Details for: CYP17A1

Gene ID: 1586

Symbol: CYP17A1

Ensembl ID: ENSG00000148795

Description: cytochrome P450 family 17 subfamily A member 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 13.79
    Marker Score: 244844
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 6.47
    Marker Score: 9101
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 3.98
    Marker Score: 1316
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.63
    Marker Score: 1757
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1173
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 873
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 858
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 1.27
    Marker Score: 455
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 489
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.17
    Marker Score: 2417
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4820
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1
    Marker Score: 505
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.05
    Marker Score: 6980
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.02
    Marker Score: 4266
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1
    Marker Score: 2034
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71832
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48057
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 511
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 464
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.95
    Marker Score: 724
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.95
    Marker Score: 2235
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5343
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 375
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.91
    Marker Score: 2965
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.86
    Marker Score: 708
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 601
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 464
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.72
    Marker Score: 477
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.7
    Marker Score: 1328
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.67
    Marker Score: 1256
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.57
    Marker Score: 454
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.56
    Marker Score: 193
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.49
    Marker Score: 2884
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.47
    Marker Score: 315
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.47
    Marker Score: 7370
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.45
    Marker Score: 190
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.45
    Marker Score: 253
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.44
    Marker Score: 1564
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.42
    Marker Score: 183
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.4
    Marker Score: 388
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.33
    Marker Score: 187
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.31
    Marker Score: 147
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.3
    Marker Score: 303
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.27
    Marker Score: 206
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 90
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.25
    Marker Score: 156
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.25
    Marker Score: 148
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 0.24
    Marker Score: 78
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.23
    Marker Score: 75
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.19
    Marker Score: 50
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.19
    Marker Score: 195
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.18
    Marker Score: 57
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.18
    Marker Score: 200
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.18
    Marker Score: 94
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.18
    Marker Score: 481
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.17
    Marker Score: 103
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.17
    Marker Score: 215
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.17
    Marker Score: 75
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.17
    Marker Score: 93
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.15
    Marker Score: 88
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.15
    Marker Score: 68.5
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.14
    Marker Score: 84
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.14
    Marker Score: 89
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.14
    Marker Score: 94
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.14
    Marker Score: 151
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.13
    Marker Score: 192
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.13
    Marker Score: 51
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.12
    Marker Score: 113
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.11
    Marker Score: 65
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.11
    Marker Score: 29
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.1
    Marker Score: 31.5
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.1
    Marker Score: 163
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.1
    Marker Score: 107
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.1
    Marker Score: 187
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.09
    Marker Score: 93
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.09
    Marker Score: 44
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.09
    Marker Score: 377
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.09
    Marker Score: 35
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.09
    Marker Score: 77
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.08
    Marker Score: 73
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.08
    Marker Score: 93
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.08
    Marker Score: 30
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.08
    Marker Score: 2784.5
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.08
    Marker Score: 236
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.08
    Marker Score: 76
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.08
    Marker Score: 511

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Other Information

**Key characteristics:** - CYP17A1 is a member of the CYP17A subfamily of cytochrome P450 enzymes. - It is a key enzyme in the biosynthesis of androgens, which are hormones produced in the testes. - CYP17A1 activity is also involved in the metabolism of other steroids, such as cortisol and progesterone. **Pathways and functions:** - CYP17A1 is involved in multiple pathways related to steroid metabolism, including the biosynthesis of androgens, the regulation of the menstrual cycle, and the metabolism of other steroids. - It is involved in the regulation of male fertility and sexual development. - In the testes, CYP17A1 is responsible for the production of androstenedione, which is an essential precursor for the development of male reproductive organs. - In the female reproductive tract, CYP17A1 is involved in the production of estrone, which is a key hormone that regulates the menstrual cycle. **Clinical significance:** - Mutations in the CYP17A1 gene have been linked to a number of human diseases, including acne, infertility, and prostate cancer. - CYP17A1 inhibitors are being investigated as potential treatments for these diseases. **Additional notes:** - CYP17A1 is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. - It is a multi-functional enzyme that can also perform other activities, such as the metabolism of other drugs and the detoxification of reactive oxygen species.

Genular Protein ID: 2131520065

Symbol: CP17A_HUMAN

Name: 17-alpha-hydroxyprogesterone aldolase

UniProtKB Accession Codes:

P05093 Q5TZV7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 76 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 16 DrugCentral 1 EC 5 EMBL 15 Ensembl 1 ExpressionAtlas 1 GO 16 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 22 PDBsum 17 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 40 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 3025870

Title: Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues.

PubMed ID: 3025870

DOI: 10.1073/pnas.84.2.407

PubMed ID: 3500022

Title: Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21.

PubMed ID: 3500022

DOI: 10.1089/dna.1987.6.439

PubMed ID: 3274893

Title: Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency.

PubMed ID: 3274893

DOI: 10.1210/mend-1-5-348

PubMed ID: 1964490

Title: Tissue-specific, cyclic adenosine 3',5'-monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells.

PubMed ID: 1964490

DOI: 10.1210/mend-4-12-1972

PubMed ID: 2843762

Title: Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.

PubMed ID: 2843762

DOI: 10.1210/mend-2-6-564

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9452426

Title: Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer.

PubMed ID: 9452426

DOI: 10.1074/jbc.273.6.3158

PubMed ID: 27339894

Title: Mechanism of 17alpha,20-Lyase and New Hydroxylation Reactions of Human Cytochrome P450 17A1: 18O LABELING AND OXYGEN SURROGATE EVIDENCE FOR A ROLE OF A PERFERRYL OXYGEN.

PubMed ID: 27339894

DOI: 10.1074/jbc.m116.732966

PubMed ID: 36640554

Title: Hydroxylation and lyase reactions of steroids catalyzed by mouse cytochrome P450 17A1 (Cyp17a1).

PubMed ID: 36640554

DOI: 10.1016/j.jinorgbio.2022.112085

PubMed ID: 10406467

Title: Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.

PubMed ID: 10406467

DOI: 10.1210/mend.13.7.0326

PubMed ID: 22266943

Title: Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001.

PubMed ID: 22266943

DOI: 10.1038/nature10743

PubMed ID: 25301938

Title: Structures of human steroidogenic cytochrome P450 17A1 with substrates.

PubMed ID: 25301938

DOI: 10.1074/jbc.m114.610998

PubMed ID: 2808364

Title: Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 2808364

DOI: 10.1016/s0021-9258(19)84680-x

PubMed ID: 1714904

Title: Missense mutation serine106-->proline causes 17 alpha-hydroxylase deficiency.

PubMed ID: 1714904

DOI: 10.1016/s0021-9258(18)98506-6

PubMed ID: 1515452

Title: Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)-->Cys, Gln(461)-->Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 1515452

DOI: 10.1016/0925-4439(92)90100-2

PubMed ID: 1740503

Title: Compound heterozygous mutations (Arg 239-->Stop, Pro 342-->Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 1740503

DOI: 10.1210/jcem.74.3.1740503

PubMed ID: 8396144

Title: Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 8396144

DOI: 10.1016/s0021-9258(19)36570-6

PubMed ID: 8245018

Title: Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.

PubMed ID: 8245018

DOI: 10.1016/s0021-9258(19)74462-7

PubMed ID: 8345056

Title: Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

PubMed ID: 8345056

DOI: 10.1210/jcem.77.2.8345056

PubMed ID: 8027220

Title: Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

PubMed ID: 8027220

DOI: 10.1210/jcem.79.1.8027220

PubMed ID: 8550762

Title: Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.

PubMed ID: 8550762

DOI: 10.1210/jcem.81.1.8550762

PubMed ID: 10720067

Title: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.

PubMed ID: 10720067

DOI: 10.1210/jcem.85.3.6475

PubMed ID: 11549685

Title: Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.

PubMed ID: 11549685

DOI: 10.1210/jcem.86.9.7812

PubMed ID: 11836339

Title: Combined 17alpha-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.

PubMed ID: 11836339

DOI: 10.1210/jcem.87.2.8271

PubMed ID: 12466376

Title: Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.

PubMed ID: 12466376

DOI: 10.1210/jc.2001-011880

PubMed ID: 14671162

Title: P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.

PubMed ID: 14671162

DOI: 10.1210/jc.2003-030988

PubMed ID: 19793597

Title: Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 19793597

DOI: 10.1016/j.metabol.2009.07.024

PubMed ID: 24498484

Title: Congenital adrenal hyperplasia due to 17-alpha-hydoxylase/17,20-lyase deficiency presenting with hypertension and pseudohermaphroditism: first case report from Oman.

PubMed ID: 24498484

DOI: 10.5001/omj.2014.12

PubMed ID: 24140098

Title: A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.

PubMed ID: 24140098

DOI: 10.1016/j.metabol.2013.08.015

PubMed ID: 25650406

Title: Partial deficiency of 17alpha-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.

PubMed ID: 25650406

DOI: 10.1530/eje-14-0834

Sequence Information:

  • Length: 508
  • Mass: 57371
  • Checksum: E5454E9E18F96B0E
  • Sequence:
    • MWELVALLLL TLAYLFWPKR RCPGAKYPKS LLSLPLVGSL PFLPRHGHMH NNFFKLQKKY 
GPIYSVRMGT KTTVIVGHHQ LAKEVLIKKG KDFSGRPQMA TLDIASNNRK GIAFADSGAH 
WQLHRRLAMA TFALFKDGDQ KLEKIICQEI STLCDMLATH NGQSIDISFP VFVAVTNVIS 
LICFNTSYKN GDPELNVIQN YNEGIIDNLS KDSLVDLVPW LKIFPNKTLE KLKSHVKIRN 
DLLNKILENY KEKFRSDSIT NMLDTLMQAK MNSDNGNAGP DQDSELLSDN HILTTIGDIF 
GAGVETTTSV VKWTLAFLLH NPQVKKKLYE EIDQNVGFSR TPTISDRNRL LLLEATIREV 
LRLRPVAPML IPHKANVDSS IGEFAVDKGT EVIINLWALH HNEKEWHQPD QFMPERFLNP 
AGTQLISPSV SYLPFGAGPR SCIGEILARQ ELFLIMAWLL QRFDLEVPDD GQLPSLEGIP 
KVVFLIDSFK VKIKVRQAWR EAQAEGST

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.