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
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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:ENSG00000140459.18 CYP11A1
ENSEMBL: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
0003990400
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:0004497
GO:0005506
GO:0005515
GO:0005622
GO:0005737
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
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 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
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
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
OpenTargets
ZINC target
PRO
PDB
IntEnz
HPA
GeneCards
Ensembl
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
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