Human Gene BTD (ENST00000643237.3_11) from GENCODE V47lift37
Description: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. (from UniProt P43251)
Gencode Transcript: ENST00000643237.3_11
Gencode Gene: ENSG00000169814.18_17
Transcript (Including UTRs)
Position: hg19 chr3:15,643,252-15,695,221 Size: 51,970 Total Exon Count: 4 Strand: +
Coding Region
Position: hg19 chr3:15,676,947-15,686,995 Size: 10,049 Coding Exon Count: 3
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: BTD_HUMAN
DESCRIPTION: RecName: Full=Biotinidase; Short=Biotinase; EC=3.5.1.12; Flags: Precursor;
FUNCTION: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.CATALYTIC ACTIVITY: Biotin amide + H(2)O = biotin + NH(3).SUBCELLULAR LOCATION: Secreted, extracellular space.DISEASE: Defects in BTD are the cause of biotinidase deficiency (BTD deficiency) [MIM:253260] ; also called late-onset multiple carboxylase deficiency. BTD deficiency is a juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. BTD deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.SIMILARITY: Belongs to the CN hydrolase family. BTD/VNN subfamily.SIMILARITY: Contains 1 CN hydrolase domain.CAUTION: It is uncertain whether Met-1 or Met-21 is the initiator.WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BTD";
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: BTD
Diseases sorted by gene-association score: biotinidase deficiency * (1724), multiple carboxylase deficiency (36), seborrheic dermatitis (30), holocarboxylase synthetase deficiency (25), biotin deficiency (15), organic acidemia (14), maple syrup urine disease, type ii (12), phenylketonuria (11), metabolic acidosis (10), spinal cord disease (10), optic atrophy plus syndrome (9), tyrosinemia (8), acyl-coa dehydrogenase, medium chain, deficiency of (7), optic nerve disease (7), carbohydrate metabolic disorder (6), dermatitis (5), lipoprotein lipase deficiency (5)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR012101 - Biotinidase_euk
IPR003010 - C-N_Hydrolase
Pfam Domains: PF00795 - Carbon-nitrogen hydrolase
PF19018 - Vanin C-terminal domain
SCOP Domains: 56317 - Carbon-nitrogen hydrolase
ModBase Predicted Comparative 3D Structure on P43251
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0016787 hydrolase activity
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
GO:0047708 biotinidase activity
Biological Process: GO:0006768 biotin metabolic process
GO:0006807 nitrogen compound metabolic process
GO:0007417 central nervous system development
Cellular Component: GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005759 mitochondrial matrix
GO:0070062 extracellular exosome
Descriptions from all associated GenBank mRNAs
AK297033 - Homo sapiens cDNA FLJ51892 complete cds, highly similar to Biotinidase precursor (EC 3.5.1.12).AK313252 - Homo sapiens cDNA, FLJ93758, Homo sapiens biotinidase (BTD), mRNA.AK294301 - Homo sapiens cDNA FLJ59679 complete cds, highly similar to Biotinidase precursor (EC 3.5.1.12).U03274 - Homo sapiens biotinidase mRNA, complete cds.BC012099 - Homo sapiens biotinidase, mRNA (cDNA clone MGC:20073 IMAGE:4559618), complete cds.CU680214 - Synthetic construct Homo sapiens gateway clone IMAGE:100019828 5' read BTD mRNA.KJ890783 - Synthetic construct Homo sapiens clone ccsbBroadEn_00177 BTD gene, encodes complete protein.KR710439 - Synthetic construct Homo sapiens clone CCSBHm_00012604 BTD (BTD) mRNA, encodes complete protein.KR710440 - Synthetic construct Homo sapiens clone CCSBHm_00012614 BTD (BTD) mRNA, encodes complete protein.KR710441 - Synthetic construct Homo sapiens clone CCSBHm_00012633 BTD (BTD) mRNA, encodes complete protein.KR710442 - Synthetic construct Homo sapiens clone CCSBHm_00012663 BTD (BTD) mRNA, encodes complete protein.AK301838 - Homo sapiens cDNA FLJ50907 complete cds, highly similar to Biotinidase precursor (EC 3.5.1.12).JD112941 - Sequence 93965 from Patent EP1572962.JD550113 - Sequence 531137 from Patent EP1572962.JD393288 - Sequence 374312 from Patent EP1572962.JD339794 - Sequence 320818 from Patent EP1572962.JD516421 - Sequence 497445 from Patent EP1572962.JD366071 - Sequence 347095 from Patent EP1572962.JD041864 - Sequence 22888 from Patent EP1572962.JD202516 - Sequence 183540 from Patent EP1572962.JD515959 - Sequence 496983 from Patent EP1572962.AK096254 - Homo sapiens cDNA FLJ38935 fis, clone NT2NE2014681.JD042779 - Sequence 23803 from Patent EP1572962.JD267544 - Sequence 248568 from Patent EP1572962.JD048356 - Sequence 29380 from Patent EP1572962.JD051394 - Sequence 32418 from Patent EP1572962.JD301744 - Sequence 282768 from Patent EP1572962.JD521226 - Sequence 502250 from Patent EP1572962.JD361044 - Sequence 342068 from Patent EP1572962.JD199822 - Sequence 180846 from Patent EP1572962.JD039368 - Sequence 20392 from Patent EP1572962.JD499385 - Sequence 480409 from Patent EP1572962.JD361131 - Sequence 342155 from Patent EP1572962.JD182991 - Sequence 164015 from Patent EP1572962.JD040735 - Sequence 21759 from Patent EP1572962.JD431555 - Sequence 412579 from Patent EP1572962.JD168455 - Sequence 149479 from Patent EP1572962.JD208336 - Sequence 189360 from Patent EP1572962.JD490174 - Sequence 471198 from Patent EP1572962.JD564765 - Sequence 545789 from Patent EP1572962.JD519292 - Sequence 500316 from Patent EP1572962.JD239616 - Sequence 220640 from Patent EP1572962.JD367140 - Sequence 348164 from Patent EP1572962.JD261184 - Sequence 242208 from Patent EP1572962.JD415107 - Sequence 396131 from Patent EP1572962.JD120696 - Sequence 101720 from Patent EP1572962.JD137297 - Sequence 118321 from Patent EP1572962.JD383355 - Sequence 364379 from Patent EP1572962.JD334944 - Sequence 315968 from Patent EP1572962.JD508579 - Sequence 489603 from Patent EP1572962.JD418732 - Sequence 399756 from Patent EP1572962.JD091705 - Sequence 72729 from Patent EP1572962.JD435275 - Sequence 416299 from Patent EP1572962.JD284500 - Sequence 265524 from Patent EP1572962.JD548245 - Sequence 529269 from Patent EP1572962.JD370884 - Sequence 351908 from Patent EP1572962.JD168450 - Sequence 149474 from Patent EP1572962.JD518882 - Sequence 499906 from Patent EP1572962.JD100945 - Sequence 81969 from Patent EP1572962.JD142589 - Sequence 123613 from Patent EP1572962.JD196144 - Sequence 177168 from Patent EP1572962.JD140161 - Sequence 121185 from Patent EP1572962.JD222985 - Sequence 204009 from Patent EP1572962.JD222986 - Sequence 204010 from Patent EP1572962.JD498027 - Sequence 479051 from Patent EP1572962.JD498026 - Sequence 479050 from Patent EP1572962.JD543964 - Sequence 524988 from Patent EP1572962.JD543965 - Sequence 524989 from Patent EP1572962.JD543966 - Sequence 524990 from Patent EP1572962.JD079083 - Sequence 60107 from Patent EP1572962.JD222172 - Sequence 203196 from Patent EP1572962.JD194889 - Sequence 175913 from Patent EP1572962.JD136236 - Sequence 117260 from Patent EP1572962.JD243268 - Sequence 224292 from Patent EP1572962.JD079662 - Sequence 60686 from Patent EP1572962.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, BTD , BTD_HUMAN, ENST00000643237.1, ENST00000643237.2, F8W1Q3, NM_001407374, P43251, Q96EM9, uc328jlu.1, uc328jlu.2UCSC ID: ENST00000643237.3_11RefSeq Accession: NM_001370658.1
Protein: P43251
(aka BTD_HUMAN)
GeneReviews for This Gene
GeneReviews article(s) related to gene BTD:biotin (Biotinidase Deficiency)dystonia-ov (Hereditary Dystonia Overview)
Gene Model Information
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.