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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 61
  • 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 Chronic Maxillary Sinusitis. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. 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

Enhancers for AASDHPPT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F105610 0.7 ENCODE 4.7 -464.2 -464213 3.2 CBX2 RAD21 GLIS2 POLR2A GLIS1 POU5F1 CTBP2 FOXP2 EZH2 ZBTB20 AASDHPPT GRIA4 HSPD1P13
GH11F106019 0.2 Ensembl 11.2 -56.2 -56200 0.6 AASDHPPT KBTBD3 MSANTD4 RNU6-277P
GH11F106075 1.1 ENCODE 0.8 +2.0 1953 3.2 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 LOC105369473 KBTBD3 MSANTD4 AASDHPPT
GH11F105803 0.3 FANTOM5 1.1 -271.5 -271451 0.4 GRIA4 KBTBD3 MSANTD4 AASDHPPT RNU4-55P HSPD1P13
GH11F106030 0.6 ENCODE 0.2 -43.9 -43883 1.3 JUND RFX1 RAD51 JUN NFE2 MSANTD4 AASDHPPT
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AASDHPPT on UCSC Golden Path with GeneCards custom track

Genomic Location for AASDHPPT Gene

Chromosome:
11
Start:
106,075,501 bp from pter
End:
106,098,710 bp from pter
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; 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

    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 Lys 164 and Lys 263
  • Modification sites at PhosphoSitePlus

Other Protein References for AASDHPPT Gene

Domains & Families for AASDHPPT Gene

Protein Domains for AASDHPPT Gene

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

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 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

miRNA for AASDHPPT Gene

miRTarBase miRNAs that target AASDHPPT

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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

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 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 19056867
genes like me logo Genes that share ontologies with AASDHPPT: view

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 Nutra 0
Adenosine triphosphate Approved Nutra 0
NAD Pharma Full agonist, 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
1053-73-2
Aminoadipic acid
  • (+/-)-2-Aminoadipate
  • (+/-)-2-Aminoadipic acid
  • 2-Aminoadipate
  • 2-Aminoadipic acid
  • a-Aminoadipate
542-32-5
CoA-[4'-phosphopantetheine]
L-2-Aminoadipate adenylate
  • 5-Adenylyl-2-aminoadipate
  • alpha-Aminoadipoyl-C6-AMP
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, 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:

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.
genes like me logo Genes that share expression patterns with AASDHPPT: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia AASDHPPT 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia AASDHPPT 34 35
  • 93.36 (n)
cow
(Bos Taurus)
Mammalia AASDHPPT 34 35
  • 92.56 (n)
-- 35
  • 92 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aasdhppt 34 16 35
  • 87.49 (n)
rat
(Rattus norvegicus)
Mammalia Aasdhppt 34
  • 87.27 (n)
oppossum
(Monodelphis domestica)
Mammalia AASDHPPT 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AASDHPPT 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves AASDHPPT 34 35
  • 70.65 (n)
lizard
(Anolis carolinensis)
Reptilia AASDHPPT 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aasdhppt 34
  • 65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8486 34
zebrafish
(Danio rerio)
Actinopterygii aasdhppt 34 35
  • 59.14 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3803 34
fruit fly
(Drosophila melanogaster)
Insecta eap 34 35
  • 50.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007546 34
  • 46.23 (n)
worm
(Caenorhabditis elegans)
Secernentea T04G9.4 34 35
  • 46.09 (n)
T28H10.1 35
  • 29 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os11g0136500 34
  • 47.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
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

ENSEMBL:
Gene Tree for AASDHPPT (if available)
TreeFam:
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
rs1002629 -- 106,086,212(+) TCAGC(A/G)GGGCC intron-variant
rs10431054 -- 106,089,994(+) AGAAG(G/T)TATTA intron-variant
rs1047636 -- 106,076,558(-) ATTCA(A/G)CCGAT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1048683 -- 106,098,531(-) TAAAA(A/T)AAAAA utr-variant-3-prime
rs10573126 -- 106,085,476(+) AAGCT(-/TAAAA)TAATA intron-variant

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

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

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)

Relevant External Links for AASDHPPT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AASDHPPT

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

Disorders for AASDHPPT Gene

MalaCards: The human disease database

(1) MalaCards diseases for AASDHPPT Gene - From: DISEASES

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

Relevant External Links for AASDHPPT

Genetic Association Database (GAD)
AASDHPPT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.T. (Mol. Genet. Metab. 2001) 2 3 4 22 64
  2. Mechanism and substrate recognition of human holo ACP synthase. (PMID: 18022563) Bunkoczi G. … Oppermann U. (Chem. Biol. 2007) 2 3 4 64
  3. 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 64
  4. 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 64
  5. 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 64

Products for AASDHPPT Gene

Sources for AASDHPPT Gene

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