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    Manba mannosidase, beta A, lysosomal [ Mus musculus (house mouse) ]

    Gene ID: 110173, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Manbaprovided by MGI
    Official Full Name
    mannosidase, beta A, lysosomalprovided by MGI
    Primary source
    MGI:MGI:88175
    See related
    Ensembl:ENSMUSG00000028164 AllianceGenome:MGI:88175
    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
    Bmn; 2410030O07Rik; B930014J03Rik
    Summary
    Enables beta-mannosidase activity. Involved in glycoprotein catabolic process and oligosaccharide catabolic process. Located in extracellular space. Is active in lysosomal lumen. Is expressed in several structures, including alimentary system; ear; genitourinary system; heart; and nervous system. Used to study beta-mannosidosis. Human ortholog(s) of this gene implicated in beta-mannosidosis. Orthologous to human MANBA (mannosidase beta). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 10.2), kidney adult (RPKM 8.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Manba in Genome Data Viewer
    Location:
    3 G3; 3 62.65 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (135191367..135277165)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (135485611..135571404)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930539J05 gene Neighboring gene STARR-positive B cell enhancer ABC_E1026 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:135101299-135101408 Neighboring gene STARR-positive B cell enhancer ABC_E6132 Neighboring gene ubiquitin-conjugating enzyme E2D 3 Neighboring gene predicted gene, 30992 Neighboring gene STARR-seq mESC enhancer starr_09062 Neighboring gene ornithine decarboxylase antizyme 2, pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:135244702-135244889 Neighboring gene STARR-positive B cell enhancer ABC_E10216 Neighboring gene nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 Neighboring gene STARR-positive B cell enhancer ABC_E829 Neighboring gene STARR-positive B cell enhancer ABC_E4597 Neighboring gene STARR-positive B cell enhancer ABC_E11220 Neighboring gene STARR-positive B cell enhancer ABC_E1267 Neighboring gene STARR-seq mESC enhancer starr_09070 Neighboring gene STARR-positive B cell enhancer ABC_E8806 Neighboring gene RIKEN cDNA 4933401H06 gene Neighboring gene solute carrier family 39 (metal ion transporter), member 8

    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. Beta-mannosidase maps to cattle chromosome 6. Schmutz SM, et al. Mamm Genome, 1996 Jun. PMID 8662218
    2. Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity. Gu X, et al. Sci Transl Med, 2021 Jan 13. PMID 33441424, Free PMC Article
    3. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. Alkhayat AH, et al. Hum Mol Genet, 1998 Jan. PMID 9384606
    4. Beta-mannosidosis mice: a model for the human lysosomal storage disease. Zhu M, et al. Hum Mol Genet, 2006 Feb 1. PMID 16377659
    5. The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus. Gytz H, et al. FEBS J, 2019 Apr. PMID 30552791

    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 (2) 
    • Targeted (2)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables D-mannose binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables beta-mannosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables beta-mannosidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables beta-mannosidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables beta-mannosidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glycoprotein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within glycoprotein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycoprotein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in oligosaccharide catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lysosomal lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    beta-mannosidase
    Names
    lysosomal beta A mannosidase
    mannanase
    mannase
    NP_081564.3
    XP_006500971.1

    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_027288.3 → NP_081564.3  beta-mannosidase precursor

      See identical proteins and their annotated locations for NP_081564.3

      Status: VALIDATED

      Source sequence(s)
      AF306557, BB782198, BU757579
      Consensus CDS
      CCDS17857.1
      UniProtKB/Swiss-Prot
      Q3TDB3, Q3TLS7, Q3UQT5, Q8K2I4, Q99MS1, Q9CRH3
      UniProtKB/TrEMBL
      A0A0R4J092
      Related
      ENSMUSP00000029814.10, ENSMUST00000029814.10
      Conserved Domains (3) summary
      COG3250
      Location:24 → 694
      LacZ; Beta-galactosidase/beta-glucuronidase [Carbohydrate transport and metabolism]
      pfam02837
      Location:80 → 136
      Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain
      cl23725
      Location:343 → 457
      Glyco_hydro_1; Glycosyl hydrolase family 1

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      135191367..135277165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500908.3 → XP_006500971.1  beta-mannosidase isoform X1

      Conserved Domains (3) summary
      cl30613
      Location:8 → 392
      LacZ; Beta-galactosidase/beta-glucuronidase [Carbohydrate transport and metabolism]
      pfam17753
      Location:499 → 575
      Ig_mannosidase; Ig-fold domain
      pfam17786
      Location:398 → 493
      Mannosidase_ig; Mannosidase Ig/CBM-like domain

    RNA

    1. XR_867210.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K2I4.1 GenPept UniProtKB/Swiss-Prot:Q8K2I4

    Gene LinkOut

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

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