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

    Gene ID: 2517, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See FUCA1 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (23845077..23868332, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24171567..24194780, 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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-L-fucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    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
    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)

    NEW Try the new Transcript table

    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_000147.5NP_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, ENST00000374479.4
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      23845077..23868332 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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