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Aass aminoadipate-semialdehyde synthase [ Rattus norvegicus (Norway rat) ]

Gene ID: 296925, updated on 5-Mar-2024

Summary

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Official Symbol
Aassprovided by RGD
Official Full Name
aminoadipate-semialdehyde synthaseprovided by RGD
Primary source
RGD:1310811
See related
Ensembl:ENSRNOG00000039494 AllianceGenome:RGD:1310811
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity. Predicted to be involved in lysine biosynthetic process via aminoadipic acid. Predicted to act upstream of or within L-lysine catabolic process. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in hyperlysinemia. Orthologous to human AASS (aminoadipate-semialdehyde synthase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Kidney (RPKM 1136.0) and Liver (RPKM 851.7) See more
Orthologs
human mouse all
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Genomic context

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Location:
4q22
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (52572146..52628811, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (51606461..51663136, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (50152005..50208935, complement)

Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene DExD-box helicase 50, pseudogene 1 Neighboring gene protein tyrosine phosphatase, receptor type Z1 Neighboring gene ribosomal protein S3, pseudogene 7 Neighboring gene 60S ribosomal protein L27 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. 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
  2. Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse. Papes F, et al. Biochem J, 1999 Dec 1. PMID 10567240, Free PMC Article
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity IEA
Inferred from Electronic Annotation
more info
  
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ISO
Inferred from Sequence Orthology
more info
  
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity IEA
Inferred from Electronic Annotation
more info
  
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity ISO
Inferred from Sequence Orthology
more info
  
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables saccharopine dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within L-lysine catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in L-lysine catabolic process to acetyl-CoA via saccharopine IEA
Inferred from Electronic Annotation
more info
  
involved_in biological_process ND
No biological Data available
more info
  
involved_in lysine biosynthetic process via aminoadipic acid IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lysine catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in lysine catabolic process 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 intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
alpha-aminoadipic semialdehyde synthase, mitochondrial
Names
LKR/SDH
NP_001094433.1
XP_038963199.1

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.

mRNA and Protein(s)

  1. NM_001100963.1 → NP_001094433.1  alpha-aminoadipic semialdehyde synthase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001094433.1

    Status: PROVISIONAL

    Source sequence(s)
    BC128771
    UniProtKB/Swiss-Prot
    A2VCW9
    UniProtKB/TrEMBL
    D4ACE9
    Related
    ENSRNOP00000082580.1, ENSRNOT00000103498.1
    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_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086022.1 Reference GRCr8

    Range
    52572146..52628811 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039107271.2 → XP_038963199.1  alpha-aminoadipic semialdehyde synthase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A8I5ZV58, D4ACE9
    Conserved Domains (2) 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2VCW9.1 GenPept UniProtKB/Swiss-Prot:A2VCW9

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous