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)

(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: 10.55
    Marker Score: 187345
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.3
    Marker Score: 3230
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.03
    Marker Score: 12061
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.58
    Marker Score: 1452
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.57
    Marker Score: 1690
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.47
    Marker Score: 5766
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 864.5
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.33
    Marker Score: 440
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.13
    Marker Score: 7518
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 1.02
    Marker Score: 329
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.01
    Marker Score: 829
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71819
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48044
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.95
    Marker Score: 592
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5350
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2738
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 592
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1258
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 706
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.59
    Marker Score: 1037
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.55
    Marker Score: 364
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.55
    Marker Score: 5527
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 472
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.48
    Marker Score: 686
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.47
    Marker Score: 135
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 274.5
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.45
    Marker Score: 511
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.42
    Marker Score: 449
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.42
    Marker Score: 288
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.41
    Marker Score: 1753
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.39
    Marker Score: 141
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.37
    Marker Score: 266
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.37
    Marker Score: 127
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 368
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.36
    Marker Score: 207
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.35
    Marker Score: 192
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.33
    Marker Score: 185
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.28
    Marker Score: 763
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.28
    Marker Score: 5885
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.26
    Marker Score: 330
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.25
    Marker Score: 248
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.24
    Marker Score: 102
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.22
    Marker Score: 714
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.21
    Marker Score: 1361
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.21
    Marker Score: 244.5
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.2
    Marker Score: 176
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.2
    Marker Score: 153
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.2
    Marker Score: 1553
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.19
    Marker Score: 167
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.18
    Marker Score: 82
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.18
    Marker Score: 97
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.17
    Marker Score: 81
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.17
    Marker Score: 288
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.17
    Marker Score: 49
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.16
    Marker Score: 683
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.16
    Marker Score: 153
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.16
    Marker Score: 180
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.15
    Marker Score: 1335
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.15
    Marker Score: 254
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.15
    Marker Score: 634
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.15
    Marker Score: 39
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.15
    Marker Score: 236
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.14
    Marker Score: 151
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.14
    Marker Score: 82
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.14
    Marker Score: 171
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.14
    Marker Score: 188.5
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.14
    Marker Score: 31
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.14
    Marker Score: 150
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.13
    Marker Score: 60
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.13
    Marker Score: 275.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.13
    Marker Score: 1470
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.13
    Marker Score: 31
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.13
    Marker Score: 120
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.12
    Marker Score: 82
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.12
    Marker Score: 32
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.12
    Marker Score: 27
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.12
    Marker Score: 32
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.12
    Marker Score: 58
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.12
    Marker Score: 30
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.11
    Marker Score: 40
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.11
    Marker Score: 125
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.11
    Marker Score: 47
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.11
    Marker Score: 36
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.11
    Marker Score: 63
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.11
    Marker Score: 208
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.1
    Marker Score: 116
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.1
    Marker Score: 69
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.1
    Marker Score: 30
  • Cell Name: CD34-positive, CD56-positive, CD117-positive common innate lymphoid precursor, human (CL0001074)
    Fold Change: 0.1
    Marker Score: 28
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 0.1
    Marker Score: 32
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.1
    Marker Score: 32
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.1
    Marker Score: 186
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.1
    Marker Score: 163

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * It is a single-exon gene with a predicted protein of 513 amino acids. * It is highly expressed in the adrenal gland, Sertoli cells, Leydig cells, and choroid plexus epithelial cells. * It is also expressed in the placenta, sympathetic neurons, goblet cells, and trophoblast cells. **Pathways and functions:** * **Biological oxidations:** CYP11A1 is involved in the metabolism of various substrates, including steroids, cholesterol, and other molecules. * **C21-steroid hormone biosynthetic process:** It is involved in the synthesis of hormones that are derived from cholesterol, such as cortisol and aldosterone. * **Cholesterol monooxygenase (side-chain-cleaving) activity:** CYP11A1 is a key enzyme in the biosynthesis of bile acids, which are synthesized from cholesterol. * **Cytochrome p450 - arranged by substrate type:** CYP11A1 is one of the most abundant enzymes in the cytochrome P450 family, and it is involved in a wide range of metabolic reactions. **Clinical significance:** Defective CYP11A1 causes a genetic disorder called aicr (adrenal insufficiency with cushing's syndrome-related hypertension). This disorder is characterized by a lack of cortisol production, leading to hypoglycemia and other health problems.

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 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 9 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 UniProtKB 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. For the full schema, download it here.