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Aliases & Descriptions for AASDHPPT
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| AASD-PPT 1, 2, 3 | | CGI-80 1, 2 | | DKFZp566E2346 2 | | EC 2.7.8.- 3 | | LYS2 2 | | LYS5 1, 2 |
| | | Descriptions |
|---|
| 4'-phosphopantetheinyl transferase 2, 3 | Alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase 2, 3 | | LYS5 ortholog 3 | aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 2 |
|
| | Search outside databases for aliases for AASDHPPT genePrevious GC identifers: GC11P108141 GC11P107304 GC11P105982 GC11P105486 |
Summaries for AASDHPPT(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for AASDHPPT: 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] UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7Function: 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 FASNGene Wiki entry for AASDHPPT |
Genomic Location for AASDHPPT
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the AASDHPPT gene 
Entrez Gene cytogenetic band: 11q22 Ensembl cytogenetic band: 11q22.3 HGNC cytogenetic band: 11q22AASDHPPT Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P105453:
(about GC identifiers)
Start:
|
105,453,502 bp from pter |
End:
|
105,474,629 bp from pter |
Size:
|
21,128 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000011.8 NT_033899.7
| Proteins for AASDHPPT
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7 (See
protein sequence)Recommended Name: L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase Size: 309 amino acids; 35776 Da
Cofactor: Binds 1 magnesium ion
Subunit: Monomer. Interacts with FASN
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAD34075.1; Type=Frameshift; Positions=34, 63;
PDB structures from and Proteopedia :2BYD (3D)
 2C43 (3D)
 2CG5 (3D)
 
Secondary accessions: B2R6D1 Q9C068 Q9P0Q3 Q9UG80 Q9Y389Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_056238.2
ENSEMBL proteins: ENSP00000278618
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for AASDHPPT: Assays for AASDHPPT: | Protein
Domains/ Families for AASDHPPT(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9NRN7
ProtoNet protein and cluster: Q9NRN7 1 Blocks protein family: IPB008278 4'-phosphopantetheinyl transferase
UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7Similarity: Belongs to the P-Pant transferase superfamily. AcpS family | Gene Function for AASDHPPT
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015423
Applied Biosystems Silencer® siRNAs for AASDHPPT
Sigma-Aldrich siRNA for AASDHPPT  Sigma-Aldrich shRNA for AASDHPPT  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_015423                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_015423                                  untagged cDNA clones in CMV expression vector (see all 2): NM_015423 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_015423
UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7Function: 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 FASNCatalytic activity: CoA-[4'-phosphopantetheine] + apo-[acyl-carrier-protein] = adenosine 3',5'-bisphosphate + holo-[acyl-carrier-protein]Biophysicochemical properties: Kinetic parameters: KM=0.44 mM for magnesium; KM=0.025 mM for coenzyme A;Enzyme Number (IUBMB): EC 2.7.8.- 3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000287 | magnesium ion binding |
IEA | -- | | GO:0008897 | holo-[acyl-carrier-protein] synthase activity |
IEA | -- | | GO:0016740 | transferase activity |
IEA | -- | About this table | Pathways & Interactions for AASDHPPT
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 2 Sigma-Aldrich "Your Favorite Gene" Pathways for AASDHPPT (Your Favorite Gene powered by Ingenuity) 
5/7 Interacting proteins for AASDHPPT (ENSP000002786183 Q9NRN72) via UniProtKB, MINT, and/or STRING (see all 7
)About this table
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0009059 | macromolecule biosynthetic process |
IEA | -- | About this table
|
Drugs & Compounds for AASDHPPT(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for AASDHPPT
|
Transcripts for AASDHPPT(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015423
Sigma-Aldrich siRNA for AASDHPPT  Sigma-Aldrich shRNA for AASDHPPT  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_015423 REFSEQ mRNAs for AASDHPPT gene: NM_015423.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_015423               OriGene GFP tagged cDNA clone in CMV expression vector: NM_015423                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_015423                                  untagged cDNA clones in CMV expression vector (see all 2): NM_015423  Additional cDNA sequence: AB072896.1 AF132199.1 AF136978.1 AF151057.1 AF151838.1 AF201943.1 AF302110.1 AK293362.1 AK312529.1 AL050073.1 BC015470.1 BC016728.1 BX537665.1 CR597963.1 11 DOTS entries: DT.210486 DT.443939 DT.100813776 DT.75121367 DT.95256209 DT.120714362 DT.120714436 DT.120714437 DT.95256203 DT.120714374 DT.95256198 24/314 AceView cDNA sequences (see all 314
):AI128641 BQ639444 AA047479 CA314306 AA912922 BC015470 BM855032 CD368341 BM472367 BC016728 BM969865 BM676420 BQ050229 BM271727 AI341281 BQ023818 AA559005 F05018 AI564350 AW069092 AA301268 AL548924 AA024903 AI312807
highest scoring ESTs for AASDHPPT:AL050073 AA024904 AA044279 AA047479 AA047480 AA112331 AA130097 AA160936 AA193003 AA280274 Unigene Cluster for AASDHPPT: Aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase Hs.524009 [show with all ESTs]Unigene Representative Sequence: BX537665
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for AASDHPPT
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for AASDHPPT
1 Ensembl transcript including schematic representation: ENST00000278618
|
Expression for AASDHPPT
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| AASDHPPT expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for AASDHPPT
1 / 2 / 3 5 probe-sets matching AASDHPPT gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: AGTGTAATGG
SOURCE GeneReport for Unigene cluster: Hs.524009
Expression variation in blood from EXPOLDB for AASDHPPT UniProtKB/Swiss-Prot: ADPPT_HUMAN, Q9NRN7Tissue specificity: Detected in heart, skeletal muscle, placenta, testis, brain, pancreas, liver and kidney |
Orthologs for AASDHPPT
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for AASDHPPT gene from 5/12 species (see all 12
)
About this table Species with no ortholog for AASDHPPT
ENSEMBL Gene Tree for AASDHPPT | Paralogs for AASDHPPT(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for AASDHPPT(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for AASDHPPT (up to first 250kb)
|
Disorders & Mutations for AASDHPPT
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 607756
|
Medical News for AASDHPPT(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for AASDHPPT (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/15 PubMed articles for AASDHPPT gene (see all 15
):- Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene. (PubMed id 11286508)1, 2, 3, 4 Praphanphoj V....Geraghty M.T. (2001)
- Cloning, expression, and characterization of a human 4'- phosphopantetheinyl transferase with broad substrate specificity. (PubMed id 12815048)2, 3, 4 Joshi A.K.... Smith S. (2003)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)3, 4 Hu R.-M.... Chen J.-L. (2000)
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)3, 4 Lai C.H....Lin W. (2000)
- Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)3, 4 Zhang Q.H....Chen Z. (2000)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)4 Dephoure N.... Gygi S.P. (2008)
- Mechanism and substrate recognition of human holo ACP synthase. (PubMed id 18022563)4 Bunkoczi G....Oppermann U. (2007)
- ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)4 Matsuoka S.... Elledge S.J. (2007)
- The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005)4 Bechtel S....Schupp I. (2007)
|
Search for AASDHPPT
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing AASDHPPT
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AASDHPPT
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AASDHPPT(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for AASDHPPT(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for AASDHPPT:

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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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