Details for: CYP11A1

Gene ID: 1583

Symbol: CYP11A1

Ensembl ID: ENSG00000140459

Description: cytochrome P450 family 11 subfamily A member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 19.2527
    Cell Significance Index: 515.8800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 10.6964
    Cell Significance Index: -5.0500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 9.7717
    Cell Significance Index: 260.9200
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 6.2239
    Cell Significance Index: 31.0500
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 5.4977
    Cell Significance Index: 34.1600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 2.6884
    Cell Significance Index: 65.1200
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.5731
    Cell Significance Index: 22.0700
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.5285
    Cell Significance Index: 8.9800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6724
    Cell Significance Index: 18.7900
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.5206
    Cell Significance Index: 6.1300
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.4504
    Cell Significance Index: 2.9900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2780
    Cell Significance Index: 7.3100
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.2346
    Cell Significance Index: 3.4200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.2263
    Cell Significance Index: 3.5900
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.1824
    Cell Significance Index: 2.0100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1316
    Cell Significance Index: 3.5200
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.1211
    Cell Significance Index: 1.1500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1097
    Cell Significance Index: 1.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1042
    Cell Significance Index: 14.3100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0898
    Cell Significance Index: 1.1500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0644
    Cell Significance Index: 7.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0566
    Cell Significance Index: 11.2300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0527
    Cell Significance Index: 15.1700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0498
    Cell Significance Index: 0.6800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0382
    Cell Significance Index: 5.5600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0175
    Cell Significance Index: 0.8800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0142
    Cell Significance Index: 1.8200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0118
    Cell Significance Index: 0.6600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0081
    Cell Significance Index: 5.5900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0078
    Cell Significance Index: 14.7200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0068
    Cell Significance Index: 12.4800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0066
    Cell Significance Index: 0.0900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0063
    Cell Significance Index: 9.6400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0061
    Cell Significance Index: 0.0500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0000
    Cell Significance Index: 0.0200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0006
    Cell Significance Index: -0.3900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0019
    Cell Significance Index: -0.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0044
    Cell Significance Index: -0.8800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0055
    Cell Significance Index: -0.5600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0058
    Cell Significance Index: -4.2500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0058
    Cell Significance Index: -4.2600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0059
    Cell Significance Index: -4.4600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0064
    Cell Significance Index: -3.4800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0071
    Cell Significance Index: -3.2400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0071
    Cell Significance Index: -4.0200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0087
    Cell Significance Index: -0.1100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0088
    Cell Significance Index: -3.1700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0105
    Cell Significance Index: -0.8100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0122
    Cell Significance Index: -0.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0125
    Cell Significance Index: -2.1300
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: -0.0146
    Cell Significance Index: -0.1600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0158
    Cell Significance Index: -0.3300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0192
    Cell Significance Index: -0.8400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0232
    Cell Significance Index: -0.1400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0240
    Cell Significance Index: -3.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0244
    Cell Significance Index: -2.8000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0269
    Cell Significance Index: -0.5300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0320
    Cell Significance Index: -3.9400
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.0331
    Cell Significance Index: -0.2500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0364
    Cell Significance Index: -3.7900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0373
    Cell Significance Index: -0.9300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0383
    Cell Significance Index: -1.9900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0416
    Cell Significance Index: -0.7200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0541
    Cell Significance Index: -2.8400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0554
    Cell Significance Index: -3.4900
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0556
    Cell Significance Index: -0.7200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0582
    Cell Significance Index: -4.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0620
    Cell Significance Index: -4.6200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0627
    Cell Significance Index: -2.3000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0687
    Cell Significance Index: -3.2300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0751
    Cell Significance Index: -3.5000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0754
    Cell Significance Index: -2.6200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0812
    Cell Significance Index: -1.3700
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.0812
    Cell Significance Index: -0.9600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0828
    Cell Significance Index: -4.3200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0893
    Cell Significance Index: -1.5100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0927
    Cell Significance Index: -4.1000
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: -0.0937
    Cell Significance Index: -0.6800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0962
    Cell Significance Index: -3.3700
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.0965
    Cell Significance Index: -0.8200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0980
    Cell Significance Index: -1.6400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0986
    Cell Significance Index: -3.1400
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.0998
    Cell Significance Index: -1.1200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1017
    Cell Significance Index: -3.3300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1026
    Cell Significance Index: -1.4900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1040
    Cell Significance Index: -2.9800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1043
    Cell Significance Index: -2.6800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1053
    Cell Significance Index: -1.6000
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1055
    Cell Significance Index: -1.6100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1092
    Cell Significance Index: -4.1400
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.1143
    Cell Significance Index: -2.2400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1154
    Cell Significance Index: -3.1400
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.1217
    Cell Significance Index: -1.8200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1249
    Cell Significance Index: -3.6800
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.1298
    Cell Significance Index: -1.8200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1375
    Cell Significance Index: -2.0300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1403
    Cell Significance Index: -3.5000
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.1414
    Cell Significance Index: -1.5200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1418
    Cell Significance Index: -2.8900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1425
    Cell Significance Index: -3.5600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CYP11A1 is a cytochrome P450 enzyme that exhibits specificity for the conversion of cholesterol into pregnenolone. This enzyme is encoded by the CYP11A1 gene and is highly expressed in various tissues, including the adrenal gland, placenta, and testes. CYP11A1 is a heme-containing enzyme that requires NADPH as a cofactor to catalyze the conversion of cholesterol into pregnenolone. The enzyme is also capable of binding to steroids, including cortisol and aldosterone, and exhibits a high degree of specificity for the conversion of cholesterol into pregnenolone. **Pathways and Functions:** CYP11A1 is involved in the biosynthesis of various steroid hormones, including cortisol, aldosterone, and sex steroids. The enzyme catalyzes the conversion of cholesterol into pregnenolone, which is then converted into progesterone, androgens, and estrogens through a series of enzymatic reactions. CYP11A1 is also involved in the metabolism of cholesterol, as well as the degradation of steroid hormones. The enzyme plays a critical role in maintaining the balance of steroid hormones in the body and has been implicated in various metabolic disorders, including Congenital Adrenal Hyperplasia (CAH) and Adrenal Insufficiency. **Clinical Significance:** CYP11A1 is essential for maintaining the balance of steroid hormones in the body. Mutations in the CYP11A1 gene have been implicated in various metabolic disorders, including CAH and Adrenal Insufficiency. CAH is a group of inherited disorders that affect the production of steroid hormones, including cortisol and aldosterone. The enzyme plays a critical role in the biosynthesis of cortisol, which is essential for regulating blood pressure, electrolyte balance, and glucose metabolism. Mutations in the CYP11A1 gene can lead to impaired cortisol production, resulting in symptoms such as hypotension, hyponatremia, and hypokalemia. In addition to its role in steroid hormone biosynthesis, CYP11A1 has been implicated in the development of various metabolic disorders, including obesity, insulin resistance, and type 2 diabetes. The enzyme plays a critical role in regulating lipid metabolism, and alterations in its activity have been linked to impaired glucose metabolism. Furthermore, CYP11A1 has been shown to play a role in the development of cardiovascular disease, including hypertension and atherosclerosis. In conclusion, CYP11A1 is a critical enzyme in the biosynthesis of steroid hormones, including cortisol, aldosterone, and sex steroids. Mutations in the CYP11A1 gene have been implicated in various metabolic disorders, including Congenital Adrenal Hyperplasia and Adrenal Insufficiency. The enzyme plays a critical role in regulating lipid metabolism and has been linked to the development of various metabolic disorders, including obesity, insulin resistance, and type 2 diabetes. Further research is needed to fully elucidate the functions and clinical significance of CYP11A1, but it is clear that this enzyme plays a critical role in maintaining the balance of steroid hormones in the body.

Genular Protein ID: 2097774570

Symbol: CP11A_HUMAN

Name: CYPXIA1

UniProtKB Accession Codes:

P05108 A8K8D5 B3KPU8 G3XAD7 Q15081 Q16805 Q8N1A7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 33 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 12 DrugCentral 1 EC 1 EMBL 17 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 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 4 PDBsum 4 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 2 RNAct 1 Reactome 3 RefSeq 2 Rhea 16 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 3024157

Title: Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta.

PubMed ID: 3024157

DOI: 10.1073/pnas.83.23.8962

PubMed ID: 3038854

Title: Gene structure of human cytochrome P-450(SCC), cholesterol desmolase.

PubMed ID: 3038854

DOI: 10.1093/oxfordjournals.jbchem.a121955

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

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: 1849407

Title: Regulated expression of cytochrome P-450scc (cholesterol-side-chain cleavage enzyme) in cultured cell lines detected by antibody against bacterially expressed human protein.

PubMed ID: 1849407

DOI: 10.1042/bj2740813

PubMed ID: 2419119

Title: Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes.

PubMed ID: 2419119

DOI: 10.1210/endo-118-4-1296

PubMed ID: 21636783

Title: Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system.

PubMed ID: 21636783

DOI: 10.1073/pnas.1019441108

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 11502818

Title: Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.

PubMed ID: 11502818

DOI: 10.1210/jcem.86.8.7748

PubMed ID: 12161514

Title: Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.

PubMed ID: 12161514

DOI: 10.1210/jcem.87.8.8763

PubMed ID: 16705068

Title: Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.

PubMed ID: 16705068

DOI: 10.1210/jc.2005-2230

PubMed ID: 18182448

Title: Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

PubMed ID: 18182448

DOI: 10.1210/jc.2007-2330

PubMed ID: 19116240

Title: A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.

PubMed ID: 19116240

DOI: 10.1210/jc.2008-1118

Sequence Information:

  • Length: 521
  • Mass: 60102
  • Checksum: AB0501E7A5665D8B
  • Sequence:
    • MLAKGLPPRS VLVKGCQTFL SAPREGLGRL RVPTGEGAGI STRSPRPFNE IPSPGDNGWL 
NLYHFWRETG THKVHLHHVQ NFQKYGPIYR EKLGNVESVY VIDPEDVALL FKSEGPNPER 
FLIPPWVAYH QYYQRPIGVL LKKSAAWKKD RVALNQEVMA PEATKNFLPL LDAVSRDFVS 
VLHRRIKKAG SGNYSGDISD DLFRFAFESI TNVIFGERQG MLEEVVNPEA QRFIDAIYQM 
FHTSVPMLNL PPDLFRLFRT KTWKDHVAAW DVIFSKADIY TQNFYWELRQ KGSVHHDYRG 
ILYRLLGDSK MSFEDIKANV TEMLAGGVDT TSMTLQWHLY EMARNLKVQD MLRAEVLAAR 
HQAQGDMATM LQLVPLLKAS IKETLRLHPI SVTLQRYLVN DLVLRDYMIP AKTLVQVAIY 
ALGREPTFFF DPENFDPTRW LSKDKNITYF RNLGFGWGVR QCLGRRIAEL EMTIFLINML 
ENFRVEIQHL SDVGTTFNLI LMPEKPISFT FWPFNQEATQ Q

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.