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Aliases for AASDHPPT Gene

Aliases for AASDHPPT Gene

  • Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase 2 3
  • Alpha-Aminoadipic Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase 3 4
  • 4-Phosphopantetheinyl Transferase 3 4
  • LYS5 Ortholog 3 4
  • AASD-PPT 3 4
  • L-Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase 3
  • EC 2.7.8.- 4
  • EC 2.7.8 63
  • CGI-80 3
  • LYS2 3
  • LYS5 3

External Ids for AASDHPPT Gene

Previous GeneCards Identifiers for AASDHPPT Gene

  • GC11P108141
  • GC11P107304
  • GC11P105486
  • GC11P105453
  • GC11P101879
  • GC11P105946

Summaries for AASDHPPT Gene

Entrez Gene Summary for AASDHPPT 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]

GeneCards Summary for AASDHPPT Gene

AASDHPPT (Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase) is a Protein Coding gene. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include magnesium ion binding and holo-[acyl-carrier-protein] synthase activity.

UniProtKB/Swiss-Prot for AASDHPPT Gene

  • Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4-phosphopantetheine moiety from coenzyme A to a serine residue of a broad range of acceptors, such as the acyl carrier domain of FASN.

Gene Wiki entry for AASDHPPT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AASDHPPT Gene

Genomics for AASDHPPT Gene

Regulatory Elements for AASDHPPT Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AASDHPPT Gene

106,075,501 bp from pter
106,098,710 bp from pter
23,210 bases
Plus strand

Genomic View for AASDHPPT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AASDHPPT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AASDHPPT Gene

Proteins for AASDHPPT Gene

  • Protein details for AASDHPPT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
    Protein Accession:
    Secondary Accessions:
    • B2R6D1
    • B4DDW7
    • Q9C068
    • Q9P0Q3
    • Q9UG80
    • Q9Y389

    Protein attributes for AASDHPPT Gene

    309 amino acids
    Molecular mass:
    35776 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion.;
    Quaternary structure:
    • Monomer. Interacts with FASN.
    • Sequence=AAD34075.1; Type=Frameshift; Positions=34, 63; Evidence={ECO:0000305}; Sequence=AAF86879.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AASDHPPT Gene

    Alternative splice isoforms for AASDHPPT Gene


neXtProt entry for AASDHPPT Gene

Proteomics data for AASDHPPT Gene at MOPED

Selected DME Specific Peptides for AASDHPPT Gene

Post-translational modifications for AASDHPPT Gene

  • Ubiquitination at Lys164 and Lys263
  • Modification sites at PhosphoSitePlus

Other Protein References for AASDHPPT Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for AASDHPPT Gene

Protein Domains for AASDHPPT Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the P-Pant transferase superfamily. AcpS family.
  • Belongs to the P-Pant transferase superfamily. AcpS family.
genes like me logo Genes that share domains with AASDHPPT: view

No data available for Gene Families for AASDHPPT Gene

Function for AASDHPPT Gene

Molecular function for AASDHPPT Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.44 mM for magnesium {ECO:0000269 PubMed:18022563}; KM=0.025 mM for coenzyme A {ECO:0000269 PubMed:18022563};
UniProtKB/Swiss-Prot CatalyticActivity:
CoA-[4-phosphopantetheine] + apo-[acyl-carrier-protein] = adenosine 3,5-bisphosphate + holo-[acyl-carrier-protein]
UniProtKB/Swiss-Prot Function:
Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4-phosphopantetheine moiety from coenzyme A to a serine residue of a broad range of acceptors, such as the acyl carrier domain of FASN.

Enzyme Numbers (IUBMB) for AASDHPPT Gene

Gene Ontology (GO) - Molecular Function for AASDHPPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 18022563
GO:0005515 protein binding IPI 16189514
GO:0008897 holo-[acyl-carrier-protein] synthase activity IDA 18022563
genes like me logo Genes that share ontologies with AASDHPPT: view

Phenotypes for AASDHPPT Gene

GenomeRNAi human phenotypes for AASDHPPT:
genes like me logo Genes that share phenotypes with AASDHPPT: view

Animal Model Products

CRISPR Products


No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for AASDHPPT Gene

Localization for AASDHPPT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AASDHPPT Gene


Subcellular locations from

Jensen Localization Image for AASDHPPT Gene COMPARTMENTS Subcellular localization image for AASDHPPT gene
Compartment Confidence
cytosol 4
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for AASDHPPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with AASDHPPT: view

Pathways for AASDHPPT Gene

SuperPathways for AASDHPPT Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Disease
3 Metabolism
4 acyl carrier protein metabolism
5 Pantothenate and CoA biosynthesis
genes like me logo Genes that share pathways with AASDHPPT: view

Pathways by source for AASDHPPT Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for AASDHPPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process --
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0009059 macromolecule biosynthetic process --
GO:0015939 pantothenate metabolic process TAS --
genes like me logo Genes that share ontologies with AASDHPPT: view

Drugs for AASDHPPT Gene

(14) HMDB Compounds for AASDHPPT Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
Adenosine monophosphate
  • 5'-Adenosine monophosphate
Adenosine triphosphate
  • 5'-(Tetrahydrogen triphosphate) Adenosine
Aminoadipic acid
  • (+/-)-2-Aminoadipate
genes like me logo Genes that share compounds with AASDHPPT: view

Transcripts for AASDHPPT Gene

Unigene Clusters for AASDHPPT Gene

Aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AASDHPPT Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1: -
SP2: - -

Relevant External Links for AASDHPPT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AASDHPPT Gene

mRNA expression in normal human tissues for AASDHPPT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for AASDHPPT Gene

This gene is overexpressed in Lymph node (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AASDHPPT Gene

SOURCE GeneReport for Unigene cluster for AASDHPPT Gene Hs.524009

mRNA Expression by UniProt/SwissProt for AASDHPPT Gene

Tissue specificity: Detected in heart, skeletal muscle, placenta, testis, brain, pancreas, liver and kidney.
genes like me logo Genes that share expressions with AASDHPPT: view

Expression partners for AASDHPPT Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for AASDHPPT Gene

Orthologs for AASDHPPT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AASDHPPT Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AASDHPPT 35
  • 92.56 (n)
  • 93.2 (a)
-- 36
  • 92 (a)
  • 93 (a)
(Canis familiaris)
Mammalia AASDHPPT 35
  • 93.36 (n)
  • 96.62 (a)
  • 96 (a)
(Mus musculus)
Mammalia Aasdhppt 35
  • 87.49 (n)
  • 90.94 (a)
Aasdhppt 16
Aasdhppt 36
  • 91 (a)
(Pan troglodytes)
Mammalia AASDHPPT 35
  • 99.78 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Aasdhppt 35
  • 87.27 (n)
  • 90.61 (a)
(Monodelphis domestica)
Mammalia AASDHPPT 36
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia AASDHPPT 36
  • 59 (a)
(Gallus gallus)
  • 70.65 (n)
  • 63.82 (a)
  • 63 (a)
(Anolis carolinensis)
Reptilia AASDHPPT 36
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aasdhppt 35
  • 65 (n)
  • 61.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8486 35
(Danio rerio)
Actinopterygii aasdhppt 35
  • 59.14 (n)
  • 60.07 (a)
aasdhppt 36
  • 56 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3803 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007546 35
  • 46.23 (n)
  • 40.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta eap 35
  • 50.09 (n)
  • 40.74 (a)
eap 36
  • 32 (a)
(Caenorhabditis elegans)
Secernentea T04G9.4 35
  • 46.09 (n)
  • 36.36 (a)
T04G9.4 36
  • 29 (a)
T28H10.1 36
  • 29 (a)
(Oryza sativa)
Liliopsida Os11g0136500 35
  • 47.35 (n)
  • 41.59 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
Species with no ortholog for AASDHPPT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AASDHPPT Gene

Gene Tree for AASDHPPT (if available)
Gene Tree for AASDHPPT (if available)

Paralogs for AASDHPPT Gene

No data available for Paralogs for AASDHPPT Gene

Variants for AASDHPPT Gene

Sequence variations from dbSNP and Humsavar for AASDHPPT Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs7554 -- 106,098,374(+) CAAAA(A/G)TCTAT utr-variant-3-prime
rs1002629 -- 106,086,212(+) TCAGC(A/G)GGGCC intron-variant
rs1048683 -- 106,098,531(-) TAAAA(A/T)AAAAA utr-variant-3-prime
rs1893175 -- 106,094,489(+) ATATA(G/T)AGAGA intron-variant
rs1939799 -- 106,095,864(+) AATAC(C/T)TTTTG intron-variant

Relevant External Links for AASDHPPT Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AASDHPPT Gene

Disorders for AASDHPPT Gene

Relevant External Links for AASDHPPT

Genetic Association Database (GAD)

No disorders were found for AASDHPPT Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for AASDHPPT Gene

Publications for AASDHPPT Gene

  1. Identification of the alpha-aminoadipic semialdehyde dehydrogenase- phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene. (PMID: 11286508) Praphanphoj V. … Geraghty M.T. (Mol. Genet. Metab. 2001) 2 3 4 23
  2. Cloning, expression, and characterization of a human 4'- phosphopantetheinyl transferase with broad substrate specificity. (PMID: 12815048) Joshi A.K. … Smith S. (J. Biol. Chem. 2003) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 3 4
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4

Products for AASDHPPT Gene

Sources for AASDHPPT Gene

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