CYP2R1 L99P [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5602112
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Cytochrome P450 2R1, CP2R1_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q6VVX0 CYP2R1
Gene Names
CYP2R1
Chain
signal peptide:1-26, chain:27-501
Reference Genes
BioGPS Gene:120227 CYP2R1
COSMIC (genes):CYP2R1 CYP2R1
CTD Gene:120227 CYP2R1
dbSNP Gene:120227 CYP2R1
ENSEMBL:ENSG00000186104 CYP2R1
ENSEMBL_homo_sapiens_GENE:ENSG00000186104.11 CYP2R1
HGNC:20580 CYP2R1
KEGG Gene (Homo sapiens):120227 CYP2R1
Monarch:120227 CYP2R1
NCBI Gene:120227 CYP2R1
OMIM:608713 CYP2R1
UCSC:Q6VVX0 CYP2R1
Reference Transcript
Other Identifiers
11722910_s_at
120227
227109_PM_at
227109_at
239181_PM_at
239181_at
3364074
3364096
3364097
3364098
3364099
3364100
3364103
3364104
3364105
3364106
3364107
3364112
58365_at
7946742
A_23_P202860
GE522426
GE750714
GO:0003824
GO:0004497
GO:0005506
GO:0005737
GO:0005783
GO:0005789
GO:0006082
GO:0006629
GO:0006766
GO:0006805
GO:0008289
GO:0008395
GO:0010038
GO:0010164
GO:0010212
GO:0016020
GO:0016491
GO:0016705
GO:0016712
GO:0020037
GO:0030343
GO:0036378
GO:0042359
GO:0042368
GO:0042803
GO:0043226
GO:0043231
GO:0046872
GO:1902271
HMNXSV003021303
Hs.16846.0.A1_3p_at
Hs.259372.0.A1_3p_at
ILMN_2119774
PH_hs_0032929
TC11001444.hg
Other forms of this molecule
CYP2R1 [endoplasmic reticulum membrane]
Modified Residues
Name
L-leucine 99 replaced with L-proline
Coordinate
99
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name Identifier Synonyms
rickets DOID:10609 vitamin D-dependent rickets, active rickets, Rickets, active
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Cite Us!