Entry - *608917 - ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 1; ATPAF1 - OMIM

 
 
* 608917

ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 1; ATPAF1


Alternative titles; symbols

ATP11, S. CEREVISIAE, HOMOLOG OF; ATP11


HGNC Approved Gene Symbol: ATPAF1

Cytogenetic location: 1p33     Genomic coordinates (GRCh38): 1:46,632,737-46,668,557 (from NCBI)


TEXT

▼ Cloning and Expression

In yeast, Atp11 is required for the proper assembly of the F1 component of the mitochondrial ATP synthase complex. By searching an EST database for sequences similar to yeast Atp11, followed by PCR and 5-prime RACE of a human fetal liver cDNA library, Wang et al. (2001) obtained a partial ATPAF1 cDNA. By database analysis they identified the complete transcript, which encodes a deduced 328-amino acid protein with an N-terminal mitochondrial targeting sequence. EST database analysis and SAGE data indicated that ATPAF1 is widely expressed at moderate abundance.


▼ Gene Function

Using yeast 2-hybrid analysis, Wang et al. (2001) found that ATPAF1 interacted directly with the ATP synthase F1 beta subunit (ATP5B; 102910), but not with the F1 alpha subunit (ATP5A1; 164360).


▼ Gene Structure

Wang et al. (2001) determined that the ATPAF1 gene contains 9 exons and spans at least 32.5 kb.


▼ Mapping

By genomic sequence analysis, Wang et al. (2001) mapped the ATPAF1 gene to chromosome 1p33-p32.2.


▼ REFERENCES

  1. Wang, Z.-G., White, P. S., Ackerman, S. H. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. J. Biol. Chem. 276: 30773-30778, 2001. [PubMed: 11410595, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 9/13/2004
Edit History:
mgross : 09/13/2004

* 608917

ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 1; ATPAF1


Alternative titles; symbols

ATP11, S. CEREVISIAE, HOMOLOG OF; ATP11


HGNC Approved Gene Symbol: ATPAF1

Cytogenetic location: 1p33     Genomic coordinates (GRCh38): 1:46,632,737-46,668,557 (from NCBI)


TEXT

Cloning and Expression

In yeast, Atp11 is required for the proper assembly of the F1 component of the mitochondrial ATP synthase complex. By searching an EST database for sequences similar to yeast Atp11, followed by PCR and 5-prime RACE of a human fetal liver cDNA library, Wang et al. (2001) obtained a partial ATPAF1 cDNA. By database analysis they identified the complete transcript, which encodes a deduced 328-amino acid protein with an N-terminal mitochondrial targeting sequence. EST database analysis and SAGE data indicated that ATPAF1 is widely expressed at moderate abundance.


Gene Function

Using yeast 2-hybrid analysis, Wang et al. (2001) found that ATPAF1 interacted directly with the ATP synthase F1 beta subunit (ATP5B; 102910), but not with the F1 alpha subunit (ATP5A1; 164360).


Gene Structure

Wang et al. (2001) determined that the ATPAF1 gene contains 9 exons and spans at least 32.5 kb.


Mapping

By genomic sequence analysis, Wang et al. (2001) mapped the ATPAF1 gene to chromosome 1p33-p32.2.


REFERENCES

  1. Wang, Z.-G., White, P. S., Ackerman, S. H. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. J. Biol. Chem. 276: 30773-30778, 2001. [PubMed: 11410595] [Full Text: https://doi.org/10.1074/jbc.M104133200]


Creation Date:
Patricia A. Hartz : 9/13/2004

Edit History:
mgross : 09/13/2004



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 11, 2024