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Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase [ Mus musculus (house mouse) ]

Gene ID: 67618, updated on 2-Nov-2024

Summary

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Official Symbol
Aasdhpptprovided by MGI
Official Full Name
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferaseprovided by MGI
Primary source
MGI:MGI:1914868
See related
Ensembl:ENSMUSG00000025894 AllianceGenome:MGI:1914868
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
LYS2; LYS5; CGI-80; AASD-PPT; 2010309J24Rik; 2810407B07Rik
Summary
Predicted to enable holo-[acyl-carrier-protein] synthase activity and magnesium ion binding activity. Predicted to be involved in lysine biosynthetic process via aminoadipic acid and protein maturation. Predicted to act upstream of with a positive effect on 10-formyltetrahydrofolate catabolic process. Predicted to be active in cytosol. Is expressed in several structures, including early conceptus; heart; and reproductive system. Orthologous to human AASDHPPT (aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in placenta adult (RPKM 4.7), limb E14.5 (RPKM 4.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Aasdhppt in Genome Data Viewer
Location:
9 2.46 cM; 9 A1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (4294793..4309656, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (4294793..4309617, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene aldose reductase pseudogene Neighboring gene STARR-seq mESC enhancer starr_23157 Neighboring gene predicted gene, 53494 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:4309539-4309751 Neighboring gene kelch repeat and BTB (POZ) domain containing 3 Neighboring gene STARR-seq mESC enhancer starr_23158 Neighboring gene STARR-positive B cell enhancer ABC_E2280 Neighboring gene Myb/SANT-like DNA-binding domain containing 4 with coiled-coils Neighboring gene predicted gene, 53495

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873
  2. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article
  3. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article
  4. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
  5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (2) 

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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Homology

Gene Ontology Provided by MGI

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 ISO
Inferred from Sequence Orthology
more info
  
enables holo-[acyl-carrier-protein] synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables magnesium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in 10-formyltetrahydrofolate catabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_positive_effect 10-formyltetrahydrofolate catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in lysine biosynthetic process via aminoadipic acid IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein maturation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein maturation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Names
4'-phosphopantetheinyl transferase
alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase
NP_001313288.1
NP_080552.3
XP_006509940.1
XP_017169024.1
XP_017169025.1
XP_030100387.1

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_001326359.1 → NP_001313288.1  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate acceptor splice site and lacks an internal exon, compared to variant 1. This variant encodes a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK007737, AK008554, AK029523, BB752547
    UniProtKB/Swiss-Prot
    Q9CQF6
    Conserved Domains (1) summary
    COG2091
    Location:32 → 152
    Sfp; Phosphopantetheinyl transferase [Coenzyme transport and metabolism]

  2. NM_026276.3 → NP_080552.3  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase isoform 1

    See identical proteins and their annotated locations for NP_080552.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC115802
    Consensus CDS
    CCDS22794.1
    UniProtKB/Swiss-Prot
    Q5U5W8, Q9CQF6, Q9CU40, Q9D827
    UniProtKB/TrEMBL
    Q05C25
    Related
    ENSMUSP00000053971.8, ENSMUST00000051589.9
    Conserved Domains (2) summary
    COG2091
    Location:42 → 206
    Sfp; Phosphopantetheinyl transferase [Coenzyme transport and metabolism]
    pfam01648
    Location:125 → 204
    ACPS; 4'-phosphopantetheinyl transferase superfamily

RNA

  1. NR_136940.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate, frame-shifting acceptor splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK007737, AK029523, BB752547
    Related
    ENSMUST00000212066.2

  2. NR_136941.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate, frame-shifting acceptor splice site and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK007737, AK031766, BB752547
    Related
    ENSMUST00000212897.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    4294793..4309656 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006509877.5 → XP_006509940.1  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase isoform X2

  2. XM_030244527.2 → XP_030100387.1  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase isoform X1

    Conserved Domains (1) summary
    COG2091
    Location:19 → 109
    Sfp; Phosphopantetheinyl transferase [Coenzyme transport and metabolism]

  3. XM_017313536.3 → XP_017169025.1  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase isoform X3

    Conserved Domains (1) summary
    pfam01648
    Location:1 → 54
    ACPS; 4'-phosphopantetheinyl transferase superfamily

  4. XM_017313535.3 → XP_017169024.1  L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase isoform X3

    Conserved Domains (1) summary
    pfam01648
    Location:1 → 54
    ACPS; 4'-phosphopantetheinyl transferase superfamily
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9CQF6.1 GenPept UniProtKB/Swiss-Prot:Q9CQF6

Gene LinkOut

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