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Aass
Gene Detail
 Symbol
Name
ID
Aass
aminoadipate-semialdehyde synthase
MGI:1353573
Synonyms Lorsdh, LOR/SDH
Feature Type protein coding gene
Genetic Map
Chromosome 6
10.27 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr6:23072173-23132986 bp, - strand
From VEGA annotation of GRCm38

  60814 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4212  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: Alpha-aminoadipic semialdehyde synthase, mitochondrial
Gene Tree: Aass

Human
homologs
Human Homolog AASS, aminoadipate-semialdehyde synthase
NCBI Gene ID 10157
neXtProt AC  NX_Q9UDR5
Human Synonyms  LKRSDH, LKR/SDH, LORSDH
Human Chr (Location)  7q31.3; chr7:122073544-122144290 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human AASS
Alleles
and
phenotypes
All alleles(10) : Gene trapped(8) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process generation of precursor metabolites and energy, L-lysine catabolic process, ...
Component intracellular membrane-bounded organelle, mitochondrion
Function catalytic activity, oxidoreductase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (115)    Tissues (113)    Images (11)
Theiler Stages: 21, 22, 23, 25, 26, 28
Assay TypeResults
RNA in situ 106
RT-PCR 9
cDNA source data(62)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(64) cDNA(62) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000023540 (Evidence)
Ensembl Gene ModelENSMUSG00000029695 (Evidence)
Entrez Gene30956 (Evidence)
UniGene18651
DFCITC1578026
DoTSDT.101734974, DT.490145
NIA Mouse Gene IndexU027077
EC1.5.1.8, 1.5.1.9
Consensus CDS ProjectCCDS19937.1
International Mouse Knockout Project StatusAass
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023540 VEGA Gene Model | MGI Sequence Detail 60814 C57BL/6J ±  kb
transcript OTTMUST00000057394 VEGA | MGI Sequence Detail 3701 Not Applicable 
polypeptide OTTMUSP00000027682 VEGA | MGI Sequence Detail 926 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(2) UniProt(4)
Polymorphisms SNPs within 2kb(472 from dbSNP Build 137)    SNPs within 2kb including multiple locations(474)
Protein-related
information
ResourceIDDescription
InterPro IPR007698 Alanine dehydrogenase/PNT, NAD(H)-binding domain
InterPro IPR007886 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal
InterPro IPR016040 NAD(P)-binding domain
InterPro IPR005097 Saccharopine dehydrogenase / Homospermidine synthase
Protein Ontology PR:000003532 alpha-aminoadipic semialdehyde synthase, mitochondrial
References (Earliest) J:59042 Papes F, et al., Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse. Biochem J. 1999 Dec 1;344 Pt 2:555-63
(Latest) J:182258 Taher L, et al., Global gene expression analysis of murine limb development. PLoS One. 2011;6(12):e28358
All references(34)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory