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ATPAF1 (ATP synthase mitochondrial F1 complex assembly factor 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64756
Gene nameGene Name - the full gene name approved by the HGNC.
ATP synthase mitochondrial F1 complex assembly factor 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ATPAF1
SynonymsGene synonyms aliases
ATP11, ATP11p
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p33
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 328
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Childhood asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 21696813
Obesity Obesity rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 20882379
Unknown
Disease name Disease term dbSNP ID References
Isolated atp synthase deficiency Isolated ATP synthase deficiency

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