Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
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
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) (Homo sapiens)
Defective CYP24A1 does not 24-hydroxylate CALTOL (Homo sapiens)
CYP24A1 mutants [mitochondrial inner membrane] (Homo sapiens)
CYP24A1 R159Q [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
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:NM_000782.4 CYP24A1
RefSeq:XM_017027691.1 CYP24A1
RefSeq:XM_017027692.1 CYP24A1
RefSeq:NM_001128915.1 CYP24A1
RefSeq:XM_017027693.1 CYP24A1
RefSeq:XM_005260304.4 CYP24A1
Other Identifiers
11732877_a_at
11737968_a_at
11752903_a_at
1591
16920497
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:0003674
GO:0004497
GO:0005506
GO:0005575
GO:0005622
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:0010430
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:0062180
GO:0062181
GO:0070561
GO:0070576
GO:0070643
ILMN_1685663
L13286_at
TC20000962.hg
g4503204_3p_at
Participant Of
hasMember
CYP24A1 mutants [mitochondrial inner membrane]
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 [mitochondrial inner membrane]
CYP24A1 E143del [mitochondrial inner 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
XP_016883182.1
,
NP_001122387.1
,
XP_016883180.1
,
XP_005260361.1
,
XP_016883181.1
,
NP_000773.2
ZINC - World Drugs
CP24A_HUMAN
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
ENST00000216862
,
ENSG00000019186
,
ENSP00000379284
,
ENSP00000379285
,
ENST00000395955
,
ENST00000395954
,
ENSP00000216862
Orphanet
20406
ZINC - Predictions - Purchasable
CP24A_HUMAN
HMDB Protein
HMDBP01801
© 2021
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text