BTD R79C [mitochondrial matrix]

Stable Identifier
R-HSA-4225085
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
Biotinidase, BTD_HUMAN, BTD
Icon
BTD R79C [mitochondrial matrix] icon
BTD R79C [mitochondrial matrix] icon
Locations in the PathwayBrowser
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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
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
Other forms of this molecule
BTD Q456H [mitochondrial matrix]
BTD C33Ffs*36 [mitochondrial matrix]
BTD A171T [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-arginine 79 replaced with L-cysteine
Coordinate
79
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
Interactors (3)
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