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 CYP24A1
ENSEMBL_homo_sapiens_GENE:ENSG00000019186 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
00100+1.14.15.16
11732877_a_at
11737968_a_at
11752903_a_at
1591
16920497
206504_at
22261
3910430
3910431
3910433
3910434
3910435
3910436
3910438
3910439
3910440
3910443
3910444
3910445
3910447
3910450
3910451
3910454
3910455
63771
660_at
71346_at
8067140
A_23_P28815
A_24_P356930
A_33_P3369401
AAA62379
AAB03776
AAB29308
AAI09084
AAI09085
AAW50795
AL138805
AY858838
BC109083
BC109084
CCDS33491
CCDS46616
CYP24A1
CYP24A1-201
CYP24A1-202
CYP24A1-203
ENSG00000019186
ENSP00000216862
ENSP00000379284
ENSP00000379285
ENST00000216862
ENST00000395954
ENST00000395955
EntrezGene:1591
g4503204_3p_at
GE57625
GO:0001649
GO:0003674
GO:0004497
GO:0005506
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0005741
GO:0005886
GO:0006629
GO:0006766
GO:0007165
GO:0008150
GO:0008403
GO:0009056
GO:0016491
GO:0016705
GO:0020037
GO:0030154
GO:0030342
GO:0033280
GO:0042359
GO:0042369
GO:0043167
GO:0043226
GO:0044281
GO:0046872
GO:0055114
GO:0070561
HGNC:2602
HPA022261
HPA063771
ILMN_1685663
IPR001128
IPR002401
IPR002949
IPR017972
IPR036396
L13286
L13286_at
MIM:126065
MIM:143880
NM_000782
NM_001128915
NP_000773
NP_001122387
PF00067
PR00385
PR00463
PR01238
S67623
TC20000962.hg
U60669
uc002xwu.2
uc002xwv.3
uc002xww.3
UPI00001281B8
UPI000022B531
UPI00004BAD50
XM_005260304
XM_017027691
XM_017027692
XM_017027693
XP_005260361
XP_016883180
XP_016883181
XP_016883182
Participant Of
hasMember
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 outer membrane]
Modified Residues
Name
L-arginine 159 replaced with L-glutamine
Coordinate
159
PsiMod
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
hypercalcemia 12678 hypercalcemia (disorder), hypercalcinemia, hypercalcaemia, hyperCALCEMIA, hypercalcemia, hypercalcaemia
Cross References
RefSeq
ZINC - World Drugs
OpenTargets
ZINC - FDA approved
GeneCards
ZINC - Substances
ZINC target
PRO
BRENDA (Homo sapiens)
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein