Details for: CYP11B1
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
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
PubMed ID: 2401360
Title: Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta.
PubMed ID: 2401360
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
PubMed ID: 3499608
Title: Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11).
PubMed ID: 3499608
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
PubMed ID: 1775135
Title: The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex.
PubMed ID: 1775135
PubMed ID: 1518866
Title: Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.
PubMed ID: 1518866
PubMed ID: 12530636
Title: Modulation of steroid hydroxylase activity in stably transfected V79MZh11B1 and V79MZh11B2 cells by PKC and PKD inhibitors.
PubMed ID: 12530636
PubMed ID: 18215163
Title: Purification and functional characterization of human 11beta hydroxylase expressed in Escherichia coli.
PubMed ID: 18215163
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
PubMed ID: 10599751
Title: The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population.
PubMed ID: 10599751
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
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
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
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
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.