ARSL Gene

Name arylsulfatase L
Description Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The collection of studies presented covers an exceptionally wide array of molecular pathways—including the regulation of mitochondrial dynamics, RNA processing, proteolytic and apoptotic cascades, inflammatory and immune‐signaling, cellular metabolism, and extracellular matrix remodeling—as they relate to neurological dysfunction, metabolic syndromes, tumor progression, tissue barrier formation, and other pathophysiologic settings."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": " \n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Despite the broad scope of investigation—as exemplified by reports on the extra‐ocular and neurological manifestations observed in OPA1 mutations"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", the mechanistic insights into RNA processing defects arising from reduced expression of the EJC component Y14"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", and the metabolic benefits of manipulating cellular NAD(+) via CD38 inhibition"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", among many others—the provided abstracts do not specifically address or mention “ARSL.” \n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the absence of direct evidence describing the function of ARSL within this body of work, one cannot assign it a role based on these studies alone. Nonetheless, the diverse modes of cellular regulation detailed here underscore the intricate interplay that governs protein homeostasis, signal transduction, and metabolic adaptation in health and disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": " \n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Therefore, while proteins such as OPA1, RBM8A, CD38, and others have been characterized in detail with respect to their contributions to neurological, metabolic, and immunologic processes, the role of ARSL remains undefined within these reports. Future studies will be needed to determine whether ARSL participates in similar regulatory networks or engages in entirely distinct biological functions.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "P Yu-Wai-Man, P G Griffiths, G S Gorman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multi-system neurological disease is common in patients with OPA1 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awq007"}], "href": "https://doi.org/10.1093/brain/awq007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20157015"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20157015"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Cornelis A Albers, Dirk S Paul, Harald Schulze, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.1083"}], "href": "https://doi.org/10.1038/ng.1083"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22366785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22366785"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Carlos Escande, Veronica Nin, Nathan L Price, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Flavonoid apigenin is an inhibitor of the NAD+ ase CD38: implications for cellular NAD+ metabolism, protein acetylation, and treatment of metabolic syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/db12-1139"}], "href": "https://doi.org/10.2337/db12-1139"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23172919"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23172919"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "A M Goldman, E Glasscock, J Yoo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Transl Med (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/scitranslmed.3000289"}], "href": "https://doi.org/10.1126/scitranslmed.3000289"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20368164"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20368164"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Saeid Ghavami, Mehdi Eshragi, Sudharsana R Ande, et al. "}, {"type": "b", "children": [{"type": "t", "text": "S100A8/A9 induces autophagy and apoptosis via ROS-mediated cross-talk between mitochondria and lysosomes that involves BNIP3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/cr.2009.129"}], "href": "https://doi.org/10.1038/cr.2009.129"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19935772"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19935772"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Jean-Pierre Hachem, Mao-Quiang Man, Debra Crumrine, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sustained serine proteases activity by prolonged increase in pH leads to degradation of lipid processing enzymes and profound alterations of barrier function and stratum corneum integrity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.0022-202X.2005.23838.x"}], "href": "https://doi.org/10.1111/j.0022-202X.2005.23838.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16117792"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16117792"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Peter M Elias, Matthias Schmuth "}, {"type": "b", "children": [{"type": "t", "text": "Abnormal skin barrier in the etiopathogenesis of atopic dermatitis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Opin Allergy Clin Immunol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/ACI.0b013e32832e7d36"}], "href": "https://doi.org/10.1097/ACI.0b013e32832e7d36"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19550302"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19550302"}]}]}]}
NCBI Gene ID 415
API
Download Associations
Predicted Functions View ARSL's ARCHS4 Predicted Functions.
Co-expressed Genes View ARSL's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View ARSL's ARCHS4 Predicted Functions.

Functional Associations

ARSL has 1,938 functional associations with biological entities spanning 6 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 37 datasets.

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

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of ARSL gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of ARSL gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CCLE Cell Line Proteomics Cell lines associated with ARSL protein from the CCLE Cell Line Proteomics dataset.
CellMarker Gene-Cell Type Associations cell types associated with ARSL gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of ARSL 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 ARSL gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of ARSL gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing ARSL protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with ARSL protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by ARSL gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Curated Gene-Disease Association Evidence Scores 2025 diseases involving ARSL gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with ARSL 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 ARSL gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with ARSL gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
GO Biological Process Annotations 2023 biological processes involving ARSL gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving ARSL gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2023 cellular components containing ARSL protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing ARSL protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by ARSL gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by ARSL gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of ARSL gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of ARSL gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with ARSL gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of ARSL gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of ARSL gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures gene perturbations changing expression of ARSL gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of ARSL gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
PFOCR Pathway Figure Associations 2023 pathways involving ARSL protein from the PFOCR Pathway Figure Associations 2023 dataset.
Reactome Pathways 2024 pathways involving ARSL protein from the Reactome Pathways 2024 dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of ARSL gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of ARSL gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of ARSL gene from the RummaGEO Gene Perturbation Signatures dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of ARSL gene from the Sci-Plex Drug Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of ARSL 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 ARSL 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 ARSL protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2024 pathways involving ARSL protein from the WikiPathways Pathways 2024 dataset.