AASS Gene

Name	aminoadipate-semialdehyde synthase
Description	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, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Aminoadipate semialdehyde synthase (AASS) is a pivotal bifunctional enzyme that catalyzes the initial two steps of lysine degradation via the saccharopine pathway. In this reaction sequence, the N‐terminal lysine‐ketoglutarate reductase (LKR) domain condenses lysine with α‐ketoglutarate to form saccharopine, and the C‐terminal saccharopine dehydrogenase (SDH) domain subsequently oxidizes saccharopine to yield α‐aminoadipate semialdehyde. In mammals, the AASS enzyme constitutes a “committing step” in hepatic lysine catabolism and—by regulating lysine oxidation—can influence the availability of free lysine to other tissues (for example, affecting milk protein synthesis in dairy cows)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In several plant species the functional ortholog, frequently referred to as LKR/SDH, plays a central role in lysine homeostasis during seed development and in stress responses. Genetic manipulations that down‐regulate plant LKR/SDH activity have been successfully exploited to elevate free lysine levels in cereal grains, thereby improving nutritional quality"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "and have been linked to changes in carbohydrate metabolism and seed protein balance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In arthropods such as ticks, the bifunctional enzyme is expressed throughout various life stages and is particularly important during periods of starvation when it contributes to osmotic regulation and egg development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, in a Drosophila model system a nuclear protein has been shown to upregulate LKR/SDH expression to enhance mitochondrial bioenergetics necessary for macrophage tissue invasion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, evidence from mammalian, plant, and arthropod systems demonstrates that AASS (or its orthologous LKR/SDH enzyme) integrates nutrient availability with developmental and stress‐responsive signals. Its regulation is crucial for controlling lysine catabolism, thereby impacting metabolic flux, the accumulation of lysine and its related metabolites, and ultimately, organismal physiology and productivity.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "H A Tucker, M D Hanigan, J Escobar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hepatic expression of aminoadipate semialdehyde synthase is unchanged by postruminal lysine supply in lactating dairy cows."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Dairy Sci (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3168/jds.2016-10972"}], "href": "https://doi.org/10.3168/jds.2016-10972"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28012632"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28012632"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Qing-Qing Yang, Wai-Han Yu, Hong-Yu Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lysine biofortification in rice by modulating feedback inhibition of aspartate kinase and dihydrodipicolinate synthase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Plant Biotechnol J (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/pbi.13478"}], "href": "https://doi.org/10.1111/pbi.13478"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32945115"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32945115"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Xiaohang Long, Qiaoquan Liu, Manling Chan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Metabolic engineering and profiling of rice with increased lysine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Plant Biotechnol J (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/pbi.12037"}], "href": "https://doi.org/10.1111/pbi.12037"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23279104"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23279104"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Banzragch Battur, Damdinsuren Boldbaatar, Rika Umemiya-Shirafuji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LKR/SDH plays important roles throughout the tick life cycle including a long starvation period."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0007136"}], "href": "https://doi.org/10.1371/journal.pone.0007136"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19774086"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19774086"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Shamsi Emtenani, Elliot T Martin, Attila Gyoergy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Macrophage mitochondrial bioenergetics and tissue invasion are boosted by an Atossa-Porthos axis in Drosophila."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embj.2021109049"}], "href": "https://doi.org/10.15252/embj.2021109049"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35319107"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35319107"}]}]}]}
Synonyms	LORSDH, LKR/SDH, LKRSDH
Proteins	AASS_HUMAN
NCBI Gene ID	10157
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

AASS has 6,073 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 132 datasets.

Click the + buttons to view associations for AASS from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

AASS Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AASS gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of AASS gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of AASS gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of AASS gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of AASS gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AASS gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of AASS gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of AASS gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of AASS gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of AASS gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of AASS gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of AASS gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with AASS protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with AASS gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of AASS gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of AASS gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of AASS gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with AASS gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with AASS gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing AASS protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of AASS gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing AASS protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing AASS protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing AASS protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing AASS protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with AASS protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with AASS protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of AASS gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with AASS gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with AASS gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with AASS gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of AASS protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by AASS gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving AASS gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving AASS gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with AASS gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with AASS gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with AASS gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with AASS gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with AASS gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.