Homo sapiens Gene: AASDHPPT
Summary
InnateDB Gene IDBG-69833.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AASDHPPT
Gene Name aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000149313
Encoded Proteins
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:106075501-106098710
Strand Forward strand
Band q22.3
Transcripts
ENST00000278618 ENSP00000278618
ENST00000533423 ENSP00000437175
ENST00000524411 ENSP00000435099
ENST00000525660 ENSP00000437144
ENST00000534152
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 17 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000287 magnesium ion binding
GO:0005515 protein binding
GO:0008897 holo-[acyl-carrier-protein] synthase activity
Biological Process
GO:0006633 fatty acid biosynthetic process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0009059 macromolecule biosynthetic process
GO:0015939 pantothenate metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Vitamin B5 (pantothenate) metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Pantothenate and CoA biosynthesis pathway
INOH
Lysine degradation pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.524009 Hs.600300 Hs.622217
RefSeq NM_015423
HUGO
OMIM
CCDS CCDS31664
HPRD 09675
IMGT
EMBL
GenPept
RNA Seq Atlas