mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CYP11A1
Gene summary
Basic gene Info.Gene symbolCYP11A1
Gene namecytochrome P450, family 11, subfamily A, polypeptide 1
SynonymsCYP11A|CYPXIA1|P450SCC
CytomapUCSC genome browser: 15q23-q24
Type of geneprotein-coding
RefGenesNM_000781.2,
NM_001099773.1,
Descriptioncholesterol 20-22 desmolasecholesterol monooxygenase (side-chain cleaving)cholesterol side-chain cleavage enzyme, mitochondrialcytochrome P450 11A1cytochrome P450(scc)cytochrome P450, subfamily XIA (cholesterol side chain cleavage)cytochrome P450C11
Modification date20141207
dbXrefs MIM : 118485
HGNC : HGNC
Ensembl : ENSG00000140459
HPRD : 00326
Vega : OTTHUMG00000150716
ProteinUniProt: P05108
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CYP11A1
BioGPS: 1583
PathwayNCI Pathway Interaction Database: CYP11A1
KEGG: CYP11A1
REACTOME: CYP11A1
Pathway Commons: CYP11A1
ContextiHOP: CYP11A1
ligand binding site mutation search in PubMed: CYP11A1
UCL Cancer Institute: CYP11A1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006700C21-steroid hormone biosynthetic process11502818
GO:0008203cholesterol metabolic process21636783


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Ligand binding site mutations for CYP11A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
F450,N452R451QCOAD1
I390H388RCOAD1
E322V320IGBM1
F241F241SKIRC1
I390H388QOV1
I390H388PSKCM1
T331S332FSKCM1
A468A468TUCEC1
K382K382NUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for CYP11A1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
F241F241S-1.1314902
I390H388Q-1.0804178
I390H388P-0.87629183
I390H388R-0.83643482
N452R451Q-0.80219102
F450R451Q-0.80219102
K382K382N-0.69094693
T331S332F-0.45205869
E322V320I-0.15924194
A468A468T-0.12734064
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for CYP11A1 from PDB

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Differential gene expression and gene-gene network for CYP11A1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of CYP11A1 and the right PPI network was created from samples without mutations in the LBS of CYP11A1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for CYP11A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001623Adrenal Insufficiency7Biomarker, GeneticVariation
umls:C0014170Endometrial Neoplasms5AlteredExpression, Biomarker, GeneticVariation
umls:C3151055ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE4Biomarker, GeneticVariation
umls:C275182446, XY Disorders of Sex Development2Biomarker
umls:C0342474Lipoid congenital adrenal hyperplasia1Biomarker
umls:C0036572Seizures1Therapeutic

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for CYP11A1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00357AminoglutethimideSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CYP11A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
2DC(3ALPHA,8ALPHA,22R)-CHOLEST-5-ENE-3,20,22-TRIOL3na0AF241 E322
2DC(3ALPHA,8ALPHA,22R)-CHOLEST-5-ENE-3,20,22-TRIOL3na0BF241 E322
HEMHEME B3na0AI390 A468
HEMHEME B3na0BI390 A468
IIIPeptide ligand (THR,ASP,GLU,GLU,ASN,ASP,MET,LEU,ASP,LEU,ALA)3na0AK382 F450
IIIPeptide ligand (THR,ASP,GLU,GLU,ASN,ASP,MET,LEU,ASP,LEU,ALA)3na0BK382 F450


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Conservation information for LBS of CYP11A1
Multiple alignments for P05108 in multiple species
LBSAA sequence# speciesSpecies
A160NQEVMAPEATK1Homo sapiens
A160NTEVMAPEAIK1Bos taurus
A160NQEVMAPGAIK1Mus musculus
A160NQEVMAPDSIK1Rattus norvegicus
A325ITEMLAGGVDT2Mus musculus, Rattus norvegicus
A325VTEMLAGGVDT1Homo sapiens
A325ITEMLAGGVNT1Bos taurus
A468LGRRIAELEMT3Homo sapiens, Mus musculus, Rattus norvegicus
A468VGRRIAELEMT1Bos taurus
C462WGVRQCLGRRI3Homo sapiens, Mus musculus, Rattus norvegicus
C462WGVRQCVGRRI1Bos taurus
E322QANITEMLAGG2Mus musculus, Rattus norvegicus
E322KANVTEMLAGG1Homo sapiens
E322KANITEMLAGG1Bos taurus
F121PNPERFLIPPW1Homo sapiens
F121SYPERYDIPPW1Bos taurus
F121PNPERFLVPPW1Mus musculus
F121PNPERYLVPPW1Rattus norvegicus
F241AVYQMFHTSVP2Mus musculus, Rattus norvegicus
F241AIYQMFHTSVP1Homo sapiens
F241AVYKMFHTSVP1Bos taurus
F450QNTTHFRYLGF2Mus musculus, Rattus norvegicus
F450KNITYFRNLGF1Homo sapiens
F450KDLIHFRNLGF1Bos taurus
F455FRNLGFGWGVR2Homo sapiens, Bos taurus
F455FRYLGFGWGVR2Mus musculus, Rattus norvegicus
F497DVGTTFNLILM1Homo sapiens
F497DVDTIFNLILT1Bos taurus
F497DVGTKFSLILM1Mus musculus
F497DVGTKFNLILM1Rattus norvegicus
G326TEMLAGGVDTT3Homo sapiens, Mus musculus, Rattus norvegicus
G326TEMLAGGVNTT1Bos taurus
G327EMLAGGVDTTS3Homo sapiens, Mus musculus, Rattus norvegicus
G327EMLAGGVNTTS1Bos taurus
G454HFRYLGFGWGV2Mus musculus, Rattus norvegicus
G454YFRNLGFGWGV1Homo sapiens
G454HFRNLGFGWGV1Bos taurus
G456RNLGFGWGVRQ2Homo sapiens, Bos taurus
G456RYLGFGWGVRQ2Mus musculus, Rattus norvegicus
G458LGFGWGVRQCL3Homo sapiens, Mus musculus, Rattus norvegicus
G458LGFGWGVRQCV1Bos taurus
G464VRQCLGRRIAE3Homo sapiens, Mus musculus, Rattus norvegicus
G464VRQCVGRRIAE1Bos taurus
I123PERFLIPPWVA1Homo sapiens
I123PERYDIPPWLA1Bos taurus
I123PERFLVPPWVA1Mus musculus
I123PERYLVPPWVA1Rattus norvegicus
I390LRLHPISVTLQ4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I500TTFNLILMPEK1Homo sapiens
I500TIFNLILTPDK1Bos taurus
I500TKFSLILMPEN1Mus musculus
I500TKFNLILMPEK1Rattus norvegicus
K112VALLFKSEGPN1Homo sapiens
K112VAHLFKFEGSY1Bos taurus
K112ASILFSCEGPN1Mus musculus
K112AATLFSCEGPN1Rattus norvegicus
K148KSAAWKKDRVA1Homo sapiens
K148KSGTWKKDRVV1Bos taurus
K148SSDAWKKDRIV1Mus musculus
K148SSDAWRKDRIV1Rattus norvegicus
K378LVPLLKASIKE3Homo sapiens, Mus musculus, Rattus norvegicus
K378MVPLLKASIKE1Bos taurus
K382LKASIKETLRL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
K445WLEKSQNTTHF2Mus musculus, Rattus norvegicus
K445WLSKDKNITYF1Homo sapiens
K445WLSKDKDLIHF1Bos taurus
L140RPIGVLFKSSD2Mus musculus, Rattus norvegicus
L140RPIGVLLKKSA1Homo sapiens
L140KPIGVLFKKSG1Bos taurus
L371DMAKMVQLVPL2Mus musculus, Rattus norvegicus
L371DMATMLQLVPL1Homo sapiens
L371DISKMLQMVPL1Bos taurus
L385SIKETLRLHPI4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L394PISVTLQRYLV1Homo sapiens
L394PISVTLQRYPE1Bos taurus
L394PISVTLQRYTV1Mus musculus
L394PISVTLQRYIV1Rattus norvegicus
L453THFRYLGFGWG2Mus musculus, Rattus norvegicus
L453TYFRNLGFGWG1Homo sapiens
L453IHFRNLGFGWG1Bos taurus
L499GTTFNLILMPE1Homo sapiens
L499DTIFNLILTPD1Bos taurus
L499GTKFSLILMPE1Mus musculus
L499GTKFNLILMPE1Rattus norvegicus
M159LNQEVMAPEAT1Homo sapiens
M159LNTEVMAPEAI1Bos taurus
M159LNQEVMAPGAI1Mus musculus
M159LNQEVMAPDSI1Rattus norvegicus
M240DAIYQMFHTSV1Homo sapiens
M240DAVYKMFHTSV1Bos taurus
M240NAVYQMFHTSV1Mus musculus
M240DAVYQMFHTSV1Rattus norvegicus
M323ANITEMLAGGV3Bos taurus, Mus musculus, Rattus norvegicus
M323ANVTEMLAGGV1Homo sapiens
M472IAELEMTIFLI2Homo sapiens, Rattus norvegicus
M472IAELEMTLFLI1Bos taurus
M472IAELEMTILLI1Mus musculus
N155DRIVLNQEVMA2Mus musculus, Rattus norvegicus
N155DRVALNQEVMA1Homo sapiens
N155DRVVLNTEVMA1Bos taurus
N452TTHFRYLGFGW2Mus musculus, Rattus norvegicus
N452ITYFRNLGFGW1Homo sapiens
N452LIHFRNLGFGW1Bos taurus
P161QEVMAPEATKN1Homo sapiens
P161TEVMAPEAIKN1Bos taurus
P161QEVMAPGAIKN1Mus musculus
P161QEVMAPDSIKN1Rattus norvegicus
Q156RIVLNQEVMAP2Mus musculus, Rattus norvegicus
Q156RVALNQEVMAP1Homo sapiens
Q156RVVLNTEVMAP1Bos taurus
Q372MAKMVQLVPLL2Mus musculus, Rattus norvegicus
Q372MATMLQLVPLL1Homo sapiens
Q372ISKMLQMVPLL1Bos taurus
Q395ISVTLQRYLVN1Homo sapiens
Q395ISVTLQRYPES1Bos taurus
Q395ISVTLQRYTVN1Mus musculus
Q395ISVTLQRYIVN1Rattus norvegicus
Q461GWGVRQCLGRR3Homo sapiens, Mus musculus, Rattus norvegicus
Q461GWGVRQCVGRR1Bos taurus
R120GPNPERFLIPP1Homo sapiens
R120GSYPERYDIPP1Bos taurus
R120GPNPERFLVPP1Mus musculus
R120GPNPERYLVPP1Rattus norvegicus
R151AWKKDRVALNQ1Homo sapiens
R151TWKKDRVVLNT1Bos taurus
R151AWKKDRIVLNQ1Mus musculus
R151AWRKDRIVLNQ1Rattus norvegicus
R396SVTLQRYLVND1Homo sapiens
R396SVTLQRYPESD1Bos taurus
R396SVTLQRYTVND1Mus musculus
R396SVTLQRYIVND1Rattus norvegicus
R460FGWGVRQCLGR3Homo sapiens, Mus musculus, Rattus norvegicus
R460FGWGVRQCVGR1Bos taurus
R465RQCLGRRIAEL3Homo sapiens, Mus musculus, Rattus norvegicus
R465RQCVGRRIAEL1Bos taurus
R466QCLGRRIAELE3Homo sapiens, Mus musculus, Rattus norvegicus
R466QCVGRRIAELE1Bos taurus
S391RLHPISVTLQR4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
T330AGGVDTTSMTL3Homo sapiens, Mus musculus, Rattus norvegicus
T330AGGVNTTSMTL1Bos taurus
T331GGVDTTSMTLQ3Homo sapiens, Mus musculus, Rattus norvegicus
T331GGVNTTSMTLQ1Bos taurus
T334DTTSMTLQWNL2Mus musculus, Rattus norvegicus
T334DTTSMTLQWHL1Homo sapiens
T334NTTSMTLQWHL1Bos taurus
T393HPISVTLQRYL1Homo sapiens
T393HPISVTLQRYP1Bos taurus
T393HPISVTLQRYT1Mus musculus
T393HPISVTLQRYI1Rattus norvegicus
V139QRPIGVLFKSS2Mus musculus, Rattus norvegicus
V139QRPIGVLLKKS1Homo sapiens
V139QKPIGVLFKKS1Bos taurus
V152WKKDRVALNQE1Homo sapiens
V152WKKDRVVLNTE1Bos taurus
V152WKKDRIVLNQE1Mus musculus
V152WRKDRIVLNQE1Rattus norvegicus
V392LHPISVTLQRY4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
V459GFGWGVRQCLG3Homo sapiens, Mus musculus, Rattus norvegicus
V459GFGWGVRQCVG1Bos taurus
W147KKSAAWKKDRV1Homo sapiens
W147KKSGTWKKDRV1Bos taurus
W147KSSDAWKKDRI1Mus musculus
W147KSSDAWRKDRI1Rattus norvegicus
W457NLGFGWGVRQC2Homo sapiens, Bos taurus
W457YLGFGWGVRQC2Mus musculus, Rattus norvegicus


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