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    Fuca1 fucosidase, alpha-L- 1, tissue [ Mus musculus (house mouse) ]

    Gene ID: 71665, updated on 12-May-2024

    Summary

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    Official Symbol
    Fuca1provided by MGI
    Official Full Name
    fucosidase, alpha-L- 1, tissueprovided by MGI
    Primary source
    MGI:MGI:95593
    See related
    Ensembl:ENSMUSG00000028673 AllianceGenome:MGI:95593
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Afuc; Fuca; 0610006A03Rik; 9530055J05Rik
    Summary
    Predicted to enable alpha-L-fucosidase activity and carbohydrate binding activity. Predicted to be involved in fucose metabolic process and glycoside catabolic process. Predicted to be active in lysosome. Is expressed in several structures, including alimentary system; brain; cranium; genitourinary system; and heart. Used to study fucosidosis. Human ortholog(s) of this gene implicated in fucosidosis. Orthologous to human FUCA1 (alpha-L-fucosidase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon adult (RPKM 71.1), kidney adult (RPKM 50.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fuca1 in Genome Data Viewer
    Location:
    4 D3; 4 68.01 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (135648037..135667611)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (135920726..135940300)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4683 Neighboring gene STARR-positive B cell enhancer ABC_E1660 Neighboring gene proline-rich nuclear receptor coactivator 2 Neighboring gene STARR-seq mESC enhancer starr_11738 Neighboring gene STARR-positive B cell enhancer ABC_E8000 Neighboring gene STARR-positive B cell enhancer ABC_E4684 Neighboring gene cannabinoid receptor 2 Neighboring gene STARR-seq mESC enhancer starr_11739 Neighboring gene STARR-positive B cell enhancer ABC_E4685 Neighboring gene STARR-positive B cell enhancer ABC_E4686 Neighboring gene 3-hydroxy-3-methylglutaryl-Coenzyme A lyase Neighboring gene STARR-positive B cell enhancer ABC_E3529 Neighboring gene galactose-4-epimerase, UDP

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice. Stroobants S, et al. Front Behav Neurosci, 2018. PMID 29706874, Free PMC Article
    2. A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Wolf H, et al. Dis Model Mech, 2016 Sep 1. PMID 27491075, Free PMC Article
    3. Distribution, crypticity, stability, and localization of α-L-fucosidase of mouse cauda epididymal sperm. Phopin K, et al. Mol Reprod Dev, 2012 Mar. PMID 22231989
    4. Variation in alpha-L-fucosidase properties among 28 inbred mouse strains: six strains have high enzyme activity and heat-stabile enzyme with a variant pH-activity curve; twenty-two strains have low activity and heat-labile enzyme. Johnson WG, et al. Biochem Genet, 1986 Jun. PMID 3741369
    5. Strain variation in spermatozoal glycosidases in inbred mice. Self SJ, et al. Genet Res, 1978 Oct. PMID 744483

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-L-fucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-L-fucosidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carbohydrate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables fucosidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity, acting on glycosyl bonds IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fucose metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glycoside catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycoside catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    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
    alpha-L-fucosidase 1
    alpha-L-fucosidase I
    alpha-L-fucoside fucohydrolase 1
    NP_077205.3

    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.

    mRNA and Protein(s)

    1. NM_024243.4 → NP_077205.3  tissue alpha-L-fucosidase precursor

      See identical proteins and their annotated locations for NP_077205.3

      Status: VALIDATED

      Source sequence(s)
      AK089958, AK151361, AL672076, BY158254
      Consensus CDS
      CCDS18794.1
      UniProtKB/Swiss-Prot
      B1AV51, Q3UAH8, Q8BN13, Q99LJ1, Q9DD22
      UniProtKB/TrEMBL
      Q3TCW3
      Related
      ENSMUSP00000030434.5, ENSMUST00000030434.5
      Conserved Domains (3) summary
      smart00812
      Location:20 → 399
      Alpha_L_fucos; Alpha-L-fucosidase
      COG3669
      Location:49 → 367
      AfuC; Alpha-L-fucosidase [Carbohydrate transport and metabolism]
      pfam16757
      Location:372 → 449
      Fucosidase_C; Alpha-L-fucosidase C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      135648037..135667611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99LJ1.1 GenPept UniProtKB/Swiss-Prot:Q99LJ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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