Property Summary

NCBI Gene PubMed Count 52
PubMed Score 46.12
PubTator Score 65.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Atopic dermatitis 1.100 4.3e-04
intraductal papillary-mucinous carcinoma... -1.400 1.4e-03
lung cancer -2.100 3.2e-05
psoriasis 1.400 7.6e-70
lung carcinoma -1.200 3.0e-13

 GWAS Trait (1)

Protein-protein Interaction (4)

Gene RIF (40)

PMID Text
26714052 Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43).
26399852 Data indicated that the two GWAS-defined variants in the CYP7B1 region do not strongly influence HIV-1 infection susceptibility.
25915148 Using an agnostic omics approach to focus on the association of CWP with body mass index, we have confirmed a steroid hormone association and identified a genetic variant upstream of the CYP genes, which likely controls this response.
24658845 The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 alpha-hydroxylase previously reported in a family with hereditary spastic paraplegia type 5
24641183 Spastic paraplegia type 5 has a higher frequency in Taiwanese than in other ethnic groups, associated with a CYP7B1 founder mutation and its phenotype is characterized by pronounced dorsal column sensory loss, with cerebellar ataxia in some patients.
24519355 enduring sensory ataxia can be a pivotal sign in SPG5, and expands the phenotypic spectrum associated with mutations in CYP7B1
24491228 21-hydroxy-pregnenolone was identified as a new substrate, and overall low activity toward pregnanes could be related to the increased potency of 7-hydroxy derivatives produced by CYP7B1.
24117163 4 novel mutations described in hereditary spastic paraplegia type 5A: 1 frameshift (c.509 delT p.L170fs), 1 premature stop codon (c.334 C>T p.R112X), 1 amino acid changing (c.440 G>A p.G147D) and 1 duplication (c.945_947 dupGGC p.A316AA)
23180418 investigation of CYP7B1-substrate binding modes
21567895 analysis of the first Japanese patient with an oxysterol 7alpha-hydroxylase deficiency associated with compound heterozygous mutations of the CYP7B1 gene [case report]
21541746 Description of a homology model for human CYP7B1 that provides valuable information on the active site architecture, along with docking studies that analyzed ligand-binding interactions.
21452256 We identifies a Chinese family with hereditary spastic paraplegia due to compound heterozygous mutations in the CYP7B1 gene.
21214876 Five CYP7B1 mutations, three of which are novel, were identified in four patients with hereditary spastic paraplegia type 5.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19732851 CYP7B1-mediated catalysis may play a role for control of the cellular levels of androgens, not only of estrogens.
19692168 Observational study of gene-disease association. (HuGE Navigator)
19687010 CYP7B1 has multiple physiological functions and a role in liver failure in children and in neuropathy [review]
19625176 Observational study of gene-disease association. (HuGE Navigator)
19439420 Results confirm that CYP7B1 is the gene responsible for Spastic Paraplegia type 5.
19363635 we report the first Italian families with SPG5hereditary spastic paraplegia molecular characterization and describe two novel truncating mutations in CYP7B1.
19343046 Observational study of gene-disease association. (HuGE Navigator)
19187859 screening of SPG5/CYP7B1 seems to have a low diagnostic yield in autosomal recessive and sporadic cases of spastic paraplegia, even in those with complicated clinical features.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18855023 Findings suggest CYP7B1 alterations to represent a rather frequent cause of hereditary spastic paraplegia that should be considered in patients with various clinical presentations.
18790053 regulation of CYP7B1 by ER can be mediated via the PI3K/Akt signal pathway, a regulatory pathway important for cellular survival and growth, suggest an important role for CYP7B1 in cellular growth, particularly in connection with estrogenic signalling.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18331353 tissue-specific steroid concentrations may have a strong impact on CYP7B1-dependent catalysis and thus on the levels of different CYP7B1-related steroids that can influence estrogen receptor beta signaling
18252231 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
18055760 Identification of CYP7B1 as a novel ROTalpha (NR1F1) target gene and a functional cross-talk between RORalpha and liver X receptor (NR1H3).
17680536 Results suggest that -204A/C polymorphism in the CYP7A1 gene does not relate with hypertriglyceridemia but may has an effect on serum triglyceride and apoCIII levels in patients with endogenous HTG.
17467270 Presence of both CYP7B1 and 11beta-HSD1 in human skin.
16630558 In particular, the data suggest that androgens may control intraprostatic levels of estrogen via regulation of CYP7B1-mediated metabolism.
15751070 Increased CYP7B activity leads to higher levels of 7alpha-OH-DHEA in synovial fluid which may contribute to the maintenance of chronic inflammation observed in rheumatoid arthritis patients.
15698543 the 7-hydroxylation catalysed by P4507B1 preferentially takes place on DHEA, 5alpha-androstane-3beta,17beta-diol and epiandrosterone with major and minor formation of 7alpha- and 7beta-hydroxylated derivatives, respectively [cyp7b1]
15181079 CYP7B catalyzes oxysterol 7alpha-hydroxylation within the human prostate epithelium and an ERbeta-specific agonist, 7HD, is produced.
15007371 Observational study of genotype prevalence. (HuGE Navigator)
15007371 Single polymorphism in the CYP7B1 gene is associated with phenotypic differences in an expression system and a widely different allele frequency in two ethnic populations, with great differences in the incidence of prostate cancer.
15003524 Promotor activity of the human oxysterol 7alpha-hydroxylase gene is suppressed by sterol response element binding protein.
14521990 In Alzheimer's disease (AD). CYP7B mRNA was significantly decreased (approximately 50% decline; P<0.05) in dentate neurons from AD subjects compared with controls.

AA Sequence

MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFM      1 - 70
KTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHL     71 - 140
CYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFIS    141 - 210
ELRDDFLKFDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDL    211 - 280
EIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLI    281 - 350
CLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIE    351 - 420
DGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPIGLNYSRLLFG    421 - 490
IQYPDSDVLFRYKVKS                                                          491 - 506
//

Text Mined References (53)

PMID Year Title
26714052 2016 Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
26399852 2015 Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection.
25915148 2015 An omics investigation into chronic widespread musculoskeletal pain reveals epiandrosterone sulfate as a potential biomarker.
24658845 2014 Liver disease in infancy caused by oxysterol 7 ?-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
24641183 2015 Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.
24519355 2014 Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.
24491228 2014 Human steroid and oxysterol 7?-hydroxylase CYP7B1: substrate specificity, azole binding and misfolding of clinically relevant mutants.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24117163 2014 CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
23400010 2014 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
23393555 2013 Genome-wide association study of retinopathy in individuals without diabetes.
23180418 2013 Structural and dynamic basis of human cytochrome P450 7B1: a survey of substrate selectivity and major active site access channels.
22174851 2011 Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
21567895 2011 Successful heterozygous living donor liver transplantation for an oxysterol 7?-hydroxylase deficiency in a Japanese patient.
21541746 2012 Comparative modeling of 25-hydroxycholesterol-7?-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
21452256 2011 Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia.
21214876 2012 Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19732851 2009 CYP7B1-mediated metabolism of 5alpha-androstane-3alpha,17beta-diol (3alpha-Adiol): a novel pathway for potential regulation of the cellular levels of androgens and neurosteroids.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19687010 2009 CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19439420 2009 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
19363635 2009 Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19187859 2009 White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
18855023 2009 Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
18790053 2008 Involvement of the PI3K/Akt pathway in estrogen-mediated regulation of human CYP7B1: identification of CYP7B1 as a novel target for PI3K/Akt and MAPK signalling.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18331353 2008 CYP7B1-mediated metabolism of dehydroepiandrosterone and 5alpha-androstane-3beta,17beta-diol--potential role(s) for estrogen signaling.
18252231 2008 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
18055760 2008 Identification of oxysterol 7alpha-hydroxylase (Cyp7b1) as a novel retinoid-related orphan receptor alpha (RORalpha) (NR1F1) target gene and a functional cross-talk between RORalpha and liver X receptor (NR1H3).
17680536 2007 [Association between cholesterol 7alpha-hydroxylase -204A/C gene polymorphism and endogenous hypertriglyceridemia in Chinese].
17467270 2007 Dehydroepiandrosterone 7alpha-hydroxylation in human tissues: possible interference with type 1 11beta-hydroxysteroid dehydrogenase-mediated processes.
16630558 2006 Regulation of steroid hydroxylase CYP7B1 by androgens and estrogens in prostate cancer LNCaP cells.
15751070 2005 CYP7B expression and activity in fibroblast-like synoviocytes from patients with rheumatoid arthritis: regulation by proinflammatory cytokines.
15698543 2004 The human cytochrome P4507B1: catalytic activity studies.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15181079 2004 CYP7B generates a selective estrogen receptor beta agonist in human prostate.
15128046 2004 Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.
15007371 2004 A functional C-G polymorphism in the CYP7B1 promoter region and its different distribution in Orientals and Caucasians.
15003524 2004 Transcriptional regulation of human oxysterol 7alpha-hydroxylase by sterol response element binding protein.
14521990 2003 Dehydroepiandrosterone 7-hydroxylase CYP7B: predominant expression in primate hippocampus and reduced expression in Alzheimer's disease.
12721789 2003 Catalog of 680 variations among eight cytochrome p450 ( CYP) genes, nine esterase genes, and two other genes in the Japanese population.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10588945 1999 Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1.
9802883 1998 Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
9559267 1998 Two 7 alpha-hydroxylase enzymes in bile acid biosynthesis.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7987300 1994 Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.