FUCA1 - alpha-L-fucosidase 1 Gene

Homo sapiens

Also known as FUCA

Gene ID: 2517 | Gene type: protein coding

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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05143	FUCA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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