Human Gene CYP17A1 (ENST00000638190.1)
  Description: cytochrome P450 family 17 subfamily A member 1 (from HGNC CYP17A1)
RefSeq Summary (NM_000102): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000638190.1
Gencode Gene: ENSG00000148795.7
Transcript (Including UTRs)
   Position: hg38 chr10:102,830,531-102,837,472 Size: 6,942 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr10:102,830,702-102,837,361 Size: 6,660 Coding Exon Count: 6 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr10:102,830,531-102,837,472)mRNA (may differ from genome)Protein (407 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS

-  MalaCards Disease Associations
  MalaCards Gene Search: CYP17A1
Diseases sorted by gene-association score: 17-alpha-hydroxylase/17,20-lyase deficiency* (1581), 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia* (100), congenital adrenal hyperplasia (24), polycystic ovary syndrome (22), pseudohermaphroditism (19), antley-bixler syndrome (18), adrenal carcinoma (15), leydig cell tumor (14), hyperandrogenism (14), cytochrome p450 oxidoreductase deficiency (13), adrenal adenoma (12), transsexualism (11), penis agenesis (10), adrenal cortical adenoma (10), hyperaldosteronism (9), addison's disease (9), adrenal cortical carcinoma (9), steroid inherited metabolic disorder (8), conn's syndrome (8), breast cancer (7), hypospadias (7), brca2 hereditary breast and ovarian cancer syndrome (7), autoimmune polyendocrine syndrome type 1 (6), brca1 hereditary breast and ovarian cancer syndrome (6), testicular leydig cell tumor (6), male reproductive organ cancer (6), sex differentiation disease (6), prostate cancer (6), mycetoma (6), adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete (4), prostate cancer susceptibility (1), reproductive organ cancer (1), female reproductive system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3724.01 RPKM in Adrenal Gland
Total median expression: 3767.98 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.30111-0.264 Picture PostScript Text
3' UTR -25.67171-0.150 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Descriptions from all associated GenBank mRNAs
  BC063388 - Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1, mRNA (cDNA clone MGC:74864 IMAGE:5170736), complete cds.
AK289898 - Homo sapiens cDNA FLJ78498 complete cds, highly similar to Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.
AK308466 - Homo sapiens cDNA, FLJ98507.
BC062997 - Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1, mRNA (cDNA clone MGC:70666 IMAGE:5171626), complete cds.
M14564 - Human cytochrome P450c17 (steroid 17-alpha-hydroxylase/17,20 lyase) mRNA, complete cds.
BC032843 - Homo sapiens cDNA clone IMAGE:5265604, containing frame-shift errors.
JD251875 - Sequence 232899 from Patent EP1572962.
AK312235 - Homo sapiens cDNA, FLJ92527, highly similar to Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.
BT020000 - Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 mRNA, complete cds.
KJ891020 - Synthetic construct Homo sapiens clone ccsbBroadEn_00414 CYP17A1 gene, encodes complete protein.
KJ905722 - Synthetic construct Homo sapiens clone ccsbBroadEn_15392 CYP17A1 gene, encodes complete protein.
CU687686 - Synthetic construct Homo sapiens gateway clone IMAGE:100021732 5' read CYP17A1 mRNA.
AK094106 - Homo sapiens cDNA FLJ36787 fis, clone ADRGL2003585, highly similar to CYTOCHROME P450 17 (EC
JD258531 - Sequence 239555 from Patent EP1572962.
JD164484 - Sequence 145508 from Patent EP1572962.
JD338405 - Sequence 319429 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00140 - Steroid hormone biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-7305 - superpathway of steroid hormone biosynthesis
PWY66-378 - androgen biosynthesis
PWY66-381 - glucocorticoid biosynthesis

-  Other Names for This Gene
  Alternate Gene Symbols: A0A1W2PRY0, AK289898, uc285iii.1
UCSC ID: ENST00000638190.1
RefSeq Accession: NM_000102

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.