Property Summary

NCBI Gene PubMed Count 74
Grant Count 182
R01 Count 103
Funding $42,587,266.24
PubMed Score 955.54
PubTator Score 690.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.654 0.025
non-small cell lung cancer -1.962 0.000
lung cancer -1.400 0.000
active Crohn's disease -1.168 0.008
lung adenocarcinoma -1.200 0.000
lung carcinoma -1.900 0.000
psoriasis -1.100 0.000

Synonym

Accession Q02318 A8K303 Q6LDB4 Q86YQ6
Symbols CTX
CP27
CYP27

Gene

PANTHER Protein Class (2)

PDB

1MFX  

Gene RIF (58)

PMID Text
26643207 Analysis of ~60,000 human exomes points to underdiagnosis of cerebrotendinous xanthomatosis due to CYP27A1 mutations.
26638999 CYP27A1 belongs to the mitochondrial CYPs and plays a crucial role in the cholesterol homeostasis.
26374826 marinobufagenin is derived from bile acids and its biosynthesis is initiated by CYP27A1 enzyme
25845986 The 25-hydroxylases CYP2R1 and CYP27A1 catalyze vitamin D to its circulating form 25-hydroxyvitamin D.
25447658 In a patient with cerebrotendinous xanthomatosis, analysis of the CYP27A1 gene identified compound heterozygosity for p.A335V, a novel mutation.
24732451 Studied whether abnormal endometrial expression of CYP27A1 and/or CYP2R1 may impair VDR-antiproliferative properties in endometrial carcinoma.
24584636 study describes two unrelated Sardinian families sharing the same CYP27A1 mutation, p.Arg479Cys; phenotype of the patients is characteristic of cerebrotendinous xanthomatosis
24280213 Data indicate that inhibition of CYP27A1 activity or knockdown and deletion of the Cyp27a1 gene induced adipocyte differentiation.
24096962 The expression of CYP27A1 modulates the concentrations of active glucocorticoids in both humans and mice and in vitro.
24080357 Cyp27A1 mutations were identified in early onset CAD pedigree.
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AA Sequence

MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFF      1 - 70
QLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQH     71 - 140
DLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFY    141 - 210
YFALEAICYILFEKRIGCLQRSIPEDTVTFVRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFS    211 - 280
FGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYH    281 - 350
LSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPK    351 - 420
NTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRRIAELEMQLLL    421 - 490
ARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC                                 491 - 531
//

Text Mined References (73)

PMID Year Title
26643207 2015 Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
26638999 2016 Expression of human CYP27A1 in B. megaterium for the efficient hydroxylation of cholesterol, vitamin D3 and 7-dehydrocholesterol.
26374826 2015 Synthesis of an Endogenous Steroidal Na Pump Inhibitor Marinobufagenin, Implicated in Human Cardiovascular Diseases, Is Initiated by CYP27A1 via Bile Acid Pathway.
25845986 2015 Childhood asthma and spirometric indices are associated with polymorphic markers of two vitamin D 25-hydroxylase genes.
25447658 2014 Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.
24732451 2014 Role of local bioactivation of vitamin D by CYP27A1 and CYP2R1 in the control of cell growth in normal endometrium and endometrial carcinoma.
24584636 2014 Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
24280213 2014 De novo synthesis of steroids and oxysterols in adipocytes.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24096962 2013 Evidence for a role of sterol 27-hydroxylase in glucocorticoid metabolism in vivo.
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