FUCA1 - alpha-L-fucosidase 1 Gene

Also Known as FUCA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2517

About FUCA1

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:23,845,077-23,868,290 (from NCBI)

This gene has 1 transcript (splice variant), 238 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in lymph node (RPKM 70.6), colon (RPKM 56.5) and 23 other tissues.

Summary

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]

FUCA1 Products (1)

mRNA	Protein	Name
NM_000147.5	NP_000138.2	tissue alpha-L-fucosidase precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-L-fucosidase activity	IDA IDA: Inferred from direct assay	19666478	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in fucose metabolic process	IDA IDA: Inferred from direct assay	19666478	GOA
involved in glycoside catabolic process	IDA IDA: Inferred from direct assay	19666478	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FUCA1 Protein Structure

Alpha_L_fucos

0
100
200
300
400
466 a.a.

Protein Preferred Names	Protein Names
tissue alpha-L-fucosidase	I+/--L-fucosidase 1

FUCA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FUCA1	P04066	CIB1	Homo sapiens	Q99828	Validated Y2H	32296183
Intra	FUCA1	P04066	CIB1	Homo sapiens	Q99828	Y2H Prey Pooling	32296183
Intra	FUCA1	P04066	CIB1	Homo sapiens	Q99828	Y2H Array	32296183
Intra	FUCA1	P04066	MED10	Homo sapiens	Q9BTT4	Y2H Prey Pooling	32296183
Intra	FUCA1	P04066	MED10	Homo sapiens	Q9BTT4	Validated Y2H	32296183
Intra	FUCA1	P04066	MED10	Homo sapiens	Q9BTT4	Y2H Array	32296183
Intra	FUCA1	P04066	UBQLN2	Homo sapiens	Q9UHD9	Y2H Prey Pooling	32296183
Intra	FUCA1	P04066	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183
Intra	FUCA1	P04066	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FUCA1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75782	FUCA1 Protein, Human (HEK293, His)	P04066 (Q32-K466)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Fucosidosis	Alpha-L-Fucosidase Deficiency Fucosidase Deficiency Disease A-Fucosidase Deficiency Alpha Fucosidase Deficiency Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues Alpha-Fucosidase Deficiency Fucosidase Deficiency FUCA1D
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Mucolipidosis Iii Alpha/Beta	Pseudo-Hurler Polydystrophy Mucolipidosis Iii Ml Iii Alpha/Beta Mucolipidosis Iiia Ml Iiia Ml Iii Ml 3 A Ml3 Mucolipidosis Type 3a Mucolipidosis Iii, Variant Mucolipidosis Type Iii Alpha/Beta Ml 3 Alpha/Beta Mucolipidosis Type 3 Alpha/Beta Mucolipidosis Type 3 Mucolipidosis Type Iii Complementation Group A MLIIIA Cariant Pseudo-Hurler Polydystrophy Mucolipidosis, Type Iii Alpha/Beta Mucolipidosis, Type Iii, Alpha/Beta
Angiokeratoma	Angiokeratoma Of Skin Cutaneous Angiokeratoma Skin Angiokeratoma
Fabry Disease	Alpha-Galactosidase A Deficiency Anderson-Fabry Disease Angiokeratoma Corporis Diffusum Ceramide Trihexosidase Deficiency Fabry Disease, Cardiac Variant Fabry'S Disease Hereditary Dystopic Lipidosis Gla Deficiency FD Alpha Galactosidase Deficiency Deficiency Of Melibiase Angiokeratoma, Diffuse Angiokeratoma Diffuse Diffuse Angiokeratoma
Mucolipidosis Ii Alpha/Beta	I-Cell Disease Mucolipidosis Type Ii Mucolipidosis Ii Icd Inclusion Cell Disease Inclusion-Cell Disease I Cell Disease Mucolipidosis 2 MLII Ml Ii Ml Ii Alpha/Beta Gnpta Leroy Disease Ml 2 Ml Disorder Type 2 N-Acetylglucosamine 1phosphotransferase Deficiency Mucolipidosis Type Ii Alpha/Beta N-Acetylglucosamine 1-Phosphotransferase Deficiency Deficiency Of N-Acetylglucosamine-1-Phosphotransferase Mucolipidosis, Type Ii, Alpha/Beta Ml2 Type Ii Mucolipidosis
Skin Hemangioma	Angioma Of The Skin Angiomatous Naevus Of Skin Hemangioma Of Skin
Mannosidosis, Alpha B, Lysosomal	Alpha-Mannosidosis Lysosomal Alpha-D-Mannosidase Deficiency Deficiency Of Alpha-Mannosidase Alpha-Mannosidase B Deficiency Mannosidosis MANSA Mannosidosis, Alpha-, Types I And Ii Alpha-D-Mannosidosis Alpha-Mannosidase Deficiency Α-Mannosidosis Alpha Mannosidase B Deficiency Mannosidosis, Alpha B Lysosomal Lysosomal Alpha B Mannosidosis Alpha-Mannosidosis, Infantile Form Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form Alpha-Mannosidosis, Adult Form Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form Alpha-Mannosidosis Types I And Ii Mannosidase Deficiency Diseases
Hurler Syndrome	Mucopolysaccharidosis Ih Mucopolysaccharidosis Type Ih Mps1-H MPS1H Hurler Disease Mpsih Mucopolysaccharidosis Type 1h Alpha-L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Hurler Disease Mps Type 1h Hurler-Pfaundler Syndrome L-Iduronidase Deficiency, Hurler Type Mucopolysaccharidosis Type I Severe Form Mucopolysaccharidosis 1h Hurler'S Syndrome Mps Ih Mps-Ih Pfaundler-Hurler Syndrome Mucopolysaccharidosis I
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Leukodystrophy, Hypomyelinating, 5	Hypomyelination And Congenital Cataract HLD5 Hypomyelination-Congenital Cataract Syndrome Hypomyelinating Leukodystrophy 5 Hcc Hypomyelination And Congenital Cataract: Hcc Hypomyelination - Congenital Cataract Hypomyelination With Congenital Cataract
Galactosialidosis	Goldberg Syndrome Neuraminidase Deficiency With Beta-Galactosidase Deficiency Ppca Deficiency GSL Lysosomal Protective Protein Deficiency Cathepsin A Deficiency Neuraminidase/Beta-Galactosidase Expression Protective Protein/Cathepsin A Deficiency Ngbe Cathepsin A Deficiency Of Lysosomal Protective Protein Deficiency Of Deficiency Of Cathepsin A Neuraminidase Beta-Galactosidase Deficiency Protective Protein Cathepsin A Deficiency
Laryngotracheitis
Schindler Disease	Alpha-N-Acetylgalactosaminidase Deficiency Naga Deficiency Alpha-Galactosidase B Deficiency Alpha-Galnac Deficiency, Schindler Type Alpha-Naga Deficiency Angiokeratoma Corporis Diffusum-Glycopeptiduria Galb Deficiency Kanzaki Disease Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum Neuroaxonal Dystrophy, Schindler Type Neuronal Axonal Dystrophy, Schindler Type Schindler Disease, Type I Schindler Disease, Type Ii
Mannosidosis, Beta A, Lysosomal	Beta-Mannosidosis Lysosomal Beta-Mannosidase Deficiency Beta-Mannosidase Deficiency Beta-D-Mannosidosis Mannosidosis, Beta MANSB Lysosomal Beta A Mannosidosis
Glycoproteinosis	Sialidosis Mucolipidosis Type I Mucolipidoses Cherry Red Spot Myoclonus Syndrome Mucolipidosis I Myoclonus Cherry Red Spot Syndrome Type I Mucolipidosis Lipomucopolysaccharidosis Disorders Of Glycoprotein Metabolism Glycoprotein Storage Disorder
Aspartylglucosaminuria	Aspartylglycosaminuria Glycosylasparaginase Deficiency Aspartylglucosaminidase Deficiency Aga Deficiency AGU Aspartylglucosamidase Deficiency Glycoasparaginase Aspartylglucosamidase Deficiency Hyperammonemia, Type Iii
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Mucopolysaccharidosis, Type Vi	Maroteaux-Lamy Syndrome Arylsulfatase B Deficiency Mucopolysaccharidosis Type Vi Mps Vi Mucopolysaccharidosis Vi Mucopolysaccharidosis Type 6 MPS6 Arsb Deficiency N-Acetylgalactosamine-4-Sulfatase Deficiency Mucopolysaccharidosis 6 N-Acetylgalactosamine 4-Sulfatase Deficiency Deficiency Of N-Acetylgalactosamine-4-Sulfatase Maroteaux - Lamy Syndrome Mps Vi - Maroteaux-Lamy Syndrome Mps 6 Maroteaux Lamy Syndrome Mucopoly-Saccharidosis Type Vi Polydystrophic Dwarfism Asb Deficiency Mpsvi Maroteaux-Lamy Disease Arsb - [Arylsulfatase B] Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05143	FUCA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17763	Fuca1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24230	Fuca1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FUCA1	VGNC	VGNC:72826
Canis familiaris	FUCA1	VGNC	VGNC:41005
Rattus norvegicus	FUCA1	RGD	RGD:2636
Felis catus	FUCA1	VGNC	VGNC:62387
Mus musculus	FUCA1	MGD	MGI:95593
Bos taurus	FUCA1	VGNC	VGNC:29140
Others	FUCA1	NCBI