AASDHPPT

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase is an enzyme that in humans is encoded by the AASDHPPT gene.^[5][6][7]

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
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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. It has been suggested that defects in the human gene result in pipecolic acidemia.^[7]