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    BTD biotinidase [ Homo sapiens (human) ]

    Gene ID: 686, updated on 24-Nov-2020

    Summary

    Official Symbol
    BTDprovided by HGNC
    Official Full Name
    biotinidaseprovided by HGNC
    Primary source
    HGNC:HGNC:1122
    See related
    Ensembl:ENSG00000169814 MIM:609019
    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
    Summary
    The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in kidney (RPKM 6.6), fat (RPKM 5.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See BTD in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (15601352..15722516)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15642864..15689147)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene collagen like tail subunit of asymmetric acetylcholinesterase Neighboring gene uncharacterized LOC105376964 Neighboring gene RNA, 7SL, cytoplasmic 110, pseudogene Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene ankyrin repeat domain 28 Neighboring gene microRNA 3134 Neighboring gene uncharacterized LOC101927647 Neighboring gene RNA, 7SL, cytoplasmic 4, pseudogene

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Biotinidase deficiency
    MedGen: C0220754 OMIM: 253260 GeneReviews: Biotinidase Deficiency
    Compare labs
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    GeneReviews: Not available

    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
    biotinidase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    biotin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    biotin metabolic process TAS
    Traceable Author Statement
    more info
     
    central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    biotinidase
    Names
    biotinase
    NP_001268652.2
    NP_001268653.2
    NP_001268654.1
    NP_001268655.2
    NP_001310511.1
    NP_001357587.1
    NP_001357681.1
    NP_001357682.1
    XP_011532343.1
    XP_016862577.1
    XP_024309492.1

    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_008019.2 RefSeqGene

      Range
      5394..57363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001281723.3NP_001268652.2  biotinidase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1-4 and 6 encode the same isoform (1).
      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS63563.1
      Related
      ENSP00000388212.2, ENST00000449107.7
      Conserved Domains (1) summary
      cd07567
      Location:38341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    2. NM_001281724.3NP_001268653.2  biotinidase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 and 6 encode the same isoform (1).
      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS63564.1
      Related
      ENSP00000400995.2, ENST00000437172.6
      Conserved Domains (1) summary
      cd07567
      Location:38341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    3. NM_001281725.2NP_001268654.1  biotinidase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001268654.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 and 6 encode the same isoform (1).
      Source sequence(s)
      AC027129, AK301838, AL573841, BM565546, CA308344
      Consensus CDS
      CCDS63565.1
      UniProtKB/Swiss-Prot
      P43251
      Related
      ENSP00000373288.4, ENST00000383778.5
      Conserved Domains (1) summary
      cd07567
      Location:38341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    4. NM_001281726.2NP_001268655.2  biotinidase isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 5) is shorter and has distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC027129, AC090950, BM840185
      Consensus CDS
      CCDS87052.1
      Related
      ENSP00000403775.3, ENST00000417015.3
    5. NM_001323582.1NP_001310511.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-4 and 6 encode the same isoform (1).
      Source sequence(s)
      AC027129, CA308344
      Consensus CDS
      CCDS63565.1
      UniProtKB/Swiss-Prot
      P43251
      Related
      ENSP00000306477.6, ENST00000303498.10
      Conserved Domains (1) summary
      cd07567
      Location:38341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    6. NM_001370658.1NP_001357587.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 and 6 encode the same isoform (1).
      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS2628.1
      Related
      ENSP00000495254.2, ENST00000643237.3
      Conserved Domains (1) summary
      cd07567
      Location:38341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    7. NM_001370752.1NP_001357681.1  biotinidase isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Related
      ENSP00000500131.1, ENST00000672427.1
      Conserved Domains (1) summary
      cd07567
      Location:38335
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    8. NM_001370753.1NP_001357682.1  biotinidase isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Related
      ENSP00000500530.1, ENST00000672760.1
      Conserved Domains (1) summary
      cl11424
      Location:38133
      nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      15601352..15722516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007088.1XP_016862577.1  biotinidase isoform X1

      UniProtKB/Swiss-Prot
      P43251
      Conserved Domains (1) summary
      cd07567
      Location:38341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    2. XM_011534041.2XP_011532343.1  biotinidase isoform X1

      See identical proteins and their annotated locations for XP_011532343.1

      UniProtKB/Swiss-Prot
      P43251
      Conserved Domains (1) summary
      cd07567
      Location:38341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    3. XM_024453724.1XP_024309492.1  biotinidase isoform X1

      Conserved Domains (1) summary
      cd07567
      Location:38341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
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