Home Search Reports Help

Gene Model: Btd

NomenclatureGenomic Location
SymbolBtdChromosome2
NameBiotinidaseLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 22 Mbp

Molecular Function

Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation

Biotin amide + H2O = biotin + NH3.

Molecular Function Terms:

catalytic activity
   hydrolase activity
      hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
         hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides

Human Disease Association

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.

Predicted Transcript
     1 AGATTCATGGCAAAAATCACTTTTGGCATCAGCTGCACACTTGTTCTGTTCTGTTACCAA
    61 GTTCTCTCGGTAGAAGTTTGCAGAAGGGAACATTTTGTTGCTGCTGTGTATGAACATCAT
   121 GTCATTCTGAATCCCAACCCAACAGCTGTTACTGATCGACAGTCTGCCTTGGACCTGATG
   181 AAGAAAAACCTAGACATTTATGAAGAGCAAGTGATTGCTGCCGCTGAACAGGGGGCGCAA
   241 ATAATCATCTTTCCTGAAGATGGAATCCAGGGCTTCAATTTCACCAGAGCATCCATTTAT
   301 CCTTACTTGGACCTCATCCCATTCCCTGATTCTGTGACATGGAATCCATGCAAAGAAGCA
   361 TATTTATTCAATGACACTGAGGTTCTCCATCGACTCAGCTGTATGGCTCTGAAGAATCAA
   421 CTGTTTTTAGTGGCAAACGTGGGAACCAAGCAGTTCTGTGAGCCCAGTGATCCCTCCTGC
   481 CCACCAGATGGAAGATACCAGTTTAATACCAATGTAGTGTTTAGTGACAATGGCACACTC
   541 ATAGCCAGATACCGAAAACAAAACCTGTACTTTGAATATGCCTTCAATACTCCAGCGGAA
   601 GTAGATTATATTGTTTTTGATACCCCTTTTGCAGGTAAATTTGGAATCTTCACTTGCTTT
   661 GATATCCTGTTTTATGAACCAGCTGTACCCCTTATAAAGCAATACAATGTAAAACAGGTT
   721 GTTTATCCTACTGCATGGATGAACCAGTTACCACTTTTGTCAGCTGTAGAATTTCAACAA
   781 GCTTTTGCAACGGCTTTTAGTATCCATCTTCTAGCAGCAAACATCCATCATCCAGACCTG
   841 GGCATGACAGGCAGTGGCATATATACACCGACAAAATCTTTCATTTTTTATGATATGGAA
   901 AGTGTTAACGGTAAGCTTATAGTGGCAGAAATCCCTGTTATATTAGAACATGAAACCCAA
   961 ATGGCGAACTCTGTAATATCTAACATACAAAAGAGCTTTTCAAGCTTCCCTATGGACACA
  1021 CTCGTTTGTCACAAAGAGGATCAAAAAGACTGCAGTGAGATAGCAGAAGGAGCATCCAAA
  1081 GCAGCACTGCACATTTTTTATGGTGAAATGATGTATGATAATTTCACTTTAGCACCCATT
  1141 CTGGAAGCCGAAGGAAATATCCACGTCTGTTCCAATACACTTTGTTGTTATTTAAATTAC
  1201 CAGAGATTGGATTCATCTAATGAATTGTATGTTTTAGGGGTGTTTGATGACCTACACACA
  1261 GTACATGGAACGTACTATGTACAAGCCTGTGTGTTAGTAAAATGTGGTGGATCTAACTAC
  1321 ACTACTTGTGGACAGGAAGTGACAAAGGCCACTGGAATGATAGATTTTCAGCTTCAAGGA
  1381 AATTTCACAACTGCTTTTATCTTTCCCCTGTTACTAAAATCTGATATCACACTAGATTTT
  1441 GCTGACCATCTGGGCTGGAAAAATAACTATTATGTCATGCAGAAAAGGGGAGGATCTTCT
  1501 GGCTTGATAACAGCTGGTTTATATGGACGATGGTATGAAAAGGAC

Predicted Protein Product
RFMAKITFGISCTLVLFCYQVLSVEVCRREHFVAAVYEHHVILNPNPTAVTDRQSALDLM
KKNLDIYEEQVIAAAEQGAQIIIFPEDGIQGFNFTRASIYPYLDLIPFPDSVTWNPCKEA
YLFNDTEVLHRLSCMALKNQLFLVANVGTKQFCEPSDPSCPPDGRYQFNTNVVFSDNGTL
IARYRKQNLYFEYAFNTPAEVDYIVFDTPFAGKFGIFTCFDILFYEPAVPLIKQYNVKQV
VYPTAWMNQLPLLSAVEFQQAFATAFSIHLLAANIHHPDLGMTGSGIYTPTKSFIFYDME
SVNGKLIVAEIPVILEHETQMANSVISNIQKSFSSFPMDTLVCHKEDQKDCSEIAEGASK
AALHIFYGEMMYDNFTLAPILEAEGNIHVCSNTLCCYLNYQRLDSSNELYVLGVFDDLHT
VHGTYYVQACVLVKCGGSNYTTCGQEVTKATGMIDFQLQGNFTTAFIFPLLLKSDITLDF
ADHLGWKNNYYVMQKRGGSSGLITAGLYGRWYEKD
Protein Alignment to Mouse
sp|Q8CIF4|BTD_MOUSE Biotinidase OS=Mus musculus GN=Btd PE=1 SV=2
      MGI:1347001 Btd biotinidase (Chr 14)
        Length = 520

 Score = 1569 (557.4 bits), Expect = 8.0e-162, P = 8.0e-162
 Identities = 296/515 (57%), Positives = 368/515 (71%)

Query:     4 AKITFGISCTLVLFCYQVLSVEVCRREHFVAAVYEHHVILNPNPTAVTDRQSALDLMKKN 63
             A   F + C+ +       S E    E++VAAVYEH  +L+PNP  +  RQ AL+LMK+N
Sbjct:     7 APALFFLGCSALALGVSSASQEHREAEYYVAAVYEHPSVLSPNPLELVSRQEALELMKQN 66

Query:    64 LDIYXXXXXXXXXXXXXXXXFPEDGIQGFNFTRASIYPYLDLIPFPDSVTWNPCKEAYLF 123
             LD+Y                FPEDGI GFNFTR SIYP+LD +P P  V WNPC E + F
Sbjct:    67 LDVYEQQVMAAAQKGVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPKLVRWNPCLEPFRF 126

Query:   124 NDTEVLHRLSCMALKNQLFLVANVGTKQFCEPSDPSCPPDGRYQFNTNVVFSDNGTLIAR 183
             NDTEVL RLSCMA+K  +FLVAN+GTKQ C  SDP CP DGRYQFNTNVVFSDNGTL+ R
Sbjct:   127 NDTEVLQRLSCMAIKGGMFLVANLGTKQPCLSSDPGCPQDGRYQFNTNVVFSDNGTLVDR 186

Query:   184 YRKQNLYFEYAFNTPAEVDYIVFDTPFAGKFGIFTCFDILFYEPAVPLIKQYNVKQVVYP 243
             YRK NLYFE AF+TPA VD I FDTPFAGKFG+FTCFDILF++PAV L++ + VK +VYP
Sbjct:   187 YRKHNLYFEAAFDTPANVDLITFDTPFAGKFGVFTCFDILFFDPAVRLLRDFEVKHIVYP 246

Query:   244 TAWMNQLPLLSAVEFQQAFATAFSIHLLAANIHHPDLGMTGSGIYTPTKSFIFYDMESVN 303
             TAWMNQLPLL+A+E Q+AFATAF +++LAANIHHP LGMTGSGI+TP KSF ++DM+   
Sbjct:   247 TAWMNQLPLLAAIEIQKAFATAFGVNVLAANIHHPTLGMTGSGIHTPLKSFWYHDMDDPK 306

Query:   304 GKLIVAEIPVILEHETQMANSVISNIQKSFSSFPMDTLVCHKEDQKDCSEI-AEGASKAA 362
             G LI+A++    +  T   N+  S +  S   F +  L      +KD  E+  + A+K  
Sbjct:   307 GHLIIAQVATNPQGLTGTGNTT-SEMDPSHRKF-LKILSGDPYCEKDAQEVHCDEAAKWN 364

Query:   363 LHI---FYGEMMYDNFTLAPILEAEGNIHVCSNTLCCYLNYQRLDSSNELYVLGVFDDLH 419
             +++   F+ EMMYDNFTL P+   EG++ VCSN+LCC+L Y+R   S ELY LGVFD LH
Sbjct:   365 VNVPPTFHSEMMYDNFTLVPVWGTEGHLQVCSNSLCCHLLYERPTLSKELYALGVFDGLH 424

Query:   420 TVHGTYYVQACVLVKCGGSNYTTCGQEVTKATGMIDFQLQGNFTTAFIFPLLLKSDITLD 479
             TVHGTYY+Q C LVKCGG  + TCGQE+T+A G+ DF L GNF+T +IFPL L S +TLD
Sbjct:   425 TVHGTYYIQTCALVKCGGLGFDTCGQEITEAEGLFDFHLWGNFSTLYIFPLFLTSGMTLD 484

Query:   480 FADHLGWKNNYYVMQKRGGSSGLITAGLYGRWYEK 514
               D LGW+N++Y ++KRG SSGL+TA LYGR YE+
Sbjct:   485 TPDQLGWENDHYFLRKRGLSSGLVTAALYGRLYER 519