Sign in to NCBI

Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

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

    Gene ID: 10157, updated on 22-May-2013
    Official Symbol
    AASSprovided by HGNC
    Official Full Name
    aminoadipate-semialdehyde synthaseprovided by HGNC
    Primary source
    HGNC:17366
    See related
    HPRD:05489; 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]
    Location :
    7q31.3
    Sequence :
    Chromosome: 7; NC_000007.13 (121713598..121784344, complement)
    See AASS in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene polyribonucleotide nucleotidyltransferase 1 pseudogene 2 Neighboring gene protein tyrosine phosphatase, receptor-type, Z polypeptide 1 Neighboring gene tetratricopeptide repeat domain 14 pseudogene Neighboring gene ribosomal protein L31 pseudogene 37

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624.
    4. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. Giannone RJ, et al. PLoS One, 2010 Aug 25. PMID 20811636.
    5. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. Arbuckle MI, et al. EMBO Rep, 2010 Jun. PMID 20467438.

    See all (18) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    2. 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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:115459 BioGRID:199230 Dlg4    BioGRID  PubMed Protein-peptide 
    BioGRID:115459 BioGRID:109622 ICT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115459 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115459 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115459 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity EXP
    Inferred from Experiment
    more info
    		  
    saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    saccharopine dehydrogenase (NADP+, L-lysine-forming) activity EXP
    Inferred from Experiment
    more info
    		  
    Process Evidence Code Pubs
    L-lysine catabolic process to acetyl-CoA via saccharopine IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular nitrogen compound metabolic process TAS
    Traceable Author Statement
    more info
    		  
    lysine catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    lysine catabolic process TAS
    Traceable Author Statement
    more info
    		  
    protein tetramerization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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 
    Preferred Names
    alpha-aminoadipic semialdehyde synthase, mitochondrial
    Names
    alpha-aminoadipic semialdehyde synthase, mitochondrial
    lysine-2-oxoglutarate reductase
    aminoadipic semialdehyde synthase
    alpha-aminoadipate semialdehyde synthase
    lysine-ketoglutarate reductase /saccharopine dehydrogenase
    NP_005754.2

    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_005763.3 → NP_005754.2  alpha-aminoadipic semialdehyde synthase, mitochondrial

      Status: REVIEWED

      Source sequence(s)
      AC006020, AF229180, BM669241, DA995180
      Consensus CDS
      CCDS5783.1
      UniProtKB/TrEMBL
      A4D0W4
      UniProtKB/Swiss-Prot
      Q9UDR5
      Conserved Domains (4) summary
      pfam01262
      Location:197 – 399
      Blast Score: 248
      AlaDh_PNT_C; Alanine dehydrogenase/PNT, C-terminal domain
      smart01002
      Location:197 – 385
      Blast Score: 223
      AlaDh_PNT_C; Alanine dehydrogenase/PNT, C-terminal domain
      pfam03435
      Location:483 – 916
      Blast Score: 733
      Saccharop_dh; Saccharopine dehydrogenase
      pfam05222
      Location:27 – 157
      Blast Score: 276
      AlaDh_PNT_N; Alanine dehydrogenase/PNT, N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 Primary Assembly

      Range
      121713598..121784344, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      116077048..116147810, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      121108272..121179018, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      125062412..125133159, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AACC02000001.1 (6307440..6378186) None
    genomic ABBA01057750.1 (150385..221147) None
    genomic AC006020.2 AAF03526.1
    genomic AMYH01017898.1 (233339..304086) None
    genomic CH236947.1 EAL24343.1
    genomic CH471070.1 EAW83564.1
      EAW83565.1
    mRNA AF229180.1 AAF44328.1
    mRNA AJ007714.2 CAA07619.2
    mRNA AK023446.1 BAG51195.1
    mRNA AK225898.1 None
    mRNA AK294326.1 BAG57598.1
    mRNA BC144246.1 None
    mRNA BC144247.1 None
    mRNA BM669241.1 None
    mRNA DA995180.1 None
    other-genetic BC156456.1 AAI56457.1
    other-genetic BC172503.1 AAI72503.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UDR5.1 GenPept UniProtKB/Swiss-Prot:Q9UDR5

    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...