Protein-coding gene in the species Homo sapiens
ATPAF1 |
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Identifiers |
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Aliases | ATPAF1, ATP11, ATP11p, ATP synthase mitochondrial F1 complex assembly factor 1 |
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External IDs | OMIM: 608917; MGI: 2180560; HomoloGene: 41492; GeneCards: ATPAF1; OMA:ATPAF1 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 1 (human)[1] |
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| Band | 1p33 | Start | 46,632,737 bp[1] |
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End | 46,673,867 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 4 (mouse)[2] |
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| Band | 4|4 D1 | Start | 115,642,009 bp[2] |
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End | 115,679,852 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - myocardium of left ventricle
- cardiac muscle tissue of right atrium
- vastus lateralis muscle
- right adrenal cortex
- right ventricle
- apex of heart
- right auricle
- gastrocnemius muscle
- muscle of thigh
- caudate nucleus
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| Top expressed in | - facial motor nucleus
- muscle of thigh
- anterior horn of spinal cord
- right kidney
- medial geniculate nucleus
- substantia nigra
- spermatid
- superior frontal gyrus
- tail of embryo
- lateral geniculate nucleus
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | | Cellular component | | Biological process | - mitochondrial proton-transporting ATP synthase complex assembly
- protein-containing complex assembly
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_022745 NM_001042546 NM_001243728 NM_001256418 NM_001394565 |
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RefSeq (protein) | |
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NP_001036011 NP_001230657 NP_001243347 NP_073582 |
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Location (UCSC) | Chr 1: 46.63 – 46.67 Mb | Chr 4: 115.64 – 115.68 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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ATP synthase mitochondrial F1 complex assembly factor 1, also known as ATP11 homolog, is a protein that in humans is encoded by the ATPAF1 gene.[5][6]
Function
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. Alternatively spliced transcript variants have been identified, but the biological validity of some of these variants has not been determined.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000123472 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028710 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: ATP synthase mitochondrial F1 complex assembly factor 1".
- ^ Wang ZG, White PS, Ackerman SH (August 2001). "Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria". J. Biol. Chem. 276 (33): 30773–8. doi:10.1074/jbc.M104133200. PMID 11410595.
External links
Further reading
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ackerman SH (2002). "Atp11p and Atp12p are chaperones for F(1)-ATPase biogenesis in mitochondria". Biochim. Biophys. Acta. 1555 (1–3): 101–5. doi:10.1016/S0005-2728(02)00262-1. PMID 12206899.
- Picková A, Paul J, Petruzzella V, Houstek J (2003). "Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues". FEBS Lett. 551 (1–3): 42–6. doi:10.1016/S0014-5793(03)00890-1. PMID 12965202.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.