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Protein

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

Gene

AASDHPPT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

Catalytic activityi

CoA-[4'-phosphopantetheine] + apo-[acyl-carrier-protein] = adenosine 3',5'-bisphosphate + holo-[acyl-carrier-protein].

Cofactori

Mg2+2 PublicationsNote: Binds 1 Mg2+ ion.2 Publications

Kineticsi

  1. KM=0.44 mM for magnesium1 Publication
  2. KM=0.025 mM for coenzyme A1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei47Coenzyme A1
    Metal bindingi129Magnesium1
    Metal bindingi181Magnesium1

    GO - Molecular functioni

    • holo-[acyl-carrier-protein] synthase activity Source: UniProtKB
    • magnesium ion binding Source: UniProtKB

    GO - Biological processi

    Keywordsi

    Molecular functionTransferase
    LigandMagnesium, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS14278-MONOMER
    BRENDAi2.7.8.7 2681
    ReactomeiR-HSA-199220 Vitamin B5 (pantothenate) metabolism
    SABIO-RKiQ9NRN7

    Chemistry databases

    SwissLipidsiSLP:000001260

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (EC:2.7.8.-)
    Alternative name(s):
    4'-phosphopantetheinyl transferase
    Alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase
    Short name:
    AASD-PPT
    LYS5 ortholog
    Gene namesi
    ORF Names:CGI-80, HAH-P, HSPC223, x0005
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 11

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000149313.10
    HGNCiHGNC:14235 AASDHPPT
    MIMi607756 gene
    neXtProtiNX_Q9NRN7

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi47R → A: Reduces affinity for magnesium 7-fold, and enzyme activity 2-fold. 1 Publication1
    Mutagenesisi86R → A: Reduces affinity for magnesium and coenzyme A, and reduces enzyme activity 7-fold. 1 Publication1
    Mutagenesisi111H → A: Reduces affinity for magnesium 75-fold, and enzyme activity 150-fold. 1 Publication1
    Mutagenesisi112Q → E: Reduces affinity for magnesium 200-fold and abolishes enzyme activity; when associated with Q-181. 1 Publication1
    Mutagenesisi129D → A: Reduces affinity for magnesium 10-fold, and enzyme activity 30000-fold. 1 Publication1
    Mutagenesisi181E → A: Reduces affinity for magnesium 40-fold, and enzyme activity 32000-fold. 1 Publication1
    Mutagenesisi181E → Q: Reduces affinity for magnesium 20-fold, and enzyme activity 6500-fold. 1 Publication1
    Mutagenesisi185K → A: Reduces enzyme activity 2000-fold, with only minor change in the affinity for magnesium and coenzyme A. 1 Publication1

    Organism-specific databases

    DisGeNETi60496
    OpenTargetsiENSG00000149313
    PharmGKBiPA24368

    Chemistry databases

    ChEMBLiCHEMBL3137295

    Polymorphism and mutation databases

    BioMutaiAASDHPPT
    DMDMi81170356

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00001757361 – 309L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferaseAdd BLAST309

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei258PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    EPDiQ9NRN7
    MaxQBiQ9NRN7
    PaxDbiQ9NRN7
    PeptideAtlasiQ9NRN7
    PRIDEiQ9NRN7
    ProteomicsDBi82396

    PTM databases

    iPTMnetiQ9NRN7
    PhosphoSitePlusiQ9NRN7
    SwissPalmiQ9NRN7

    Expressioni

    Tissue specificityi

    Detected in heart, skeletal muscle, placenta, testis, brain, pancreas, liver and kidney.2 Publications

    Gene expression databases

    BgeeiENSG00000149313
    CleanExiHS_AASDHPPT
    ExpressionAtlasiQ9NRN7 baseline and differential
    GenevisibleiQ9NRN7 HS

    Organism-specific databases

    HPAiHPA026687

    Interactioni

    Subunit structurei

    Monomer. Interacts with FASN.1 Publication

    Binary interactionsi

    Show more details

    Protein-protein interaction databases

    BioGridi121927, 37 interactors
    IntActiQ9NRN7, 14 interactors
    MINTiQ9NRN7
    STRINGi9606.ENSP00000278618

    Structurei

    Secondary structure

    1309
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Beta strandi17 – 21Combined sources5
    Helixi23 – 25Combined sources3
    Helixi30 – 38Combined sources9
    Helixi42 – 49Combined sources8
    Helixi54 – 74Combined sources21
    Helixi79 – 81Combined sources3
    Beta strandi84 – 86Combined sources3
    Beta strandi92 – 94Combined sources3
    Beta strandi102 – 104Combined sources3
    Beta strandi106 – 112Combined sources7
    Beta strandi115 – 132Combined sources18
    Beta strandi137 – 139Combined sources3
    Helixi141 – 147Combined sources7
    Helixi149 – 151Combined sources3
    Helixi154 – 160Combined sources7
    Beta strandi163 – 165Combined sources3
    Helixi166 – 187Combined sources22
    Helixi190 – 192Combined sources3
    Helixi195 – 197Combined sources3
    Beta strandi198 – 201Combined sources4
    Beta strandi203 – 206Combined sources4
    Beta strandi217 – 220Combined sources4
    Beta strandi228 – 236Combined sources9
    Beta strandi239 – 246Combined sources8
    Beta strandi270 – 272Combined sources3
    Helixi274 – 277Combined sources4
    Turni278 – 280Combined sources3
    Helixi289 – 291Combined sources3
    Helixi298 – 300Combined sources3
    Turni305 – 307Combined sources3

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    2BYDX-ray2.00A14-309[»]
    2C43X-ray1.93A14-309[»]
    2CG5X-ray2.70A14-309[»]
    ProteinModelPortaliQ9NRN7
    SMRiQ9NRN7
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9NRN7

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni86 – 91Coenzyme A binding6
    Regioni108 – 111Coenzyme A binding4
    Regioni181 – 185Coenzyme A binding5

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiKOG0945 Eukaryota
    COG2091 LUCA
    GeneTreeiENSGT00390000004663
    HOGENOMiHOG000265195
    HOVERGENiHBG080822
    InParanoidiQ9NRN7
    KOiK06133
    OMAiVRWAFRC
    OrthoDBiEOG091G0CU8
    PhylomeDBiQ9NRN7
    TreeFamiTF313753

    Family and domain databases

    Gene3Di3.90.470.20, 3 hits
    InterProiView protein in InterPro
    IPR008278 4-PPantetheinyl_Trfase_dom
    IPR037143 4-PPantetheinyl_Trfase_dom_sf
    PfamiView protein in Pfam
    PF01648 ACPS, 1 hit
    SUPFAMiSSF56214 SSF56214, 2 hits

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    Isoform 1 (identifier: Q9NRN7-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

            10         20         30         40         50
    MVFPAKRFCL VPSMEGVRWA FSCGTWLPSR AEWLLAVRSI QPEEKERIGQ
    60 70 80 90 100
    FVFARDAKAA MAGRLMIRKL VAEKLNIPWN HIRLQRTAKG KPVLAKDSSN
    110 120 130 140 150
    PYPNFNFNIS HQGDYAVLAA EPELQVGIDI MKTSFPGRGS IPEFFHIMKR
    160 170 180 190 200
    KFTNKEWETI RSFKDEWTQL DMFYRNWALK ESFIKAIGVG LGFELQRLEF
    210 220 230 240 250
    DLSPLNLDIG QVYKETRLFL DGEEEKEWAF EESKIDEHHF VAVALRKPDG
    260 270 280 290 300
    SRHQDVPSQD DSKPTQRQFT ILNFNDLMSS AVPMTPEDPS FWDCFCFTEE

    IPIRNGTKS
    Length:309
    Mass (Da):35,776
    Last modified:November 8, 2005 - v2
    Checksum:i6263E302600FDDED
    GO
    Isoform 2 (identifier: Q9NRN7-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         138-138: R → T
         139-309: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:138
    Mass (Da):15,574
    Checksum:iEBB854D6A68B6AAC
    GO

    Sequence cautioni

    The sequence AAD34075 differs from that shown. Reason: Frameshift at positions 34 and 63.Curated
    The sequence AAF86879 differs from that shown. Reason: Erroneous initiation.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti136 – 141PGRGSI → FQVVVQF in AAG49439 (PubMed:10931946).Curated6
    Sequence conflicti307 – 309TKS → YKVMMIP in AAG49439 (PubMed:10931946).Curated3

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_055783138R → T in isoform 2. 1 Publication1
    Alternative sequenceiVSP_055784139 – 309Missing in isoform 2. 1 PublicationAdd BLAST171

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF302110 mRNA Translation: AAG30872.1
    AF151838 mRNA Translation: AAD34075.1 Frameshift.
    AF151057 mRNA Translation: AAF36143.1
    AF136978 mRNA Translation: AAG49439.1
    AF201943 mRNA Translation: AAF86879.1 Different initiation.
    AK312529 mRNA Translation: BAG35428.1
    AK293362 mRNA Translation: BAG56878.1
    AP001001 Genomic DNA No translation available.
    CH471065 Genomic DNA Translation: EAW67078.1
    BC015470 mRNA Translation: AAH15470.1
    BC016728 mRNA Translation: AAH16728.1
    AL050073 mRNA Translation: CAB43257.1
    CCDSiCCDS31664.1 [Q9NRN7-1]
    PIRiT08733
    RefSeqiNP_056238.2, NM_015423.2 [Q9NRN7-1]
    UniGeneiHs.524009

    Genome annotation databases

    EnsembliENST00000278618; ENSP00000278618; ENSG00000149313 [Q9NRN7-1]
    ENST00000525660; ENSP00000437144; ENSG00000149313 [Q9NRN7-2]
    GeneIDi60496
    KEGGihsa:60496
    UCSCiuc001pjc.2 human [Q9NRN7-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Similar proteinsi

    Entry informationi

    Entry nameiADPPT_HUMAN
    AccessioniPrimary (citable) accession number: Q9NRN7
    Secondary accession number(s): B2R6D1
    , B4DDW7, Q9C068, Q9P0Q3, Q9UG80, Q9Y389
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2005
    Last sequence update: November 8, 2005
    Last modified: June 20, 2018
    This is version 137 of the entry and version 2 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

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