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AASS (aminoadipate-semialdehyde synthase)

Identity

Alias_symbol (synonym)LORSDH
LKRSDH
Other aliasLKR/SDH
HGNC (Hugo) AASS
LocusID (NCBI) 10157
Atlas_Id 60023
Location 7q31.32  [Link to chromosome band 7q31]
Location_base_pair Starts at 122073544 and ends at 122144290 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TLR8-AS1 (Xp22.2) / AASS (7q31.32)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AASS   17366
Cards
Entrez_Gene (NCBI)AASS  10157  aminoadipate-semialdehyde synthase
AliasesLKR/SDH; LKRSDH; LORSDH
GeneCards (Weizmann)AASS
Ensembl hg19 (Hinxton)ENSG00000008311 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000008311 [Gene_View]  chr7:122073544-122144290 [Contig_View]  AASS [Vega]
ICGC DataPortalENSG00000008311
TCGA cBioPortalAASS
AceView (NCBI)AASS
Genatlas (Paris)AASS
WikiGenes10157
SOURCE (Princeton)AASS
Genetics Home Reference (NIH)AASS
Genomic and cartography
GoldenPath hg38 (UCSC)AASS  -     chr7:122073544-122144290 -  7q31.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AASS  -     7q31.32   [Description]    (hg19-Feb_2009)
EnsemblAASS - 7q31.32 [CytoView hg19]  AASS - 7q31.32 [CytoView hg38]
Mapping of homologs : NCBIAASS [Mapview hg19]  AASS [Mapview hg38]
OMIM238700   268700   605113   
Gene and transcription
Genbank (Entrez)AF229180 AJ007714 AK023446 AK225898 AK294326
RefSeq transcript (Entrez)NM_005763
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AASS
Cluster EST : UnigeneHs.156738 [ NCBI ]
CGAP (NCI)Hs.156738
Alternative Splicing GalleryENSG00000008311
Gene ExpressionAASS [ NCBI-GEO ]   AASS [ EBI - ARRAY_EXPRESS ]   AASS [ SEEK ]   AASS [ MEM ]
Gene Expression Viewer (FireBrowse)AASS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10157
GTEX Portal (Tissue expression)AASS
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UDR5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UDR5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UDR5
Splice isoforms : SwissVarQ9UDR5
Catalytic activity : Enzyme1.5.1.8 [ Enzyme-Expasy ]   1.5.1.81.5.1.8 [ IntEnz-EBI ]   1.5.1.8 [ BRENDA ]   1.5.1.8 [ KEGG ]   
PhosPhoSitePlusQ9UDR5
Domains : Interpro (EBI)AlaDH/PNT_N    AlaDH/PNT_NAD(H)-bd    NAD(P)-bd_dom    Sacchrp_dh_C    Sacchrp_dh_NADP   
Domain families : Pfam (Sanger)AlaDh_PNT_N (PF05222)    Sacchrp_dh_C (PF16653)    Sacchrp_dh_NADP (PF03435)   
Domain families : Pfam (NCBI)pfam05222    pfam16653    pfam03435   
Domain families : Smart (EMBL)AlaDh_PNT_C (SM01002)  AlaDh_PNT_N (SM01003)  
Conserved Domain (NCBI)AASS
DMDM Disease mutations10157
Blocks (Seattle)AASS
SuperfamilyQ9UDR5
Human Protein AtlasENSG00000008311
Peptide AtlasQ9UDR5
HPRD05489
IPIIPI00033217   IPI00927017   IPI00926352   IPI00926587   
Protein Interaction databases
DIP (DOE-UCLA)Q9UDR5
IntAct (EBI)Q9UDR5
FunCoupENSG00000008311
BioGRIDAASS
STRING (EMBL)AASS
ZODIACAASS
Ontologies - Pathways
QuickGOQ9UDR5
Ontology : AmiGOmitochondrion  mitochondrion  mitochondrial matrix  lysine catabolic process  lysine catabolic process  L-lysine catabolic process to acetyl-CoA via saccharopine  intracellular membrane-bounded organelle  saccharopine dehydrogenase (NADP+, L-lysine-forming) activity  saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity  saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity  protein tetramerization  oxidation-reduction process  
Ontology : EGO-EBImitochondrion  mitochondrion  mitochondrial matrix  lysine catabolic process  lysine catabolic process  L-lysine catabolic process to acetyl-CoA via saccharopine  intracellular membrane-bounded organelle  saccharopine dehydrogenase (NADP+, L-lysine-forming) activity  saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity  saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity  protein tetramerization  oxidation-reduction process  
Pathways : KEGGLysine degradation   
NDEx NetworkAASS
Atlas of Cancer Signalling NetworkAASS
Wikipedia pathwaysAASS
Orthology - Evolution
OrthoDB10157
GeneTree (enSembl)ENSG00000008311
Phylogenetic Trees/Animal Genes : TreeFamAASS
HOVERGENQ9UDR5
HOGENOMQ9UDR5
Homologs : HomoloGeneAASS
Homology/Alignments : Family Browser (UCSC)AASS
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAASS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AASS
dbVarAASS
ClinVarAASS
1000_GenomesAASS 
Exome Variant ServerAASS
ExAC (Exome Aggregation Consortium)AASS (select the gene name)
Genetic variants : HAPMAP10157
Genomic Variants (DGV)AASS [DGVbeta]
DECIPHERAASS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAASS 
Mutations
ICGC Data PortalAASS 
TCGA Data PortalAASS 
Broad Tumor PortalAASS
OASIS PortalAASS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAASS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAASS
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch AASS
DgiDB (Drug Gene Interaction Database)AASS
DoCM (Curated mutations)AASS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AASS (select a term)
intoGenAASS
Cancer3DAASS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM238700    268700    605113   
Orphanet3354    3353   
MedgenAASS
Genetic Testing Registry AASS
NextProtQ9UDR5 [Medical]
TSGene10157
GENETestsAASS
Target ValidationAASS
Huge Navigator AASS [HugePedia]
snp3D : Map Gene to Disease10157
BioCentury BCIQAASS
ClinGenAASS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10157
Chemical/Pharm GKB GenePA24369
Clinical trialAASS
Miscellaneous
canSAR (ICR)AASS (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAASS
EVEXAASS
GoPubMedAASS
iHOPAASS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:00:37 CEST 2017

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