P43251 · BTD_HUMAN
- ProteinBiotinidase
- GeneBTD
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids543 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
Catalytic activity
- biocytin + H2O = biotin + L-lysine
- biotin amide + H2O = biotin + NH4+This reaction proceeds in the forward direction.
Features
Showing features for active site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Active site | 112 | Proton acceptor | ||||
Sequence: E | ||||||
Active site | 212 | Proton donor | ||||
Sequence: K | ||||||
Active site | 245 | Nucleophile | ||||
Sequence: C |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | extracellular exosome | |
Cellular Component | extracellular region | |
Cellular Component | extracellular space | |
Cellular Component | mitochondrial matrix | |
Molecular Function | biotinidase activity | |
Biological Process | biotin metabolic process | |
Biological Process | central nervous system development |
Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameBiotinidase
- EC number
- Short namesBiotinase
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP43251
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Biotinidase deficiency (BTD deficiency)
- Note
- DescriptionA 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. Biotinidase 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.
- See alsoMIM:253260
Natural variants in BTD deficiency
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_005113 | 128 | F>V | in BTD deficiency; dbSNP:rs397514355 | |
VAR_005114 | 171 | A>T | in BTD deficiency; dbSNP:rs13073139 | |
VAR_005115 | 228 | D>Y | in BTD deficiency; dbSNP:rs397514380 | |
VAR_005116 | 323 | H>R | in BTD deficiency; partial; dbSNP:rs397507176 | |
VAR_005117 | 444 | D>H | in BTD deficiency; profound and partial; 52% decrease in biotinyl-transferase activity; dbSNP:rs13078881 | |
VAR_005118 | 451 | G>D | in BTD deficiency; partial; dbSNP:rs397514419 | |
VAR_005119 | 456 | Q>H | in BTD deficiency; dbSNP:rs80338685 | |
VAR_005120 | 532 | T>M | in BTD deficiency; dbSNP:rs104893688 | |
VAR_005121 | 538 | R>C | in BTD deficiency; not detectable protein levels; loss of biotinyl-transferase activity; dbSNP:rs80338686 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_005113 | 128 | in BTD deficiency; dbSNP:rs397514355 | |||
Sequence: F → V | ||||||
Natural variant | VAR_005114 | 171 | in BTD deficiency; dbSNP:rs13073139 | |||
Sequence: A → T | ||||||
Natural variant | VAR_005115 | 228 | in BTD deficiency; dbSNP:rs397514380 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_005116 | 323 | in BTD deficiency; partial; dbSNP:rs397507176 | |||
Sequence: H → R | ||||||
Natural variant | VAR_056238 | 391 | in dbSNP:rs35034250 | |||
Sequence: P → S | ||||||
Natural variant | VAR_005117 | 444 | in BTD deficiency; profound and partial; 52% decrease in biotinyl-transferase activity; dbSNP:rs13078881 | |||
Sequence: D → H | ||||||
Natural variant | VAR_005118 | 451 | in BTD deficiency; partial; dbSNP:rs397514419 | |||
Sequence: G → D | ||||||
Natural variant | VAR_005119 | 456 | in BTD deficiency; dbSNP:rs80338685 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_005120 | 532 | in BTD deficiency; dbSNP:rs104893688 | |||
Sequence: T → M | ||||||
Natural variant | VAR_005121 | 538 | in BTD deficiency; not detectable protein levels; loss of biotinyl-transferase activity; dbSNP:rs80338686 | |||
Sequence: R → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 10 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-41 | |||||
Sequence: MAHAHIQGGRRAKSRFVVCIMSGARSKLALFLCGCYVVALG | ||||||
Chain | PRO_0000019707 | 42-543 | Biotinidase | |||
Sequence: AHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD | ||||||
Glycosylation | 119 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 150 | N-linked (GlcNAc...) (complex) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 203 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 349 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 402 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 489 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P43251 | MYO1D O94832 | 2 | EBI-2907478, EBI-355634 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 72-351 | CN hydrolase | ||||
Sequence: NPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENAT |
Sequence similarities
Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 4 isoforms produced by Alternative splicing.
P43251-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length543
- Mass (Da)61,133
- Last updated2009-04-14 v2
- Checksum1A999893A0784944
P43251-2
- Name2
- Differences from canonical
- 1-14: MAHAHIQGGRRAKS → MARKETQLIIKMNHLA
P43251-3
- Name3
- Differences from canonical
- 1-13: MAHAHIQGGRRAK → MPEGGGTSRRLLPMQ
P43251-4
- Name4
- Differences from canonical
- 1-20: Missing
Computationally mapped potential isoform sequences
There are 10 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0AAQ5BGS3 | A0AAQ5BGS3_HUMAN | BTD | 90 | ||
A0A2R8Y5J9 | A0A2R8Y5J9_HUMAN | BTD | 159 | ||
C9JSN9 | C9JSN9_HUMAN | BTD | 251 | ||
A0A5F9ZH15 | A0A5F9ZH15_HUMAN | BTD | 344 | ||
A0A5F9ZH57 | A0A5F9ZH57_HUMAN | BTD | 152 | ||
A0A5F9ZH80 | A0A5F9ZH80_HUMAN | BTD | 364 | ||
A0A5F9ZHR1 | A0A5F9ZHR1_HUMAN | BTD | 141 | ||
A0A5F9ZH97 | A0A5F9ZH97_HUMAN | BTD | 137 | ||
A0A5F9ZHE9 | A0A5F9ZHE9_HUMAN | BTD | 140 | ||
A0A5F9ZHF5 | A0A5F9ZHF5_HUMAN | BTD | 203 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_054926 | 1-13 | in isoform 3 | |||
Sequence: MAHAHIQGGRRAK → MPEGGGTSRRLLPMQ | ||||||
Alternative sequence | VSP_054925 | 1-14 | in isoform 2 | |||
Sequence: MAHAHIQGGRRAKS → MARKETQLIIKMNHLA | ||||||
Alternative sequence | VSP_055921 | 1-20 | in isoform 4 | |||
Sequence: Missing | ||||||
Sequence conflict | 379 | in Ref. 3; BAH13565 | ||||
Sequence: H → Y |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U03274 EMBL· GenBank· DDBJ | AAC04318.1 EMBL· GenBank· DDBJ | mRNA | ||
AF018631 EMBL· GenBank· DDBJ | AAC21679.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF018630 EMBL· GenBank· DDBJ | AAC21679.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK294301 EMBL· GenBank· DDBJ | BAG57582.1 EMBL· GenBank· DDBJ | mRNA | ||
AK297033 EMBL· GenBank· DDBJ | BAG59561.1 EMBL· GenBank· DDBJ | mRNA | ||
AK301838 EMBL· GenBank· DDBJ | BAH13565.1 EMBL· GenBank· DDBJ | mRNA | ||
AK313252 EMBL· GenBank· DDBJ | BAG36062.1 EMBL· GenBank· DDBJ | mRNA | ||
AC027129 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471055 EMBL· GenBank· DDBJ | EAW64254.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC012099 EMBL· GenBank· DDBJ | AAH12099.1 EMBL· GenBank· DDBJ | mRNA |