FUCA1 Gene

Name	fucosidase, alpha-L- 1, tissue
Description	The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n FUCA1 encodes a lysosomal α‐L‐fucosidase that plays a critical role in the regulation of glycoprotein fucosylation by catalyzing the removal of terminal fucose residues from complex glycans. This defucosylation activity is emerging as an important modulator of cellular signaling pathways, particularly in cancer, where FUCA1 is transcriptionally activated by the tumor suppressor p53. p53‐dependent upregulation of FUCA1 leads to decreased fucosylation and reduced activation of growth factor receptors—such as the epidermal growth factor receptor—thereby contributing to the suppression of oncogenic signaling and promoting cell death in response to chemotherapeutic stress."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In several types of cancer, altered FUCA1 expression has been associated with disease progression and metastatic potential; for instance, lower transcript levels or diminished enzyme activity correlate with advanced tumor stages and poorer prognosis in colorectal, breast, and thyroid carcinomas."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": " Conversely, restoration or maintenance of FUCA1 activity can restrict malignant cell behaviors. Moreover, loss‐of‐function mutations in FUCA1 underlie fucosidosis—a lysosomal storage disorder characterized by the accumulation of fucose‐containing glycolipids and glycoproteins—thereby underscoring the enzyme’s essential role in normal glycan turnover."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Issei Ezawa, Yuichiro Sawai, Tatsuya Kawase, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel p53 target gene FUCA1 encodes a fucosidase and regulates growth and survival of cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Sci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cas.12933"}], "href": "https://doi.org/10.1111/cas.12933"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26998741"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26998741"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Alice D Baudot, Diane Crighton, Jim O'Prey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "p53 directly regulates the glycosidase FUCA1 to promote chemotherapy-induced cell death."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Cycle (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/15384101.2016.1191714"}], "href": "https://doi.org/10.1080/15384101.2016.1191714"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27315169"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27315169"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Tzu-Chun Cheng, Shih-Hsin Tu, Li-Ching Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Down-regulation of α-L-fucosidase 1 expression confers inferior survival for triple-negative breast cancer patients by modulating the glycosylation status of the tumor cell surface."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.4238"}], "href": "https://doi.org/10.18632/oncotarget.4238"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26204487"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26204487"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Olalla Otero-Estévez, Mónica Martínez-Fernández, Lorena Vázquez-Iglesias, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Decreased expression of alpha-L-fucosidase gene FUCA1 in human colorectal tumors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms140816986"}], "href": "https://doi.org/10.3390/ijms140816986"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23965968"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23965968"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Shoko Ishida, Kou Kayamori, Kei Sakamoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alpha-L-fucosidase-1 is a diagnostic marker that distinguishes mucoepidermoid carcinoma from squamous cell carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pathol Int (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/pin.12764"}], "href": "https://doi.org/10.1111/pin.12764"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30729618"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30729618"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Nobuo Tsuchida, Masa-Aki Ikeda, Υoshizumu Ιshino, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FUCA1 is induced by wild-type p53 and expressed at different levels in thyroid cancers depending on p53 status."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Oncol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/ijo.2017.3968"}], "href": "https://doi.org/10.3892/ijo.2017.3968"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28440416"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28440416"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Latifa Chkioua, Yessine Amri, Sahli Chaima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genomics (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12920-021-01061-3"}], "href": "https://doi.org/10.1186/s12920-021-01061-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34425818"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34425818"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Shuan-Pei Lin, Jui-Hung Chang, Maria Paez de la Cadena, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation identification and characterization of a Taiwanese patient with fucosidosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10038-007-0136-3"}], "href": "https://doi.org/10.1007/s10038-007-0136-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17427030"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17427030"}]}]}]}
Synonyms	FUCA
Proteins	FUCO_HUMAN
NCBI Gene ID	2517
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FUCA1 has 8,405 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 123 datasets.

Click the + buttons to view associations for FUCA1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

FUCA1 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 FUCA1 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 FUCA1 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 FUCA1 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 FUCA1 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 FUCA1 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 FUCA1 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 FUCA1 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 FUCA1 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 FUCA1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of FUCA1 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 FUCA1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with FUCA1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with FUCA1 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 FUCA1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FUCA1 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 FUCA1 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 FUCA1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with FUCA1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of FUCA1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FUCA1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing FUCA1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with FUCA1 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 FUCA1 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 FUCA1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FUCA1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with FUCA1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with FUCA1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of FUCA1 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 FUCA1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving FUCA1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving FUCA1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with FUCA1 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 FUCA1 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 FUCA1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with FUCA1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at FUCA1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FUCA1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of FUCA1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing FUCA1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with FUCA1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.