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    Btd biotinidase [ Mus musculus (house mouse) ]

    Gene ID: 26363, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Btdprovided by MGI
    Official Full Name
    biotinidaseprovided by MGI
    Primary source
    MGI:MGI:1347001
    See related
    Ensembl:ENSMUSG00000021900 AllianceGenome:MGI:1347001
    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
    Summary
    Enables biotinidase activity. Acts upstream of or within biotin metabolic process. Located in apical part of cell; nucleolus; and perikaryon. Is expressed in blood vessel; inner ear; nervous system; and urinary system. Used to study biotinidase deficiency. Human ortholog(s) of this gene implicated in biotinidase deficiency. Orthologous to human BTD (biotinidase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney adult (RPKM 42.3), liver adult (RPKM 36.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    14 B; 14 19.36 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (31363014..31390154)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (31641057..31668197)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:32345029-32345265 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:32369012-32369287 Neighboring gene collagen like tail subunit of asymmetric acetylcholinesterase Neighboring gene STARR-seq mESC enhancer starr_36317 Neighboring gene predicted gene, 57482 Neighboring gene STARR-seq mESC enhancer starr_36319 Neighboring gene STARR-positive B cell enhancer ABC_E11568 Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene STARR-positive B cell enhancer ABC_E7304 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:32483369-32483556 Neighboring gene predicted gene, 53840 Neighboring gene ankyrin repeat domain 28 Neighboring gene STARR-positive B cell enhancer ABC_E4102 Neighboring gene STARR-seq mESC enhancer starr_36323 Neighboring gene STARR-seq mESC enhancer starr_36326 Neighboring gene RIKEN cDNA D830044D21 gene Neighboring gene predicted gene, 36164

    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. Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. Pindolia K, et al. Mol Genet Metab, 2014 May. PMID 24630269
    2. Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder. Hernández-Vázquez A, et al. Mol Genet Metab, 2013 Nov. PMID 24075304
    3. Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. Pindolia K, et al. Neurobiol Dis, 2012 Sep. PMID 22579707, Free PMC Article
    4. Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency. Heller AJ, et al. Hear Res, 2002 Nov. PMID 12372635
    5. Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. Pindolia K, et al. Mol Genet Metab, 2011 Feb. PMID 21051254, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation.
      Title: Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder.
    2. This study demonistrated that biotinidase deficiency mice showed demylination and axonal degeneration.
      Title: Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.
    3. results indicate low expression of biotinidase throughout the brain, but increased concentrations within the dorsal cochlear nucleus, ventral cochlear nucleus, and superior olivary complex as well as in the hair cells and spiral ganglion of the cochlea
      Title: Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 biotinidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biotin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within biotin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in biotin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nitrogen compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular space HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    biotinidase
    Names
    biotinase
    NP_001361146.1
    NP_079571.1
    XP_036014494.1

    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_001374217.1 → NP_001361146.1  biotinidase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC109509
      Conserved Domains (2) summary
      cd07567
      Location:1 → 230
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
      pfam19018
      Location:262 → 411
      Vanin_C; Vanin C-terminal domain

    2. NM_025295.4 → NP_079571.1  biotinidase isoform 1 precursor

      See identical proteins and their annotated locations for NP_079571.1

      Status: VALIDATED

      Source sequence(s)
      AK005506, AK135375, BU700769, CJ181966
      Consensus CDS
      CCDS36857.1
      UniProtKB/Swiss-Prot
      Q3UXQ4, Q8CIF4, Q9DAV0
      UniProtKB/TrEMBL
      A0A0R4J131
      Related
      ENSMUSP00000087608.7, ENSMUST00000090147.7
      Conserved Domains (1) summary
      cd07567
      Location:44 → 347
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      31363014..31390154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158601.1 → XP_036014494.1  biotinidase isoform X1

      Conserved Domains (2) summary
      cd07567
      Location:1 → 230
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
      pfam19018
      Location:262 → 411
      Vanin_C; Vanin C-terminal domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CIF4.2 GenPept UniProtKB/Swiss-Prot:Q8CIF4

    Gene LinkOut

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

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