ADSS1 Gene

Name	adenylosuccinate synthase 1
Description	This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ADSS1, a muscle‐specific isozyme of adenylosuccinate synthetase, plays a central role in adenine nucleotide biosynthesis by catalyzing the conversion of inosine monophosphate (IMP) to adenylosuccinate—a key step in the purine nucleotide cycle that provides adenosine monophosphate (AMP) for cellular energy metabolism. This enzyme is predominantly expressed in striated muscles, including both skeletal and cardiac tissues, where it supports the energetic demands of contraction, growth, and remodeling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition, increased ADSS1 expression has been observed in models of cardiac hypertrophy and in electrically stimulated cardiomyocytes; in these contexts, its transcription is regulated via calcineurin/NFAT and GATA4 signaling pathways, thereby linking metabolic flux to the adaptive response of the heart."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, genetically encoded mutations in ADSS1 that diminish its enzymatic activity have been causally associated with autosomal recessive distal myopathies characterized by muscle weakness, histopathological alterations (including nemaline rod formation), and progressive impairment of muscle function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Together, these findings underscore the pivotal role of ADSS1 in maintaining muscle bioenergetics and highlight its importance in muscle physiology, with dysfunction contributing to myopathic disease phenotypes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hyung Jun Park, Young Bin Hong, Young-Chul Choi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.24550"}], "href": "https://doi.org/10.1002/ana.24550"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26506222"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26506222"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Hongying Sun, Nan Li, Xiaojian Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biochem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11010-005-2539-9"}], "href": "https://doi.org/10.1007/s11010-005-2539-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15786719"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15786719"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "H Y Wen, Y Xia, M E Young, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The adenylosuccinate synthetase-1 gene is activated in the hypertrophied heart."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1582-4934.2002.tb00190.x"}], "href": "https://doi.org/10.1111/j.1582-4934.2002.tb00190.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12169208"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12169208"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Y Xia, J B McMillin, A Lewis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Electrical stimulation of neonatal cardiac myocytes activates the NFAT3 and GATA4 pathways and up-regulates the adenylosuccinate synthetase 1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2000)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.275.3.1855"}], "href": "https://doi.org/10.1074/jbc.275.3.1855"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "10636885"}], "href": "https://pubmed.ncbi.nlm.nih.gov/10636885"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Magdalena Mroczek, Hacer Durmus, Sunita Bijarnia-Mahay, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2020.02.006"}], "href": "https://doi.org/10.1016/j.nmd.2020.02.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32331917"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32331917"}]}]}]}
NCBI Gene ID	122622
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ADSS1 has 1,558 functional associations with biological entities spanning 6 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 34 datasets.

Click the + buttons to view associations for ADSS1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ADSS1 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ADSS1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ADSS1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ADSS1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ADSS1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ADSS1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of ADSS1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ADSS1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ADSS1 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 ADSS1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ADSS1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ADSS1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	GO Biological Process Annotations 2023	biological processes involving ADSS1 gene from the curated GO Biological Process Annotations 2023 dataset.
	GO Biological Process Annotations 2025	biological processes involving ADSS1 gene from the curated GO Biological Process Annotations2025 dataset.
	GO Molecular Function Annotations 2023	molecular functions performed by ADSS1 gene from the curated GO Molecular Function Annotations 2023 dataset.
	GO Molecular Function Annotations 2025	molecular functions performed by ADSS1 gene from the curated GO Molecular Function Annotations 2025 dataset.
	GTEx eQTL 2025	SNPs regulating expression of ADSS1 gene from the GTEx eQTL 2025 dataset.
	GTEx Tissue Gene Expression Profiles 2023	tissues with high or low expression of ADSS1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
	GTEx Tissue-Specific Aging Signatures	tissue samples with high or low expression of ADSS1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
	GWAS Catalog SNP-Phenotype Associations 2025	phenotypes associated with ADSS1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
	HuBMAP Azimuth Cell Type Annotations	cell types associated with ADSS1 gene from the HuBMAP Azimuth Cell Type Annotations dataset.
	JASPAR Predicted Human Transcription Factor Targets 2025	transcription factors regulating expression of ADSS1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
	JASPAR Predicted Mouse Transcription Factor Targets 2025	transcription factors regulating expression of ADSS1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
	KEGG Pathways 2026	pathways involving ADSS1 protein from the KEGG Pathways 2026 dataset.
	MoTrPAC Rat Endurance Exercise Training	tissue samples with high or low expression of ADSS1 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
	MW Enzyme Metabolite Associations	interacting metabolites for ADSS1 protein from the MW Gene Metabolite Associations dataset.
	PFOCR Pathway Figure Associations 2023	pathways involving ADSS1 protein from the PFOCR Pathway Figure Associations 2023 dataset.
	PFOCR Pathway Figure Associations 2024	pathways involving ADSS1 protein from the Wikipathways PFOCR 2024 dataset.
	Reactome Pathways 2024	pathways involving ADSS1 protein from the Reactome Pathways 2024 dataset.
	Rummagene Transcription Factor Associations 2026	transcription factors regulating expression of ADSS1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
	RummaGEO Drug Perturbation Signatures	drug perturbations changing expression of ADSS1 gene from the RummaGEO Drug Perturbation Signatures dataset.
	RummaGEO Gene Perturbation Signatures	gene perturbations changing expression of ADSS1 gene from the RummaGEO Gene Perturbation Signatures dataset.
	TISSUES Curated Tissue Protein Expression Evidence Scores 2025	tissues with high expression of ADSS1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
	TISSUES Experimental Tissue Protein Expression Evidence Scores 2025	tissues with high expression of ADSS1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
	TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025	tissues co-occuring with ADSS1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.