Version 5.4
Homo sapiens Protein: ATPAF2
Summary
InnateDB Protein IDBP-480949.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATPAF2
Protein Name ATP synthase mitochondrial F1 complex assembly factor 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000417190
InnateDB Gene IDBG-33420 (ATPAF2)
Protein Structure
UniProt Annotation
Function May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). {ECO:0000269PubMed:11410595}.
Subcellular Localization Mitochondrion {ECO:0000305}.
Disease Associations Mitochondrial complex V deficiency, nuclear 1 (MC5DN1) [MIM:604273]: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. {ECO:0000269PubMed:14757859}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. {ECO:0000269PubMed:11410595}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0043461 proton-transporting ATP synthase complex assembly
Cellular Component
GO:0005739 mitochondrion
GO:0016607 nuclear speck
Protein Structure and Domains
PDB ID
InterPro IPR011419 ATP12, ATPase F1F0-assembly protein
PFAM PF07542
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N5M1
PhosphoSite PhosphoSite-Q8N5M1
TrEMBL C9J2Q2
UniProt Splice Variant
Entrez Gene 91647
UniGene Hs.528889
RefSeq NP_663729
HUGO HGNC:18802
OMIM 608918
CCDS CCDS32585
HPRD 10599
IMGT
EMBL AC087163 AK290257 AY203943 BC004114 BC032126 CH471196
GenPept AAH04114 AAH32126 AAP34466 BAF82946 EAW55680

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca