FUCA1 alpha-L-fucosidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FUCA1provided by HGNC
Official Full Name: alpha-L-fucosidase 1provided by HGNC
Primary source: HGNC:HGNC:4006
See related: Ensembl:ENSG00000179163 MIM:612280; AllianceGenome:HGNC:4006
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FUCA
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]
Expression: Broad expression in lymph node (RPKM 70.6), colon (RPKM 56.5) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (23845077..23868290, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (23680157..23703377, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (24171567..24194780, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.
Title: Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.
The long-awaited structure of human fucosidase FucA1 opens novel avenues for the treatment of fucosidosis.
Title: The long-awaited structure of human fucosidase FucA1 opens novel avenues for the treatment of fucosidosis.
Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.
Title: Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.
Comparative studies on the substrate specificity and defucosylation activity of three alpha-l-fucosidases using synthetic fucosylated glycopeptides and glycoproteins as substrates.
Title: Comparative studies on the substrate specificity and defucosylation activity of three α-l-fucosidases using synthetic fucosylated glycopeptides and glycoproteins as substrates.
Clinical relevance of serum alpha-l-fucosidase activity in the SARS-CoV-2 infection.
Title: Clinical relevance of serum α-l-fucosidase activity in the SARS-CoV-2 infection.
Fucosidosis with Pathogenic Variant in FUCA1 Gene.
Title: Fucosidosis with Pathogenic Variant in FUCA1 Gene.
Alterations in plasma levels of alpha-L-FUCA-1 were significantly associated with Sjogren's syndrome.
Title: Plasma α-L-fucosidase-1 in patients with Sjögren's syndrome and other rheumatic disorders.
serum alpha-l-fucosidase activities are not only useful for liver cancer diagnosis but also valuable indicators for different types of human diseases.
Title: Serum α-l-fucosidase activities are significantly increased in patients with preeclampsia.
Taken together, our results have shown that FUCA1 down-regulation leads to expression disturbances regarding genes mainly related to keratinocyte differentiation/epidermal development and immune responses.
Title: Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions.
FUCA1 is a useful marker to distinguish mucoepidermoid carcinoma from oral squamous cell carcinoma
Title: Alpha-L-fucosidase-1 is a diagnostic marker that distinguishes mucoepidermoid carcinoma from squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Fucosidosis MedGen: C0016788 OMIM: 230000 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of fucosidase, alpha-L-1 (FUCA1) in peptide-treated PBMCs	PubMed
Tat	tat	HIV-1 Tat downregulates the expression of fucosidase, alpha-L-1 (FUCA1) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3248 (e-PCR)
- UniSTS:68891

RH69114 (e-PCR)
- UniSTS:39529

GDB:378606 (e-PCR)
- UniSTS:157075

G44348 (e-PCR)
- UniSTS:95135

GDB:549178 (e-PCR)
- UniSTS:157623

GDB:549184 (e-PCR)
- UniSTS:157625

FUCA1 (e-PCR)
- UniSTS:503256

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-L-fucosidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-L-fucosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-L-fucosidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fucose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fucose metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycolipid catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycosaminoglycan catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in glycoside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycoside catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal lumen	TAS Traceable Author Statement more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tissue alpha-L-fucosidase

Names: I+/--L-fucosidase 1; a-L-fucosidase 1; alpha-L-fucosidase I; alpha-L-fucoside fucohydrolase 1; fucosidase, alpha-L- 1, tissue; tissue fucosidase

NP_000138.2

EC 3.2.1.51

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013346.1 RefSeqGene

Range

5080..28293

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000147.5 → NP_000138.2 tissue alpha-L-fucosidase precursor

See identical proteins and their annotated locations for NP_000138.2

Status: REVIEWED

Source sequence(s)

BC017338, DC397571

Consensus CDS

CCDS244.2

UniProtKB/Swiss-Prot

B2RBG3, P04066, Q14334, Q14335, Q3LID0, Q8NAC2

Related

ENSP00000363603.3, ENST00000374479.4

Conserved Domains (3) summary

smart00812
Location:31 → 413

Alpha_L_fucos; Alpha-L-fucosidase

COG3669
Location:63 → 383

AfuC; Alpha-L-fucosidase [Carbohydrate transport and metabolism]

pfam16757
Location:382 → 463

Fucosidase_C; Alpha-L-fucosidase C-terminal domain