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CYP19A1 R375C [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5601971
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Aromatase
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP19A1 causes AEXS (Homo sapiens)
Defective CYP19A1 does not convert ANDST to E1 (Homo sapiens)
CYP19A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
CYP19A1 R375C [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P11511 CYP19A1
Gene Names
CYP19A1, ARO1, CYAR, CYP19
Chain
chain:1-503
Reference Genes
BioGPS Gene:1588 CYP19A1
COSMIC (genes):CYP19A1 CYP19A1
CTD Gene:1588 CYP19A1
dbSNP Gene:1588 CYP19A1
ENSEMBL:ENSG00000137869 CYP19A1
HGNC:2594 CYP19A1
Monarch:1588 CYP19A1
NCBI Gene:1588 CYP19A1
OMIM:107910 CYP19A1
UCSC:P11511 CYP19A1
Reference Transcript
RefSeq:NM_000103.3 CYP19A1
RefSeq:NM_001347256.1 CYP19A1
RefSeq:NM_001347250.1 CYP19A1
RefSeq:NM_001347254.1 CYP19A1
RefSeq:NM_001347252.1 CYP19A1
RefSeq:NM_001347251.1 CYP19A1
RefSeq:NM_001347249.1 CYP19A1
RefSeq:NM_001347253.1 CYP19A1
RefSeq:NM_031226.2 CYP19A1
RefSeq:NM_001347248.1 CYP19A1
RefSeq:NM_001347255.1 CYP19A1
Other Identifiers
11715729_s_at
11715730_at
11715731_at
11760374_at
1554296_PM_at
1554296_at
1560295_PM_at
1588
1618_at
1619_g_at
203475_PM_at
203475_at
239459_PM_s_at
239459_s_at
239460_PM_at
239460_at
240863_PM_at
240863_at
3624013
3624014
3624015
3624016
3624017
3624018
3624019
3624020
3624021
3624022
3624024
3624025
3624026
3624027
3624028
3624029
3624030
3624031
3624032
3624033
3624034
3624036
3624037
3624038
3624042
3624043
3624044
3624045
3624056
3624057
3624072
3624073
3624074
3624076
3624077
3624107
3624108
3624109
3624110
3624111
3624112
3624114
3624117
3624126
3624129
3624130
38039_at
42790_at
44388_at
64527_at
7988767
90118_at
986_at
987_g_at
ADDON000278.hg
ADDON001904.hg
A_21_P0014794
A_23_P37410
A_24_P920646
A_32_P86289
A_33_P3351371
D21241_xpt1_s_at
GE548953
GE57866
GO:0002677
GO:0003824
GO:0004497
GO:0005506
GO:0005783
GO:0005789
GO:0006629
GO:0006694
GO:0006703
GO:0006710
GO:0006949
GO:0008209
GO:0008395
GO:0008585
GO:0009055
GO:0010760
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0016712
GO:0019825
GO:0020037
GO:0022414
GO:0030540
GO:0030879
GO:0032355
GO:0043226
GO:0046872
GO:0048856
GO:0060065
GO:0060736
GO:0061370
GO:0070330
GO:2000866
HMNXSV003010380
HMNXSV003034642
HMNXSV003036304
Hs.106135.0.A1_3p_at
Hs.187471.1.A1_3p_at
Hs2.79946.2.S1_3p_s_at
ILMN_1699139
ILMN_1725234
ILMN_1897864
ILMN_2387860
PH_hs_0013616
PH_hs_0022889
TC15001362.hg
TC15001370.hg
X13589_at
g4503196_3p_at
p25002
Participates
as a member of
CYP19A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
CYP19A1 [endoplasmic reticulum membrane]
CYP19A1 C437Y [endoplasmic reticulum membrane]
CYP19A1 E210K [endoplasmic reticulum membrane]
CYP19A1 R365Q [endoplasmic reticulum membrane]
Modified Residues
Name
L-arginine 375 replaced with L-cysteine
Coordinate
375
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
pseudohermaphroditism
DOID:3765
Indeterminate sex and pseudohermaphroditism, Indeterminate sex and pseudohermaphroditism (disorder), Pseudohermaphroditism (disorder), pseudohermaphroditism, Indeterminate sex or pseudohermaphroditism NOS (disorder)
Cross References
ZINC - World Drugs
CP19A_HUMAN
Guide to Pharmacology - Targets
1362
OpenTargets
ENSG00000137869
ENSEMBL
ENSP00000453149
,
ENST00000559878
,
ENSP00000383930
,
ENST00000396404
,
ENST00000396402
,
ENSP00000379683
,
ENSP00000379685
,
ENSP00000452627
,
ENST00000557858
,
ENST00000405913
ZINC - FDA approved
CP19A_HUMAN
ZINC - Substances
CP19A_HUMAN
ZINC - Biogenic
CP19A_HUMAN
ZINC target
P11511
PRO
P11511
PDB
4KQ8
,
4GL7
,
5JL6
,
4GL5
,
3EQM
,
5JL9
,
3S7S
,
3S79
,
5JKV
,
5JKW
,
5JL7
ZINC - Investigational
CP19A_HUMAN
ZINC - Metabolites
CP19A_HUMAN
HPA
ENSG00000137869-CYP19A1
Pharos - Targets
P11511
Orphanet
CYP19A1
ZINC - Predictions - Purchasable
CP19A_HUMAN
HMDB Protein
HMDBP01561
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