CYP24A1 R159Q [mitochondrial inner membrane]

Stable Identifier
R-HSA-5602018
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial inner membrane
Synonyms
Cytochrome P450 24A1, CP24_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q07973 CYP24A1
Gene Names
CYP24A1, CYP24
Chain
transit peptide:1-35, chain:36-514
Reference Genes
BioGPS Gene:1591 CYP24A1
COSMIC (genes):CYP24A1 CYP24A1
CTD Gene:1591 CYP24A1
dbSNP Gene:1591 CYP24A1
ENSEMBL:ENSG00000019186.10 CYP24A1
HGNC:2602 CYP24A1
KEGG Gene (Homo sapiens):1591 CYP24A1
Monarch:1591 CYP24A1
NCBI Gene:1591 CYP24A1
OMIM:126065 CYP24A1
UCSC:Q07973 CYP24A1
Reference Transcript
Other Identifiers
11732877_a_at
11737968_a_at
11752903_a_at
1591
16920497
206504_PM_at
206504_at
3910430
3910431
3910433
3910434
3910435
3910436
3910438
3910439
3910440
3910443
3910444
3910445
3910447
3910450
3910451
3910454
3910455
660_at
71346_at
8067140
A_23_P28815
A_24_P356930
A_33_P3369401
GE57625
GO:0001649
GO:0004497
GO:0005506
GO:0005622
GO:0005737
GO:0005739
GO:0005743
GO:0006629
GO:0006766
GO:0008403
GO:0010430
GO:0016491
GO:0016705
GO:0020037
GO:0023052
GO:0030154
GO:0030342
GO:0033280
GO:0042359
GO:0042369
GO:0043226
GO:0046872
GO:0062180
GO:0062181
GO:0070561
GO:0070576
GO:0070643
GO:0071305
HMNXSV003013408
ILMN_1685663
L13286_at
TC20000962.hg
g4503204_3p_at
Participates
as a member of
Other forms of this molecule
CYP24A1 C477Lfs*14 [mitochondrial inner membrane]
CYP24A1 E322K [mitochondrial inner membrane]
CYP24A1 E151* [mitochondrial inner membrane]
CYP24A1 R396W [mitochondrial inner membrane]
CYP24A1 E143del [mitochondrial inner membrane]
CYP24A1 [mitochondrial inner membrane]
Modified Residues
Name
L-arginine 159 replaced with L-glutamine
Coordinate
159
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name Identifier Synonyms
hypercalcemia DOID:12678 hypercalcemia (disorder), hypercalcinemia, hypercalcaemia, hyperCALCEMIA, hypercalcemia, hypercalcaemia
Cross References
RefSeq
ZINC - World Drugs
Guide to Pharmacology - Targets
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC target
PRO
ZINC - Investigational
IntEnz
HPA
GeneCards
Ensembl
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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