This region represents the 5' regulatory region of the cytochrome P450 family 7 subfamily A member 1 (CYP7A1) gene, and includes the proximal promoter as well as a regulatory element located in the first intron. The first intron also contains a putative scaffold/matrix attachment region that binds nuclear matrix, and also contains multiple DNase I hypersensitive sites. This pro... See more...

Aliases for LOC110596866 Gene

Aliases for LOC110596866 Gene

  • CYP7A1 5' Regulatory Region 3

External Ids for LOC110596866 Gene

Summaries for LOC110596866 Gene

Entrez Gene Summary for LOC110596866 Gene

  • This region represents the 5' regulatory region of the cytochrome P450 family 7 subfamily A member 1 (CYP7A1) gene, and includes the proximal promoter as well as a regulatory element located in the first intron. The first intron also contains a putative scaffold/matrix attachment region that binds nuclear matrix, and also contains multiple DNase I hypersensitive sites. This promoter is stimulated by binding of hepatocyte nuclear factor and PPARG coactivator 1 alpha, and may be negatively regulated by peroxisome proliferator activated receptor alpha, vitamin D receptor, thyroid hormone, and signaling through transforming growth factor beta. A common polymorphism in this region (rs3808607) may affect promoter activity and has been associated with inter-individual differences in lipid levels. [provided by RefSeq, Jun 2017]

GeneCards Summary for LOC110596866 Gene

LOC110596866 (CYP7A1 5' Regulatory Region) is a Biological Region gene.

Additional gene information for LOC110596866 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC110596866 Gene

Genomics for LOC110596866 Gene

Genomic Locations for LOC110596866 Gene

Genomic Locations for LOC110596866 Gene
chr8:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110596866 Gene

RefSeq DNA sequence for LOC110596866 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC110596866 Gene

Proteins for LOC110596866 Gene

Post-translational modifications for LOC110596866 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110596866 Gene

Domains & Families for LOC110596866 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110596866 Gene

Function for LOC110596866 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC110596866 Gene

Localization for LOC110596866 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC110596866 Gene

Pathways & Interactions for LOC110596866 Gene

PathCards logo

SuperPathways for LOC110596866 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for LOC110596866 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110596866 Gene

Drugs & Compounds for LOC110596866 Gene

No Compound Related Data Available

Transcripts for LOC110596866 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110596866 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110596866 Gene

Expression for LOC110596866 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC110596866 Gene

Orthologs for LOC110596866 Gene

No data available for Orthologs and Evolution for LOC110596866 Gene

Paralogs for LOC110596866 Gene

No data available for Paralogs for LOC110596866 Gene

Variants for LOC110596866 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC110596866 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
714151 Benign: not provided 58,498,475( ) A/G INTRON_VARIANT
rs147162838 Conflicting Interpretations: not provided 58,500,061( ) G/A MISSENSE_VARIANT
rs528066345 Uncertain Significance: not provided 58,500,074( ) C/T MISSENSE_VARIANT
rs886044571 Uncertain Significance: not provided 58,498,479( ) A/G INTRON_VARIANT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110596866 Gene

Disorders for LOC110596866 Gene

No disorders were found for LOC110596866 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110596866 Gene

Publications for LOC110596866 Gene

  1. Diurnal variation in cholesterol 7α-hydroxylase activity is determined by the -203A>C polymorphism of the CYP7A1 gene. (PMID: 27106353) Vlachova M … Kovar J (Croatian medical journal 2016) 3 54
  2. Hypoxic repression of CYP7A1 through a HIF-1α- and SHP-independent mechanism. (PMID: 26521940) Moon Y … Park H (BMB reports 2016) 3 54
  3. The antihypercholesterolemic effect of columbamine from Rhizoma Coptidis in HFHC-diet induced hamsters through HNF-4α/FTF-mediated CYP7A1 activation. (PMID: 27713083) Wang Y … Ye X (Fitoterapia 2016) 3 54
  4. Orphan nuclear receptor oestrogen-related receptor γ (ERRγ) plays a key role in hepatic cannabinoid receptor type 1-mediated induction of CYP7A1 gene expression. (PMID: 26348907) Zhang Y … Choi HS (The Biochemical journal 2015) 3 54
  5. Thyroid hormone induction of human cholesterol 7 alpha-hydroxylase (Cyp7a1) in vitro. (PMID: 24582860) Lammel Lindemann JA … Ayers SD (Molecular and cellular endocrinology 2014) 3 54

No data available for Mastermind for LOC110596866 Gene

Products for LOC110596866 Gene

Sources for LOC110596866 Gene