Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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64756 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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ATPAF1 |
SynonymsGene synonyms aliases
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ATP11, ATP11p |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p33 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
328 |
Interactions |
View interactions |
Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Isolated atp synthase deficiency |
Isolated ATP synthase deficiency |
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