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CYP24A1 R396W [mitochondrial inner membrane]
Stable Identifier
R-HSA-5602003
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial inner membrane
Synonyms
Cytochrome P450 24A1, CP24_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP24A1 causes HCAI (Homo sapiens)
Defective CYP24A1 does not 24-hydroxylate CALTOL (Homo sapiens)
CYP24A1 mutants [mitochondrial inner membrane] (Homo sapiens)
CYP24A1 R396W [mitochondrial inner membrane] (Homo sapiens)
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 CYP24A1
ENSEMBL_homo_sapiens_GENE: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
RefSeq:XM_017027691.1 CYP24A1
RefSeq:XM_017027693.1 CYP24A1
RefSeq:XM_017027692.1 CYP24A1
RefSeq:NM_000782.4 CYP24A1
RefSeq:XM_005260304.4 CYP24A1
RefSeq:NM_001128915.1 CYP24A1
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:0003824
GO:0004497
GO:0005506
GO:0005739
GO:0005743
GO:0006629
GO:0006766
GO:0008403
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
CYP24A1 mutants [mitochondrial inner membrane] (Homo sapiens)
Other forms of this molecule
CYP24A1 C477Lfs*14 [mitochondrial inner membrane]
CYP24A1 E322K [mitochondrial inner membrane]
CYP24A1 E151* [mitochondrial inner membrane]
CYP24A1 R159Q [mitochondrial inner membrane]
CYP24A1 E143del [mitochondrial inner membrane]
CYP24A1 [mitochondrial inner membrane]
Modified Residues
Name
L-arginine 396 replaced with L-tryptophan
Coordinate
396
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
hypercalcemia
DOID:12678
hypercalcemia (disorder), hypercalcinemia, hypercalcaemia, hyperCALCEMIA, hypercalcemia, hypercalcaemia
Cross References
RefSeq
NP_000773.2
,
XP_016883182.1
,
XP_005260361.1
,
NP_001122387.1
,
XP_016883181.1
,
XP_016883180.1
ZINC - World Drugs
CP24A_HUMAN
Guide to Pharmacology - Targets
1365
OpenTargets
ENSG00000019186
ZINC - FDA approved
CP24A_HUMAN
ZINC - Substances
CP24A_HUMAN
ZINC target
Q07973
PRO
Q07973
ZINC - Investigational
CP24A_HUMAN
IntEnz
1.14.15.16
HPA
ENSG00000019186-CYP24A1
GeneCards
Q07973
Ensembl
ENSG00000019186
,
ENST00000395954
,
ENSP00000379284
,
ENST00000395955
,
ENSP00000216862
,
ENSP00000379285
,
ENST00000216862
Pharos - Targets
Q07973
ZINC - Predictions - Purchasable
CP24A_HUMAN
Orphanet
20406
HMDB Protein
HMDBP01801
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