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    AASS aminoadipate-semialdehyde synthase [ Homo sapiens (human) ]

    Gene ID: 10157, updated on 21-Apr-2019

    Summary

    Official Symbol
    AASSprovided by HGNC
    Official Full Name
    aminoadipate-semialdehyde synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:17366
    See related
    Ensembl:ENSG00000008311 MIM:605113
    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
    LKRSDH; LORSDH; LKR/SDH
    Summary
    This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 13.5), liver (RPKM 12.5) and 24 other tissues See more
    Orthologs

    Genomic context

    See AASS in Genome Data Viewer
    Location:
    7q31.32
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (122073544..122144290, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (121713598..121784344, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene polyribonucleotide nucleotidyltransferase 1 pseudogene 2 Neighboring gene protein tyrosine phosphatase receptor type Z1 Neighboring gene RNA, U7 small nuclear 154 pseudogene Neighboring gene tetratricopeptide repeat domain 14 pseudogene Neighboring gene uncharacterized LOC102724527

    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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of aminoadipate-semialdehyde synthase (AASS) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    saccharopine dehydrogenase (NADP+, L-lysine-forming) activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    L-lysine catabolic process to acetyl-CoA via saccharopine IEA
    Inferred from Electronic Annotation
    more info
     
    lysine catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lysine catabolic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    protein tetramerization TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    alpha-aminoadipic semialdehyde synthase, mitochondrial
    Names
    alpha-aminoadipate semialdehyde synthase
    aminoadipic semialdehyde synthase
    lysine-2-oxoglutarate reductase
    lysine-ketoglutarate reductase /saccharopine dehydrogenase
    NP_005754.2
    XP_011514027.1

    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.

    Genomic

    1. NG_008140.2 RefSeqGene

      Range
      5001..75747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005763.4NP_005754.2  alpha-aminoadipic semialdehyde synthase, mitochondrial

      See identical proteins and their annotated locations for NP_005754.2

      Status: REVIEWED

      Source sequence(s)
      AC006020, AF229180, BM669241, DA995180
      Consensus CDS
      CCDS5783.1
      UniProtKB/Swiss-Prot
      Q9UDR5
      UniProtKB/TrEMBL
      A4D0W4
      Related
      ENSP00000403768.2, ENST00000417368.7
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      122073544..122144290 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515725.2XP_011514027.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X1

      Related
      ENSP00000351834.2, ENST00000358954.6
      Conserved Domains (4) summary
      PLN02819
      Location:25884
      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:602883
      Sacchrp_dh_C; Saccharopine dehydrogenase C-terminal domain

    RNA

    1. XR_001744523.1 RNA Sequence

    2. XR_001744519.1 RNA Sequence

    3. XR_001744524.1 RNA Sequence

    4. XR_001744520.1 RNA Sequence

    5. XR_001744521.1 RNA Sequence

    6. XR_001744522.1 RNA Sequence

    7. XR_001744514.1 RNA Sequence

    8. XR_001744515.1 RNA Sequence

    9. XR_242220.3 RNA Sequence

    10. XR_927326.2 RNA Sequence

    11. XR_001744516.1 RNA Sequence

    12. XR_001744517.1 RNA Sequence

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