AASDHPPT
L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Also known as: AASD-PPT, ACPS, ADPPT_HUMAN, CGI-80, LYS5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NRN7
- Gene
- AASDHPPT
- Ensembl
- ENSG00000149313
- Chromosome
- 11
- Canonical length
- 309 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
OverviewNCBI Gene
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. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
309 residues, UniProt reviewed canonical sequence.
>Q9NRN7|AASDHPPT
1 MVFPAKRFCL VPSMEGVRWA FSCGTWLPSR AEWLLAVRSI QPEEKERIGQ FVFARDAKAA
61 MAGRLMIRKL VAEKLNIPWN HIRLQRTAKG KPVLAKDSSN PYPNFNFNIS HQGDYAVLAA
121 EPELQVGIDI MKTSFPGRGS IPEFFHIMKR KFTNKEWETI RSFKDEWTQL DMFYRNWALK
181 ESFIKAIGVG LGFELQRLEF DLSPLNLDIG QVYKETRLFL DGEEEKEWAF EESKIDEHHF
241 VAVALRKPDG SRHQDVPSQD DSKPTQRQFT ILNFNDLMSS AVPMTPEDPS FWDCFCFTEE
301 IPIRNGTKSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AASDHPPT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 48 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 48 nTPM
- hypothalamus: 38 nTPM
- cerebellum: 38 nTPM
- testis: 35 nTPM
- basal ganglia: 34 nTPM
- hippocampal formation: 33 nTPM
Single-cell type
- early spermatids: 450 nCPM
- late primary spermatocytes: 193 nCPM
- cytotrophoblasts: 95 nCPM
- migrating cytotrophoblasts: 82 nCPM
- cardiomyocytes: 80 nCPM
- extravillous trophoblasts: 78 nCPM
Immune cell
- basophil: 64 nTPM
- NK-cell: 32 nTPM
- T-reg: 31 nTPM
- MAIT T-cell: 29 nTPM
- non-classical monocyte: 28 nTPM
- intermediate monocyte: 28 nTPM
Brain region
- cerebral cortex: 54 nTPM
- hypothalamus: 51 nTPM
- white matter: 49 nTPM
- basal ganglia: 46 nTPM
- spinal cord: 45 nTPM
- hippocampal formation: 42 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.72
- gnomAD pLI
- 0.03
- gnomAD missense Z
- 0.46
- DepMap mean gene effect
- -0.29
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- 10-formyltetrahydrofolate catabolic process
- lysine biosynthetic process via aminoadipic acid
- pantothenate metabolic process
- protein maturation
Molecular functions
- magnesium ion binding
- holo-[acyl-carrier-protein] synthase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- 4'-phosphopantetheinyl transferase domain
- 4'-phosphopantetheinyl transferase domain superfamily
- Phosphopantetheinyl Transferase Superfamily
- 4'-phosphopantetheinyl transferase, N-terminal
- 4'-phosphopantetheinyl transferase superfamily
- 4'-phosphopantetheinyl transferase, N-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AASDHPPT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AASDHPPT as an antibody target. Whether an autoantibody or antibody against AASDHPPT could matter depends on whether native AASDHPPT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AASDHPPT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AASDHPPT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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