Details for: CYP11B1

Gene ID: 1584

Symbol: CYP11B1

Ensembl ID: ENSG00000160882

Description: cytochrome P450 family 11 subfamily B 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: 7.52
    Marker Score: 133536
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7692
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.14
    Marker Score: 1598
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5350
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.9
    Marker Score: 1314.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.88
    Marker Score: 1431
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.85
    Marker Score: 533
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.77
    Marker Score: 671
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.65
    Marker Score: 518
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.6
    Marker Score: 198
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.5
    Marker Score: 5034.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.4
    Marker Score: 130
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.38
    Marker Score: 609
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.36
    Marker Score: 211
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.33
    Marker Score: 1072
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.32
    Marker Score: 264
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.3
    Marker Score: 75
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.29
    Marker Score: 1225.5
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.29
    Marker Score: 162
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.27
    Marker Score: 202
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.26
    Marker Score: 499
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.26
    Marker Score: 525
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.25
    Marker Score: 140
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.25
    Marker Score: 118.5
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.24
    Marker Score: 88
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.24
    Marker Score: 70
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.24
    Marker Score: 277
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.23
    Marker Score: 79
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.23
    Marker Score: 946
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.22
    Marker Score: 70
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: dermis microvascular lymphatic vessel endothelial cell (CL2000041)
    Fold Change: 0.22
    Marker Score: 71
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.22
    Marker Score: 66
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.21
    Marker Score: 68
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.21
    Marker Score: 185.5
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.2
    Marker Score: 73
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.19
    Marker Score: 70
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.18
    Marker Score: 69
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.18
    Marker Score: 121
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.18
    Marker Score: 284
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.18
    Marker Score: 74
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.17
    Marker Score: 89
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.17
    Marker Score: 67
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.17
    Marker Score: 74
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.17
    Marker Score: 103
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.16
    Marker Score: 74
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.16
    Marker Score: 2435.5
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.15
    Marker Score: 59
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.14
    Marker Score: 74
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 0.14
    Marker Score: 44
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.13
    Marker Score: 135
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.13
    Marker Score: 61
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.13
    Marker Score: 70
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.13
    Marker Score: 75
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.13
    Marker Score: 73
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.12
    Marker Score: 60
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.12
    Marker Score: 74
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.12
    Marker Score: 71
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.11
    Marker Score: 674
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.11
    Marker Score: 124
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.11
    Marker Score: 229
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.11
    Marker Score: 46.5
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.1
    Marker Score: 110
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.1
    Marker Score: 63
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.1
    Marker Score: 74
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.1
    Marker Score: 55
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.09
    Marker Score: 80
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.09
    Marker Score: 63
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.09
    Marker Score: 63
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.09
    Marker Score: 68
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.08
    Marker Score: 88
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.08
    Marker Score: 40
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.08
    Marker Score: 75
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.08
    Marker Score: 75
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.08
    Marker Score: 73
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.07
    Marker Score: 945
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.07
    Marker Score: 73
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.07
    Marker Score: 266
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.06
    Marker Score: 42.5
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.06
    Marker Score: 67
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.06
    Marker Score: 67
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.05
    Marker Score: 55
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.05
    Marker Score: 70
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.05
    Marker Score: 74
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.05
    Marker Score: 73
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.05
    Marker Score: 89
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.05
    Marker Score: 64
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.05
    Marker Score: 72
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.05
    Marker Score: 74
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.05
    Marker Score: 64
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.05
    Marker Score: 88
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.05
    Marker Score: 78
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.04
    Marker Score: 39
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.04
    Marker Score: 74
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.04
    Marker Score: 115

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Other Information

**Key characteristics:** - CYP11B1 is a large protein with a molecular weight of approximately 550 kDa. - It is a member of the cytochrome P450 superfamily, which are involved in the metabolism of a wide range of chemical compounds. - CYP11B1 is responsible for the 18-monoxygenation of various hormones and steroids, including cortisol, and plays a significant role in the regulation of the endocrine system. **Pathways and functions:** - CYP11B1 participates in multiple pathways involved in the metabolism of hormones and steroids, including: - Biological oxidations - C21-steroid hormone biosynthetic process - Corticosterone 18-monooxygenase activity - Cytochrome p450 - arranged by substrate type - It is involved in the biosynthesis of sex hormones, such as estrogen and testosterone, and plays a role in the regulation of the menstrual cycle. - It also participates in the metabolism of environmental pollutants and xenobiochemicals. **Clinical significance:** - Mutations in CYP11B1 gene have been linked to several diseases of metabolism, including: - Hypertension - Diabetes - Obesity - Cardiovascular disease - CYP11B1 inhibitors are being investigated as potential therapeutic agents for these diseases. **Additional information:** - CYP11B1 is a highly conserved protein that is present in humans, rodents, and other animals. - It is regulated by various hormones, including cortisol, which can modulate its activity. - CYP11B1 is a drug metabolizing enzyme, meaning that it breaks down drugs and other chemicals in the body.

Genular Protein ID: 269886049

Symbol: C11B1_HUMAN

Name: Cytochrome P450 11B1, mitochondrial

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2592361

Title: Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta).

PubMed ID: 2592361

DOI: 10.1016/s0021-9258(19)30030-4

PubMed ID: 2401360

Title: Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta.

PubMed ID: 2401360

DOI: 10.1016/0014-5793(90)81190-y

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 7903314

Title: A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.

PubMed ID: 7903314

DOI: 10.1210/jcem.77.6.7903314

PubMed ID: 3499608

Title: Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11).

PubMed ID: 3499608

DOI: 10.1073/pnas.84.20.7193

PubMed ID: 1741400

Title: Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans.

PubMed ID: 1741400

DOI: 10.1073/pnas.89.4.1458

PubMed ID: 1775135

Title: The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex.

PubMed ID: 1775135

DOI: 10.1210/mend-5-10-1513

PubMed ID: 1518866

Title: Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.

PubMed ID: 1518866

DOI: 10.1073/pnas.89.17.8327

PubMed ID: 12530636

Title: Modulation of steroid hydroxylase activity in stably transfected V79MZh11B1 and V79MZh11B2 cells by PKC and PKD inhibitors.

PubMed ID: 12530636

DOI: 10.1081/erc-120016808

PubMed ID: 18215163

Title: Purification and functional characterization of human 11beta hydroxylase expressed in Escherichia coli.

PubMed ID: 18215163

DOI: 10.1111/j.1742-4658.2008.06253.x

PubMed ID: 20200334

Title: Adrenocortical zonation in humans under normal and pathological conditions.

PubMed ID: 20200334

DOI: 10.1210/jc.2009-2010

PubMed ID: 23322723

Title: Structural insights into aldosterone synthase substrate specificity and targeted inhibition.

PubMed ID: 23322723

DOI: 10.1210/me.2012-1287

PubMed ID: 2022736

Title: A mutation in CYP11B1 (Arg-448-->His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.

PubMed ID: 2022736

DOI: 10.1172/jci115182

PubMed ID: 9302260

Title: CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

PubMed ID: 9302260

DOI: 10.1093/hmg/6.11.1829

PubMed ID: 10599751

Title: The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population.

PubMed ID: 10599751

DOI: 10.1210/jcem.84.12.6272-6

PubMed ID: 10391209

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

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 10391210

Title: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.

PubMed ID: 10391210

DOI: 10.1038/10297

PubMed ID: 16046588

Title: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

PubMed ID: 16046588

DOI: 10.1210/jc.2005-0379

PubMed ID: 20331679

Title: Only two mutations detected in 15 Tunisian patients with 11beta-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

PubMed ID: 20331679

DOI: 10.1111/j.1399-0004.2010.01403.x

PubMed ID: 20089618

Title: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

PubMed ID: 20089618

DOI: 10.1210/jc.2009-0651

PubMed ID: 20947076

Title: Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11beta-hydroxylase deficiency in a Chinese patient.

PubMed ID: 20947076

DOI: 10.1016/j.fertnstert.2010.09.035

PubMed ID: 23940125

Title: A diagnosis not to be missed: nonclassic steroid 11beta-hydroxylase deficiency presenting with premature adrenarche and hirsutism.

PubMed ID: 23940125

DOI: 10.1210/jc.2013-1306

PubMed ID: 24536089

Title: Characterisation of three novel CYP11B1 mutations in classic and non-classic 11beta-hydroxylase deficiency.

PubMed ID: 24536089

DOI: 10.1530/eje-13-0737

PubMed ID: 24022297

Title: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

PubMed ID: 24022297

DOI: 10.1038/ejhg.2013.197

PubMed ID: 24987415

Title: Two novel CYP11B1 gene mutations in patients from two Croatian families with 11 beta-hydroxylase deficiency.

PubMed ID: 24987415

DOI: 10.1155/2014/185974

PubMed ID: 26053152

Title: Characterization of the molecular genetic pathology in patients with 11beta-hydroxylase deficiency.

PubMed ID: 26053152

DOI: 10.1111/cen.12834

PubMed ID: 26476331

Title: Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

PubMed ID: 26476331

DOI: 10.1016/j.jsbmb.2015.10.011

Sequence Information:

  • Length: 503
  • Mass: 57573
  • Checksum: 0B36D82513960EE9
  • Sequence:
  • MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG 
    YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR 
    QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA 
    RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM 
    PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS 
    PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT 
    ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG TLVRVFLYSL GRNPALFPRP 
    ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH LQVETLTQED 
    IKMVYSFILR PSMFPLLTFR AIN

Genular Protein ID: 4190777884

Symbol: Q8TDD0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 503
  • Mass: 57605
  • Checksum: 6866CC7A58994AB6
  • Sequence:
  • MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG 
    YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR 
    QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA 
    RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM 
    PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS 
    PDAIKANSME LTAGSMDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT 
    ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG TLVRVFLYSL GRNPALFPRP 
    ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH LQVETLTQED 
    IKMVYSFILR PSMFPLLTFR AIN

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.