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 CYP17A1
Gene summary
Basic gene Info.Gene symbolCYP17A1
Gene namecytochrome P450, family 17, subfamily A, polypeptide 1
SynonymsCPT7|CYP17|P450C17|S17AH
CytomapUCSC genome browser: 10q24.3
Type of geneprotein-coding
RefGenesNM_000102.3,
Description17-alpha-hydroxyprogesterone aldolaseCYPXVIIcytochrome P450 17A1cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasiacytochrome P450-C17cytochrome P450c17cytochrome p450 XVIIA1steroid 17-alpha-hydroxylase/17,20 lyases
Modification date20141222
dbXrefs MIM : 609300
HGNC : HGNC
Ensembl : ENSG00000148795
HPRD : 01944
Vega : OTTHUMG00000018969
ProteinUniProt: P05093
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CYP17A1
BioGPS: 1586
PathwayNCI Pathway Interaction Database: CYP17A1
KEGG: CYP17A1
REACTOME: CYP17A1
Pathway Commons: CYP17A1
ContextiHOP: CYP17A1
ligand binding site mutation search in PubMed: CYP17A1
UCL Cancer Institute: CYP17A1
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:0008202steroid metabolic process22266943
GO:0042446hormone biosynthetic process22266943
GO:0042448progesterone metabolic process22266943


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Ligand binding site mutations for CYP17A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R125R125QCOAD1
W121H120YCOAD1
F114F114LKIRC1
I206D207ELUAD1
A367A367VLUAD1
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 CYP17A1
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
R125R125Q-0.54079614
F114F114L-0.53935097
A367A367V-0.33192137
I206D207E-0.29275385
W121H120Y-0.20101929
(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 CYP17A1 from PDB

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Differential gene expression and gene-gene network for CYP17A1
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 CYP17A1 and the right PPI network was created from samples without mutations in the LBS of CYP17A1. 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 CYP17A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268285Adrenal hyperplasia, congenital, type 524Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms11Biomarker, GeneticVariation
umls:C0001627Adrenal Hyperplasia, Congenital10Biomarker
umls:C327784917,20-Lyase Deficiency, Isolated8Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms7AlteredExpression, Biomarker, GeneticVariation
umls:C2239176Carcinoma, Hepatocellular3Biomarker
umls:C0021361Infertility, Female2Biomarker, GeneticVariation
umls:C0002453Amenorrhea2Biomarker
umls:C0020619Hypogonadism2Biomarker
umls:C0021364Infertility, Male2Biomarker, GeneticVariation
umls:C0020461Hyperkalemia1Biomarker
umls:C0020540Hypertension, Malignant1Biomarker
umls:C0020635Hypopituitarism1Biomarker
umls:C0023893Liver Cirrhosis, Experimental1Biomarker
umls:C0400966Non-alcoholic Fatty Liver Disease1Biomarker
umls:C0028949Oligomenorrhea1Biomarker
umls:C0029927Ovarian Cysts1Biomarker
umls:C0033953Sexual Dysfunctions, Psychological1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
16842R125QPathogenicGermlineMedGen:CN042980

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Pharmacological information for CYP17A1
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
NutraceuticalDB00157NADHSmall molecule
Approved|vet_approvedDB00396ProgesteroneSmall molecule
ApprovedDB05812AbirateroneSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CYP17A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
AERABIRATERONE3rukAF114
AERABIRATERONE3rukCF114
AERABIRATERONE3rukDF114
AERABIRATERONE4nkvAF114
AERABIRATERONE4nkvCF114
PLOPREGNENOLONE4nkwAF114
PLOPREGNENOLONE4nkwBF114
LZZ17-HYDROXYPREGNENOLONE(3ALPHA,8ALPHA)-3,17-DIHYDROXYPREGN-5-EN-20-ONE4nkzAF114
LZZ17-HYDROXYPREGNENOLONE(3ALPHA,8ALPHA)-3,17-DIHYDROXYPREGN-5-EN-20-ONE4nkzBF114
TOK(3ALPHA,8ALPHA)-17-(1H-BENZIMIDAZOL-1-YL)ANDROSTA-5,16-DIEN-3-OL3swzAF114 A367
TOK(3ALPHA,8ALPHA)-17-(1H-BENZIMIDAZOL-1-YL)ANDROSTA-5,16-DIEN-3-OL3swzCF114 A367
TOK(3ALPHA,8ALPHA)-17-(1H-BENZIMIDAZOL-1-YL)ANDROSTA-5,16-DIEN-3-OL3swzDF114 A367
AERABIRATERONE3rukBF114 I206
AERABIRATERONE4nkvBF114 I206
AERABIRATERONE4nkvDF114 I206
STRPROGESTERONE4nkxAF114 I206
STRPROGESTERONE4nkxBF114 I206
3QZ(9BETA)-17-HYDROXYPREGN-4-ENE-3,20-DIONE4nkyAF114 I206
TOK(3ALPHA,8ALPHA)-17-(1H-BENZIMIDAZOL-1-YL)ANDROSTA-5,16-DIEN-3-OL3swzBF114 I206 A367
STRPROGESTERONE4nkxDF114 I206 A367
3QZ(9BETA)-17-HYDROXYPREGN-4-ENE-3,20-DIONE4nkyBF114 I206 A367
3QZ(9BETA)-17-HYDROXYPREGN-4-ENE-3,20-DIONE4nkyCF114 I206 A367
3QZ(9BETA)-17-HYDROXYPREGN-4-ENE-3,20-DIONE4nkyDF114 I206 A367
LZZ17-HYDROXYPREGNENOLONE(3ALPHA,8ALPHA)-3,17-DIHYDROXYPREGN-5-EN-20-ONE4nkzDF114 I206 A367
PLOPREGNENOLONE4nkwDI206
PLOPREGNENOLONE4nkwCI206 A367
STRPROGESTERONE4nkxCI206 A367
HEMHEME B3rukAW121 R125
HEMHEME B3rukBW121 R125
HEMHEME B3swzAW121 R125
HEMHEME B3swzBW121 R125
HEMHEME B3swzCW121 R125
HEMHEME B3swzDW121 R125
HEMHEME B4nkwDW121 R125
HEMHEME B3rukCW121 R125 A367
HEMHEME B3rukDW121 R125 A367
HEMHEME B4nkvAW121 R125 A367
HEMHEME B4nkvBW121 R125 A367
HEMHEME B4nkvCW121 R125 A367
HEMHEME B4nkvDW121 R125 A367
HEMHEME B4nkwAW121 R125 A367
HEMHEME B4nkwBW121 R125 A367
HEMHEME B4nkwCW121 R125 A367
HEMHEME B4nkxAW121 R125 A367
HEMHEME B4nkxBW121 R125 A367
HEMHEME B4nkxCW121 R125 A367
HEMHEME B4nkxDW121 R125 A367
HEMHEME B4nkyAW121 R125 A367
HEMHEME B4nkyBW121 R125 A367
HEMHEME B4nkyCW121 R125 A367
HEMHEME B4nkyDW121 R125 A367
HEMHEME B4nkzAW121 R125 A367
HEMHEME B4nkzBW121 R125 A367
HEMHEME B4nkzCW121 R125 A367
HEMHEME B4nkzDW121 R125 A367


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Conservation information for LBS of CYP17A1
Multiple alignments for P05093 in multiple species
LBSAA sequence# speciesSpecies
A113NRKGIAFADSG2Homo sapiens, Pan troglodytes
A113QGKGVAFADSS1Mus musculus
A113QGKGVAFADAG1Rattus norvegicus
A113NQKGIAFADHG1Bos taurus
A113NRKGIAFADYG1Macaca mulatta
A302GDIFGAGVETT4Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta
A302GDIFGAGIETT2Mus musculus, Rattus norvegicus
A367RLRPVAPMLIP2Homo sapiens, Pan troglodytes
A367RIRPVAPMLIP2Rattus norvegicus, Macaca mulatta
A367RIRPVAPLLIP1Mus musculus
A367RIRPVAPTLIP1Bos taurus
A448IGEILARQELF3Homo sapiens, Pan troglodytes, Macaca mulatta
A448IGEALARQELF2Mus musculus, Rattus norvegicus
A448VGEMLARQELF1Bos taurus
C442AGPRSCIGEIL3Homo sapiens, Pan troglodytes, Macaca mulatta
C442AGPRSCIGEAL2Mus musculus, Rattus norvegicus
C442AGPRSCVGEML1Bos taurus
D298LTTIGDIFGAG3Homo sapiens, Pan troglodytes, Macaca mulatta
D298LVTVGDIFGAG1Mus musculus
D298LATVGDIFGAG1Rattus norvegicus
D298LATIGDIFGAG1Bos taurus
E305FGAGVETTTSV4Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta
E305FGAGIETTSSV1Mus musculus
E305FGAGIETTTTV1Rattus norvegicus
F114RKGIAFADSGA2Homo sapiens, Pan troglodytes
F114GKGVAFADSSS1Mus musculus
F114GKGVAFADAGS1Rattus norvegicus
F114QKGIAFADHGA1Bos taurus
F114RKGIAFADYGA1Macaca mulatta
F132LAMATFALFKD3Homo sapiens, Pan troglodytes, Macaca mulatta
F132LVFSTFSLFRD1Mus musculus
F132LVFSTFSLFKD1Rattus norvegicus
F132LALNAFALFKD1Bos taurus
F435VSYLPFGAGPR2Homo sapiens, Pan troglodytes
F435LSYLPFGAGPR2Bos taurus, Macaca mulatta
F435PSYLPFGAGPR1Mus musculus
F435QSYLPFGAGPR1Rattus norvegicus
G297ILTTIGDIFGA3Homo sapiens, Pan troglodytes, Macaca mulatta
G297ILVTVGDIFGA1Mus musculus
G297ILATVGDIFGA1Rattus norvegicus
G297MLATIGDIFGA1Bos taurus
G301IGDIFGAGVET4Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta
G301VGDIFGAGIET2Mus musculus, Rattus norvegicus
G303DIFGAGVETTT4Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta
G303DIFGAGIETTS1Mus musculus
G303DIFGAGIETTT1Rattus norvegicus
G436SYLPFGAGPRS6Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes, Macaca mulatta
G444PRSCIGEILAR3Homo sapiens, Pan troglodytes, Macaca mulatta
G444PRSCIGEALAR2Mus musculus, Rattus norvegicus
G444PRSCVGEMLAR1Bos taurus
H373PMLIPHKANVD4Homo sapiens, Rattus norvegicus, Pan troglodytes, Macaca mulatta
H373PLLIPHKANID1Mus musculus
H373PTLIPHKAVID1Bos taurus
I112NNRKGIAFADS2Homo sapiens, Pan troglodytes
I112DQGKGVAFADS1Mus musculus
I112DQGKGVAFADA1Rattus norvegicus
I112DNQKGIAFADH1Bos taurus
I112NNRKGIAFADY1Macaca mulatta
I205NYNEGIIDNLS2Homo sapiens, Pan troglodytes
I205TFTEGIVDVLG1Mus musculus
I205TFTEGIVDATG1Rattus norvegicus
I205NVNDGILEVLS1Bos taurus
I205NYNEGIIDSLG1Macaca mulatta
I206YNEGIIDNLSK2Homo sapiens, Pan troglodytes
I206FTEGIVDVLGH1Mus musculus
I206FTEGIVDATGD1Rattus norvegicus
I206VNDGILEVLSK1Bos taurus
I206YNEGIIDSLGK1Macaca mulatta
I299TTIGDIFGAGV3Homo sapiens, Pan troglodytes, Macaca mulatta
I299VTVGDIFGAGI1Mus musculus
I299ATVGDIFGAGI1Rattus norvegicus
I299ATIGDIFGAGV1Bos taurus
I371VAPMLIPHKAN4Homo sapiens, Rattus norvegicus, Pan troglodytes, Macaca mulatta
I371VAPLLIPHKAN1Mus musculus
I371VAPTLIPHKAV1Bos taurus
I443GPRSCIGEILA3Homo sapiens, Pan troglodytes, Macaca mulatta
I443GPRSCIGEALA2Mus musculus, Rattus norvegicus
I443GPRSCVGEMLA1Bos taurus
L209GIIDNLSKDSL2Homo sapiens, Pan troglodytes
L209GIVDVLGHSDL1Mus musculus
L209GIVDATGDRNL1Rattus norvegicus
L209GILEVLSKEVL1Bos taurus
L209GIIDSLGKESL1Macaca mulatta
L361TIREVLRIRPV4Mus musculus, Rattus norvegicus, Bos taurus, Macaca mulatta
L361TIREVLRLRPV2Homo sapiens, Pan troglodytes
L370PVAPMLIPHKA4Homo sapiens, Rattus norvegicus, Pan troglodytes, Macaca mulatta
L370PVAPLLIPHKA1Mus musculus
L370PVAPTLIPHKA1Bos taurus
L447CIGEILARQEL3Homo sapiens, Pan troglodytes, Macaca mulatta
L447CIGEALARQEL2Mus musculus, Rattus norvegicus
L447CVGEMLARQEL1Bos taurus
L452LARQELFLIMA3Homo sapiens, Pan troglodytes, Macaca mulatta
L452LARQELFIFMA1Mus musculus
L452LARQELFVFTA1Rattus norvegicus
L452LARQELFLFMS1Bos taurus
N202VIQNYNEGIID1Homo sapiens
N202TIQTFTEGIVD1Mus musculus
N202AIKTFTEGIVD1Rattus norvegicus
N202AIQNVNDGILE1Bos taurus
N202IIQNYNEGIID1Pan troglodytes
N202IVHNYNEGIID1Macaca mulatta
P434SVSYLPFGAGP2Homo sapiens, Pan troglodytes
P434SLSYLPFGAGP2Bos taurus, Macaca mulatta
P434TPSYLPFGAGP1Mus musculus
P434TQSYLPFGAGP1Rattus norvegicus
R125HWQLHRRLAMA3Homo sapiens, Pan troglodytes, Macaca mulatta
R125SWQLHRKLVFS1Mus musculus
R125SWHLHRKLVFS1Rattus norvegicus
R125HWQLHRKLALN1Bos taurus
R239SHVKIRNDLLN2Homo sapiens, Pan troglodytes
R239EHTKIREKTLV1Mus musculus
R239GYAKVRNEVLT1Rattus norvegicus
R239GCVQTRNELLN1Bos taurus
R239RHVKTRNDLLT1Macaca mulatta
R440FGAGPRSCIGE5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Macaca mulatta
R440FGAGPRSCVGE1Bos taurus
R96KDFSGRPQMAT2Homo sapiens, Pan troglodytes
R96KEFSGRPQMVT2Mus musculus, Rattus norvegicus
R96KEFSGRPKVAT1Bos taurus
R96KDFSGRPQVTT1Macaca mulatta
S441GAGPRSCIGEI3Homo sapiens, Pan troglodytes, Macaca mulatta
S441GAGPRSCIGEA2Mus musculus, Rattus norvegicus
S441GAGPRSCVGEM1Bos taurus
T306GAGVETTTSVV3Homo sapiens, Pan troglodytes, Macaca mulatta
T306GAGIETTSSVL1Mus musculus
T306GAGIETTTTVL1Rattus norvegicus
T306GAGVETTTSVI1Bos taurus
T307AGVETTTSVVK3Homo sapiens, Pan troglodytes, Macaca mulatta
T307AGIETTSSVLN1Mus musculus
T307AGIETTTTVLK1Rattus norvegicus
T307AGVETTTSVIK1Bos taurus
V310ETTTSVVKWTL2Homo sapiens, Pan troglodytes
V310ETTSSVLNWIL1Mus musculus
V310ETTTTVLKWIL1Rattus norvegicus
V310ETTTSVIKWIV1Bos taurus
V310ETTTSVVKWIV1Macaca mulatta
V366LRLRPVAPMLI2Homo sapiens, Pan troglodytes
V366LRIRPVAPMLI2Rattus norvegicus, Macaca mulatta
V366LRIRPVAPLLI1Mus musculus
V366LRIRPVAPTLI1Bos taurus
V482EGIPKVVFLID2Homo sapiens, Pan troglodytes
V482VGDPKVVFLID1Mus musculus
V482EGDPKVVFLID1Rattus norvegicus
V482EGHASLVLQIK1Bos taurus
V482EGNPKVVFLID1Macaca mulatta
V483GIPKVVFLIDS2Homo sapiens, Pan troglodytes
V483GDPKVVFLIDP2Mus musculus, Rattus norvegicus
V483GHASLVLQIKP1Bos taurus
V483GNPKVVFLIDS1Macaca mulatta
W121DSGAHWQLHRR2Homo sapiens, Pan troglodytes
W121DSSSSWQLHRK1Mus musculus
W121DAGSSWHLHRK1Rattus norvegicus
W121DHGAHWQLHRK1Bos taurus
W121DYGAHWQLHRR1Macaca mulatta
Y201NVIQNYNEGII1Homo sapiens
Y201TTIQTFTEGIV1Mus musculus
Y201TAIKTFTEGIV1Rattus norvegicus
Y201KAIQNVNDGIL1Bos taurus
Y201NIIQNYNEGII1Pan troglodytes
Y201KIVHNYNEGII1Macaca mulatta


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