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    Aass aminoadipate-semialdehyde synthase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 296925, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Aassprovided by RGD
    Official Full Name
    aminoadipate-semialdehyde synthaseprovided by RGD
    Primary source
    RGD:1310811
    See related
    Ensembl:ENSRNOG00000039494 AllianceGenome:RGD:1310811
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity. Predicted to be involved in lysine biosynthetic process via aminoadipic acid. Predicted to act upstream of or within L-lysine catabolic process. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in hyperlysinemia. Orthologous to human AASS (aminoadipate-semialdehyde synthase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Kidney (RPKM 1136.0) and Liver (RPKM 851.7) See more
    Orthologs
    human mouse all
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    Genomic context

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    See Aass in Genome Data Viewer
    Location:
    4q22
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (52572146..52628811, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (51606461..51663136, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (50152005..50208935, complement)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene DExD-box helicase 50, pseudogene 1 Neighboring gene protein tyrosine phosphatase, receptor type Z1 Neighboring gene ribosomal protein S3, pseudogene 7 Neighboring gene 60S ribosomal protein L27 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. Markovitz PJ, et al. J Biol Chem, 1984 Oct 10. PMID 6434529
    2. 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
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity ISS
    Inferred from Sequence or Structural Similarity
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in L-lysine catabolic process to acetyl-CoA via saccharopine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    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
    		  
    involved_in lysine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    alpha-aminoadipic semialdehyde synthase, mitochondrial
    Names
    LKR/SDH
    NP_001094433.1
    XP_038963199.1

    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_001100963.1 → NP_001094433.1  alpha-aminoadipic semialdehyde synthase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001094433.1

      Status: PROVISIONAL

      Source sequence(s)
      BC128771
      UniProtKB/Swiss-Prot
      A2VCW9
      UniProtKB/TrEMBL
      D4ACE9
      Related
      ENSRNOP00000082580.1, ENSRNOT00000103498.1
      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_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086022.1 Reference GRCr8

      Range
      52572146..52628811 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039107271.2 → XP_038963199.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZV58, D4ACE9
      Conserved Domains (2) 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
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2VCW9.1 GenPept UniProtKB/Swiss-Prot:A2VCW9

    Gene LinkOut

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