NDUFAF7

Protein identityUniProt · HPA

UniProt accession

Q7L592

Gene

NDUFAF7

Ensembl

ENSG00000003509

Chromosome

2

Canonical length

441 aa

Protein class

Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

441 residues, UniProt reviewed canonical sequence.

>Q7L592|NDUFAF7
     1  MSVLLRSGLG PLCAVARAAI PFIWRGKYFS SGNEPAENPV TPMLRHLMYK IKSTGPITVA
    61  EYMKEVLTNP AKGYYVYRDM LGEKGDFITS PEISQIFGEL LGIWFISEWM ATGKSTAFQL
   121  VELGPGRGTL VGDILRVFTQ LGSVLKNCDI SVHLVEVSQK LSEIQALTLT KEKVPLERNA
   181  GSPVYMKGVT KSGIPISWYR DLHDVPKGYS FYLAHEFFDV LPVHKFQKTP QGWREVFVDI
   241  DPQVSDKLRF VLAPSATPAE AFIQHDETRD HVEVCPDAGV IIEELSQRIA LTGGAALVAD
   301  YGHDGTKTDT FRGFCDHKLH DVLIAPGTAD LTADVDFSYL RRMAQGKVAS LGPIKQHTFL
   361  KNMGIDVRLK VLLDKSNEPS VRQQLLQGYD MLMNPKKMGE RFNFFALLPH QRLQGGRYQR
   421  NARQSKPFAS VVAGFSELAW Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFAF7 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

36 nTPM

Expression across tissuesHPA

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)

1.58

gnomAD pLI

0

gnomAD missense Z

-1.05

DepMap mean gene effect

-0.27

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial respiratory chain complex I assembly
• peptidyl-arginine methylation, to symmetrical-dimethyl arginine

Molecular functions

• enzyme binding
• methyltransferase activity
• protein-arginine omega-N symmetric methyltransferase activity

Cellular components

• extracellular space
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• S-adenosyl-L-methionine-dependent methyltransferase superfamily
• Protein arginine methyltransferase NDUFAF7
• Protein arginine methyltransferase NDUFAF7 superfamily
• Putative S-adenosyl-L-methionine-dependent methyltransferase

KeywordsUniProt

• Methyltransferase
• Mitochondrion
• Transferase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of NDUFAF7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NDUFS2
• LRRK2