AASDHPPT
| AASDHPPT | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | AASDHPPT, AASD-PPT, LYS2, LYS5, CGI-80, ACPS, aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607756; MGI: 1914868; GeneCards: AASDHPPT | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT) is an enzyme that in humans is encoded by the AASDHPPT gene.[5][6][7] It has been suggested that defects in the human gene result in pipecolic acidemia.[7]
The AASDHPPT protein catalyzes the post-translational modification phosphopantetheinylation, in which a 4'-phosphopantetheine (4'-PP) group derived from coenzyme A is covalently attached to target proteins in both cytosol and mitochondria.[8] In the cytosol, these include fatty acid synthase (FASN), aminoadipate semialdehyde dehydrogenase (AASDH), and aldehyde dehydrogenase 1 family member L1 (ALDH1L1), whereas in mitochondria the targets are the mitochondrial acyl carrier protein (mtACP), aldehyde dehydrogenase 1 family member L2 (ALDH1L2), and dehydrogenase/reductase 2 (DHRS2).[8] With the exception of DHRS2, the targets of AASDHPPT contain a acyl carrier protein (ACP) domain, a cofactor domain widespread across bacteria and eukaryotes with roles in the synthesis of fatty acids, polyketides, and nonribosomal peptides.[9]
The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate.
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000149313 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025894 – 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.
- ↑ Joshi AK, Zhang L, Rangan VS, Smith S (August 2003). "Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity". The Journal of Biological Chemistry. 278 (35): 33142–33149. doi:10.1074/jbc.M305459200. PMID 12815048.
- ↑ Praphanphoj V, Sacksteder KA, Gould SJ, Thomas GH, Geraghty MT (April 2001). "Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene". Molecular Genetics and Metabolism. 72 (4): 336–342. doi:10.1006/mgme.2000.3138. PMID 11286508.
- 1 2 "Entrez Gene: AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase".
- 1 2 Norden PR, Wedan RJ, Preston SE, Canfield M, Graber N, Longenecker JZ, et al. (2024-05-10). "Mitochondrial Phosphopantetheinylation is Required for Oxidative Function". bioRxiv 10.1101/2024.05.09.592977.
- ↑ "InterPro". InterPro.
Further reading
[edit]- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, et al. (October 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Research. 10 (10): 1546–1560. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
- Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, et al. (August 2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 97 (17): 9543–9548. Bibcode:2000PNAS...97.9543H. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
- Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (May 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research. 10 (5): 703–713. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
External links
[edit]- AASDHPPT human gene location in the UCSC Genome Browser.
- AASDHPPT human gene details in the UCSC Genome Browser.
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