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

Gene ID: 10157, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (122073549..122144249, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (123389454..123460169, complement)
105.20220307 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. 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
  3. Genetic basis of hyperlysinemia. Houten SM, et al. Orphanet J Rare Dis, 2013 Apr 9. PMID 23570448, Free PMC Article
  4. 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
  5. Response Element Composition Governs Correlations between Binding Site Affinity and Transcription in Glucocorticoid Receptor Feed-forward Loops. Sasse SK, et al. J Biol Chem, 2015 Aug 7. PMID 26088140, Free PMC Article

See all (52) 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)

Genotypes

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 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
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_2023_10

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

    Related
    ENSP00000351834.2, ENST00000358954.6

  3. XM_047419711.1 → XP_047275667.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X3

    UniProtKB/TrEMBL
    A0A7P0T9N4
    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

  2. XM_054356987.1 → XP_054212962.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X2

  3. XM_054356988.1 → XP_054212963.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X3

    UniProtKB/TrEMBL
    A0A7P0T9N4

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

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