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Aliases for AASDHPPT Gene

Aliases for AASDHPPT Gene

  • Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase 2 3 5
  • Alpha-Aminoadipic Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase 3 4
  • Holo-[Acyl-Carrier-Protein] Synthase 2 3
  • 4-Phosphopantetheinyl Transferase 3 4
  • Holo ACP Synthase 2 3
  • LYS5 Ortholog 3 4
  • AASD-PPT 3 4
  • L-Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase 3
  • EC 2.7.8.- 4
  • EC 2.7.8 56
  • CGI-80 3
  • LYS2 3
  • ACPS 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. Diseases associated with AASDHPPT include Pipecolic Acidemia and Chronic Maxillary Sinusitis. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (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

Additional gene information for AASDHPPT Gene

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

Genomics for AASDHPPT Gene

GeneHancer (GH) Regulatory Elements for AASDHPPT Gene

Promoters and enhancers for AASDHPPT Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I106075 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +2.0 1953 3.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 KBTBD3 AASDHPPT LOC105369473 MSANTD4
GH11I105609 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 4.7 -464.2 -464212 3.2 CTCF MXI1 GLIS2 POLR2A GLIS1 CTBP2 POU5F1 EZH2 ZBTB20 GRIA4 AASDHPPT HSPD1P13
GH11I105803 Enhancer 0.3 FANTOM5 1.1 -271.5 -271450 0.4 GRIA4 KBTBD3 MSANTD4 AASDHPPT RNU4-55P HSPD1P13
GH11I106087 Enhancer 0.6 ENCODE 0.4 +12.5 12508 0.2 CTCF ZNF654 FOXA2 ARNT TRIM22 CEBPB REST CEBPG RAD21 CEBPA KBTBD3 AASDHPPT ENSG00000254433
GH11I106090 Enhancer 0.6 ENCODE 0.4 +16.2 16163 1.6 JUNB BATF ATF2 IRF4 NFIC IKZF1 FOS ATF7 IKZF2 LOC643855 KBTBD3 ENSG00000254433 AASDHPPT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AASDHPPT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AASDHPPT gene promoter:

Genomic Locations for AASDHPPT Gene

Genomic Locations for AASDHPPT Gene
23,210 bases
Plus strand

Genomic View for AASDHPPT Gene

Genes around AASDHPPT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AASDHPPT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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

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

Domains & Families for AASDHPPT Gene

Gene Families for AASDHPPT Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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 TAS --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AASDHPPT: view
genes like me logo Genes that share phenotypes with AASDHPPT: view

Animal Model Products

CRISPR Products


miRTarBase miRNAs that target AASDHPPT

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AASDHPPT gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AASDHPPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA,HDA 19056867
genes like me logo Genes that share ontologies with AASDHPPT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AASDHPPT Gene

Pathways & Interactions for AASDHPPT Gene

genes like me logo Genes that share pathways with AASDHPPT: view

Pathways by source for AASDHPPT Gene

Gene Ontology (GO) - Biological Process for AASDHPPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process IEA --
GO:0015939 pantothenate metabolic process TAS --
GO:0019878 lysine biosynthetic process via aminoadipic acid IBA --
genes like me logo Genes that share ontologies with AASDHPPT: view

No data available for SIGNOR curated interactions for AASDHPPT Gene

Drugs & Compounds for AASDHPPT Gene

(7) Drugs for AASDHPPT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
NADH Approved Nutra 0
ATP Investigational Nutra Agonist 0

(7) Additional Compounds for AASDHPPT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
Aminoadipic acid
  • (+/-)-2-Aminoadipate
  • (+/-)-2-Aminoadipic acid
  • 2-Aminoadipate
  • 2-Aminoadipic acid
  • a-Aminoadipate
L-2-Aminoadipate adenylate
  • 5-Adenylyl-2-aminoadipate
  • alpha-Aminoadipoyl-C6-AMP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for AASDHPPT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AASDHPPT Gene

This gene is overexpressed in Lymph node (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AASDHPPT Gene

Protein tissue co-expression partners for AASDHPPT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AASDHPPT Gene:


SOURCE GeneReport for Unigene cluster for AASDHPPT Gene:


mRNA Expression by UniProt/SwissProt for AASDHPPT Gene:

Tissue specificity: Detected in heart, skeletal muscle, placenta, testis, brain, pancreas, liver and kidney.

Evidence on tissue expression from TISSUES for AASDHPPT Gene

  • Nervous system(5)
  • Blood(4.3)
  • Kidney(4.3)
  • Adrenal gland(4.2)
  • Liver(4.2)
  • Lymph node(4.2)
  • Spleen(4.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with AASDHPPT: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia AASDHPPT 33 34
  • 99.78 (n)
(Canis familiaris)
Mammalia AASDHPPT 33 34
  • 93.36 (n)
(Bos Taurus)
Mammalia AASDHPPT 33 34
  • 92.56 (n)
-- 34
  • 92 (a)
(Mus musculus)
Mammalia Aasdhppt 33 16 34
  • 87.49 (n)
(Rattus norvegicus)
Mammalia Aasdhppt 33
  • 87.27 (n)
(Monodelphis domestica)
Mammalia AASDHPPT 34
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia AASDHPPT 34
  • 59 (a)
(Gallus gallus)
Aves AASDHPPT 33 34
  • 70.65 (n)
(Anolis carolinensis)
Reptilia AASDHPPT 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aasdhppt 33
  • 65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8486 33
(Danio rerio)
Actinopterygii aasdhppt 33 34
  • 59.14 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3803 33
fruit fly
(Drosophila melanogaster)
Insecta eap 33 34
  • 50.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007546 33
  • 46.23 (n)
(Caenorhabditis elegans)
Secernentea T04G9.4 33 34
  • 46.09 (n)
T28H10.1 34
  • 29 (a)
(Oryza sativa)
Liliopsida Os11g0136500 33
  • 47.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
Species where no ortholog for AASDHPPT was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000110129 -- 106,080,711(+) A/G intron_variant
rs1000556668 -- 106,082,725(+) C/T intron_variant
rs1000623423 -- 106,076,359(+) G/A upstream_transcript_variant
rs1000646334 -- 106,085,137(+) T/G intron_variant
rs1000652680 -- 106,097,993(+) G/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for AASDHPPT Gene

Variant ID Type Subtype PubMed ID
esv3627623 CNV loss 21293372
nsv1052674 CNV loss 25217958

Variation tolerance for AASDHPPT Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AASDHPPT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AASDHPPT Gene

Disorders for AASDHPPT Gene

MalaCards: The human disease database

(2) MalaCards diseases for AASDHPPT Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pipecolic acidemia
chronic maxillary sinusitis
  • chronic antritis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AASDHPPT

genes like me logo Genes that share disorders with AASDHPPT: view

No data available for UniProtKB/Swiss-Prot 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 MT (Molecular genetics and metabolism 2001) 2 3 4 22 58
  2. Mechanism and substrate recognition of human holo ACP synthase. (PMID: 18022563) Bunkoczi G … Oppermann U (Chemistry & biology 2007) 2 3 4 58
  3. Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity. (PMID: 12815048) Joshi AK … Smith S (The Journal of biological chemistry 2003) 2 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4 58

Products for AASDHPPT Gene

Sources for AASDHPPT Gene

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