). |
| description | recommendedName: fullName evidence="11"Complex I intermediate-associated protein 30, mitochondrial alternativeName: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1 |
| geneName | NDUFAF1 CIA30 CGI-65 |
| identifier | Q9Y375 |
| isSequenceChanged | FALSE |
| keyword | Chaperone Disease variant Mitochondrion Phosphoprotein Primary mitochondrial disease Proteomics identification Reference proteome 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:9983091] Weiser, Joel, 2026-02-20 |
| name | NDUFAF1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989443] ENSEMBL:ENSG00000137806 NDUFAF1 [Homo sapiens] |
| secondaryIdentifier | CIA30_HUMAN Q9BVZ5 |
| sequenceLength | 327 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:5689050] NDUFAF1 [mitochondrial inner membrane] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9Y375 NDUFAF1 (52062)
