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

Gene ID: 60496, updated on 23-Nov-2021

Summary

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
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

See AASDHPPT in Genome Data Viewer
Location:
11q22.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (106077605..106098695)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (105948389..105969422)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor AMPA type subunit 4 Neighboring gene RNA, U6 small nuclear 277, pseudogene Neighboring gene Myb/SANT DNA binding domain containing 4 with coiled-coils Neighboring gene kelch repeat and BTB domain containing 3 Neighboring gene long intergenic non-protein coding RNA 2719 Neighboring gene uncharacterized LOC101928535

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
involved_in lysine biosynthetic process via aminoadipic acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in pantothenate metabolic process TAS
Traceable Author Statement
more info
 
involved_in protein phosphopantetheinylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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
XP_024304409.1

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_015423.3NP_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
    Q9NRN7
    Related
    ENSP00000278618.4, ENST00000278618.9
    Conserved Domains (1) summary
    COG2091
    Location:42208
    Sfp; Phosphopantetheinyl transferase [Coenzyme transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    106077605..106098695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448641.1XP_024304409.1  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase isoform X1

    Conserved Domains (1) summary
    COG2091
    Location:42135
    Sfp; Phosphopantetheinyl transferase [Coenzyme transport and metabolism]
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