AASDHPPT

AASDHPPT
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2BYD, 2C43, 2CG5
Identifiers
Aliases	AASDHPPT , AASD-PPT, LYS2, LYS5, CGI-80, ACPS, aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
External IDs	OMIM: 607756; MGI: 1914868; HomoloGene: 9130; GeneCards: AASDHPPT; OMA:AASDHPPT - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q22.3 Start 106,075,501 bp [1] End 106,098,699 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 A1 Start 4,294,793 bp [2] End 4,309,471 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm Epithelium of choroid plexus frontal pole postcentral gyrus Brodmann area 23 superior frontal gyrus superior vestibular nucleus pons cerebellar vermis orbitofrontal cortex Top expressed in hand endocardial cushion atrioventricular valve Paneth cell spermatocyte abdominal wall left lobe of liver urothelium transitional epithelium of urinary bladder soleus muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity protein binding magnesium ion binding metal ion binding holo-[acyl-carrier-protein synthase activity] Cellular component cytoplasm cytosol extracellular exosome Biological process lysine biosynthetic process via aminoadipic acid pantothenate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 60496 67618 Ensembl ENSG00000149313 ENSMUSG00000025894 UniProt Q9NRN7 Q9CQF6 RefSeq (mRNA) NM_015423 NM_026276 NM_001326359 RefSeq (protein) NP_056238 NP_001313288 NP_080552 Location (UCSC) Chr 11: 106.08 – 106.1 Mb Chr 9: 4.29 – 4.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT) is an enzyme that in humans is encoded by the AASDHPPT gene. ^{[5] [6] [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] It has been suggested that defects in the human gene result in pipecolic acidemia. ^[7]

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

1. GRCh38: Ensembl release 89: ENSG00000149313 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025894 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Joshi AK, Zhang L, Rangan VS, Smith S (Aug 2003). "Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity". J Biol Chem. 278 (35): 33142–9. doi: 10.1074/jbc.M305459200 . PMID   12815048.
6. Praphanphoj V, Sacksteder KA, Gould SJ, Thomas GH, Geraghty MT (Apr 2001). "Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene". Mol Genet Metab. 72 (4): 336–42. doi:10.1006/mgme.2000.3138. PMID   11286508.
7. "Entrez Gene: AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase".
8. Norden PR, Wedan RJ, Preston SE, Canfield M, Graber N, Longenecker JZ, Pentecost OA, McLaughlin E, Hart ML (2024-05-10). "Mitochondrial Phosphopantetheinylation is Required for Oxidative Function". bioRxiv   10.1101/2024.05.09.592977 .

Further reading

• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Mammalian Gene Collection Program Team, 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". Proceedings of the National Academy of Sciences . 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC   310934 . PMID   11042152.
• Hu RM, Han ZG, Song HD, et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543–8. Bibcode:2000PNAS...97.9543H. doi: 10.1073/pnas.160270997 . PMC   16901 . PMID   10931946.
• Lai CH, Chou CY, Ch'ang LY, et al. (2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Res. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC   310876 . PMID   10810093.

External links

• AASDHPPT human gene location in the UCSC Genome Browser .
• AASDHPPT human gene details in the UCSC Genome Browser .