AASS (aminoadipate-semialdehyde synthase)

2014-11-01  

Identity

HGNC
LOCATION
7q31.32
LOCUSID
ALIAS
LKR/SDH,LKRSDH,LORSDH
FUSION GENES

Other Information

Locus ID:

NCBI: 10157
MIM: 605113
HGNC: 17366
Ensembl: ENSG00000008311

Variants:

dbSNP: 10157
ClinVar: 10157
TCGA: ENSG00000008311
COSMIC: AASS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000008311ENST00000358954F8WAH1
ENSG00000008311ENST00000393376Q9UDR5
ENSG00000008311ENST00000393376A4D0W4
ENSG00000008311ENST00000417368Q9UDR5
ENSG00000008311ENST00000417368A4D0W4
ENSG00000008311ENST00000426162H7C0C6
ENSG00000008311ENST00000431170F8WE53

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Metabolic pathwaysKEGGhsa01100
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGhsa_M00032
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGM00032
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Lysine catabolismREACTOMER-HSA-71064
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
105672401999Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
248470042014Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.14
260881402015Response Element Composition Governs Correlations between Binding Site Affinity and Transcription in Glucocorticoid Receptor Feed-forward Loops.12
235704482013Genetic basis of hyperlysinemia.11

Citation

Dessen P

AASS (aminoadipate-semialdehyde synthase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60023/aass