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

    Gene ID: 30956, updated on 3-Feb-2019

    Summary

    Official Symbol
    Aassprovided by MGI
    Official Full Name
    aminoadipate-semialdehyde synthaseprovided by MGI
    Primary source
    MGI:MGI:1353573
    See related
    Ensembl:ENSMUSG00000029695
    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

    Genomic context

    See Aass in Genome Data Viewer
    Location:
    6 A3.1; 6 10.27 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (23072173..23132986, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (23022173..23082986, complement)

    Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase, receptor type Z, polypeptide 1 Neighboring gene predicted gene, 30493 Neighboring gene predicted gene, 46954 Neighboring gene PRP18 pre-mRNA processing factor 18 homolog pseudogene Neighboring gene Crn, crooked neck-like 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_013930.4NP_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
      UniProtKB/TrEMBL
      Q3UEQ9
      Related
      ENSMUSP00000031707.7, ENSMUST00000031707.13
      Conserved Domains (4) summary
      PLN02819
      Location:25916
      PLN02819; lysine-ketoglutarate reductase/saccharopine dehydrogenase
      cd12189
      Location:25466
      LKR_SDH_like; bifunctional lysine ketoglutarate reductase /saccharopine dehydrogenase enzyme
      pfam03435
      Location:483598
      Sacchrp_dh_NADP; Saccharopine dehydrogenase NADP binding domain
      pfam16653
      Location:602915
      Sacchrp_dh_C; Saccharopine dehydrogenase C-terminal domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

      Range
      23072173..23132986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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