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    AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase [ Homo sapiens (human) ]

    Gene ID: 60496, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AASDHPPTprovided by HGNC
    Official Full Name
    aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferaseprovided by HGNC
    Primary source
    HGNC:HGNC:14235
    See related
    Ensembl:ENSG00000149313 MIM:607756; AllianceGenome:HGNC:14235
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACPS; LYS2; LYS5; CGI-80; AASD-PPT
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 32.8), testis (RPKM 17.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AASDHPPT in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (106077662..106098695)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (106082274..106103304)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (105948389..105969422)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5464 Neighboring gene Myb/SANT DNA binding domain containing 4 with coiled-coils Neighboring gene kelch repeat and BTB domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5468 Neighboring gene long intergenic non-protein coding RNA 2719 Neighboring gene uncharacterized LOC101928535

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene. Praphanphoj V, et al. Mol Genet Metab, 2001 Apr. PMID 11286508
    2. Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity. Joshi AK, et al. J Biol Chem, 2003 Aug 29. PMID 12815048
    3. Mechanism and substrate recognition of human holo ACP synthase. Bunkoczi G, et al. Chem Biol, 2007 Nov. PMID 18022563, Free PMC Article
    4. Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase. Strickland KC, et al. J Biol Chem, 2010 Jan 15. PMID 19933275, Free PMC Article
    5. Enzymatic properties of ALDH1L2, a mitochondrial 10-formyltetrahydrofolate dehydrogenase. Strickland KC, et al. Chem Biol Interact, 2011 May 30. PMID 21238436, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our study identifies human PPT as the FDH-modifying enzyme and supports the hypothesis that mammals utilize a single enzyme for all phosphopantetheinylation reactions.
      Title: Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase.
    2. humans appear to utilize a single, broad specificity enzyme, 4'-phosphopantetheine transferase, for all posttranslational 4'-phosphopantetheinylation reactions
      Title: Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp566E2346

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables holo-[acyl-carrier-protein] synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables holo-[acyl-carrier-protein] synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables holo-[acyl-carrier-protein] synthase activity TAS
    Traceable Author Statement
    more info
    		  
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_positive_effect 10-formyltetrahydrofolate catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysine biosynthetic process via aminoadipic acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pantothenate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein maturation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
    Names
    4'-phosphopantetheinyl transferase
    LYS5 ortholog
    alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase
    holo ACP synthase
    holo-[acyl-carrier-protein] synthase
    NP_056238.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_015423.3 → NP_056238.2  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

      See identical proteins and their annotated locations for NP_056238.2

      Status: REVIEWED

      Source sequence(s)
      AP001001
      Consensus CDS
      CCDS31664.1
      UniProtKB/Swiss-Prot
      B2R6D1, B4DDW7, Q9C068, Q9NRN7, Q9P0Q3, Q9UG80, Q9Y389
      Related
      ENSP00000278618.4, ENST00000278618.9
      Conserved Domains (1) summary
      COG2091
      Location:42 → 208
      Sfp; Phosphopantetheinyl transferase [Coenzyme transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      106077662..106098695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      106082274..106103304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRN7.2 GenPept UniProtKB/Swiss-Prot:Q9NRN7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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