Details for: CYP27A1

Gene ID: 1593

Symbol: CYP27A1

Ensembl ID: ENSG00000135929

Description: cytochrome P450 family 27 subfamily A 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: 168.9541
    Cell Significance Index: -26.2800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 60.9712
    Cell Significance Index: -24.7700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 57.6757
    Cell Significance Index: -27.2300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 25.9023
    Cell Significance Index: -24.7300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.3146
    Cell Significance Index: -26.2800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.3253
    Cell Significance Index: -27.6600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.6598
    Cell Significance Index: -26.2800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.1023
    Cell Significance Index: 417.2000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4739
    Cell Significance Index: 160.3200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.4433
    Cell Significance Index: 24.2800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.1054
    Cell Significance Index: 78.1800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.0362
    Cell Significance Index: 17.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.9951
    Cell Significance Index: 439.9500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.6958
    Cell Significance Index: 18.6500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6525
    Cell Significance Index: 9.3700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5286
    Cell Significance Index: 52.2900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5040
    Cell Significance Index: 23.5000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.4734
    Cell Significance Index: 9.2400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.4709
    Cell Significance Index: 23.8000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4247
    Cell Significance Index: 54.4500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.4096
    Cell Significance Index: 3.2700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.3887
    Cell Significance Index: 598.3700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3228
    Cell Significance Index: 16.8200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.3198
    Cell Significance Index: 5.9100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3036
    Cell Significance Index: 57.7800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.3004
    Cell Significance Index: 553.9900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2635
    Cell Significance Index: 13.6900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.2432
    Cell Significance Index: 24.8400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1803
    Cell Significance Index: 162.8200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1599
    Cell Significance Index: 7.2500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1545
    Cell Significance Index: 7.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1446
    Cell Significance Index: 4.1700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1209
    Cell Significance Index: 1.8700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.1201
    Cell Significance Index: 1.6900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0881
    Cell Significance Index: 11.3900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0869
    Cell Significance Index: 11.9300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0819
    Cell Significance Index: 14.7600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0751
    Cell Significance Index: 141.3300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0515
    Cell Significance Index: 0.7600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0425
    Cell Significance Index: 57.7700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0347
    Cell Significance Index: 6.9700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0206
    Cell Significance Index: 0.7300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0110
    Cell Significance Index: 4.9900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0073
    Cell Significance Index: 4.6300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0005
    Cell Significance Index: -0.0400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0095
    Cell Significance Index: -3.3900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0134
    Cell Significance Index: -8.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0161
    Cell Significance Index: -11.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0181
    Cell Significance Index: -12.5500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0217
    Cell Significance Index: -16.4100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0270
    Cell Significance Index: -15.2500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0310
    Cell Significance Index: -16.9400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0322
    Cell Significance Index: -23.6200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0407
    Cell Significance Index: -0.4900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0454
    Cell Significance Index: -0.6200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0724
    Cell Significance Index: -20.8300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0781
    Cell Significance Index: -16.4600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0793
    Cell Significance Index: -2.5400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0795
    Cell Significance Index: -9.7700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0879
    Cell Significance Index: -0.9100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0887
    Cell Significance Index: -5.5900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0895
    Cell Significance Index: -15.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1045
    Cell Significance Index: -15.1900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1045
    Cell Significance Index: -2.5500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1081
    Cell Significance Index: -3.0200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1140
    Cell Significance Index: -13.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1427
    Cell Significance Index: -6.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1714
    Cell Significance Index: -19.9800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1805
    Cell Significance Index: -3.9100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2173
    Cell Significance Index: -8.2300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2196
    Cell Significance Index: -22.8700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2220
    Cell Significance Index: -25.3400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2273
    Cell Significance Index: -4.8400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2288
    Cell Significance Index: -17.5600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2349
    Cell Significance Index: -6.4000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2398
    Cell Significance Index: -28.2800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2459
    Cell Significance Index: -13.8000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.3110
    Cell Significance Index: -4.9900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3224
    Cell Significance Index: -5.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3231
    Cell Significance Index: -25.5900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3311
    Cell Significance Index: -22.2600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3340
    Cell Significance Index: -8.3500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3513
    Cell Significance Index: -21.5900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3599
    Cell Significance Index: -9.2500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3642
    Cell Significance Index: -19.1200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3685
    Cell Significance Index: -22.5900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.4070
    Cell Significance Index: -8.7000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.4267
    Cell Significance Index: -6.7700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4340
    Cell Significance Index: -28.0000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5032
    Cell Significance Index: -13.4600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.5152
    Cell Significance Index: -7.7200
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.5251
    Cell Significance Index: -5.6300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5762
    Cell Significance Index: -16.5200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.6006
    Cell Significance Index: -9.0500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6314
    Cell Significance Index: -22.1200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.6564
    Cell Significance Index: -6.0500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.6651
    Cell Significance Index: -11.5000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.6734
    Cell Significance Index: -29.2800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6742
    Cell Significance Index: -24.7500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6783
    Cell Significance Index: -23.5700

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:** 1. **Cholesterol Hydroxylase Activity**: CYP27A1 is a cholesterol hydroxylase, responsible for the conversion of cholesterol into 7α-hydroxycholesterol, a key intermediate in the biosynthesis of bile acids. 2. **Bile Acid Biosynthesis**: The enzyme plays a crucial role in the synthesis of bile acids, which are essential for the emulsification and absorption of dietary fats. 3. **Regulation of Cholesterol Metabolism**: CYP27A1's activity is tightly regulated by various factors, including cholesterol levels, which ensures that bile acid synthesis is balanced with cholesterol homeostasis. 4. **Tissue-Specific Expression**: The gene is expressed in various tissues, including the liver, kidney, and intestine, highlighting its widespread role in lipid metabolism. **Pathways and Functions:** 1. **Bile Acid Biosynthesis**: CYP27A1 is involved in the synthesis of bile acids from cholesterol, a process that involves the conversion of cholesterol into 7α-hydroxycholesterol and subsequent hydroxylation steps. 2. **Cholesterol Catabolic Process**: The enzyme is also involved in the catabolism of cholesterol, with implications for cholesterol homeostasis and lipid metabolism. 3. **Calcitriol Biosynthesis**: CYP27A1 is involved in the synthesis of calcitriol, the active form of vitamin D3, which plays a crucial role in calcium homeostasis and bone metabolism. 4. **Biological Oxidations**: The enzyme participates in various biological oxidation reactions, including the metabolism of steroids and lipids. **Clinical Significance:** 1. **Dysbileia**: Mutations in the CYP27A1 gene have been associated with dysbileia, a condition characterized by impaired bile acid synthesis and cholesterol homeostasis. 2. **Cholesterol Metabolic Disorders**: Abnormalities in CYP27A1 activity have been linked to various cholesterol metabolic disorders, including hypercholesterolemia and atherosclerosis. 3. **Vitamin D Deficiency**: Impaired calcitriol synthesis has been observed in individuals with CYP27A1 mutations, highlighting the enzyme's role in vitamin D metabolism. 4. **Cancer**: The enzyme's involvement in cholesterol metabolism and bile acid synthesis has implications for cancer development and progression, particularly in the context of liver and colorectal cancer. In conclusion, CYP27A1 is a crucial enzyme in the regulation of cholesterol metabolism and bile acid biosynthesis. Its dysregulation has significant implications for various physiological and pathological processes, highlighting the importance of this gene in maintaining lipid homeostasis and overall health.

Genular Protein ID: 1216121601

Symbol: CP27A_HUMAN

Name: Cytochrome P-450C27/25

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1708392

Title: Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis.

PubMed ID: 1708392

DOI: 10.1016/s0021-9258(20)89517-9

PubMed ID: 7690968

Title: Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions.

PubMed ID: 7690968

DOI: 10.1073/pnas.90.18.8668

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: 8514861

Title: Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.

PubMed ID: 8514861

DOI: 10.1172/jci116484

PubMed ID: 9660774

Title: Activities of recombinant human cytochrome P450c27 (CYP27) which produce intermediates of alternative bile acid biosynthetic pathways.

PubMed ID: 9660774

DOI: 10.1074/jbc.273.29.18153

PubMed ID: 11412116

Title: Putative helix F contributes to regioselectivity of hydroxylation in mitochondrial cytochrome P450 27A1.

PubMed ID: 11412116

DOI: 10.1021/bi010193i

PubMed ID: 12077124

Title: Metabolism of 4 beta -hydroxycholesterol in humans.

PubMed ID: 12077124

DOI: 10.1074/jbc.m201712200

PubMed ID: 15465040

Title: Metabolism of vitamin D by human microsomal CYP2R1.

PubMed ID: 15465040

DOI: 10.1016/j.bbrc.2004.09.073

PubMed ID: 21411718

Title: Conversion of 7-ketocholesterol to oxysterol metabolites by recombinant CYP27A1 and retinal pigment epithelial cells.

PubMed ID: 21411718

DOI: 10.1194/jlr.m014217

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28190002

Title: Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.

PubMed ID: 28190002

DOI: 10.1074/jbc.m116.774760

PubMed ID: 2019602

Title: Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

PubMed ID: 2019602

DOI: 10.1016/s0021-9258(20)89518-0

PubMed ID: 7915755

Title: Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).

PubMed ID: 7915755

PubMed ID: 9186905

Title: Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.

PubMed ID: 9186905

PubMed ID: 9790667

Title: A novel arg362ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.

PubMed ID: 9790667

DOI: 10.1021/bi9807660

PubMed ID: 12000359

Title: Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.

PubMed ID: 12000359

DOI: 10.1034/j.1399-0004.2002.610303.x

Sequence Information:

  • Length: 531
  • Mass: 60235
  • Checksum: 62025EB670DBD8E9
  • Sequence:
  • MAALGCARLR WALRGAGRGL CPHGARAKAA IPAALPSDKA TGAPGAGPGV RRRQRSLEEI 
    PRLGQLRFFF QLFVQGYALQ LHQLQVLYKA KYGPMWMSYL GPQMHVNLAS APLLEQVMRQ 
    EGKYPVRNDM ELWKEHRDQH DLTYGPFTTE GHHWYQLRQA LNQRLLKPAE AALYTDAFNE 
    VIDDFMTRLD QLRAESASGN QVSDMAQLFY YFALEAICYI LFEKRIGCLQ RSIPEDTVTF 
    VRSIGLMFQN SLYATFLPKW TRPVLPFWKR YLDGWNAIFS FGKKLIDEKL EDMEAQLQAA 
    GPDGIQVSGY LHFLLASGQL SPREAMGSLP ELLMAGVDTT SNTLTWALYH LSKDPEIQEA 
    LHEEVVGVVP AGQVPQHKDF AHMPLLKAVL KETLRLYPVV PTNSRIIEKE IEVDGFLFPK 
    NTQFVFCHYV VSRDPTAFSE PESFQPHRWL RNSQPATPRI QHPFGSVPFG YGVRACLGRR 
    IAELEMQLLL ARLIQKYKVV LAPETGELKS VARIVLVPNK KVGLQFLQRQ C

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.