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)

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

  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.58
    Marker Score: 3128
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.58
    Marker Score: 66086
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 2.46
    Marker Score: 14945
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.44
    Marker Score: 3288
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.63
    Marker Score: 3910
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.62
    Marker Score: 5323
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.53
    Marker Score: 8237
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.53
    Marker Score: 6605
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.51
    Marker Score: 9692
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.51
    Marker Score: 8940.5
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168097.5
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.4
    Marker Score: 2163
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.36
    Marker Score: 5022.5
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.35
    Marker Score: 2210.5
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.34
    Marker Score: 850
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.33
    Marker Score: 1663
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.23
    Marker Score: 436
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.23
    Marker Score: 26181
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.12
    Marker Score: 5361.5
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.1
    Marker Score: 460
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.08
    Marker Score: 2823
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.08
    Marker Score: 629
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251742
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.03
    Marker Score: 2349
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.02
    Marker Score: 778
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.02
    Marker Score: 1170
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71765
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47990
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.99
    Marker Score: 4135
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 498
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 452
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.93
    Marker Score: 544
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.93
    Marker Score: 213
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.91
    Marker Score: 623
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2727
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.91
    Marker Score: 367
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.9
    Marker Score: 2825
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5006
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.87
    Marker Score: 578.5
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.85
    Marker Score: 47660
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.81
    Marker Score: 1985
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.8
    Marker Score: 174
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.8
    Marker Score: 855
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.79
    Marker Score: 2794.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1273
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 314
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.78
    Marker Score: 679
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.78
    Marker Score: 6786
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.77
    Marker Score: 1570
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.77
    Marker Score: 1690.5
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.76
    Marker Score: 285
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.75
    Marker Score: 3706.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 387
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.74
    Marker Score: 3106
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 468
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.73
    Marker Score: 1721
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 642
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.7
    Marker Score: 366
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.69
    Marker Score: 1256.5
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.69
    Marker Score: 154.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.68
    Marker Score: 1006.5
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.68
    Marker Score: 2329
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.67
    Marker Score: 1674
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.66
    Marker Score: 457
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.66
    Marker Score: 246
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.65
    Marker Score: 631
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.65
    Marker Score: 158
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.65
    Marker Score: 3890
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.64
    Marker Score: 157
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.64
    Marker Score: 1011
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.63
    Marker Score: 326
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.63
    Marker Score: 417
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.63
    Marker Score: 294
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.61
    Marker Score: 23348.5
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.61
    Marker Score: 231
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.61
    Marker Score: 5310
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.6
    Marker Score: 241
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.6
    Marker Score: 967
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.6
    Marker Score: 191
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.6
    Marker Score: 395.5
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6
    Marker Score: 631
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.6
    Marker Score: 739
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.59
    Marker Score: 1469
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.58
    Marker Score: 169
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.58
    Marker Score: 533
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.58
    Marker Score: 568
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.58
    Marker Score: 218
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.58
    Marker Score: 514
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.58
    Marker Score: 2399
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.57
    Marker Score: 198.5
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.56
    Marker Score: 691
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.55
    Marker Score: 1054
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.55
    Marker Score: 191
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 439

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Other Information

**Key characteristics:** * It is a secreted protein. * It is expressed in a variety of cell types, including lens epithelial cells, macrophages, and hepatocytes. * It is involved in bile acid and bile salt metabolism. **Pathways and functions:** * CYP27A1 is involved in the metabolism of bile acids and bile salts. * It catalyzes the reduction of various bile acids to their corresponding bile salts. * This process is important for the maintenance of bile homeostasis and the elimination of potentially toxic bile acids. **Clinical significance:** * Mutations in the CYP27A1 gene have been linked to several human diseases, including cholestatic liver disease, primary sclerosing cholangitis, and liver cancer. * These mutations can lead to the accumulation of harmful bile acids in the blood, which can damage liver cells and tissues. * Therefore, CYP27A1 inhibitors are being investigated as potential treatments for these diseases.

Genular Protein ID: 1216121601

Symbol: CP27A_HUMAN

Name: Cytochrome P-450C27/25

UniProtKB Accession Codes:

Q02318 A8K303 Q6LDB4 Q86YQ6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 100 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 EC 1 EMBL 8 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 16 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 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 5 RefSeq 1 Rhea 60 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 3 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.