NDUFAF5

Protein identityUniProt · HPA

UniProt accession

Q5TEU4

Gene

NDUFAF5

Ensembl

ENSG00000101247

Chromosome

20

Canonical length

345 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

345 residues, UniProt reviewed canonical sequence.

>Q5TEU4|NDUFAF5
     1  MLRPAGLWRL CRRPWAARVP AENLGRREVT SGVSPRGSTS PRTLNIFDRD LKRKQKNWAA
    61  RQPEPTKFDY LKEEVGSRIA DRVYDIPRNF PLALDLGCGR GYIAQYLNKE TIGKFFQADI
   121  AENALKNSSE TEIPTVSVLA DEEFLPFKEN TFDLVVSSLS LHWVNDLPRA LEQIHYILKP
   181  DGVFIGAMFG GDTLYELRCS LQLAETEREG GFSPHISPFT AVNDLGHLLG RAGFNTLTVD
   241  TDEIQVNYPG MFELMEDLQG MGESNCAWNR KALLHRDTML AAAAVYREMY RNEDGSVPAT
   301  YQIYYMIGWK YHESQARPAE RGSATVSFGE LGKINNLMPP GKKSQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFAF5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFAF5.

Disease | AllUniProt

Conditions NDUFAF5 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) MIM:618238

Disease | GeneticClinVar

119 pathogenic / likely-pathogenic of 591 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 16
• Mitochondrial complex I deficiency
• Leigh syndrome
• Inborn genetic diseases
• NDUFAF5-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.2

gnomAD pLI

0

gnomAD missense Z

0.15

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• methylation
• mitochondrial respiratory chain complex I assembly

Molecular functions

• monooxygenase activity
• S-adenosylmethionine-dependent methyltransferase activity

Cellular components

• matrix side of mitochondrial inner membrane
• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Methyltransferase type 11
• S-adenosyl-L-methionine-dependent methyltransferase superfamily
• Methyltransferase domain
• Malonyl-ACP O-Methyltransferase

KeywordsUniProt

• Leigh syndrome
• Membrane
• Methyltransferase
• Mitochondrion
• Mitochondrion inner membrane
• Oxidoreductase
• Primary mitochondrial disease
• Transferase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of NDUFAF5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFAF8
• NDUFS7
• PYURF