Human Gene AASDHPPT (ENST00000278618.9_4) from GENCODE V47lift37
  Description: aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (from RefSeq NM_015423.3)
Gencode Transcript: ENST00000278618.9_4
Gencode Gene: ENSG00000149313.11_9
Transcript (Including UTRs)
   Position: hg19 chr11:105,948,389-105,969,422 Size: 21,034 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr11:105,948,438-105,967,634 Size: 19,197 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:105,948,389-105,969,422)mRNA (may differ from genome)Protein (309 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ADPPT_HUMAN
DESCRIPTION: RecName: Full=L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase; EC=2.7.8.-; AltName: Full=4'-phosphopantetheinyl transferase; AltName: Full=Alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase; Short=AASD-PPT; AltName: Full=LYS5 ortholog;
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.
CATALYTIC ACTIVITY: CoA-[4'-phosphopantetheine] + apo-[acyl- carrier-protein] = adenosine 3',5'-bisphosphate + holo-[acyl- carrier-protein].
COFACTOR: Binds 1 magnesium ion.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.44 mM for magnesium; KM=0.025 mM for coenzyme A;
SUBUNIT: Monomer. Interacts with FASN.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Detected in heart, skeletal muscle, placenta, testis, brain, pancreas, liver and kidney.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the P-Pant transferase superfamily. AcpS family.
SEQUENCE CAUTION: Sequence=AAD34075.1; Type=Frameshift; Positions=34, 63; Sequence=AAF86879.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AASDHPPT
Diseases sorted by gene-association score: chronic maxillary sinusitis (2), nervous system benign neoplasm (1), andersen syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.77 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 729.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.7049-0.300 Picture PostScript Text
3' UTR -385.701788-0.216 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008278 - 4-PPantetheinyl_Trfase

Pfam Domains:
PF01648 - 4'-phosphopantetheinyl transferase superfamily

SCOP Domains:
56214 - 4'-phosphopantetheinyl transferase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2BYD - X-ray MuPIT 2C43 - X-ray MuPIT 2CG5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NRN7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0005515 protein binding
GO:0008897 holo-[acyl-carrier-protein] synthase activity
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0015939 pantothenate metabolic process
GO:0019878 lysine biosynthetic process via aminoadipic acid

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF151057 - Homo sapiens HSPC223 mRNA, complete cds.
AF136978 - Homo sapiens proteinx0005 mRNA, complete cds.
AF151838 - Homo sapiens CGI-80 protein mRNA, complete cds.
AF302110 - Homo sapiens alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase mRNA, complete cds.
AF201943 - Homo sapiens HAH-P (HAH-P) mRNA, complete cds.
BC016728 - Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase, mRNA (cDNA clone MGC:24460 IMAGE:4081713), complete cds.
AK312529 - Homo sapiens cDNA, FLJ92898, Homo sapiens aminoadipate-semialdehydedehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.
BC015470 - Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase, mRNA (cDNA clone MGC:8777 IMAGE:3914010), complete cds.
AK293362 - Homo sapiens cDNA FLJ57947 complete cds, highly similar to L-aminoadipate-semialdehydedehydrogenase-phosphopantetheinyl transferase (EC 2.7.8.-).
JD288214 - Sequence 269238 from Patent EP1572962.
CU677695 - Synthetic construct Homo sapiens gateway clone IMAGE:100017005 5' read AASDHPPT mRNA.
AB463408 - Synthetic construct DNA, clone: pF1KB6421, Homo sapiens AASDHPPT gene for aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase, without stop codon, in Flexi system.
DQ891342 - Synthetic construct clone IMAGE:100003972; FLH171239.01X; RZPDo839G02100D aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT) gene, encodes complete protein.
DQ894524 - Synthetic construct Homo sapiens clone IMAGE:100008984; FLH171235.01L; RZPDo839G0299D aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT) gene, encodes complete protein.
KJ894497 - Synthetic construct Homo sapiens clone ccsbBroadEn_03891 AASDHPPT gene, encodes complete protein.
KJ899406 - Synthetic construct Homo sapiens clone ccsbBroadEn_08800 AASDHPPT gene, encodes complete protein.
AL050073 - Homo sapiens mRNA; cDNA DKFZp566E2346 (from clone DKFZp566E2346); partial cds.
BX537665 - Homo sapiens mRNA; cDNA DKFZp686B1090 (from clone DKFZp686B1090).
AB072896 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla10830.
JD203143 - Sequence 184167 from Patent EP1572962.
JD195253 - Sequence 176277 from Patent EP1572962.
JD386409 - Sequence 367433 from Patent EP1572962.
JD053398 - Sequence 34422 from Patent EP1572962.
JD171940 - Sequence 152964 from Patent EP1572962.
JD286080 - Sequence 267104 from Patent EP1572962.
JD281108 - Sequence 262132 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6012-1 - acyl carrier protein activation

Reactome (by CSHL, EBI, and GO)

Protein Q9NRN7 (Reactome details) participates in the following event(s):

R-HSA-199202 Phosphopantetheine conjugation of the ACP domain of FAS
R-HSA-199220 Vitamin B5 (pantothenate) metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ADPPT_HUMAN, B2R6D1, B4DDW7, CGI-80, ENST00000278618.1, ENST00000278618.2, ENST00000278618.3, ENST00000278618.4, ENST00000278618.5, ENST00000278618.6, ENST00000278618.7, ENST00000278618.8, HAH-P, HSPC223, NM_015423, Q9C068, Q9NRN7, Q9P0Q3, Q9UG80, Q9Y389, uc317jpi.1, uc317jpi.2, x0005
UCSC ID: ENST00000278618.9_4
RefSeq Accession: NM_015423.3
Protein: Q9NRN7 (aka ADPPT_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.