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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: AASS
Protein SuperFamily: Alpha-aminoadipic semialdehyde synthase, mitochondrial
Gene Tree: Aass

Human
homologs
AASS, aminoadipate-semialdehyde synthase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 10157
neXtProt AC: NX_Q9UDR5

Human Synonyms: LKRSDH, LKR/SDH, LORSDH

Human Chr (Location): 7q31.3; chr7:122073544-122144290 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human AASS

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(8) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Aass interacts with 152 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (3 records)
Data Summary: Results (115)    Tissues (113)    Images (11)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 106
RT-PCR 9
cDNA source data(62)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase aass    NEW 
Molecular
reagents
All nucleic(64) cDNA(62) 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 Phenotyping Consortium Status Aass
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/pyridine nucleotide transhydrogenase, NAD(H)-binding domain
InterPro IPR007886 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal
InterPro IPR016040 NAD(P)-binding domain
InterPro IPR005097 Saccharopine dehydrogenase, NADP binding domain
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(32)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory