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    BTD biotinidase [ Homo sapiens (human) ]

    Gene ID: 686, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BTDprovided by HGNC
    Official Full Name
    biotinidaseprovided by HGNC
    Primary source
    HGNC:HGNC:1122
    See related
    Ensembl:ENSG00000169814 MIM:609019; AllianceGenome:HGNC:1122
    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
    mouse all
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    Genomic context

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    See BTD in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (15601361..15722516)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (15603680..15724834)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15642868..15764023)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene collagen like tail subunit of asymmetric acetylcholinesterase Neighboring gene microRNA 4270 Neighboring gene RNA, 7SL, cytoplasmic 110, pseudogene Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:15642981-15643623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:15688189-15688722 Neighboring gene Sharpr-MPRA regulatory region 6531 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65637 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Seventeen novel mutations that cause profound biotinidase deficiency. Wolf B, et al. Mol Genet Metab, 2002 Sep-Oct. PMID 12359137
    2. Analysis of mutations causing biotinidase deficiency. Pindolia K, et al. Hum Mutat, 2010 Sep. PMID 20556795
    3. High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. Milánkovics I, et al. J Inherit Metab Dis, 2010 Dec. PMID 20549359
    4. Technical standards and guidelines for the diagnosis of biotinidase deficiency. Cowan TM, et al. Genet Med, 2010 Jul. PMID 20539236
    5. Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook. Angaroni CJ, et al. J Inherit Metab Dis, 2010 Oct. PMID 20532819

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
      Title: Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
    2. Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
      Title: Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
    3. Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.
      Title: Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.
    4. Biotinidase deficiency: What have we learned in forty years?
      Title: Biotinidase deficiency: What have we learned in forty years?
    5. BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
      Title: BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
    6. In patients with biotinidase deficiency, the p.Leu40Pro, p.Cys160Tyr and p.Leu446Pro variants are deleterious; the p.Asn489Ser is probably related to a mild biochemical phenotype; and p.Asp222Asn variant is probably not deleterious. The p.Asp444His variant seems to code for a protein with variable activity.
      Title: Effect of BTD gene variants on in vitro biotinidase activity.
    7. BTD mutation is associated with biotinidase deficiency.
      Title: Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
    8. Biotinidase deficiency is reviewed.
      Title: Clinical utility gene card for: Biotinidase deficiency-update 2015.
    9. Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66).
      Title: Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
    10. The history and genetic basis of biotinidase deficiency has been presented. (Review)
      Title: Biotinidase deficiency and our champagne legacy.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Biotinidase deficiency
    MedGen: C0220754 OMIM: 253260 GeneReviews: Biotinidase Deficiency
    		not available

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    Function Evidence Code Pubs
    enables biotinidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biotin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in biotin metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    biotinidase
    Names
    biocytinase
    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
    NP_001394293.1
    NP_001394294.1
    NP_001394295.1
    NP_001394296.1
    NP_001394297.1
    NP_001394298.1
    NP_001394299.1
    NP_001394300.1
    NP_001394301.1
    NP_001394302.1
    NP_001394303.1
    NP_001394304.1
    NP_001394305.1
    NP_001394306.1
    NP_001394307.1
    NP_001394308.1
    NP_001394309.1
    NP_001394310.1
    NP_001394311.1
    NP_001394312.1
    NP_001394313.1
    NP_001394315.1
    NP_001394317.1
    NP_001394319.1
    NP_001394321.1
    NP_001394323.1
    NP_001394324.1
    NP_001394325.1
    NP_001394326.1
    NP_001394327.1
    NP_001394328.1
    NP_001394329.1
    NP_001394330.1

    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.

    Genomic

    1. NG_008019.3 RefSeqGene

      Range
      5395..57364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001281723.4 → NP_001268652.2  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS63565.1
      UniProtKB/Swiss-Prot
      A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
      Conserved Domains (1) summary
      cd07567
      Location:38 → 341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)

    2. NM_001281724.3 → NP_001268653.2  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS63565.1
      UniProtKB/Swiss-Prot
      A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
      Related
      ENSP00000400995.2, ENST00000437172.6
      Conserved Domains (1) summary
      cd07567
      Location:38 → 341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)

    3. NM_001281725.3 → NP_001268654.1  biotinidase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001268654.1

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS63565.1
      UniProtKB/Swiss-Prot
      A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
      Related
      ENSP00000394277.2, ENST00000436193.6
      Conserved Domains (1) summary
      cd07567
      Location:38 → 341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)

    4. NM_001281726.3 → NP_001268655.2  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      Consensus CDS
      CCDS87052.2
      UniProtKB/TrEMBL
      A0A2R8Y5J9, A0A5F9ZH97, F8WCU5
      Related
      ENSP00000403775.3, ENST00000417015.3
      Conserved Domains (1) summary
      cl11424
      Location:38 → 141
      nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes

    5. NM_001323582.2 → NP_001310511.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS63565.1
      UniProtKB/Swiss-Prot
      A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
      Related
      ENSP00000306477.6, ENST00000303498.10
      Conserved Domains (1) summary
      cd07567
      Location:38 → 341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)

    6. NM_001370658.1 → NP_001357587.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS63565.1
      UniProtKB/Swiss-Prot
      A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
      Related
      ENSP00000495254.2, ENST00000643237.3
      Conserved Domains (1) summary
      cd07567
      Location:38 → 341
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)

    7. NM_001370752.1 → NP_001357681.1  biotinidase isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS93220.1
      UniProtKB/TrEMBL
      A0A5F9ZH15, A0A5F9ZH80
      Related
      ENSP00000500131.1, ENST00000672427.1
      Conserved Domains (1) summary
      cd07567
      Location:38 → 335
      biotinidase_like; biotinidase and vanins (class 4 nitrilases)

    8. NM_001370753.1 → NP_001357682.1  biotinidase isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Consensus CDS
      CCDS93221.1
      UniProtKB/TrEMBL
      A0A5F9ZH97, A0A5F9ZHR1
      Related
      ENSP00000500530.1, ENST00000672760.1
      Conserved Domains (1) summary
      cl11424
      Location:38 → 133
      nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes

    9. NM_001407364.1 → NP_001394293.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    10. NM_001407365.1 → NP_001394294.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      Related
      ENSP00000397113.2, ENST00000427382.2

    11. NM_001407366.1 → NP_001394295.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    12. NM_001407367.1 → NP_001394296.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    13. NM_001407368.1 → NP_001394297.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    14. NM_001407369.1 → NP_001394298.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    15. NM_001407370.1 → NP_001394299.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    16. NM_001407371.1 → NP_001394300.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    17. NM_001407372.1 → NP_001394301.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    18. NM_001407373.1 → NP_001394302.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    19. NM_001407374.1 → NP_001394303.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    20. NM_001407375.1 → NP_001394304.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    21. NM_001407376.1 → NP_001394305.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    22. NM_001407377.1 → NP_001394306.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    23. NM_001407378.1 → NP_001394307.1  biotinidase isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    24. NM_001407379.1 → NP_001394308.1  biotinidase isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      UniProtKB/TrEMBL
      A0A5F9ZH80

    25. NM_001407380.1 → NP_001394309.1  biotinidase isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      UniProtKB/TrEMBL
      A0A5F9ZHF5
      Related
      ENSP00000500288.1, ENST00000673467.1

    26. NM_001407381.1 → NP_001394310.1  biotinidase isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129

    27. NM_001407382.1 → NP_001394311.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5
      Related
      ENSP00000518999.1, ENST00000713695.1

    28. NM_001407383.1 → NP_001394312.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5

    29. NM_001407384.1 → NP_001394313.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5

    30. NM_001407386.1 → NP_001394315.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5

    31. NM_001407388.1 → NP_001394317.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5

    32. NM_001407390.1 → NP_001394319.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5

    33. NM_001407392.1 → NP_001394321.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5

    34. NM_001407394.1 → NP_001394323.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5
      Related
      ENSP00000494864.1, ENST00000482824.3

    35. NM_001407395.1 → NP_001394324.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5

    36. NM_001407396.1 → NP_001394325.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5

    37. NM_001407397.1 → NP_001394326.1  biotinidase isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129
      UniProtKB/TrEMBL
      A0A2R8Y5J9, F8WCU5
      Related
      ENSP00000500267.1, ENST00000672336.1

    38. NM_001407398.1 → NP_001394327.1  biotinidase isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      UniProtKB/TrEMBL
      A0A5F9ZH57
      Related
      ENSP00000500069.2, ENST00000671928.2

    39. NM_001407399.1 → NP_001394328.1  biotinidase isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      UniProtKB/TrEMBL
      A0A5F9ZH57

    40. NM_001407400.1 → NP_001394329.1  biotinidase isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950

    41. NM_001407401.1 → NP_001394330.1  biotinidase isoform 12 precursor

      Status: REVIEWED

      Source sequence(s)
      AC027129, AC090950
      UniProtKB/TrEMBL
      A0A5F9ZHE9
      Related
      ENSP00000500325.1, ENST00000673620.1

    RNA

    1. NR_176358.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC027129

    2. NR_176359.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC027129

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      15601361..15722516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      15603680..15724834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43251.2 GenPept UniProtKB/Swiss-Prot:P43251

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous