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

    Gene ID: 10157, updated on 9-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Sacksteder KA, et al. Am J Hum Genet, 2000 Jun. PMID 10775527, Free PMC Article
    2. Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1. Leandro J, et al. Open Biol, 2022 Sep. PMID 36128717, Free PMC Article
    3. 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
    4. Genetic basis of hyperlysinemia. Houten SM, et al. Orphanet J Rare Dis, 2013 Apr 9. PMID 23570448, Free PMC Article
    5. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Houten SM, et al. Hum Mol Genet, 2014 Sep 15. PMID 24847004

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GR and KLF15 physically interact via low affinity GR binding sites within glucocorticoid response elements (GREs) for PRODH and AASS that contribute to combinatorial regulation with KLF15.
      Title: Response Element Composition Governs Correlations between Binding Site Affinity and Transcription in Glucocorticoid Receptor Feed-forward Loops.
    2. Mitochondrial NADPH is crucial for AASS function
      Title: Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
    3. Hyperlysinemia is caused by mutations in AASS
      Title: Genetic basis of hyperlysinemia.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. Isolation and characterization of the mouse ortholog.
      Title: Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hyperlysinemia
    MedGen: C0268553 OMIM: 238700 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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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 GOA

    Function Evidence Code Pubs
    enables histone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables saccharopine dehydrogenase (NAD+, L-lysine-forming) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables saccharopine dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-lysine catabolic process to acetyl-CoA via saccharopine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysine biosynthetic process via aminoadipic acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysine catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II 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 cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    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)

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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.

    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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UDR5.1 GenPept UniProtKB/Swiss-Prot:Q9UDR5

    Gene LinkOut

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

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