Details for: CYP27B1

Gene ID: 1594

Symbol: CYP27B1

Ensembl ID: ENSG00000111012

Description: cytochrome P450 family 27 subfamily B 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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 19.2227
    Cell Significance Index: -2.9900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 11.5911
    Cell Significance Index: -2.9400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 5.7353
    Cell Significance Index: -2.3300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 2.4413
    Cell Significance Index: -3.0100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 2.2378
    Cell Significance Index: 55.9400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.5576
    Cell Significance Index: 95.5000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6215
    Cell Significance Index: 39.1700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5334
    Cell Significance Index: 101.5000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3086
    Cell Significance Index: 8.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3005
    Cell Significance Index: 29.7300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2772
    Cell Significance Index: 250.3400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2766
    Cell Significance Index: 5.8900
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.2561
    Cell Significance Index: 3.6700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.2266
    Cell Significance Index: 3.2900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1910
    Cell Significance Index: 20.7700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1774
    Cell Significance Index: 10.6500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1678
    Cell Significance Index: 27.2900
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.1519
    Cell Significance Index: 1.7500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1038
    Cell Significance Index: 7.1800
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.1024
    Cell Significance Index: 0.6300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0974
    Cell Significance Index: 5.0600
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.0844
    Cell Significance Index: 0.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0833
    Cell Significance Index: 6.2100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0823
    Cell Significance Index: 2.2400
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0599
    Cell Significance Index: 0.8400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0598
    Cell Significance Index: 2.7100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0510
    Cell Significance Index: 2.4000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0462
    Cell Significance Index: 1.3300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0432
    Cell Significance Index: 5.5800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0338
    Cell Significance Index: 0.9400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0293
    Cell Significance Index: 0.4000
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.0230
    Cell Significance Index: 0.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0207
    Cell Significance Index: 9.1300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0171
    Cell Significance Index: 0.3700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0168
    Cell Significance Index: 0.2000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0161
    Cell Significance Index: 0.7500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0130
    Cell Significance Index: 1.5100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0100
    Cell Significance Index: 1.2800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0083
    Cell Significance Index: 0.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0073
    Cell Significance Index: 1.2500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0061
    Cell Significance Index: 1.2100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0031
    Cell Significance Index: 1.7100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0024
    Cell Significance Index: 0.1700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0012
    Cell Significance Index: -0.9100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0012
    Cell Significance Index: -2.3200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0022
    Cell Significance Index: -0.4500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0022
    Cell Significance Index: -4.0700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0028
    Cell Significance Index: -4.2900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0032
    Cell Significance Index: -2.3500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0034
    Cell Significance Index: -2.1800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0040
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0043
    Cell Significance Index: -3.2200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0056
    Cell Significance Index: -3.1800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0057
    Cell Significance Index: -0.2900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0059
    Cell Significance Index: -2.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0078
    Cell Significance Index: -1.4100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0083
    Cell Significance Index: -0.3400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0089
    Cell Significance Index: -4.0500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0090
    Cell Significance Index: -2.6000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0091
    Cell Significance Index: -0.1900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0095
    Cell Significance Index: -1.3800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0098
    Cell Significance Index: -1.2100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0103
    Cell Significance Index: -0.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0110
    Cell Significance Index: -1.1200
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0116
    Cell Significance Index: -0.1500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0132
    Cell Significance Index: -0.3400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0138
    Cell Significance Index: -1.8900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0144
    Cell Significance Index: -3.0300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0149
    Cell Significance Index: -1.7100
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0183
    Cell Significance Index: -0.1400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0194
    Cell Significance Index: -0.6200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0215
    Cell Significance Index: -2.5300
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0215
    Cell Significance Index: -0.1400
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0260
    Cell Significance Index: -0.3700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0262
    Cell Significance Index: -0.7700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0265
    Cell Significance Index: -0.5500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0271
    Cell Significance Index: -2.1500
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0285
    Cell Significance Index: -0.3600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0285
    Cell Significance Index: -0.4200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0304
    Cell Significance Index: -0.5200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0311
    Cell Significance Index: -0.6500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0358
    Cell Significance Index: -2.3100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0363
    Cell Significance Index: -2.4400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0418
    Cell Significance Index: -2.1800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0429
    Cell Significance Index: -1.0400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0433
    Cell Significance Index: -1.0800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0438
    Cell Significance Index: -0.9600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0440
    Cell Significance Index: -0.5000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0443
    Cell Significance Index: -1.2700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0444
    Cell Significance Index: -3.4100
  • Cell Name: CD141-positive myeloid dendritic cell (CL0002394)
    Fold Change: -0.0453
    Cell Significance Index: -0.4900
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0476
    Cell Significance Index: -0.5200
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0535
    Cell Significance Index: -0.2800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0547
    Cell Significance Index: -3.0700
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0590
    Cell Significance Index: -0.5100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0598
    Cell Significance Index: -1.6000
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0602
    Cell Significance Index: -0.6500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0613
    Cell Significance Index: -1.0100
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.0640
    Cell Significance Index: -0.4600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0649
    Cell Significance Index: -2.8700

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** CYP27B1 is a member of the cytochrome P450 family, specifically the subfamily B. It is a mitochondrial enzyme, localized to the outer membrane of the mitochondria. The gene is highly expressed in various tissues, including the kidney, colon, cerebral cortex, and intestinal epithelial cells. The protein product of CYP27B1, 25-hydroxyvitamin D-1 alpha hydroxylase, is a monooxygenase enzyme that catalyzes the hydroxylation of 25(OH)D to form 1,25(OH)2D. **Pathways and Functions** CYP27B1 is involved in several key pathways, including: 1. **Calcium ion homeostasis**: CYP27B1 plays a crucial role in regulating calcium levels in the blood by converting 25(OH)D into 1,25(OH)2D, which is then transported to the kidneys for excretion. 2. **Bone mineralization**: 1,25(OH)2D is essential for maintaining bone mineralization by regulating the expression of genes involved in bone formation and resorption. 3. **Vitamin D metabolism**: CYP27B1 is involved in the catabolism of vitamin D, converting 25(OH)D into 1,25(OH)2D, which is then further metabolized into other active and inactive forms. 4. **Cellular differentiation**: 1,25(OH)2D regulates the expression of genes involved in cellular differentiation, including keratinocyte differentiation. **Clinical Significance** Dysregulation of CYP27B1 has been associated with various diseases, including: 1. **Rickets and osteomalacia**: Deficiencies in 1,25(OH)2D can lead to rickets and osteomalacia, characterized by softening of the bones. 2. **Vitamin D deficiency**: Hypovitaminosis D, a deficiency in 25(OH)D, can lead to a range of symptoms, including bone pain, muscle weakness, and increased risk of falls. 3. **Cancer**: Abnormalities in vitamin D metabolism, including dysregulation of CYP27B1, have been linked to an increased risk of certain cancers, such as colorectal and breast cancer. 4. **Autoimmune diseases**: Dysregulation of CYP27B1 has been implicated in the development of autoimmune diseases, such as type 1 diabetes and multiple sclerosis. In conclusion, CYP27B1 plays a critical role in maintaining calcium homeostasis, bone mineralization, and vitamin D metabolism. Dysregulation of this gene has been associated with various diseases, highlighting the importance of this enzyme in human health.

Genular Protein ID: 2101484404

Symbol: CP27B_HUMAN

Name: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

UniProtKB Accession Codes:

O15528 B2RC61 Q548T3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 31 ChEMBL 1 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 EC 2 EMBL 12 Ensembl 1 ExpressionAtlas 1 GO 27 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 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 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 16 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 neXtProt 1

Citations:

PubMed ID: 9428799

Title: Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha.

PubMed ID: 9428799

DOI: 10.1089/dna.1997.16.1499

PubMed ID: 9344864

Title: Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase.

PubMed ID: 9344864

DOI: 10.1006/bbrc.1997.7508

PubMed ID: 9415400

Title: Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1.

PubMed ID: 9415400

DOI: 10.1210/mend.11.13.0035

PubMed ID: 12496369

Title: Targeted disruption of the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in ras-transformed keratinocytes demonstrates that locally produced 1alpha,25-dihydroxyvitamin D3 suppresses growth and induces differentiation in an autocrine fashion.

PubMed ID: 12496369

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 10518789

Title: Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli.

PubMed ID: 10518789

DOI: 10.1046/j.1432-1327.1999.00794.x

PubMed ID: 22862690

Title: Expression of human CYP27B1 in Escherichia coli and characterization in phospholipid vesicles.

PubMed ID: 22862690

DOI: 10.1111/j.1742-4658.2012.08736.x

PubMed ID: 9486994

Title: Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

PubMed ID: 9486994

DOI: 10.1056/nejm199803053381004

PubMed ID: 9837822

Title: Genetics of vitamin D 1-alpha-hydroxylase deficiency in 17 families.

PubMed ID: 9837822

DOI: 10.1086/302156

PubMed ID: 10320521

Title: Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

PubMed ID: 10320521

DOI: 10.1359/jbmr.1999.14.5.730

PubMed ID: 10566658

Title: No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.

PubMed ID: 10566658

DOI: 10.1210/jcem.84.11.6131

PubMed ID: 12050193

Title: Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.

PubMed ID: 12050193

DOI: 10.1210/jcem.87.6.8534

Sequence Information:

  • Length: 508
  • Mass: 56504
  • Checksum: 7F0611EFAD1B5C1C
  • Sequence:
    • MTQTLKYASR VFHRVRWAPE LGASLGYREY HSARRSLADI PGPSTPSFLA ELFCKGGLSR 
LHELQVQGAA HFGPVWLASF GTVRTVYVAA PALVEELLRQ EGPRPERCSF SPWTEHRRCR 
QRACGLLTAE GEEWQRLRSL LAPLLLRPQA AARYAGTLNN VVCDLVRRLR RQRGRGTGPP 
ALVRDVAGEF YKFGLEGIAA VLLGSRLGCL EAQVPPDTET FIRAVGSVFV STLLTMAMPH 
WLRHLVPGPW GRLCRDWDQM FAFAQRHVER REAEAAMRNG GQPEKDLESG AHLTHFLFRE 
ELPAQSILGN VTELLLAGVD TVSNTLSWAL YELSRHPEVQ TALHSEITAA LSPGSSAYPS 
ATVLSQLPLL KAVVKEVLRL YPVVPGNSRV PDKDIHVGDY IIPKNTLVTL CHYATSRDPA 
QFPEPNSFRP ARWLGEGPTP HPFASLPFGF GKRSCMGRRL AELELQMALA QILTHFEVQP 
EPGAAPVRPK TRTVLVPERS INLQFLDR

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.