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

Gene ID: 60496, updated on 7-Apr-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
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Genomic context

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Location:
11q22.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (106077662..106098695)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (106082274..106103304)
105.20220307 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. 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
  2. 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
  3. 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
  4. Mechanism and substrate recognition of human holo ACP synthase. Bunkoczi G, et al. Chem Biol, 2007 Nov. PMID 18022563, 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 (49) 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)

Genotypes

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_2023_10

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

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