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CYP11A1 D271_V272insGD [mitochondrial matrix]
Stable Identifier
R-HSA-5580258
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
Cytochrome P450 11A1
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) (Homo sapiens)
Defective CYP11A1 does not cleave 20a,22b-DHCHOL (Homo sapiens)
CYP11A1 mutants:FDXR:FDX1,FDX1L (red.) [mitochondrial matrix] (Homo sapiens)
CYP11A1 mutants [mitochondrial matrix] (Homo sapiens)
CYP11A1 D271_V272insGD [mitochondrial matrix] (Homo sapiens)
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:ENSG00000288362 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
RefSeq:NM_001099773.1 CYP11A1
RefSeq:NM_000781.2 CYP11A1
Other Identifiers
0003990400
11729652_a_at
11750526_a_at
1583
16811617
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:0003674
GO:0004497
GO:0005506
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005739
GO:0005743
GO:0005759
GO:0006629
GO:0006694
GO:0006700
GO:0006704
GO:0008150
GO:0008202
GO:0008203
GO:0008207
GO:0008386
GO:0009058
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0034650
GO:0042359
GO:0043167
GO:0043226
GO:0044281
GO:0046872
GO:0055114
GO:0071375
ILMN_1768820
M14565_at
PH_hs_0004396
TC15001642.hg
TC15002624.hg
g4503188_3p_at
Participant Of
hasMember
CYP11A1 mutants [mitochondrial matrix]
Other forms of this molecule
CYP11A1 I287Yfs*10 [mitochondrial matrix]
CYP11A1 V415E [mitochondrial matrix]
CYP11A1 [mitochondrial matrix]
Modified Residues
Name
Insertion of residues 270 to 271 at 272 from UniProt:P05108 CYP11A1
Coordinate
272
Name
L-tryptophan 272 replaced with glycine
Coordinate
272
PsiMod
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
Disease
Name
Identifier
Synonyms
congenital adrenal insufficiency
0050546
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, P450scc DEFICIENCY
Cross References
RefSeq
NP_001093243.1
,
NP_000772.2
OpenTargets
ENSG00000140459
IntEnz
1.14.15.6
HPA
ENSG00000140459-CYP11A1
GeneCards
P05108
ZINC target
P05108
Ensembl
ENSP00000499849
,
ENST00000672385
,
ENSG00000140459
,
ENSG00000288362
,
ENST00000268053
,
ENST00000358632
,
ENSP00000351455
,
ENSP00000500767
,
ENST00000672913
,
ENSP00000268053
PRO
P05108
Orphanet
15833
ZINC - Predictions - Purchasable
CP11A_HUMAN
HMDB Protein
HMDBP00724
PDB
3NA0
,
3N9Y
,
3N9Z
,
3NA1
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