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 pipecol... See more...

Aliases for AASDHPPT Gene

Aliases for AASDHPPT Gene

  • Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase 2 3 5
  • AASD-PPT 2 3 4
  • Alpha-Aminoadipic Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase 3 4
  • L-Aminoadipate-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
  • CGI-80 2 3
  • ACPS 2 3
  • LYS5 2 3
  • EC 2.7.8.7 4
  • AASDHPPT 5
  • EC 2.7.8 51
  • LYS2 3

External Ids for AASDHPPT Gene

Previous GeneCards Identifiers for AASDHPPT Gene

  • GC11P108141
  • GC11P107304
  • GC11P105982
  • 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 Adamantinous Craniopharyngioma. Among its related pathways are Pantothenate and CoA biosynthesis and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and holo-[acyl-carrier-protein] synthase activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for AASDHPPT Gene

Genomics for AASDHPPT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AASDHPPT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J106076 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +2.2 2200 4.2 SP1 HNRNPL CREB1 CTCF ATF7 PRDM10 REST ZNF629 TFE3 KDM1A MSANTD4 KBTBD3 AASDHPPT lnc-MSANTD4-2 LINC02719
GH11J106021 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 -54.3 -54331 4.3 SP1 HNRNPL CREB1 TEAD4 PRDM10 ZNF512 IKZF1 ZNF692 BACH1 FOS MSANTD4 HSALNG0086902 AASDHPPT KBTBD3 ENSG00000254433 lnc-MSANTD4-1 GRIA4
GH11J105610 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 4.7 -463.5 -463504 5.2 CTCF TEAD4 POLR2A ZBTB20 RAD21 SMC3 YY1 GLIS1 EZH2 POU5F1 GRIA4 AASDHPPT CASP4 piR-38352-094 MSANTD4
GH11J106087 Enhancer 0.9 Ensembl ENCODE 0.4 +13.2 13220 7.4 CTCF FOXA1 REST RAD21 IKZF2 TRIM22 CEBPA EED ARID3A JUND MSANTD4 ENSG00000255065 LINC02719 ENSG00000254433 AASDHPPT KBTBD3 GUCY1A2
GH11J105803 Enhancer 0.2 FANTOM5 1.1 -271.5 -271450 0.4 GRIA4 KBTBD3 MSANTD4 AASDHPPT RF00015-013 RNU4-55P lnc-AASDHPPT-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AASDHPPT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AASDHPPT

Top Transcription factor binding sites by QIAGEN in the AASDHPPT gene promoter:
  • AhR
  • Arnt
  • CBF(2)
  • NF-Y
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for AASDHPPT Gene

Genomic Locations for AASDHPPT Gene
chr11:106,075,501-106,098,699
(GRCh38/hg38)
Size:
23,199 bases
Orientation:
Plus strand
chr11:105,946,228-105,969,437
(GRCh37/hg19)
Size:
23,210 bases
Orientation:
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:
    Q9NRN7-ADPPT_HUMAN
    Recommended name:
    L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
    Protein Accession:
    Q9NRN7
    Secondary Accessions:
    • B2R6D1
    • B4DDW7
    • Q9C068
    • Q9P0Q3
    • Q9UG80
    • Q9Y389

    Protein attributes for AASDHPPT Gene

    Size:
    309 amino acids
    Molecular mass:
    35776 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer. Interacts with FASN.
    SequenceCaution:
    • Sequence=AAD34075.1; Type=Frameshift; 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

    UniProtKB/Swiss-Prot:

neXtProt entry for AASDHPPT Gene

Selected DME Specific Peptides for AASDHPPT Gene

Q9NRN7:
  • FTILNFNDL
  • MEGVRWAFSCGTWLPS
  • RSIQPEEKERIG
  • QVGIDIMKTSFPGRGSIPEFFHIMKRKFT
  • SHQGDYAVLAAEP

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

InterPro:
Blocks:
  • 4'-phosphopantetheinyl transferase
ProtoNet:

Suggested Antigen Peptide Sequences for AASDHPPT Gene

GenScript: Design optimal peptide antigens:
  • LYS5 ortholog (ADPPT_HUMAN)
  • cDNA FLJ57947, highly similar to L-aminoadipate-semialdehydedehydrogenase-phosphopantetheinyl transferase (EC 2.7.8.-) (B4DDW7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRN7

UniProtKB/Swiss-Prot:

ADPPT_HUMAN :
  • Belongs to the P-Pant transferase superfamily. AcpS family.
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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=apo-[ACP] + CoA = adenosine 3',5'-bisphosphate + H(+) + holo-[ACP]; Xref=Rhea:RHEA:12068, Rhea:RHEA-COMP:9685, Rhea:RHEA-COMP:9690, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57287, ChEBI:CHEBI:58343, ChEBI:CHEBI:64479; EC=2.7.8.7;.
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};

Enzyme Numbers (IUBMB) for AASDHPPT Gene

Phenotypes From GWAS Catalog 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 Models for AASDHPPT Gene

MGI Knock Outs for AASDHPPT:

Animal Model Products

CRISPR Products

miRNA for AASDHPPT Gene

miRTarBase miRNAs that target AASDHPPT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AASDHPPT

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AASDHPPT Gene

Localization for AASDHPPT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AASDHPPT Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 4
cytosol 4
mitochondrion 3
nucleus 3
plasma membrane 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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 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:0015939 pantothenate metabolic process TAS --
GO:0019878 lysine biosynthetic process via aminoadipic acid IBA 21873635
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

(11) Drugs for AASDHPPT Gene - From: DrugBank and 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
Adenosine 3',5'-diphosphate Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Aminoadipic acid
  • (+/-)-2-aminoadipic acid
  • Aad
  • alpha-Aminoadipic acid
  • DL-2-Aminoadipic acid
  • DL-2-Aminohexanedioic acid
542-32-5
CoA-[4'-phosphopantetheine]
L-2-Aminoadipate adenylate
  • 5-Adenylyl-2-aminoadipate
  • alpha-Aminoadipoyl-C6-AMP
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with AASDHPPT: view

Transcripts for AASDHPPT Gene

mRNA/cDNA for AASDHPPT Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AASDHPPT

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1: -
SP2: - -
SP3:

Relevant External Links for AASDHPPT Gene

GeneLoc Exon Structure for
AASDHPPT

Expression for AASDHPPT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for AASDHPPT Gene



Protein tissue co-expression partners for AASDHPPT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AASDHPPT

SOURCE GeneReport for Unigene cluster for AASDHPPT Gene:

Hs.524009

mRNA Expression by UniProt/SwissProt for AASDHPPT Gene:

Q9NRN7-ADPPT_HUMAN
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(4.5)
  • Kidney(4.5)
  • Liver(4.4)
  • Spleen(4.4)
  • Lymph node(4.4)
  • Adrenal gland(4.4)
  • Skin(2.6)
  • Intestine(2.4)
  • Muscle(2.4)
  • Heart(2.3)
  • Lung(2.1)
  • Stomach(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
Chimpanzee
(Pan troglodytes)
Mammalia AASDHPPT 30 31
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AASDHPPT 30 31
  • 93.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AASDHPPT 30 31
  • 92.56 (n)
OneToMany
-- 31
  • 92 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Aasdhppt 30 17 31
  • 87.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aasdhppt 30
  • 87.27 (n)
Oppossum
(Monodelphis domestica)
Mammalia AASDHPPT 31
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AASDHPPT 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AASDHPPT 30 31
  • 70.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AASDHPPT 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aasdhppt 30
  • 65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8486 30
Zebrafish
(Danio rerio)
Actinopterygii aasdhppt 30 31
  • 59.14 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3803 30
Fruit Fly
(Drosophila melanogaster)
Insecta eap 30 31
  • 50.09 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007546 30
  • 46.23 (n)
Worm
(Caenorhabditis elegans)
Secernentea T04G9.4 30 31
  • 46.09 (n)
OneToMany
T28H10.1 31
  • 29 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os11g0136500 30
  • 47.35 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToOne
Species where no ortholog for AASDHPPT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for AASDHPPT (if available)
TreeFam:
Gene Tree for AASDHPPT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AASDHPPT: view image

Paralogs for AASDHPPT Gene

No data available for Paralogs for AASDHPPT Gene

Variants for AASDHPPT Gene

Additional dbSNP identifiers (rs#s) for AASDHPPT Gene

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
AASDHPPT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AASDHPPT Gene

Disorders for AASDHPPT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pipecolic acidemia
adamantinous craniopharyngioma
  • adamantinous rathke's pouch tumor
papillary craniopharyngioma
  • craniopharyngioma, papillary
pyometritis
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 23
  2. Mechanism and substrate recognition of human holo ACP synthase. (PMID: 18022563) Bunkoczi G … Oppermann U (Chemistry & biology 2007) 2 3 4
  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
  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
  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

Products for AASDHPPT Gene

Sources for AASDHPPT Gene