CYP11A1 I279Yfs*10 [mitochondrial matrix]

Stable Identifier
R-HSA-5580251
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
Cytochrome P450 11A1
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
15507506 Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

Werner, R, Achermann, JC, Riepe, FG, Struve, D, Hiort, O, Hoppe, U, Partsch, CJ, Marschke, C, Holterhus, PM

J. Clin. Endocrinol. Metab. 2005
External Reference Information
External Reference
UniProt:P05108 CYP11A1
Gene Names
CYP11A1, CYP11A
Chain
transit peptide:1-39, chain:40-521
Reference Genes
BioGPS Gene:1583 CYP11A1
COSMIC (genes):CYP11A1 CYP11A1
CTD Gene:1583 CYP11A1
dbSNP Gene:1583 CYP11A1
ENSEMBL:ENSG00000140459 CYP11A1
ENSEMBL_homo_sapiens_GENE:ENSG00000140459.18 CYP11A1
ENSEMBL_homo_sapiens_GENE:ENSG00000288362.1 CYP11A1
HGNC:2590 CYP11A1
KEGG Gene (Homo sapiens):1583 CYP11A1
Monarch:1583 CYP11A1
NCBI Gene:1583 CYP11A1
OMIM:118485 CYP11A1
UCSC:P05108 CYP11A1
Reference Transcript
Other Identifiers
11729652_a_at
11750526_a_at
1583
16811617
204309_PM_at
204309_at
3632863
3632864
3632867
3632870
3632872
3632873
3632874
3632875
3632876
3632877
3632878
3632879
3632887
3632888
3632889
3632893
3632894
37195_at
7990333
A_23_P129169
GE57831
GO:0003824
GO:0004497
GO:0005506
GO:0005515
GO:0005739
GO:0005743
GO:0005759
GO:0006629
GO:0006694
GO:0006700
GO:0006704
GO:0006766
GO:0008202
GO:0008203
GO:0008207
GO:0008386
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0034650
GO:0042359
GO:0043226
GO:0046872
GO:0071375
GO:1901615
HMNXSV003007473
ILMN_1768820
M14565_at
PH_hs_0004396
TC15001642.hg
TC15002624.hg
g4503188_3p_at
Participates
as a member of
Other forms of this molecule
CYP11A1 [mitochondrial matrix]
CYP11A1 D271_V272insGD [mitochondrial matrix]
CYP11A1 V415E [mitochondrial matrix]
Modified Residues
Name
Replacement of residues 279 to 287 by YTPRTSTGN
Disease
Name Identifier Synonyms
congenital adrenal insufficiency DOID:0050546 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, P450scc DEFICIENCY
Cross References
RefSeq
Guide to Pharmacology - Targets
ClinGen
OpenTargets
ZINC target
PRO
PDB
IntEnz
GeneCards
HPA
Ensembl
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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