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Aass aminoadipate-semialdehyde synthase [ Mus musculus (house mouse) ]

Gene ID: 30956, updated on 29-May-2018

Summary

Official Symbol
Aassprovided by MGI
Official Full Name
aminoadipate-semialdehyde synthaseprovided by MGI
Primary source
MGI:MGI:1353573
See related
Ensembl:ENSMUSG00000029695 Vega:OTTMUSG00000023540
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
LKR; LOR; SDH; Lorsdh; LKR/SDH; LOR/SDH
Summary
This gene encodes a bifunctional mitochondrial protein that catalyzes the first two steps in the lysine degradation pathway. The N-terminus contains lysine-ketoglutarate reductase activity and converts lysine to saccharopine, whereas the C-terminus contains saccharopine dehydrogenase activity and converts saccharopine to alpha-aminoadipate semialdehyde. Mutations in a human gene encoding a highly similar protein are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney adult (RPKM 40.6), liver adult (RPKM 30.7) and 4 other tissues See more
Orthologs

Genomic context

See Aass in Genome Data Viewer
Location:
6 A3.1; 6 10.27 cM
Exon count:
24
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (23072173..23132986, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (23022173..23082986, complement)

Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase, receptor type Z, polypeptide 1 Neighboring gene predicted gene, 30493 Neighboring gene predicted gene, 46954 Neighboring gene PRP18 pre-mRNA processing factor 18 homolog pseudogene Neighboring gene Crn, crooked neck-like 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

Pathways from BioSystems

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
catalytic activity IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity IDA
Inferred from Direct Assay
more info
PubMed 
saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ISO
Inferred from Sequence Orthology
more info
 
saccharopine dehydrogenase (NADP+, L-lysine-forming) activity ISO
Inferred from Sequence Orthology
more info
 
saccharopine dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
L-lysine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
lysine biosynthetic process via aminoadipic acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
mitochondrion ISO
Inferred from Sequence Orthology
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
alpha-aminoadipic semialdehyde synthase, mitochondrial
Names
lysine oxoglutarate reductase
saccharopine dehydrogenase
NP_038958.2

NCBI Reference Sequences (RefSeq)

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_013930.4NP_038958.2  alpha-aminoadipic semialdehyde synthase, mitochondrial

    See identical proteins and their annotated locations for NP_038958.2

    Status: REVIEWED

    Source sequence(s)
    AC133599, AK149400, CJ074697
    Consensus CDS
    CCDS19937.1
    UniProtKB/Swiss-Prot
    Q99K67
    UniProtKB/TrEMBL
    Q3UEQ9
    Related
    ENSMUSP00000031707.7, OTTMUSP00000027682, ENSMUST00000031707.13, OTTMUST00000057394
    Conserved Domains (4) summary
    PLN02819
    Location:25916
    PLN02819; lysine-ketoglutarate reductase/saccharopine dehydrogenase
    cd12189
    Location:25466
    LKR_SDH_like; bifunctional lysine ketoglutarate reductase /saccharopine dehydrogenase enzyme
    pfam03435
    Location:483598
    Sacchrp_dh_NADP; Saccharopine dehydrogenase NADP binding domain
    pfam16653
    Location:602915
    Sacchrp_dh_C; Saccharopine dehydrogenase C-terminal domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

    Range
    23072173..23132986 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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