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BTD A171T [mitochondrial matrix]
Stable Identifier
R-HSA-4225080
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
Biotinidase, BTD_HUMAN, BTD
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in biotin (Btn) metabolism (Homo sapiens)
Defective BTD causes biotidinase deficiency (Homo sapiens)
Defective mitochondrial BTD does not hydrolyse BCTN (Homo sapiens)
BTD mutants [mitochondrial matrix] (Homo sapiens)
BTD A171T [mitochondrial matrix] (Homo sapiens)
External Reference Information
External Reference
UniProt:P43251 BTD
Gene Names
BTD
Chain
signal peptide:1-41, chain:42-543
Reference Genes
BioGPS Gene:686 BTD
COSMIC (genes):BTD BTD
CTD Gene:686 BTD
dbSNP Gene:686 BTD
ENSEMBL:ENSG00000169814 BTD
ENSEMBL_homo_sapiens_GENE:ENSG00000169814.17 BTD
HGNC:1122 BTD
KEGG Gene (Homo sapiens):686 BTD
Monarch:686 BTD
NCBI Gene:686 BTD
OMIM:609019 BTD
UCSC:P43251 BTD
Reference Transcript
RefSeq:NM_001281725.2 BTD
RefSeq:NM_001281724.2 BTD
RefSeq:NM_000060.4 BTD
RefSeq:NM_001323582.1 BTD
RefSeq:XM_017007088.1 BTD
RefSeq:NM_001281723.2 BTD
RefSeq:XM_011534041.2 BTD
Other Identifiers
11718202_a_at
1557400_PM_at
1557400_at
16938112
204167_PM_at
204167_at
214117_PM_s_at
214117_s_at
229948_PM_at
229948_at
237190_PM_at
237190_at
2612402
2612403
2612404
2612405
2612410
2612411
2612412
2612415
2612416
2612418
2612423
2612424
2612425
2612426
2612427
2612429
2612431
2612433
2612435
2612437
2612439
2612440
2612441
2612443
2612445
2612446
37274_at
63408_i_at
63409_r_at
686
74058_at
74376_at
76518_at
8078147
89349_at
A_14_P104570
A_23_P155351
GE505928
GE58865
GO:0003824
GO:0005576
GO:0005615
GO:0005739
GO:0005759
GO:0006766
GO:0006768
GO:0006790
GO:0006807
GO:0007417
GO:0016787
GO:0016811
GO:0043226
GO:0047708
GO:0048856
GO:0070062
HMNXSV003012310
HMNXSV003035268
Hs.126807.0.A1_3p_at
Hs.128387.0.A1_3p_at
Hs.78885.1.S1_3p_a_at
Hs2.424890.1.S1_3p_s_at
ILMN_1699728
ILMN_1844142
PH_hs_0004550
TC03000097.hg
U03274_at
g4557372_3p_at
Participates
as a member of
BTD mutants [mitochondrial matrix] (Homo sapiens)
Other forms of this molecule
BTD R79C [mitochondrial matrix]
BTD Q456H [mitochondrial matrix]
BTD C33Ffs*36 [mitochondrial matrix]
BTD G34S [mitochondrial matrix]
BTD R538C [mitochondrial matrix]
BTD R79C [extracellular region]
BTD A171T [extracellular region]
BTD R538C [extracellular region]
BTD Q456H [extracellular region]
BTD C33Ffs*36 [extracellular region]
BTD [mitochondrial matrix]
BTD [extracellular region]
Modified Residues
Name
L-alanine 171 replaced with L-threonine
Coordinate
171
PsiMod
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
L-threonine residue [MOD:00026]
A protein modification that effectively converts a source amino acid residue to L-threonine.
Disease
Name
Identifier
Synonyms
vitamin metabolic disorder
DOID:0050718
Cross References
RefSeq
NP_001268654.1
,
NP_000051.1
,
NP_001268653.1
,
XP_016862577.1
,
NP_001268652.1
,
XP_011532343.1
,
NP_001310511.1
OpenTargets
ENSG00000169814
HPA
ENSG00000169814-BTD
GeneCards
P43251
Ensembl
ENST00000427382
,
ENST00000303498
,
ENSG00000169814
,
ENSP00000495866
,
ENSP00000306477
,
ENST00000643237
,
ENST00000437172
,
ENSP00000397113
,
ENSP00000388212
,
ENSP00000495254
,
ENSP00000400995
,
ENST00000449107
,
ENST00000646371
PRO
P43251
Pharos - Targets
P43251
Orphanet
15382
HMDB Protein
HMDBP00546
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:O94832 MYO1D
0.589
2
UniProt:Q9BS26 ERP44
2
ERP44 [extracellular region]
(R-HSA-6806302)
ERP44 [specific granule lumen]
(R-HSA-6799567)
0.527
2
UniProt:P01008 SERPINC1
8
SERPINC1(33-425) [plasma membrane]
(R-HSA-140815)
SERPINC1(426-464) [plasma membrane]
(R-HSA-140816)
SERPINC1 [plasma membrane]
(R-HSA-140792)
SERPINC1 [extracellular region]
(R-HSA-140807)
SERPINC1(33-425) [extracellular region]
(R-HSA-140814)
SERPINC1(426-464) [extracellular region]
(R-HSA-140817)
p-SERPINC1 [endoplasmic reticulum lumen]
(R-HSA-8957069)
SERPINC1 [endoplasmic reticulum lumen]
(R-HSA-8956773)
0.527
3
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