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; chr7:121713598-121784344 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human AASS

Alleles and phenotypes

All alleles(10) : Targeted(2) Gene trapped(8)

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	generation of precursor metabolites and energy, L-lysine catabolic process, ...
Component	cytoplasm, intracellular membrane-bounded organelle, ...
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 Type	Results
RNA in situ	106
RT-PCR	9

cDNA source data(61)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(63) cDNA(61) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000023540 (Evidence)
Ensembl Gene Model	ENSMUSG00000029695 (Evidence)
Entrez Gene	30956 (Evidence)
UniGene	18651
DFCI	TC1578026
DoTS	DT.101734974, DT.490145
NIA Mouse Gene Index	U027077
EC	1.5.1.8, 1.5.1.9
Consensus CDS Project	CCDS19937.1
International Mouse Knockout Project Status	Aass

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023540	VEGA Gene Model | MGI Sequence Detail	60814	C57BL/6J
transcript	OTTMUST00000057394	VEGA | MGI Sequence Detail	3701	Not Applicable
polypeptide	OTTMUSP00000027682	VEGA | MGI Sequence Detail	926	Not Applicable

All sequences(35) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(251 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)