Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64756
Gene name Gene Name - the full gene name approved by the HGNC.
ATP synthase mitochondrial F1 complex assembly factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATPAF1
Synonyms (NCBI Gene) Gene synonyms aliases
ATP11, ATP11p
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. A
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020867 hsa-miR-155-5p Proteomics 18668040
MIRT728248 hsa-miR-19a-3p HITS-CLIP 22473208
MIRT728249 hsa-miR-19b-3p HITS-CLIP 22473208
MIRT810166 hsa-let-7a CLIP-seq
MIRT810167 hsa-let-7b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11410595
GO:0005739 Component Mitochondrion IBA 21873635
GO:0033615 Process Mitochondrial proton-transporting ATP synthase complex assembly IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608917 18803 ENSG00000123472
Protein
UniProt ID Q5TC12
Protein name ATP synthase mitochondrial F1 complex assembly factor 1 (ATP11 homolog)
Protein function Has a complex stabilizing activity in the assembly of the mitochondrial F1-F0 complex.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06644 ATP11 65 307 ATP11 protein Family
Tissue specificity TISSUE SPECIFICITY: Weakly expressed in muscle. {ECO:0000269|PubMed:12965202}.
Sequence
Sequence length 328
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
20882379
Unknown
Disease term Disease name Evidence References Source
Asthma Childhood asthma 21696813 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 21696813
Status Asthmaticus Associate 21696813
Stomach Neoplasms Associate 38088732