Property Summary

NCBI Gene PubMed Count 16
PubMed Score 29.63
PubTator Score 12.87

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
malignant mesothelioma -1.500 1.4e-06
astrocytic glioma 2.300 1.1e-02
ependymoma 1.800 3.6e-02
oligodendroglioma 1.300 2.2e-02
psoriasis 1.800 1.1e-124
glioblastoma multiforme 1.300 8.9e-19
primitive neuroectodermal tumor 1.200 1.4e-03
intraductal papillary-mucinous carcinoma... -1.300 2.8e-02
intraductal papillary-mucinous neoplasm ... -1.700 2.3e-02
lung cancer -3.600 4.9e-06
Breast cancer -2.900 2.8e-02
pilocytic astrocytoma 1.400 1.8e-05
ductal carcinoma in situ -1.200 2.4e-04
invasive ductal carcinoma -1.800 6.0e-04
acute myeloid leukemia -1.200 4.9e-02
ovarian cancer -1.700 1.7e-08

Synonym

Accession Q9UDR5 O95462
Symbols LKRSDH
LORSDH
LKR/SDH

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (6)

PMID Text
26088140 GR and KLF15 physically interact via low affinity GR binding sites within glucocorticoid response elements (GREs) for PRODH and AASS that contribute to combinatorial regulation with KLF15.
24847004 Mitochondrial NADPH is crucial for AASS function
23570448 Hyperlysinemia is caused by mutations in AASS
20877624 Observational study of gene-disease association. (HuGE Navigator)
18976975 Knockdown of aminoadipate-semialdehyde synthase (AASS) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
10567240 Isolation and characterization of the mouse ortholog.

AA Sequence

MLQVHRTGLGRLGVSLSKGLHHKAVLAVRREDVNAWERRAPLAPKHIKGITNLGYKVLIQPSNRRAIHDK      1 - 70
DYVKAGGILQEDISEACLILGVKRPPEEKLMSRKTYAFFSHTIKAQEANMGLLDEILKQEIRLIDYEKMV     71 - 140
DHRGVRVVAFGQWAGVAGMINILHGMGLRLLALGHHTPFMHIGMAHNYRNSSQAVQAVRDAGYEISLGLM    141 - 210
PKSIGPLTFVFTGTGNVSKGAQAIFNELPCEYVEPHELKEVSQTGDLRKVYGTVLSRHHHLVRKTDAVYD    211 - 280
PAEYDKHPERYISRFNTDIAPYTTCLINGIYWEQNTPRLLTRQDAQSLLAPGKFSPAGVEGCPALPHKLV    281 - 350
AICDISADTGGSIEFMTECTTIEHPFCMYDADQHIIHDSVEGSGILMCSIDNLPAQLPIEATECFGDMLY    351 - 420
PYVEEMILSDATQPLESQNFSPVVRDAVITSNGTLPDKYKYIQTLRESRERAQSLSMGTRRKVLVLGSGY    421 - 490
ISEPVLEYLSRDGNIEITVGSDMKNQIEQLGKKYNINPVSMDICKQEEKLGFLVAKQDLVISLLPYVLHP    491 - 560
LVAKACITNKVNMVTASYITPALKELEKSVEDAGITIIGELGLDPGLDHMLAMETIDKAKEVGATIESYI    561 - 630
SYCGGLPAPEHSNNPLRYKFSWSPVGVLMNVMQSATYLLDGKVVNVAGGISFLDAVTSMDFFPGLNLEGY    631 - 700
PNRDSTKYAEIYGISSAHTLLRGTLRYKGYMKALNGFVKLGLINREALPAFRPEANPLTWKQLLCDLVGI    701 - 770
SPSSEHDVLKEAVLKKLGGDNTQLEAAEWLGLLGDEQVPQAESILDALSKHLVMKLSYGPEEKDMIVMRD    771 - 840
SFGIRHPSGHLEHKTIDLVAYGDINGFSAMAKTVGLPTAMAAKMLLDGEIGAKGLMGPFSKEIYGPILER    841 - 910
IKAEGIIYTTQSTIKP                                                          911 - 926
//

Text Mined References (18)

PMID Year Title
26088140 2015 Response Element Composition Governs Correlations between Binding Site Affinity and Transcription in Glucocorticoid Receptor Feed-forward Loops.
24847004 2014 Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23570448 2013 Genetic basis of hyperlysinemia.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10775527 2000 Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
10567240 1999 Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse.
9847074 1998 Toward a complete human genome sequence.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
6434529 1984 Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities.