CYP2R1 L99P

Stable Identifier
R-HSA-5602112
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Cytochrome P450 2R1, CP2R1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
CYP2R1
Chain
chain:1-501
Reference Transcript
Other Identifiers
11722910_s_at
120227
227109_at
239181_at
3364074
3364096
3364097
3364098
3364099
3364100
3364103
3364104
3364105
3364106
3364107
3364112
3C6G
3CZH
3DL9
42949
58365_at
7946742
A_23_P202860
AAI04908
AAI04910
AAQ23114
AAV65814
AY323817
AY800276
BC104907
BC104909
CCDS7818
CYP2R1
CYP2R1-201
E9PJT9
E9PS56
ENSG00000186104
ENSP00000334592
ENST00000334636
EntrezGene:120227
GE522426
GE750714
GO:0003674
GO:0004497
GO:0005506
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0006629
GO:0006766
GO:0008150
GO:0008395
GO:0009058
GO:0010038
GO:0010164
GO:0010212
GO:0016020
GO:0016491
GO:0016705
GO:0020037
GO:0030343
GO:0031090
GO:0036378
GO:0042359
GO:0043167
GO:0043226
GO:0043231
GO:0044281
GO:0046872
GO:0055114
HGNC:20580
HPA042949
Hs.16846.0.A1_3p_at
Hs.259372.0.A1_3p_at
ILMN_1762498
ILMN_2119774
IPR001128
IPR002401
IPR017972
IPR036396
MIM:600081
MIM:608713
NM_024514
NP_078790
PF00067
PH_hs_0032929
PR00385
PR00463
TC11001444.hg
uc001mlr.4
UPI000003F04B
XM_017017190
XP_016872679
XR_242777
Other forms of this molecule
Modified Residues
Name
L-leucine 99 replaced with L-proline
Coordinate
99
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to L-proline.
A protein modification that effectively removes or replaces an L-leucine.
Disease
Name Identifier Synonyms
rickets 10609 vitamin D-dependent rickets, active rickets, Rickets, active
Cross References
RefSeq
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein
PDB