BTD
entrez
686
canonical
uniprot
P43251
canonical
ensembl
ENSG00000169814
resolver
ensp
ENSP00000306477
resolver
ensp
ENSP00000388212
resolver
ensp
ENSP00000394277
resolver
ensp
ENSP00000397113
resolver
ensp
ENSP00000400995
resolver
ensp
ENSP00000403775
resolver
ensp
ENSP00000494864
resolver
ensp
ENSP00000495254
resolver
ensp
ENSP00000495866
resolver
ensp
ENSP00000500069
resolver
ensp
ENSP00000500131
resolver
ensp
ENSP00000500267
resolver
ensp
ENSP00000500288
resolver
ensp
ENSP00000500325
resolver
ensp
ENSP00000500530
resolver
ensp
ENSP00000518998
resolver
ensp
ENSP00000518999
resolver
ensp
ENSP00000570285
resolver
ensp
ENSP00000570289
resolver
ensp
ENSP00000570292
resolver
ensp
ENSP00000570294
resolver
ensp
ENSP00000570296
resolver
ensp
ENSP00000570297
resolver
ensp
ENSP00000570298
resolver
ensp
ENSP00000606822
resolver
ensp
ENSP00000606823
resolver
ensp
ENSP00000620933
resolver
ensp
ENSP00000620935
resolver
ensp
ENSP00000676071
resolver
ensp
ENSP00000676072
resolver
ensp
ENSP00000676073
resolver
ensp
ENSP00000676074
resolver
enst
ENST00000417015
resolver
enst
ENST00000482824
resolver
enst
ENST00000671928
resolver
enst
ENST00000672336
resolver
enst
ENST00000672427
resolver
enst
ENST00000672760
resolver
enst
ENST00000673467
resolver
enst
ENST00000673620
resolver
enst
ENST00000713694
resolver
enst
ENST00000713695
resolver
genesymbol
BTD
resolver
hgnc
HGNC:1122
resolver
uniprot
A0A2R8Y5J9
resolver
uniprot
A0A5F9ZH57
resolver
uniprot
A0A5F9ZH80
resolver
uniprot
A0A5F9ZHE9
resolver
uniprot
A0A5F9ZHF5
resolver
uniprot
A0A5F9ZHR1
resolver
uniprot
A6NHF2
resolver
uniprot
B2R865
resolver
uniprot
B4DFX1
resolver
uniprot
B4DLJ9
resolver
uniprot
B7Z7C9
resolver
uniprot
F8W1Q3
resolver
uniprot
F8WCU5
resolver
uniprot
Q96EM9
resolver
uniprot_entry
A0A2R8Y5J9_HUMAN
resolver
uniprot_entry
A0A5F9ZH57_HUMAN
resolver
uniprot_entry
A0A5F9ZH80_HUMAN
resolver
uniprot_entry
A0A5F9ZHE9_HUMAN
resolver
uniprot_entry
A0A5F9ZHF5_HUMAN
resolver
uniprot_entry
A0A5F9ZHR1_HUMAN
resolver
uniprot_entry
BTD_HUMAN
resolver
uniprot_sec
A6NHF2
resolver
uniprot_sec
B2R865
resolver
uniprot_sec
B4DFX1
resolver
uniprot_sec
B4DLJ9
resolver
uniprot_sec
B7Z7C9
resolver
uniprot_sec
F8W1Q3
resolver
uniprot_sec
F8WCU5
resolver
uniprot_sec
Q96EM9
resolver
amino_acid_sequence
MSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD
uniprot
proteins
disease_involvement
DISEASE: Biotinidase deficiency (BTD deficiency) [MIM:253260]: 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. 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. {ECO:0000269|PubMed:10206677, ECO:0000269|PubMed:9099842, ECO:0000269|PubMed:9654207}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.1.12
uniprot
proteins
function
FUNCTION: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. {ECO:0000305|PubMed:9099842, ECO:0000305|PubMed:9654207}.
uniprot
proteins
mass_dalton
58913
uniprot
proteins
protein_family
BTD/VNN family
uniprot
proteins
protein_family
Carbon-nitrogen hydrolase superfamily
uniprot
proteins
pubmed
10206677
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
7509806
uniprot
proteins
pubmed
9099842
uniprot
proteins
pubmed
9530634
uniprot
proteins
pubmed
9654207
uniprot
proteins
sequence_length
523
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000305|PubMed:9099842, ECO:0000305|PubMed:9654207}.
uniprot
proteins