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    Aass aminoadipate-semialdehyde synthase [ Mus musculus (house mouse) ]

    Gene ID: 30956, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Aassprovided by MGI
    Official Full Name
    aminoadipate-semialdehyde synthaseprovided by MGI
    Primary source
    MGI:MGI:1353573
    See related
    Ensembl:ENSMUSG00000029695 AllianceGenome:MGI:1353573
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    LKR; LOR; SDH; Lorsdh; LKR/SDH; LOR/SDH
    Summary
    This gene encodes a bifunctional mitochondrial protein that catalyzes the first two steps in the lysine degradation pathway. The N-terminus contains lysine-ketoglutarate reductase activity and converts lysine to saccharopine, whereas the C-terminus contains saccharopine dehydrogenase activity and converts saccharopine to alpha-aminoadipate semialdehyde. Mutations in a human gene encoding a highly similar protein are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in kidney adult (RPKM 40.6), liver adult (RPKM 30.7) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 A3.1; 6 10.27 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (23072172..23132985, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (23072173..23132986, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 18861 Neighboring gene protein tyrosine phosphatase receptor type Z, polypeptide 1 Neighboring gene STARR-seq mESC enhancer starr_15326 Neighboring gene STARR-seq mESC enhancer starr_15327 Neighboring gene STARR-seq mESC enhancer starr_15328 Neighboring gene STARR-seq mESC enhancer starr_15329 Neighboring gene PRP18 pre-mRNA processing factor 18 homolog pseudogene Neighboring gene Crn, crooked neck-like 1 pseudogene

    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
    • 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. Protein-induced alterations in murine hepatic alpha-aminoadipate delta-semialdehyde synthase activity are mediated posttranslationally. Kiess AS, et al. Nutr Res, 2008 Dec. PMID 19083499
    2. Alpha-aminoadipate delta-semialdehyde synthase mRNA knockdown reduces the lysine requirement of a mouse hepatic cell line. Cleveland BM, et al. J Nutr, 2008 Nov. PMID 18936211
    3. The essential amino acid lysine acts as precursor of glutamate in the mammalian central nervous system. Papes F, et al. FEBS Lett, 2001 Jan 12. PMID 11163791
    4. Nativity and race. Gleiberman L. Hypertension, 1999 Nov. PMID 10567204
    5. Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse. Papes F, et al. Biochem J, 1999 Dec 1. PMID 10567240, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mice receiving the high-protein diet had greater AASS mRNA compared to mice fed the adequate protein diet.
      Title: Protein-induced alterations in murine hepatic alpha-aminoadipate delta-semialdehyde synthase activity are mediated posttranslationally.
    2. These results indicate AASS knockdown decreases the lysine requirement of the cell via a reduction of lysine catabolism through the saccharopine pathway.
      Title: Alpha-aminoadipate delta-semialdehyde synthase mRNA knockdown reduces the lysine requirement of a mouse hepatic cell line.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables saccharopine dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within L-lysine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in lysine biosynthetic process via aminoadipic acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysine catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    alpha-aminoadipic semialdehyde synthase, mitochondrial
    Names
    lysine oxoglutarate reductase
    saccharopine dehydrogenase
    NP_038958.2

    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_013930.4 → NP_038958.2  alpha-aminoadipic semialdehyde synthase, mitochondrial

      See identical proteins and their annotated locations for NP_038958.2

      Status: REVIEWED

      Source sequence(s)
      AC133599, AK149400, CJ074697
      Consensus CDS
      CCDS19937.1
      UniProtKB/Swiss-Prot
      Q99K67, Q9Z1I9
      UniProtKB/TrEMBL
      Q3UEQ9, Q3UWN2
      Related
      ENSMUSP00000031707.8, ENSMUST00000031707.14
      Conserved Domains (4) summary
      PLN02819
      Location:25 → 916
      PLN02819; lysine-ketoglutarate reductase/saccharopine dehydrogenase
      cd12189
      Location:25 → 466
      LKR_SDH_like; bifunctional lysine ketoglutarate reductase /saccharopine dehydrogenase enzyme
      pfam03435
      Location:483 → 598
      Sacchrp_dh_NADP; Saccharopine dehydrogenase NADP binding domain
      pfam16653
      Location:602 → 915
      Sacchrp_dh_C; Saccharopine dehydrogenase C-terminal domain

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      23072172..23132985 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99K67.1 GenPept UniProtKB/Swiss-Prot:Q99K67

    Gene LinkOut

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

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