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    BTD biotinidase [ Homo sapiens (human) ]

    Gene ID: 686, updated on 12-Aug-2018

    Summary

    Official Symbol
    BTDprovided by HGNC
    Official Full Name
    biotinidaseprovided by HGNC
    Primary source
    HGNC:HGNC:1122
    See related
    Ensembl:ENSG00000169814 MIM:609019; Vega:OTTHUMG00000129861
    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:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (15601352..15653711)
    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 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 Jun 15 11:32:44 2016

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Biotinidase deficiency
    MedGen: C0220754 OMIM: 253260 GeneReviews: Biotinidase Deficiency
    Compare labs

    NHGRI GWAS Catalog

    Description
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Biotin metabolism, organism-specific biosystem (from KEGG)
      Biotin metabolism, organism-specific biosystemBiotin (vitamin H or vitamin B7) is the essential cofactor of biotin-dependent carboxylases, such as pyruvate carboxylase and acetyl-CoA carboxylase. Mammals cannot synthesize biotin, while in bacter...
    • Biotin metabolism, conserved biosystem (from KEGG)
      Biotin metabolism, conserved biosystemBiotin (vitamin H or vitamin B7) is the essential cofactor of biotin-dependent carboxylases, such as pyruvate carboxylase and acetyl-CoA carboxylase. Mammals cannot synthesize biotin, while in bacter...
    • Biotin transport and metabolism, organism-specific biosystem (from REACTOME)
      Biotin transport and metabolism, organism-specific biosystemBiotin (Btn) is an essential cofactor in a variety of carboxylation reactions (Zempleni et al. 2009). Humans cannot synthesize Btn but it is abundant in the human diet and can be taken up from the in...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
      Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    • Vitamin digestion and absorption, conserved biosystem (from KEGG)
      Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...

    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_000051.1
    NP_001268652.1
    NP_001268653.1
    NP_001268654.1
    NP_001268655.1
    NP_001310511.1
    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_008019.1 RefSeqGene

      Range
      4998..50891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000060.4NP_000051.1  biotinidase isoform 3

      See identical proteins and their annotated locations for NP_000051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC027129, AK313252, BE814688, BM565546, CA308344
      Consensus CDS
      CCDS2628.1
      UniProtKB/Swiss-Prot
      P43251
      Related
      ENSP00000495254.1, OTTHUMP00000160300, ENST00000643237.1, OTTHUMT00000252103
      Conserved Domains (1) summary
      cd07567
      Location:58361
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    2. NM_001281723.2NP_001268652.1  biotinidase isoform 1

      See identical proteins and their annotated locations for NP_001268652.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 encode isoforms that are the same length, but have distinct protein sequences.
      Source sequence(s)
      AC027129, AK297033, BM565546, CA308344
      Consensus CDS
      CCDS63563.1
      UniProtKB/Swiss-Prot
      P43251
      Related
      ENSP00000388212.1, OTTHUMP00000209134, ENST00000449107.6, OTTHUMT00000342874
      Conserved Domains (1) summary
      cd07567
      Location:60363
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    3. NM_001281724.2NP_001268653.1  biotinidase isoform 2

      See identical proteins and their annotated locations for NP_001268653.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences compared to variant 1 that result in a distinct 5' UTR and cause translation initiation at a downstream start codon. Variants 1 and 2 encode isoforms that are the same length, but have distinct protein sequences.
      Source sequence(s)
      AC027129, AK294301, AW301159, BF195658, BM565546, BM710057, BP326502, CA308344, HY209451
      Consensus CDS
      CCDS63564.1
      UniProtKB/Swiss-Prot
      P43251
      Related
      ENSP00000400995.1, OTTHUMP00000209135, ENST00000437172.5, OTTHUMT00000342875
      Conserved Domains (1) summary
      cd07567
      Location:60363
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    4. NM_001281725.2NP_001268654.1  biotinidase isoform 4 precursor

      See identical proteins and their annotated locations for NP_001268654.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences compared to variant 1 that result in a distinct 5' UTR and cause translation initiation at a downstream start codon. The encoded protein (isoform 4) is shorter and has a distinct N-terminus compared to isoform 1. Variants 4 and 6 encode the same isoform.
      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)
    5. NM_001281726.1NP_001268655.1  biotinidase isoform 5

      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)
      AI391654, BE814688, BM919775
      Consensus CDS
      CCDS87052.1
      Related
      ENSP00000403775.2, ENST00000417015.2
      Conserved Domains (1) summary
      cl11424
      Location:58161
      nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes
    6. NM_001323582.1NP_001310511.1  biotinidase isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: Variants 4 and 6 encode the same isoform (4).
      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)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      15601352..15653711
      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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