Reactome: A Curated Pathway Database
THIS SITE IS USED FOR CURATION AND TESTING
IT IS NOT STABLE, IS LINKED TO AN INCOMPLETE DATA SET, AND IS NOT MONITORED FOR PERFORMANCE. WE STRONGLY RECOMMEND THE USE OF OUR PUBLIC SITE

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Name Email address

Details on Person UniProt:Q9Y375 NDUFAF1

Class:IdReferenceGeneProduct:52062
_chainChangeLogtransit peptide:1-24 added on Sat February 7 2015;chain:25-327 added on Sat February 7 2015
_displayNameUniProt:Q9Y375 NDUFAF1
_timestamp2026-02-20 22:20:03
chaintransit peptide:1-24
chain:25-327
checksum13D76605CC50DFF7
commentFUNCTION 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).
descriptionrecommendedName: fullName evidence="11"Complex I intermediate-associated protein 30, mitochondrial alternativeName: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1
geneNameNDUFAF1
CIA30
CGI-65
identifierQ9Y375
isSequenceChangedFALSE
keywordChaperone
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
nameNDUFAF1
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8989443] ENSEMBL:ENSG00000137806 NDUFAF1 [Homo sapiens]
secondaryIdentifierCIA30_HUMAN
Q9BVZ5
sequenceLength327
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)