Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2517
Gene name Gene Name - the full gene name approved by the HGNC.	Alpha-L-fucosidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FUCA1
Synonyms (NCBI Gene) Gene synonyms aliases	FUCA
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.11
Summary Summary of gene provided in NCBI Entrez Gene.	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 disea

Show/Hide all(17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80358195	C>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained
rs80358196	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, upstream transcript variant, coding sequence variant
rs80358197	C>T	Pathogenic	Coding sequence variant, stop gained
rs80358198	G>A,T	Benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs80358199	A>C	Pathogenic	Missense variant, coding sequence variant
rs118204450	G>A	Pathogenic	Stop gained, coding sequence variant
rs189315801	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs587779398	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs587779399	G>A	Pathogenic	Stop gained, coding sequence variant
rs753232669	C>A,G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs781230182	A>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, 5 prime UTR variant
rs794727774	C>T	Pathogenic	Coding sequence variant, stop gained
rs864309551	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1057521087	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557510081	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1570679652	C>T	Pathogenic	Splice donor variant
rs1570692560	AACCAGGCCG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant

Show/Hide all(128)

miRTarBase ID	miRNA	Experiments	Reference
MIRT727636	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727635	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727634	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727632	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727633	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1006087	hsa-miR-1208	CLIP-seq
MIRT1006088	hsa-miR-1256	CLIP-seq
MIRT1006089	hsa-miR-181a	CLIP-seq
MIRT1006090	hsa-miR-181b	CLIP-seq
MIRT1006091	hsa-miR-181c	CLIP-seq
MIRT1006092	hsa-miR-181d	CLIP-seq
MIRT1006093	hsa-miR-2278	CLIP-seq
MIRT1006094	hsa-miR-23a	CLIP-seq
MIRT1006095	hsa-miR-23b	CLIP-seq
MIRT1006096	hsa-miR-23c	CLIP-seq
MIRT1006097	hsa-miR-30a	CLIP-seq
MIRT1006098	hsa-miR-30b	CLIP-seq
MIRT1006099	hsa-miR-30c	CLIP-seq
MIRT1006100	hsa-miR-30d	CLIP-seq
MIRT1006101	hsa-miR-30e	CLIP-seq
MIRT1006102	hsa-miR-3164	CLIP-seq
MIRT1006103	hsa-miR-34c-3p	CLIP-seq
MIRT1006104	hsa-miR-3607-3p	CLIP-seq
MIRT1006105	hsa-miR-3667-3p	CLIP-seq
MIRT1006106	hsa-miR-3910	CLIP-seq
MIRT1006107	hsa-miR-4262	CLIP-seq
MIRT1006108	hsa-miR-4468	CLIP-seq
MIRT1006109	hsa-miR-4484	CLIP-seq
MIRT1006110	hsa-miR-4760-5p	CLIP-seq
MIRT1006111	hsa-miR-500a	CLIP-seq
MIRT1006112	hsa-miR-548an	CLIP-seq
MIRT1006113	hsa-miR-633	CLIP-seq
MIRT1006114	hsa-miR-664	CLIP-seq
MIRT1006087	hsa-miR-1208	CLIP-seq
MIRT1006097	hsa-miR-30a	CLIP-seq
MIRT1006098	hsa-miR-30b	CLIP-seq
MIRT1006099	hsa-miR-30c	CLIP-seq
MIRT1006100	hsa-miR-30d	CLIP-seq
MIRT1006101	hsa-miR-30e	CLIP-seq
MIRT1006103	hsa-miR-34c-3p	CLIP-seq
MIRT1006104	hsa-miR-3607-3p	CLIP-seq
MIRT1006110	hsa-miR-4760-5p	CLIP-seq
MIRT2231770	hsa-miR-579	CLIP-seq
MIRT1006113	hsa-miR-633	CLIP-seq
MIRT1006114	hsa-miR-664	CLIP-seq
MIRT1006087	hsa-miR-1208	CLIP-seq
MIRT1006097	hsa-miR-30a	CLIP-seq
MIRT1006098	hsa-miR-30b	CLIP-seq
MIRT1006099	hsa-miR-30c	CLIP-seq
MIRT1006100	hsa-miR-30d	CLIP-seq
MIRT1006101	hsa-miR-30e	CLIP-seq
MIRT1006103	hsa-miR-34c-3p	CLIP-seq
MIRT1006104	hsa-miR-3607-3p	CLIP-seq
MIRT1006110	hsa-miR-4760-5p	CLIP-seq
MIRT1006088	hsa-miR-1256	CLIP-seq
MIRT2535778	hsa-miR-1273g	CLIP-seq
MIRT2535779	hsa-miR-1293	CLIP-seq
MIRT2535780	hsa-miR-133a	CLIP-seq
MIRT2535781	hsa-miR-133b	CLIP-seq
MIRT2535782	hsa-miR-154	CLIP-seq
MIRT2535783	hsa-miR-3121-3p	CLIP-seq
MIRT2535784	hsa-miR-3129-3p	CLIP-seq
MIRT2535785	hsa-miR-3148	CLIP-seq
MIRT1006102	hsa-miR-3164	CLIP-seq
MIRT2535786	hsa-miR-326	CLIP-seq
MIRT2535787	hsa-miR-330-5p	CLIP-seq
MIRT2535788	hsa-miR-34b	CLIP-seq
MIRT2535789	hsa-miR-361-5p	CLIP-seq
MIRT2535790	hsa-miR-3662	CLIP-seq
MIRT1006105	hsa-miR-3667-3p	CLIP-seq
MIRT2535791	hsa-miR-3674	CLIP-seq
MIRT1006106	hsa-miR-3910	CLIP-seq
MIRT2535792	hsa-miR-3913-3p	CLIP-seq
MIRT2535793	hsa-miR-3919	CLIP-seq
MIRT2535794	hsa-miR-3925-5p	CLIP-seq
MIRT2535795	hsa-miR-3935	CLIP-seq
MIRT2535796	hsa-miR-3978	CLIP-seq
MIRT2535797	hsa-miR-4277	CLIP-seq
MIRT2535798	hsa-miR-4330	CLIP-seq
MIRT2535799	hsa-miR-4483	CLIP-seq
MIRT1006109	hsa-miR-4484	CLIP-seq
MIRT2535800	hsa-miR-4695-3p	CLIP-seq
MIRT2535801	hsa-miR-4699-5p	CLIP-seq
MIRT2535802	hsa-miR-4756-3p	CLIP-seq
MIRT2535803	hsa-miR-4773	CLIP-seq
MIRT1006111	hsa-miR-500a	CLIP-seq
MIRT2535804	hsa-miR-510	CLIP-seq
MIRT2535805	hsa-miR-512-5p	CLIP-seq
MIRT1006112	hsa-miR-548an	CLIP-seq
MIRT2535806	hsa-miR-563	CLIP-seq
MIRT2535807	hsa-miR-577	CLIP-seq
MIRT2535808	hsa-miR-9	CLIP-seq
MIRT1006088	hsa-miR-1256	CLIP-seq
MIRT2535778	hsa-miR-1273g	CLIP-seq
MIRT2535780	hsa-miR-133a	CLIP-seq
MIRT2535781	hsa-miR-133b	CLIP-seq
MIRT2535782	hsa-miR-154	CLIP-seq
MIRT2535783	hsa-miR-3121-3p	CLIP-seq
MIRT2535784	hsa-miR-3129-3p	CLIP-seq
MIRT2535785	hsa-miR-3148	CLIP-seq
MIRT1006102	hsa-miR-3164	CLIP-seq
MIRT2535786	hsa-miR-326	CLIP-seq
MIRT2535787	hsa-miR-330-5p	CLIP-seq
MIRT2535788	hsa-miR-34b	CLIP-seq
MIRT2535789	hsa-miR-361-5p	CLIP-seq
MIRT2535790	hsa-miR-3662	CLIP-seq
MIRT1006105	hsa-miR-3667-3p	CLIP-seq
MIRT1006106	hsa-miR-3910	CLIP-seq
MIRT2535792	hsa-miR-3913-3p	CLIP-seq
MIRT2535793	hsa-miR-3919	CLIP-seq
MIRT2535794	hsa-miR-3925-5p	CLIP-seq
MIRT2535796	hsa-miR-3978	CLIP-seq
MIRT2535797	hsa-miR-4277	CLIP-seq
MIRT2535798	hsa-miR-4330	CLIP-seq
MIRT1006108	hsa-miR-4468	CLIP-seq
MIRT1006109	hsa-miR-4484	CLIP-seq
MIRT2535800	hsa-miR-4695-3p	CLIP-seq
MIRT2535801	hsa-miR-4699-5p	CLIP-seq
MIRT2535802	hsa-miR-4756-3p	CLIP-seq
MIRT2535803	hsa-miR-4773	CLIP-seq
MIRT1006111	hsa-miR-500a	CLIP-seq
MIRT2681224	hsa-miR-503	CLIP-seq
MIRT2535804	hsa-miR-510	CLIP-seq
MIRT2535805	hsa-miR-512-5p	CLIP-seq
MIRT1006112	hsa-miR-548an	CLIP-seq
MIRT2535806	hsa-miR-563	CLIP-seq
MIRT2681225	hsa-miR-570	CLIP-seq
MIRT2535808	hsa-miR-9	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004560	Function	Alpha-L-fucosidase activity	IBA
GO:0004560	Function	Alpha-L-fucosidase activity	IDA	19666478
GO:0004560	Function	Alpha-L-fucosidase activity	IEA
GO:0004560	Function	Alpha-L-fucosidase activity	TAS	4074382, 11698403
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	TAS	4074382
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006004	Process	Fucose metabolic process	IBA
GO:0006004	Process	Fucose metabolic process	IDA	19666478
GO:0006004	Process	Fucose metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016139	Process	Glycoside catabolic process	IBA
GO:0016139	Process	Glycoside catabolic process	IDA	19666478
GO:0016139	Process	Glycoside catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019377	Process	Glycolipid catabolic process	ISS
GO:0035578	Component	Azurophil granule lumen	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
612280	4006	ENSG00000179163

Protein

UniProt ID

P04066

Protein name

Tissue alpha-L-fucosidase (EC 3.2.1.51) (Alpha-L-fucosidase I) (Alpha-L-fucoside fucohydrolase 1) (Alpha-L-fucosidase 1)

Protein function

Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.

PDB

7PLS , 7PM4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01120	Alpha_L_fucos	24 → 367	Alpha-L-fucosidase	Domain
PF16757	Fucosidase_C	378 → 463	Alpha-L-fucosidase C-terminal domain	Domain

Sequence

MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSLDSRPLPAWFDEAKFGV
FIHWGVFSVPAWGSEWFWWHWQGEGRPQYQRFMRDNYPPGFSYADFGPQFTARFFHPEEW
ADLFQAAGAKYVVLTTKHHEGFTNWPSPVSWNWNSKDVGPHRDLVGELGTALRKRNIRYG
LYHSLLEWFHPLYLLDKKNGFKTQHFVSAKTMPELYDLVNSYKPDLIWSDGEWECPDTYW
NSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGYYNCEDKFKPQSLPDHKWEMCTSID
KFSWGYRRDMALSDVTEESEIISELVQTVSLGGNYLLNIGPTKDGLIVPIFQERLLAVGK
WLSINGEAIYASKPWRVQWEKNTTSVWYTSKGSAVYAIFLHWPENGVLNLESPITTSTTK
ITMLGIQGDLKWSTDPDKGLFISLPQLPPSAVPAEFAWTIKLTGVK

Sequence length

466

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Lysosome		Neutrophil degranulation Reactions specific to the complex N-glycan synthesis pathway

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Fucosidosis	fucosidosis	rs587779399, rs794727774, rs864309551, rs118204450, rs781230182, rs80358195, rs189315801, rs1570679652, rs1557510081, rs80358196, rs1570692560, rs80358197, rs1639666186, rs80358198, rs80358199, rs587779398 View all (1 more)	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mental retardation	intellectual disability	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
AIDS Dementia Complex	Associate	3258005
Body Weight	Associate	23839870
Breast Neoplasms	Associate	26204487
Carotid Stenosis	Associate	21607540
Colorectal Neoplasms	Inhibit	23965968
Fucosidosis	Associate	27706744, 2903667, 2903668, 33435586, 33906529, 34425818, 36082656, 39865383, 8097260, 9039984
Intestinal Neoplasms	Associate	26998741
Krause Kivlin syndrome	Associate	9039984
Lysosomal Storage Diseases	Associate	31603145
Malformations of Cortical Development	Associate	39865383
Mucopolysaccharidosis I	Associate	31603145
Neoplasm Metastasis	Associate	26204487
Neoplasms	Inhibit	23965968, 26998741
Neoplasms	Associate	26204487
Osteosarcoma	Associate	33308057
Schizophrenia	Associate	37552420
Smoke Inhalation Injury	Associate	27154971
Stroke	Associate	21607540
Triple Negative Breast Neoplasms	Associate	26204487

FUCA1 (alpha-L-fucosidase 1)