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

    Gene ID: 10157, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:17366
    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
    NEW
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    Genomic context

    See AASS in Genome Data Viewer
    Location:
    7q31.32
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (122073549..122144249, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (123389454..123460169, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (121713603..121784303, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene polyribonucleotide nucleotidyltransferase 1 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:121513171-121513672 Neighboring gene protein tyrosine phosphatase receptor type Z1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:121575201-121575702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:121575703-121576202 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:121578112-121578648 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:121578649-121579185 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:121593388-121594061 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:121642332-121642536 Neighboring gene RNA, U7 small nuclear 154 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:121783127-121783632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18577 Neighboring gene uncharacterized LOC102724527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26563 Neighboring gene tetratricopeptide repeat domain 14 pseudogene Neighboring gene ribosomal protein L31 pseudogene 37

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytosol  
    located_in intracellular membrane-bounded organelle  
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    located_in mitochondrion  
    located_in mitochondrion PubMed 
    located_in nucleus  

    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
    saccharopine dehydrogenase (NAD(+), L-glutamate-forming)
    saccharopine dehydrogenase (NADP(+), L-lysine-forming)
    NP_005754.2
    XP_011514027.1
    XP_047275666.1
    XP_047275667.1
    XP_054212961.1
    XP_054212962.1
    XP_054212963.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5042..75742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005763.4 → NP_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
      O95462, Q9UDR5
      UniProtKB/TrEMBL
      A4D0W4
      Related
      ENSP00000403768.2, ENST00000417368.7
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      122073549..122144249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515725.3 → XP_011514027.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      F8WAH1
      Conserved Domains (4) summary
      PLN02819
      Location:25 → 884
      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 → 883
      Sacchrp_dh_C; Saccharopine dehydrogenase C-terminal domain
    2. XM_047419710.1 → XP_047275666.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      F8WAH1
      Related
      ENSP00000351834.2, ENST00000358954.6
    3. XM_047419711.1 → XP_047275667.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9N4, F8WE53
      Related
      ENSP00000505671.1, ENST00000681434.1

    RNA

    1. XR_007059980.1 RNA Sequence

    2. XR_927326.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      123389454..123460169 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356986.1 → XP_054212961.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X1

      UniProtKB/TrEMBL
      F8WAH1
    2. XM_054356987.1 → XP_054212962.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      F8WAH1
    3. XM_054356988.1 → XP_054212963.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9N4, F8WE53

    RNA

    1. XR_008487518.1 RNA Sequence

    2. XR_008487519.1 RNA Sequence

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