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Protein

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

Gene

AASDHPPT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

    Complete GO annotation...

    Keywords - Molecular functioni

    Transferase

    Keywords - Ligandi

    Magnesium, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS14278-MONOMER.
    ZFISH:HS14278-MONOMER.
    BRENDAi2.7.8.7. 2681.
    ReactomeiR-HSA-199220. Vitamin B5 (pantothenate) metabolism.
    SABIO-RKQ9NRN7.

    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

    HGNCiHGNC:14235. AASDHPPT.

    Subcellular locationi

    • Cytoplasm 1 Publication

    GO - Cellular componenti

    • cytosol Source: Reactome
    • extracellular exosome Source: UniProtKB
    Complete GO annotation...

    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.

    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

    WithEntry#Exp.IntActNotes
    SIAH1Q8IUQ43EBI-740884,EBI-747107
    TRAF2Q129336EBI-740884,EBI-355744
    USP22Q9UPT96EBI-740884,EBI-723510

    Protein-protein interaction databases

    BioGridi121927. 31 interactors.
    IntActiQ9NRN7. 11 interactors.
    MINTiMINT-5005661.
    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. 2 hits.
    InterProiIPR008278. 4-PPantetheinyl_Trfase_SF.
    [Graphical view]
    PfamiPF01648. ACPS. 1 hit.
    [Graphical view]
    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

    Cross-referencesi

    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.

    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...

    Protein-protein interaction databases

    BioGridi121927. 31 interactors.
    IntActiQ9NRN7. 11 interactors.
    MINTiMINT-5005661.
    STRINGi9606.ENSP00000278618.

    Chemistry databases

    ChEMBLiCHEMBL3137295.
    SwissLipidsiSLP:000001260.

    PTM databases

    iPTMnetiQ9NRN7.
    PhosphoSitePlusiQ9NRN7.
    SwissPalmiQ9NRN7.

    Polymorphism and mutation databases

    BioMutaiAASDHPPT.
    DMDMi81170356.

    Proteomic databases

    EPDiQ9NRN7.
    MaxQBiQ9NRN7.
    PaxDbiQ9NRN7.
    PeptideAtlasiQ9NRN7.
    PRIDEiQ9NRN7.

    Protocols and materials databases

    DNASUi60496.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

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

    Organism-specific databases

    CTDi60496.
    DisGeNETi60496.
    GeneCardsiAASDHPPT.
    HGNCiHGNC:14235. AASDHPPT.
    HPAiHPA026687.
    MIMi607756. gene.
    neXtProtiNX_Q9NRN7.
    OpenTargetsiENSG00000149313.
    PharmGKBiPA24368.
    GenAtlasiSearch...

    Phylogenomic databases

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

    Enzyme and pathway databases

    BioCyciMetaCyc:HS14278-MONOMER.
    ZFISH:HS14278-MONOMER.
    BRENDAi2.7.8.7. 2681.
    ReactomeiR-HSA-199220. Vitamin B5 (pantothenate) metabolism.
    SABIO-RKQ9NRN7.

    Miscellaneous databases

    ChiTaRSiAASDHPPT. human.
    EvolutionaryTraceiQ9NRN7.
    GeneWikiiAASDHPPT.
    GenomeRNAii60496.
    PROiQ9NRN7.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000149313.
    CleanExiHS_AASDHPPT.
    ExpressionAtlasiQ9NRN7. baseline and differential.
    GenevisibleiQ9NRN7. HS.

    Family and domain databases

    Gene3Di3.90.470.20. 2 hits.
    InterProiIPR008278. 4-PPantetheinyl_Trfase_SF.
    [Graphical view]
    PfamiPF01648. ACPS. 1 hit.
    [Graphical view]
    SUPFAMiSSF56214. SSF56214. 2 hits.
    ProtoNetiSearch...

    Entry informationi

    Entry nameiADPPT_HUMAN
    AccessioniPrimary (citable) accession number: Q9NRN7
    Secondary accession number(s): B2R6D1
    , B4DDW7, Q9C068, Q9P0Q3, Q9UG80, Q9Y389
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2005
    Last sequence update: November 8, 2005
    Last modified: November 30, 2016
    This is version 127 of the entry and version 2 of the sequence. [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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.