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Aliases & Descriptions for AASS
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| LKR/SDH 2, 3 | | LKRSDH 1, 2 | | LORSDH 1, 2 |
| | | Descriptions |
|---|
| alpha-aminoadipate semialdehyde synthase 2 | | aminoadipate-semialdehyde synthase 2 | | aminoadipic semialdehyde synthase 2 | | lysine-2-oxoglutarate reductase 2 | | lysine-ketoglutarate reductase /saccharopine dehydrogenase 2 |
|
| | Search outside databases for aliases for AASS genePrevious GC identifers: GC07M120194 GC07M121256 GC07M121270 GC07M121310 |
Summaries for AASS(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for AASS: This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq] UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5Function: Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectivelyGene Wiki entry for AASS |
Genomic Location for AASS
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the AASS gene 
Entrez Gene cytogenetic band: 7q31.3 Ensembl cytogenetic band: 7q31.32 HGNC cytogenetic band: 7q31.3AASS Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M121503:
(about GC identifiers)
Start:
|
121,503,423 bp from pter |
End:
|
121,571,504 bp from pter |
Size:
|
68,082 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 121,110,861-121,168,545 |
RefSeq DNA sequence:- NC_000007.12 NT_007933.14 NT_079596.2
| Proteins for AASS
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5 (See
protein sequence)Recommended Name: Alpha-aminoadipic semialdehyde synthase, mitochondrial precursor Size: 926 amino acids; 102132 Da
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion (By similarity)
Secondary accessions: O95462REFSEQ proteins: NP_005754.2
ENSEMBL proteins: ENSP00000351834 ENSP00000377040
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for AASS: Assays for AASS: | Protein
Domains/ Families for AASS(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9UDR5
ProtoNet protein and cluster: Q9UDR5 UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5Similarity: In the N-terminal section; belongs to the AlaDH/PNT familySimilarity: In the C-terminal section; belongs to the saccharopine dehydrogenase family | Gene Function for AASS
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005763
Applied Biosystems Silencer® siRNAs for AASS
Sigma-Aldrich siRNA and siRNA Panels for AASS  Sigma-Aldrich shRNA for AASS  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005763                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005763                                  untagged cDNA clone in CMV expression vector: NM_005763 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005763
UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5Function: Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectivelyCatalytic activity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine + 2-oxoglutarate + NADPHCatalytic activity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate + 2-aminoadipate 6-semialdehyde + NADHInduction: Induced by starvation (By similarity)5 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005488 | binding |
IEA | -- | | GO:0009055 | electron carrier activity |
IEA | -- | | GO:0016491 | oxidoreductase activity |
IEA | -- | | GO:0047130 | saccharopine dehydrogenase (NADP+, L-lysine-forming) activity |
IEA | -- | | GO:0047131 | saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity |
NAS | 10775527 | About this table | Pathways & Interactions for AASS
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 2 Sigma-Aldrich "Your Favorite Gene" Pathways for AASS (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 1/6Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 2/6 5 Interacting proteins for AASS (ENSP000003518343) via UniProtKB, MINT, and/or STRINGAbout this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for AASS(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for AASS 10/12 Novoseek chemical compound relationships for AASS gene (see all 12
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| saccharopine |
97.07 |
46 |
9286108 (6), 11080311 (2), 10775527 (2), 17854830 (2) (see all 15) |
| alpha-aminoadipic semialdehyde |
86.73 |
9 |
10775527 (3), 9249048 (1) |
| glyceraldehyde |
67.71 |
3 |
9513410 (1), 2134294 (1), 12355795 (1) |
| lysine |
63.11 |
26 |
11080311 (2), 10775527 (2), 9286108 (2), 18839315 (1) (see all 12) |
| aldose |
50.19 |
2 |
12615520 (1), 1748066 (1) |
| nadh |
44.76 |
8 |
12962626 (2), 8736155 (1), 11371030 (1), 8885129 (1) |
| nad+ |
37.50 |
6 |
11080311 (1), 12962626 (1) |
| fructose |
35.80 |
4 |
12962626 (1), 8885129 (1) |
| glycogen |
8.65 |
1 |
9145586 (1) |
| atp |
8.43 |
4 |
9915670 (2), 15284438 (1) |
About this table
|
Transcripts for AASS(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005763
Sigma-Aldrich siRNA and siRNA Panels for AASS  Sigma-Aldrich shRNA for AASS  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_005763 REFSEQ mRNAs for AASS gene: NM_005763.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005763               OriGene GFP tagged cDNA clone in CMV expression vector: NM_005763                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005763                                  untagged cDNA clone in CMV expression vector: NM_005763  Additional cDNA sequence: AF229180.1 AK023446.1 AK225898.1 AK294326.1 BC144246.1 BC144247.1 9 DOTS entries: DT.97818478 DT.447975 DT.100784090 DT.95261180 DT.92036833 DT.40129587 DT.40274506 DT.91701477 DT.121112877 24/166 AceView cDNA sequences (see all 166
):BM669241 BE465730 AA256200 BE326875 AA729905 BF439626 AI634665 W32719 W20467 AW827094 BF109455 AI365151 AA976207 AI651132 AW611933 BE674228 AI912536 AI917478 AI621212 AW006283 BE466144 AJ007714 AI733187 AA485511
highest scoring ESTs for AASS:AJ007714 AF229180 AI431918 AL699223 AU100512 BX498682 CD654519 CD656282 AA721427 AI022321 Unigene Cluster for AASS: Aminoadipate-semialdehyde synthase Hs.156738 [show with all ESTs]Unigene Representative Sequence: NM_005763
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for AASS (see all 7
)
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 19b | ^ | 20a | · | 20b | ^ | 21a | · | 21b | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | |
| SP1: | |   | |   | |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for AASS
2 Ensembl transcripts including schematic representations: ENST00000358954
ENST00000393376
|
Expression for AASS
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| AASS expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for AASS
1 / 2 / 3 6 probe-sets matching AASS gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: AAAGGCCACA
SOURCE GeneReport for Unigene cluster: Hs.156738
Expression variation in blood from EXPOLDB for AASS UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5Tissue specificity: Expressed in all 16 tissues examined with highest expression in the liver |
Orthologs for AASS
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for AASS gene from 5/18 species (see all 18
)
About this table Species with no ortholog for AASS
ENSEMBL Gene Tree for AASS | Paralogs for AASS(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for AASS(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for AASS (up to first 250kb)
|
Disorders & Mutations for AASS
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 605113 disorders: 238700 268700 UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5
Defects in AASS are the cause of hyperlysinemia [MIM:238700]. Hyperlysinemia is an autosomal recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria3 Novoseek disease relationships for AASS gene
About this table
Human Gene Mutation Database: AASS
|
Medical News for AASS(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for AASS (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/64 PubMed articles for AASS gene (see all 64
): |
Search for AASS
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing AASS
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AASS
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AASS(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=AASS |
|
| | | About This Section
| --
| Services for AASS(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for AASS:

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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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