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

Gene ID: 2517, updated on 12-May-2019

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
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

Genomic context

See FUCA1 in Genome Data Viewer
Location:
1p36.11
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (23845077..23868369, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24171567..24194859, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene 3-hydroxy-3-methylglutaryl-CoA lyase Neighboring gene uncharacterized LOC105376861 Neighboring gene cannabinoid receptor 2 Neighboring gene BTB domain containing 6 pseudogene 1 Neighboring gene uncharacterized LOC107984929

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • N-glycan antennae elongation in the medial/trans-Golgi, organism-specific biosystem (from REACTOME)
    N-glycan antennae elongation in the medial/trans-Golgi, organism-specific biosystemIn the latter compartments of the distal Golgi the N-Glycan is further modified, leading to the wide range of N-Glycans observed in multicellular organisms. The first step of N-Glycan elongation in t...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Other glycan degradation, organism-specific biosystem (from KEGG)
    Other glycan degradation, organism-specific biosystem
    Other glycan degradation
  • Other glycan degradation, conserved biosystem (from KEGG)
    Other glycan degradation, conserved biosystem
    Other glycan degradation
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Reactions specific to the complex N-glycan synthesis pathway, organism-specific biosystem (from REACTOME)
    Reactions specific to the complex N-glycan synthesis pathway, organism-specific biosystemIf MAN2 acts before MGAT3, the pathway progresses to complex N-glycans, because MAN2 is not able to operate on bisected oligosaccharides (11421343, page 5). The expression of MAN2 over MGAT3 in a tis...
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-L-fucosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alpha-L-fucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
alpha-L-fucosidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
fucose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fucose metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycolipid catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glycosaminoglycan catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
glycoside catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycoside catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
XP_005245878.1
XP_011539469.1
XP_016856394.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_013346.1 RefSeqGene

    Range
    5001..28293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000147.4NP_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
    P04066
    Related
    ENSP00000363603.3, ENST00000374479.3
    Conserved Domains (3) summary
    smart00812
    Location:31413
    Alpha_L_fucos; Alpha-L-fucosidase
    COG3669
    Location:63383
    AfuC; Alpha-L-fucosidase [Carbohydrate transport and metabolism]
    pfam16757
    Location:382463
    Fucosidase_C; Alpha-L-fucosidase C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    23845077..23868369 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245821.3XP_005245878.1  tissue alpha-L-fucosidase isoform X2

    Conserved Domains (3) summary
    smart00812
    Location:5288
    Alpha_L_fucos; Alpha-L-fucosidase
    COG3669
    Location:5258
    AfuC; Alpha-L-fucosidase [Carbohydrate transport and metabolism]
    pfam16757
    Location:257338
    Fucosidase_C; Alpha-L-fucosidase C-terminal domain
  2. XM_017000905.2XP_016856394.1  tissue alpha-L-fucosidase isoform X1

  3. XM_011541167.3XP_011539469.1  tissue alpha-L-fucosidase isoform X3

    See identical proteins and their annotated locations for XP_011539469.1

    UniProtKB/TrEMBL
    B5MDC5
    Conserved Domains (3) summary
    COG3669
    Location:14172
    AfuC; Alpha-L-fucosidase [Carbohydrate transport and metabolism]
    pfam16757
    Location:171252
    Fucosidase_C; Alpha-L-fucosidase C-terminal domain
    cl07893
    Location:1202
    AmyAc_family; Alpha amylase catalytic domain family
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