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FLASH GENE
Symbol BTD contributors: - updated : 12-01-2007
HGNC name biotinidase
HGNC id 1122
Corresponding disease
BTD multiple carboxylase deficiency, late onset
Location 3p25      Physical location : 15.643.254 - 15.687.324
EC.number 3.5.1.12
DNA
TYPE functioning gene
STRUCTURE 44.00 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box)
MAPPING cloned Y linked   status confirmed
Map pter - D3S3473 - D3S1286 -[D3S3613 - D3S3510 ] - cen
Authors Blanton (00)
Text [BTD ]
Physical map
WNT7A 3p25 wingless-type MMTV integration site family, member 7A FLJ35107 3p25.1 hypothetical protein FLJ35107 LOC391515 3 similar to putative pheromone receptor gV1R1 FLJ31709 MGC3222 3p25.1 hypothetical protein MGC3222 XPC 3p25.1 xeroderma pigmentosum, complementation group C LSM3 3p25.1 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) SLC6A6 3p25-p24 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 GRIP2 3p24-p23 glutamate receptor interacting protein 2 LOC131973 3p25.1 similar to rhomboid family 1; epidermal growth factor receptor, related sequence LOC51244 3p25.1 hypothetical protein LOC51244 DKFZP434N1817 3p25.1 hypothetical protein DKFZp434N1817 FGD5 3p25.1 FYVE, RhoGEF and PH domain containing 5 NR2C2 3p25 nuclear receptor subfamily 2, group C, member 2 MRPS25 3p25 mitochondrial ribosomal protein S25 ZFYVE20 3p25.1 zinc finger, FYVE domain containing 20 LOC344875 3p25.1 similar to RIKEN cDNA E330026B02 CAPN7 3p24 calpain 7 SH3BP5 1q43 SH3-domain binding protein 5 (BTK-associated) LOC389097 3 similar to Nonhistone chromosomal protein HMG-17 (High-mobility group nucleosome binding domain 2) MGC24132 3p25.1 hypothetical protein MGC24132 EAF1 3q25.1 ELL associated factor 1 COLQ 3p24.2 collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase HPCL2 3p25.1 2-hydroxyphytanoyl-CoA lyase BTD 3p25 biotinidase KIAA0379 3p25.2-p24.2 biotinidase LOC131961 3p25.1 similar to inosine monophosphate dehydrogenase 1 isoform a; sWSS2608 GALNT7 4q31.1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) MGC15763 3p25-p24 hypothetical protein BC008322 RAFTLIN 3p25.1 raft-linking protein DAZL 3p24 deleted in azoospermia-like PLCL2 3p24.3 phospholipase C-like 2 TBC1D5 3p24.3 TBC1 domain family, member 5
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   predominantly
Endocrineadrenal gland   predominantly
Nervousnervecranial nerve   
Urinarykidney   predominantly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text umbilical cord
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six potential N-glycosylation sites
  • at least nine isoforms differing from the degree of sialylation
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Vnn1
    Homologene
    FAMILY
  • CN hydrolase family
  • BTD/VNN subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular serum
    basic FUNCTION
  • catalyzing the recycling of biotin by cleaving biocytin (biotin epsilon lysine)
  • also biotinyl transferase activity
  • biotine carboxylase
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text development of central nervous system and epidermal differentiation
    PATHWAY
    metabolism vitamin
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    biotin (prosthetic group of the four carboxylases)
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BTD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS