CYP11A1 D271_V272insGD

Stable Identifier
R-HSA-5580258
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
Cytochrome P450 11A1
Locations in the PathwayBrowser
Expand all
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 CYP11A1
HGNC:2590 CYP11A1
KEGG Gene (Homo sapiens):hsa:1583 CYP11A1
Monarch:1583 CYP11A1
NCBI Gene:1583 CYP11A1
OMIM:118485 CYP11A1
UCSC:P05108 CYP11A1
Reference Transcript
Other Identifiers
0003990400
00140+1.14.15.6
11729652_a_at
11750526_a_at
1583
16436
16811617
204309_at
3632863
3632864
3632867
3632870
3632872
3632873
3632874
3632875
3632876
3632877
3632878
3632879
3632887
3632888
3632889
3632893
3632894
37195_at
3N9Y
3N9Z
3NA0
3NA1
7990333
A0A0S2Z3R3
A_23_P129169
AAA36404
AAA52162
AAH32329
AC090826
AK056794
AK292300
ALQ33469
BAF84989
BAG51810
BC032329
C9JPU9
C9JXV4
CAA28965
CAA32471
CCDS32291
CCDS45303
CH471136
CYP11A1
CYP11A1-201
CYP11A1-202
E7EPP8
EAW99341
EAW99342
ENSG00000140459
ENSP00000268053
ENSP00000351455
ENST00000268053
ENST00000358632
EntrezGene:1583
g4503188_3p_at
GE57831
GO:0003674
GO:0004497
GO:0005506
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005739
GO:0005743
GO:0005759
GO:0006629
GO:0006694
GO:0006700
GO:0008150
GO:0008202
GO:0008203
GO:0008207
GO:0008386
GO:0009058
GO:0016020
GO:0016125
GO:0016491
GO:0016705
GO:0020037
GO:0042359
GO:0043167
GO:0043226
GO:0044281
GO:0046872
GO:0055114
H3BS93
H3BSZ1
HGNC:2590
HPA016436
ILMN_1768820
IPR001128
IPR002401
IPR017972
IPR033283
IPR036396
KU178011
M14565
M14565_at
M28253
MIM:118485
MIM:613743
NM_000781
NM_001099773
NP_000772
NP_001093243
PF00067
PH_hs_0004396
PR00385
PR00463
TC15001642.hg
TC15002624.hg
uc002axs.3
uc002axt.3
UPI00000725F7
UPI0000EE71C0
X05367
X05368
X05369
X05370
X05371
X05372
X05373
X05374
X14257
Participant Of
hasMember
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 HEY
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
GeneCards
ZINC target
PRO
BRENDA (Homo sapiens)
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
PDB