Gene Page: CYP17A1

Summary ?
GeneID1586
SymbolCYP17A1
SynonymsCPT7|CYP17|P450C17|S17AH
Descriptioncytochrome P450 family 17 subfamily A member 1
ReferenceMIM:609300|HGNC:HGNC:2593|Ensembl:ENSG00000148795|HPRD:01944|Vega:OTTHUMG00000018969
Gene typeprotein-coding
Map location10q24.3
Pascal p-value1E-12
Fetal beta-0.208

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWAScatGenome-wide Association StudiesThis data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:PGC128Genome-wide Association StudyA multi-stage schizophrenia GWAS of up to 36,989 cases and 113,075 controls. Reported by the Schizophrenia Working Group of PGC. 128 independent associations spanning 108 loci
CV:PGCnpGenome-wide Association StudyGWAS
LK:YESGenome-wide Association StudyThis data set included 99 genes mapped to the 22 regions. The 24 leading SNPs were also included in CV:Ripke_2013
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 

Section I. Genetics and epigenetics annotation

@CV:PGC128

SNP IDChromosomePositionAllelePFunctionGeneUp/Down Distance
rs11191419chr10104612335AT9.235E-18intergenicCYP17A1,BORCS7dist=15045;dist=1632


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005506iron ion bindingIEA-
GO:0004497monooxygenase activityIEA-
GO:0004508steroid 17-alpha-monooxygenase activityEXP10406467 
GO:0004508steroid 17-alpha-monooxygenase activityTAS1347802 
GO:0019825oxygen bindingTAS2808364 
GO:0020037heme bindingIEA-
GO:0009055electron carrier activityIEA-
GO:0046872metal ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007548sex differentiationTAS9326943 
GO:0006704glucocorticoid biosynthetic processIEA-
GO:0006700C21-steroid hormone biosynthetic processIEA-
GO:0055114oxidation reductionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0043025cell somaIEAaxon, dendrite (GO term level: 4)-
GO:0030424axonIEAneuron, axon, Neurotransmitter (GO term level: 6)-
GO:0005789endoplasmic reticulum membraneEXP10406467 
GO:0005739mitochondrionIEA-
GO:0005783endoplasmic reticulumNAS9326943 
GO:0016020membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG STEROID HORMONE BIOSYNTHESIS 5530All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF STEROID HORMONES AND VITAMINS A AND D 3523All SZGR 2.0 genes in this pathway
REACTOME ANDROGEN BIOSYNTHESIS 108All SZGR 2.0 genes in this pathway
REACTOME BIOLOGICAL OXIDATIONS 13991All SZGR 2.0 genes in this pathway
REACTOME CYTOCHROME P450 ARRANGED BY SUBSTRATE TYPE 5134All SZGR 2.0 genes in this pathway
REACTOME PHASE1 FUNCTIONALIZATION OF COMPOUNDS 7050All SZGR 2.0 genes in this pathway
REACTOME ENDOGENOUS STEROLS 1510All SZGR 2.0 genes in this pathway
REACTOME STEROID HORMONES 2921All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF LIPIDS AND LIPOPROTEINS 478302All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
SHETH LIVER CANCER VS TXNIP LOSS PAM3 7037All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS DN 357212All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
DURCHDEWALD SKIN CARCINOGENESIS UP 8847All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2 TARGETS 425261All SZGR 2.0 genes in this pathway
MATZUK MALE REPRODUCTION SERTOLI 2823All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 LCP WITH H3K27ME3 2911All SZGR 2.0 genes in this pathway
BILANGES SERUM SENSITIVE GENES 9054All SZGR 2.0 genes in this pathway
BILANGES SERUM RESPONSE TRANSLATION 3720All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway