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BTD (biotinidase)

Identity

Other names-
HGNC (Hugo) BTD
LocusID (NCBI) 686
Location 3p25.1
Location_base_pair Starts at 15643252 and ends at 15687328 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)BTD   1122
Cards
Entrez_Gene (NCBI)BTD  686  biotinidase
GeneCards (Weizmann)BTD
Ensembl (Hinxton)ENSG00000169814 [Gene_View]  chr3:15643252-15687328 [Contig_View]  BTD [Vega]
ICGC DataPortalENSG00000169814
cBioPortalBTD
AceView (NCBI)BTD
Genatlas (Paris)BTD
WikiGenes686
SOURCE (Princeton)NM_000060 NM_001281723 NM_001281724 NM_001281725 NM_001281726
Genomic and cartography
GoldenPath (UCSC)BTD  -  3p25.1   chr3:15643252-15687328 +  3p25.1   [Description]    (hg19-Feb_2009)
EnsemblBTD - 3p25.1 [CytoView]
Mapping of homologs : NCBIBTD [Mapview]
OMIM253260   609019   
Gene and transcription
Genbank (Entrez)AI391654 AK294301 AK297033 AK301838 AK313252
RefSeq transcript (Entrez)NM_000060 NM_001281723 NM_001281724 NM_001281725 NM_001281726
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_008019 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)BTD
Cluster EST : UnigeneHs.517830 [ NCBI ]
CGAP (NCI)Hs.517830
Alternative Splicing : Fast-db (Paris)GSHG0020624
Alternative Splicing GalleryENSG00000169814
Gene ExpressionBTD [ NCBI-GEO ]     BTD [ SEEK ]   BTD [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43251 (Uniprot)
NextProtP43251  [Medical]
With graphics : InterProP43251
Splice isoforms : SwissVarP43251 (Swissvar)
Catalytic activity : Enzyme3.5.1.12 [ Enzyme-Expasy ]   3.5.1.123.5.1.12 [ IntEnz-EBI ]   3.5.1.12 [ BRENDA ]   3.5.1.12 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CN_HYDROLASE (PS50263)   
Domains : Interpro (EBI)Biotinidase_euk [organisation]   C-N_Hydrolase [organisation]  
Related proteins : CluSTrP43251
Domain families : Pfam (Sanger)CN_hydrolase (PF00795)   
Domain families : Pfam (NCBI)pfam00795   
DMDM Disease mutations686
Blocks (Seattle)P43251
Human Protein AtlasENSG00000169814 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP43251
HPRD08359
IPIIPI00218413   IPI00926737   IPI00927683   IPI00744685   IPI00927266   IPI00926967   
Protein Interaction databases
DIP (DOE-UCLA)P43251
IntAct (EBI)P43251
FunCoupENSG00000169814
BioGRIDBTD
InParanoidP43251
Interologous Interaction database P43251
IntegromeDBBTD
STRING (EMBL)BTD
Ontologies - Pathways
Ontology : AmiGObiotin carboxylase activity  extracellular region  extracellular space  nucleolus  mitochondrial matrix  vitamin metabolic process  water-soluble vitamin metabolic process  biotin metabolic process  central nervous system development  epidermis development  perikaryon  small molecule metabolic process  apical part of cell  biotinidase activity  extracellular vesicular exosome  
Ontology : EGO-EBIbiotin carboxylase activity  extracellular region  extracellular space  nucleolus  mitochondrial matrix  vitamin metabolic process  water-soluble vitamin metabolic process  biotin metabolic process  central nervous system development  epidermis development  perikaryon  small molecule metabolic process  apical part of cell  biotinidase activity  extracellular vesicular exosome  
Pathways : KEGGBiotin metabolism    Vitamin digestion and absorption   
Protein Interaction DatabaseBTD
Wikipedia pathwaysBTD
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)BTD
snp3D : Map Gene to Disease686
SNP (GeneSNP Utah)BTD
SNP : HGBaseBTD
Genetic variants : HAPMAPBTD
Exome VariantBTD
1000_GenomesBTD 
ICGC programENSG00000169814 
Somatic Mutations in Cancer : COSMICBTD 
CONAN: Copy Number AnalysisBTD 
Mutations and Diseases : HGMDBTD
Genomic VariantsBTD  BTD [DGVbeta]
dbVarBTD
ClinVarBTD
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM253260    609019   
MedgenBTD
GENETestsBTD
Disease Genetic AssociationBTD
Huge Navigator BTD [HugePedia]  BTD [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneBTD
Homology/Alignments : Family Browser (UCSC)BTD
Phylogenetic Trees/Animal Genes : TreeFamBTD
Chemical/Protein Interactions : CTD686
Chemical/Pharm GKB GenePA25443
Clinical trialBTD
Cancer Resource (Charite)ENSG00000169814
Other databases
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
CoreMineBTD
iHOPBTD
OncoSearchBTD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:25:36 CEST 2014

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