ATPAF2

Protein identityUniProt · HPA

UniProt accession

Q8N5M1

Gene

ATPAF2

Ensembl

ENSG00000171953

Chromosome

17

Canonical length

289 aa

Protein class

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

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

289 residues, UniProt reviewed canonical sequence.

>Q8N5M1|ATPAF2
     1  MWRSCLRLRD GGRRLLNRPA GGPSASMSPG PTIPSPARAY APPTERKRFY QNVSITQGEG
    61  GFEINLDHRK LKTPQAKLFT VPSEALAIAV ATEWDSQQDT IKYYTMHLTT LCNTSLDNPT
   121  QRNKDQLIRA AVKFLDTDTI CYRVEEPETL VELQRNEWDP IIEWAEKRYG VEISSSTSIM
   181  GPSIPAKTRE VLVSHLASYN TWALQGIEFV AAQLKSMVLT LGLIDLRLTV EQAVLLSRLE
   241  EEYQIQKWGN IEWAHDYELQ ELRARTAAGT LFIHLCSEST TVKHKLLKE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATPAF2 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)

0.35

Highest tissue expression

26 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATPAF2.

Disease | AllUniProt

Conditions ATPAF2 is implicated in, by any mechanism.

• Mitochondrial complex V deficiency, nuclear type 1 (MC5DN1) MIM:604273

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 245 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

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)

1.44

gnomAD pLI

0

gnomAD missense Z

0.69

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial proton-transporting ATP synthase complex assembly
• proton-transporting ATP synthase complex assembly

Cellular components

• cytosol
• mitochondrial inner membrane
• mitochondrion
• nuclear speck

Protein domainsUniProt · Pfam · InterPro

• ATP12, ATP synthase F1-assembly protein
• ATP12 orthogonal Bundle domain superfamily
• ATP12, ATP synthase F1-assembly protein, N-terminal
• ATP12 chaperone protein

KeywordsUniProt

• Chaperone
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of ATPAF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP5F1B
• FMC1
• ATP5F1A
• SPG21