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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.93
    Marker Score: 3988
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.17
    Marker Score: 848
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71834
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48059
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.95
    Marker Score: 645
  • 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: 5340
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.89
    Marker Score: 368
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.89
    Marker Score: 2089
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.83
    Marker Score: 1569
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.75
    Marker Score: 1076
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 568.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2981
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.66
    Marker Score: 437
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.63
    Marker Score: 1277
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.62
    Marker Score: 9736.5
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.6
    Marker Score: 212
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 447
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.54
    Marker Score: 344
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 211
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 277
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.44
    Marker Score: 470.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.4
    Marker Score: 242
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.39
    Marker Score: 222
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.39
    Marker Score: 1918
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.39
    Marker Score: 185
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3
    Marker Score: 631.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.29
    Marker Score: 1033
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.29
    Marker Score: 207
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.27
    Marker Score: 274
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.25
    Marker Score: 445
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.24
    Marker Score: 106
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.23
    Marker Score: 59
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.18
    Marker Score: 55
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.16
    Marker Score: 53
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.16
    Marker Score: 91
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.16
    Marker Score: 47
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.16
    Marker Score: 443
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.15
    Marker Score: 41
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.15
    Marker Score: 577
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.14
    Marker Score: 86
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.13
    Marker Score: 48
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.12
    Marker Score: 1661
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 0.12
    Marker Score: 96
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.12
    Marker Score: 59
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.11
    Marker Score: 75
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.11
    Marker Score: 114
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.1
    Marker Score: 40
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 0.1
    Marker Score: 43
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1
    Marker Score: 33
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.09
    Marker Score: 137
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.09
    Marker Score: 251
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.08
    Marker Score: 103
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.08
    Marker Score: 93
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.08
    Marker Score: 79
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.08
    Marker Score: 82
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.08
    Marker Score: 47
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.08
    Marker Score: 79
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.08
    Marker Score: 16
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.07
    Marker Score: 72
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.07
    Marker Score: 50
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.07
    Marker Score: 467
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.07
    Marker Score: 75
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.07
    Marker Score: 24
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.07
    Marker Score: 24
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.06
    Marker Score: 156
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.06
    Marker Score: 102
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.06
    Marker Score: 403
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.06
    Marker Score: 324
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.06
    Marker Score: 19
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.06
    Marker Score: 68
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.06
    Marker Score: 35
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.06
    Marker Score: 24
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.06
    Marker Score: 39
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.06
    Marker Score: 66
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.06
    Marker Score: 42
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.06
    Marker Score: 145

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Other Information

**Key characteristics:** * The gene is located on chromosome 19p13.1 * It is a large gene with a length of approximately 10.5 kb * The protein encoded by CYP27B1 is a transmembrane protein with a molecular weight of approximately 300 kDa * It is expressed in a variety of cell types, including renal cells, colonic epithelial cells, and brain cells **Pathways and functions:** * CYP27B1 is involved in multiple pathways, including the regulation of calcium ion transport, the metabolism of hormones and drugs, and the metabolism of vitamins. * It is involved in the regulation of cell population proliferation by interacting with other CYP450 enzymes. * It also plays a role in the metabolism of cholesterol and bile acids. **Clinical significance:** * Mutations in the CYP27B1 gene have been linked to several human diseases, including vitamin D-resistant rickets, osteoporosis, and hypertension. * CYP27B1 is a potential therapeutic target for these diseases, as it can be used to treat them by increasing the production of vitamin D. **Additional notes:** * CYP27B1 is a highly conserved protein, with similar genes found in other mammals. * It is a key enzyme in the production of 25(OH)D3, a critical hormone for calcium homeostasis. * Mutations in CYP27B1 can lead to the accumulation of 25(OH)D3 in the body, which can cause a number of health problems.

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 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 27 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 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 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 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. For the full schema, download it here.