UniProtKB - Q02318 (CP27A_HUMAN)
Protein
Sterol 26-hydroxylase, mitochondrial
Gene
CYP27A1
Organism
Homo sapiens (Human)
Status
Functioni
Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:9660774, PubMed:12077124, PubMed:21411718, PubMed:28190002). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways (PubMed:9660774, PubMed:1708392, PubMed:11412116, PubMed:2019602, PubMed:7915755, PubMed:9186905, PubMed:9790667). May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism (PubMed:9660774, PubMed:12077124). Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation (PubMed:28190002). Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium (PubMed:21411718). May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form (PubMed:15465040).11 Publications
Catalytic activityi
- 5β-cholestane-3α,7α,12α-triol + 5 H+ + 3 O2 + 6 reduced [adrenodoxin] = (25R)-3α,7α,12α-trihydroxy-5β-cholestan-26-oate + 4 H2O + 6 oxidized [adrenodoxin]5 PublicationsEC:1.14.15.155 PublicationsThis reaction proceeds in the forward1 Publication direction.
- cholestanol + 2 H+ + O2 + 2 reduced [adrenodoxin] = (25R)-26-hydroxycholestanol + H2O + 2 oxidized [adrenodoxin]1 PublicationThis reaction proceeds in the forwardCurated direction.
- (25R)-3β-hydroxycholest-5-en-7-one-26-al + H+ + O2 + 2 reduced [adrenodoxin] = (25R)-3β-hydroxycholest-5-en-7-one-26-oate + H2O + 2 oxidized [adrenodoxin]1 PublicationThis reaction proceeds in the forwardCurated direction.
- (25R)-3β,26-dihydroxycholest-5-en-7-one + 2 H+ + O2 + 2 reduced [adrenodoxin] = (25R)-3β-hydroxycholest-5-en-7-one-26-al + 2 H2O + 2 oxidized [adrenodoxin]1 PublicationThis reaction proceeds in the forwardCurated direction.
- 3β-hydroxycholest-5-en-7-one + 2 H+ + O2 + 2 reduced [adrenodoxin] = (25R)-3β,26-dihydroxycholest-5-en-7-one + H2O + 2 oxidized [adrenodoxin]1 PublicationThis reaction proceeds in the forwardCurated direction.
- calciol + 2 H+ + O2 + 2 reduced [adrenodoxin] = calcidiol + H2O + 2 oxidized [adrenodoxin]1 PublicationThis reaction proceeds in the forwardCurated direction.
- (25R)-5β-cholestane-3α,7α,12α,26-tetrol + 2 H+ + O2 + 2 reduced [adrenodoxin] = (25R)-3α,7α,12α-trihydroxy-5β-cholestan-26-al + 2 H2O + 2 oxidized [adrenodoxin]2 PublicationsThis reaction proceeds in the forward1 Publication direction.
- cholesterol + 2 H+ + O2 + 2 reduced [adrenodoxin] = (25R)-cholest-5-ene-3β,26-diol + H2O + 2 oxidized [adrenodoxin]3 PublicationsThis reaction proceeds in the forwardCurated direction.
- (25R)-3β,4β-dihydroxycholest-5-en-26-al + H+ + O2 + 2 reduced [adrenodoxin] = (25R)-3β,4β-dihydroxycholest-5-en-26-oate + H2O + 2 oxidized [adrenodoxin]1 PublicationThis reaction proceeds in the forwardCurated direction.
- (25R)-4β,26-dihydroxycholesterol + 2 H+ + O2 + 2 reduced [adrenodoxin] = (25R)-3β,4β-dihydroxycholest-5-en-26-al + 2 H2O + 2 oxidized [adrenodoxin]1 PublicationThis reaction proceeds in the forwardCurated direction.
- 4β-hydroxycholesterol + 2 H+ + O2 + 2 reduced [adrenodoxin] = (25R)-4β,26-dihydroxycholesterol + H2O + 2 oxidized [adrenodoxin]1 PublicationThis reaction proceeds in the forwardCurated direction.
- (25R)-3β-hydroxy-5-cholesten-26-al + H+ + O2 + 2 reduced [adrenodoxin] = (25R)-3β-hydroxy-5-cholestenoate + H2O + 2 oxidized [adrenodoxin]2 PublicationsThis reaction proceeds in the forwardCurated direction.
- (25R)-cholest-5-ene-3β,26-diol + 2 H+ + O2 + 2 reduced [adrenodoxin] = (25R)-3β-hydroxy-5-cholesten-26-al + 2 H2O + 2 oxidized [adrenodoxin]2 PublicationsThis reaction proceeds in the forwardCurated direction.
- (25R)-3α,7α,12α-trihydroxy-5β-cholestan-26-al + H+ + O2 + 2 reduced [adrenodoxin] = (25R)-3α,7α,12α-trihydroxy-5β-cholestan-26-oate + H2O + 2 oxidized [adrenodoxin]2 PublicationsThis reaction proceeds in the forward1 Publication direction.
- 5β-cholestane-3α,7α,12α-triol + 2 H+ + O2 + 2 reduced [adrenodoxin] = (25R)-5β-cholestane-3α,7α,12α,26-tetrol + H2O + 2 oxidized [adrenodoxin]2 PublicationsThis reaction proceeds in the forward1 Publication direction.
Cofactori
hemeBy similarity
Kineticsi
kcat/KM=0.005 µmol/min for cholesterol and kcat/KM=0.018 µmol/min for (25R)-cholest-5-ene-3beta,26-diol.1 Publication
- Vmax=0.22 nmol/min/nmol enzyme toward cholesterol1 Publication
- Vmax=0.41 nmol/min/nmol enzyme toward 4beta-hydroxycholesterol1 Publication
- Vmax=0.20 mol/min/mol enzyme toward calciol1 Publication
: cholecalciferol biosynthesis Pathwayi
This protein is involved in the pathway cholecalciferol biosynthesis, which is part of Hormone biosynthesis.1 PublicationView all proteins of this organism that are known to be involved in the pathway cholecalciferol biosynthesis and in Hormone biosynthesis.
Pathwayi: cholesterol degradation
This protein is involved in the pathway cholesterol degradation, which is part of Steroid metabolism.2 PublicationsView all proteins of this organism that are known to be involved in the pathway cholesterol degradation and in Steroid metabolism.
Pathwayi: bile acid biosynthesis
This protein is involved in the pathway bile acid biosynthesis, which is part of Lipid metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway bile acid biosynthesis and in Lipid metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 476 | Iron (heme axial ligand) | 1 |
GO - Molecular functioni
- cholestanetriol 26-monooxygenase activity Source: UniProtKB
- cholesterol 26-hydroxylase activity Source: UniProtKB
- heme binding Source: UniProtKB
- iron ion binding Source: InterPro
- steroid hydroxylase activity Source: Reactome
- vitamin D3 25-hydroxylase activity Source: UniProtKB
GO - Biological processi
- bile acid biosynthetic process Source: UniProtKB
- calcitriol biosynthetic process from calciol Source: UniProtKB
- cholesterol catabolic process Source: UniProtKB
- cholesterol metabolic process Source: GO_Central
- sterol metabolic process Source: Reactome
Keywordsi
Molecular function | Monooxygenase, Oxidoreductase |
Biological process | Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol metabolism |
Ligand | Heme, Iron, Metal-binding |
Enzyme and pathway databases
BRENDAi | 1.14.99.38, 2681 |
PathwayCommonsi | Q02318 |
Reactomei | R-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-193775, Synthesis of bile acids and bile salts via 24-hydroxycholesterol R-HSA-193807, Synthesis of bile acids and bile salts via 27-hydroxycholesterol R-HSA-211976, Endogenous sterols R-HSA-5578996, Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) |
SIGNORi | Q02318 |
UniPathwayi | UPA00221 UPA00955 UPA01058 |
Chemistry databases
SwissLipidsi | SLP:000000142 |
Names & Taxonomyi
Protein namesi | Recommended name: Sterol 26-hydroxylase, mitochondrialBy similarity (EC:1.14.15.156 Publications)Alternative name(s): 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase1 Publication Cytochrome P-450C27/25 Cytochrome P450 27 Sterol 27-hydroxylase1 Publication Vitamin D(3) 25-hydroxylase1 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2605, CYP27A1 |
MIMi | 606530, gene |
neXtProti | NX_Q02318 |
VEuPathDBi | HostDB:ENSG00000135929.8 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane By similarity; Peripheral membrane protein By similarity
Note: Post-translationally targeted to mitochondria. All three of the receptor proteins in the TOM complex, TOMM70, TOMM20 and TOMM22 are required for the translocation across the mitochondrial outer membrane. After translocation into the matrix, associates with the inner membrane as a membrane extrinsic protein.By similarity
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB-SubCell
- mitochondrial matrix Source: Reactome
- mitochondrion Source: HPA
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Cerebrotendinous xanthomatosis (CTX)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionRare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016966 | 145 | G → E in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551313EnsemblClinVar. | 1 | |
Natural variantiVAR_001303 | 395 | R → C in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar. | 1 | |
Natural variantiVAR_012285 | 395 | R → S in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar. | 1 | |
Natural variantiVAR_012286 | 405 | R → Q in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908099EnsemblClinVar. | 1 | |
Natural variantiVAR_012287 | 474 | R → Q in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908097EnsemblClinVar. | 1 | |
Natural variantiVAR_012288 | 474 | R → W in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908098EnsemblClinVar. | 1 | |
Natural variantiVAR_001304 | 479 | R → C in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs72551322EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 240 | F → A: Impairs sterol 26-hydroxylase activity; when associated with A-244 and A-248. 1 Publication | 1 | |
Mutagenesisi | 240 | F → K: Impairs sterol 26-hydroxylase activity. 1 Publication | 1 | |
Mutagenesisi | 244 | I → A: Impairs sterol 26-hydroxylase activity; when associated with A-240 and A-248. 1 Publication | 1 | |
Mutagenesisi | 244 | I → K: Impairs sterol 26-hydroxylase activity. 1 Publication | 1 | |
Mutagenesisi | 248 | F → A: Impairs sterol 26-hydroxylase activity; when associated with A-240 and A-244. 1 Publication | 1 | |
Mutagenesisi | 248 | F → K: Impairs sterol 26-hydroxylase activity; confers demethylase activity. 1 Publication | 1 | |
Mutagenesisi | 268 | W → A: Reduces sterol 26-hydroxylase activity. 1 Publication | 1 | |
Mutagenesisi | 271 | Y → A: Reduces sterol 26-hydroxylase activity. 1 Publication | 1 |
Keywords - Diseasei
Cataract, Disease variantOrganism-specific databases
DisGeNETi | 1593 |
GeneReviewsi | CYP27A1 |
MalaCardsi | CYP27A1 |
MIMi | 213700, phenotype |
OpenTargetsi | ENSG00000135929 |
Orphaneti | 909, Cerebrotendinous xanthomatosis |
PharmGKBi | PA135 |
Miscellaneous databases
Pharosi | Q02318, Tchem |
Chemistry databases
ChEMBLi | CHEMBL5992 |
DrugBanki | DB06777, Chenodeoxycholic acid DB00169, Cholecalciferol DB06410, Doxercalciferol DB00153, Ergocalciferol DB00082, Pegvisomant |
DrugCentrali | Q02318 |
GuidetoPHARMACOLOGYi | 1369 |
Genetic variation databases
BioMutai | CYP27A1 |
DMDMi | 399288 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 33 | MitochondrionAdd BLAST | 33 | |
ChainiPRO_0000003618 | 34 – 531 | Sterol 26-hydroxylase, mitochondrialAdd BLAST | 498 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 283 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 509 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 520 | N6-acetyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q02318 |
jPOSTi | Q02318 |
MassIVEi | Q02318 |
MaxQBi | Q02318 |
PaxDbi | Q02318 |
PeptideAtlasi | Q02318 |
PRIDEi | Q02318 |
ProteomicsDBi | 58080 |
PTM databases
iPTMneti | Q02318 |
PhosphoSitePlusi | Q02318 |
Expressioni
Tissue specificityi
Expressed in the neural retina and underlying retinal pigment epithelium (at protein level) (PubMed:21411718). Expressed in the gray and white matter of cerebellum (at protein level) (PubMed:28190002).2 Publications
Gene expression databases
Bgeei | ENSG00000135929, Expressed in right lobe of liver and 221 other tissues |
ExpressionAtlasi | Q02318, baseline and differential |
Genevisiblei | Q02318, HS |
Organism-specific databases
HPAi | ENSG00000135929, Tissue enhanced (liver) |
Interactioni
Subunit structurei
Interacts with HSP70; this interaction is required for initial targeting to mitochondria.
By similarityProtein-protein interaction databases
BioGRIDi | 107965, 7 interactors |
IntActi | Q02318, 6 interactors |
STRINGi | 9606.ENSP00000258415 |
Chemistry databases
BindingDBi | Q02318 |
Miscellaneous databases
RNActi | Q02318, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 384 – 398 | Sterol-bindingSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Belongs to the cytochrome P450 family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG0159, Eukaryota |
GeneTreei | ENSGT00950000182905 |
HOGENOMi | CLU_001570_28_3_1 |
InParanoidi | Q02318 |
OMAi | SNTMTWA |
OrthoDBi | 871849at2759 |
PhylomeDBi | Q02318 |
TreeFami | TF105094 |
Family and domain databases
Gene3Di | 1.10.630.10, 1 hit |
InterProi | View protein in InterPro IPR001128, Cyt_P450 IPR017972, Cyt_P450_CS IPR002401, Cyt_P450_E_grp-I IPR036396, Cyt_P450_sf |
Pfami | View protein in Pfam PF00067, p450, 1 hit |
PRINTSi | PR00463, EP450I PR00385, P450 |
SUPFAMi | SSF48264, SSF48264, 1 hit |
PROSITEi | View protein in PROSITE PS00086, CYTOCHROME_P450, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q02318-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAALGCARLR WALRGAGRGL CPHGARAKAA IPAALPSDKA TGAPGAGPGV
60 70 80 90 100
RRRQRSLEEI PRLGQLRFFF QLFVQGYALQ LHQLQVLYKA KYGPMWMSYL
110 120 130 140 150
GPQMHVNLAS APLLEQVMRQ EGKYPVRNDM ELWKEHRDQH DLTYGPFTTE
160 170 180 190 200
GHHWYQLRQA LNQRLLKPAE AALYTDAFNE VIDDFMTRLD QLRAESASGN
210 220 230 240 250
QVSDMAQLFY YFALEAICYI LFEKRIGCLQ RSIPEDTVTF VRSIGLMFQN
260 270 280 290 300
SLYATFLPKW TRPVLPFWKR YLDGWNAIFS FGKKLIDEKL EDMEAQLQAA
310 320 330 340 350
GPDGIQVSGY LHFLLASGQL SPREAMGSLP ELLMAGVDTT SNTLTWALYH
360 370 380 390 400
LSKDPEIQEA LHEEVVGVVP AGQVPQHKDF AHMPLLKAVL KETLRLYPVV
410 420 430 440 450
PTNSRIIEKE IEVDGFLFPK NTQFVFCHYV VSRDPTAFSE PESFQPHRWL
460 470 480 490 500
RNSQPATPRI QHPFGSVPFG YGVRACLGRR IAELEMQLLL ARLIQKYKVV
510 520 530
LAPETGELKS VARIVLVPNK KVGLQFLQRQ C
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9J1K5 | C9J1K5_HUMAN | Sterol 26-hydroxylase, mitochondria... | CYP27A1 | 221 | Annotation score: | ||
F8WD90 | F8WD90_HUMAN | Sterol 26-hydroxylase, mitochondria... | CYP27A1 | 115 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 20 – 25 | LCPHGA → SAPTG in CAA42481 (PubMed:7690968).Curated | 6 | |
Sequence conflicti | 171 | A → R in CAA42481 (PubMed:7690968).Curated | 1 | |
Sequence conflicti | 359 | E → K in AAO21126 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016966 | 145 | G → E in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551313EnsemblClinVar. | 1 | |
Natural variantiVAR_061046 | 169 | A → V. Corresponds to variant dbSNP:rs59443548EnsemblClinVar. | 1 | |
Natural variantiVAR_048467 | 175 | T → M. Corresponds to variant dbSNP:rs2229381EnsemblClinVar. | 1 | |
Natural variantiVAR_001303 | 395 | R → C in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar. | 1 | |
Natural variantiVAR_012285 | 395 | R → S in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar. | 1 | |
Natural variantiVAR_012286 | 405 | R → Q in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908099EnsemblClinVar. | 1 | |
Natural variantiVAR_012287 | 474 | R → Q in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908097EnsemblClinVar. | 1 | |
Natural variantiVAR_012288 | 474 | R → W in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs121908098EnsemblClinVar. | 1 | |
Natural variantiVAR_001304 | 479 | R → C in CTX; impairs sterol 26-hydroxylase activity. 1 PublicationCorresponds to variant dbSNP:rs72551322EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M62401 mRNA Translation: AAA52142.1 X59812 mRNA Translation: CAA42481.1 AY178622 mRNA Translation: AAO21126.1 AK290418 mRNA Translation: BAF83107.1 CH471063 Genomic DNA Translation: EAW70654.1 BC040430 mRNA Translation: AAH40430.1 BC051851 mRNA Translation: AAH51851.1 S62709 Genomic DNA Translation: AAB27199.1 |
CCDSi | CCDS2423.1 |
PIRi | A39740 |
RefSeqi | NP_000775.1, NM_000784.3 |
Genome annotation databases
Ensembli | ENST00000258415; ENSP00000258415; ENSG00000135929 |
GeneIDi | 1593 |
KEGGi | hsa:1593 |
UCSCi | uc002viz.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M62401 mRNA Translation: AAA52142.1 X59812 mRNA Translation: CAA42481.1 AY178622 mRNA Translation: AAO21126.1 AK290418 mRNA Translation: BAF83107.1 CH471063 Genomic DNA Translation: EAW70654.1 BC040430 mRNA Translation: AAH40430.1 BC051851 mRNA Translation: AAH51851.1 S62709 Genomic DNA Translation: AAB27199.1 |
CCDSi | CCDS2423.1 |
PIRi | A39740 |
RefSeqi | NP_000775.1, NM_000784.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1MFX | model | - | A | 34-531 | [»] | |
SMRi | Q02318 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107965, 7 interactors |
IntActi | Q02318, 6 interactors |
STRINGi | 9606.ENSP00000258415 |
Chemistry databases
BindingDBi | Q02318 |
ChEMBLi | CHEMBL5992 |
DrugBanki | DB06777, Chenodeoxycholic acid DB00169, Cholecalciferol DB06410, Doxercalciferol DB00153, Ergocalciferol DB00082, Pegvisomant |
DrugCentrali | Q02318 |
GuidetoPHARMACOLOGYi | 1369 |
SwissLipidsi | SLP:000000142 |
PTM databases
iPTMneti | Q02318 |
PhosphoSitePlusi | Q02318 |
Genetic variation databases
BioMutai | CYP27A1 |
DMDMi | 399288 |
Proteomic databases
EPDi | Q02318 |
jPOSTi | Q02318 |
MassIVEi | Q02318 |
MaxQBi | Q02318 |
PaxDbi | Q02318 |
PeptideAtlasi | Q02318 |
PRIDEi | Q02318 |
ProteomicsDBi | 58080 |
Protocols and materials databases
Antibodypediai | 34289, 273 antibodies |
Genome annotation databases
Ensembli | ENST00000258415; ENSP00000258415; ENSG00000135929 |
GeneIDi | 1593 |
KEGGi | hsa:1593 |
UCSCi | uc002viz.5, human |
Organism-specific databases
CTDi | 1593 |
DisGeNETi | 1593 |
GeneCardsi | CYP27A1 |
GeneReviewsi | CYP27A1 |
HGNCi | HGNC:2605, CYP27A1 |
HPAi | ENSG00000135929, Tissue enhanced (liver) |
MalaCardsi | CYP27A1 |
MIMi | 213700, phenotype 606530, gene |
neXtProti | NX_Q02318 |
OpenTargetsi | ENSG00000135929 |
Orphaneti | 909, Cerebrotendinous xanthomatosis |
PharmGKBi | PA135 |
VEuPathDBi | HostDB:ENSG00000135929.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0159, Eukaryota |
GeneTreei | ENSGT00950000182905 |
HOGENOMi | CLU_001570_28_3_1 |
InParanoidi | Q02318 |
OMAi | SNTMTWA |
OrthoDBi | 871849at2759 |
PhylomeDBi | Q02318 |
TreeFami | TF105094 |
Enzyme and pathway databases
UniPathwayi | UPA00221 UPA00955 UPA01058 |
BRENDAi | 1.14.99.38, 2681 |
PathwayCommonsi | Q02318 |
Reactomei | R-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-193775, Synthesis of bile acids and bile salts via 24-hydroxycholesterol R-HSA-193807, Synthesis of bile acids and bile salts via 27-hydroxycholesterol R-HSA-211976, Endogenous sterols R-HSA-5578996, Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) |
SIGNORi | Q02318 |
Miscellaneous databases
BioGRID-ORCSi | 1593, 2 hits in 875 CRISPR screens |
ChiTaRSi | CYP27A1, human |
GeneWikii | CYP27A1 |
GenomeRNAii | 1593 |
Pharosi | Q02318, Tchem |
PROi | PR:Q02318 |
RNActi | Q02318, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135929, Expressed in right lobe of liver and 221 other tissues |
ExpressionAtlasi | Q02318, baseline and differential |
Genevisiblei | Q02318, HS |
Family and domain databases
Gene3Di | 1.10.630.10, 1 hit |
InterProi | View protein in InterPro IPR001128, Cyt_P450 IPR017972, Cyt_P450_CS IPR002401, Cyt_P450_E_grp-I IPR036396, Cyt_P450_sf |
Pfami | View protein in Pfam PF00067, p450, 1 hit |
PRINTSi | PR00463, EP450I PR00385, P450 |
SUPFAMi | SSF48264, SSF48264, 1 hit |
PROSITEi | View protein in PROSITE PS00086, CYTOCHROME_P450, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CP27A_HUMAN | |
Accessioni | Q02318Primary (citable) accession number: Q02318 Secondary accession number(s): A8K303, Q6LDB4, Q86YQ6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | July 1, 1993 | |
Last modified: | February 10, 2021 | |
This is version 201 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM