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Aliases for CYP7A1 Gene

Aliases for CYP7A1 Gene

  • Cytochrome P450 Family 7 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Family 7, Subfamily A, Polypeptide 1 2 3
  • Cholesterol 7-Alpha-Hydroxylase 3 4
  • Cytochrome P450 7A1 3 4
  • CYPVII 3 4
  • CYP7 3 4
  • Cytochrome P450, Subfamily VIIA (Cholesterol 7 Alpha-Monooxygenase), Polypeptide 1 2
  • Cytochrome P450, Subfamily VIIA Polypeptide 1 3
  • Cholesterol 7-Alpha-Monooxygenase 3
  • Cholesterol 7 Alpha-Monooxygenase 2
  • EC 1.14.14.23 4
  • CP7A 3

External Ids for CYP7A1 Gene

Previous HGNC Symbols for CYP7A1 Gene

  • CYP7

Previous GeneCards Identifiers for CYP7A1 Gene

  • GC08M059342
  • GC08M059125
  • GC08M059452
  • GC08M059565
  • GC08M054889

Summaries for CYP7A1 Gene

Entrez Gene Summary for CYP7A1 Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]

GeneCards Summary for CYP7A1 Gene

CYP7A1 (Cytochrome P450 Family 7 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP7A1 include Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency and Sitosterolemia. Among its related pathways are Cytochrome P450 - arranged by substrate type and PPAR Alpha Pathway. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP7B1.

UniProtKB/Swiss-Prot for CYP7A1 Gene

  • Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis.

Gene Wiki entry for CYP7A1 Gene

Additional gene information for CYP7A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP7A1 Gene

Genomics for CYP7A1 Gene

GeneHancer (GH) Regulatory Elements for CYP7A1 Gene

Promoters and enhancers for CYP7A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J058500 Promoter 1.1 EPDnew 650.7 +0.8 776 0.1 SOX13 FOXA2 MAX ZNF384 RAD21 RARA YY1 RERE HNF4G NR2F6 CYP7A1 GC08M058432
GH08J058470 Enhancer 0.9 ENCODE 12.9 +29.7 29683 1.3 ELF3 FOXA2 ZSCAN9 RARA ETS1 SMARCC2 CREM THAP11 MIXL1 NFKBIZ CYP7A1 SDCBP GC08M058432
GH08J058073 Enhancer 0.8 dbSUPER 4.7 +426.7 426670 1.3 MZF1 FEZF1 ZNF2 RAD21 GLIS2 SCRT2 ZNF143 ZNF654 ZBTB25 REST FAM110B CYP7A1 ENSG00000253116 ENSG00000253523 GC08M057799
GH08J058480 Enhancer 0.7 ENCODE 0.3 +20.3 20342 0.2 SOX13 FOXA2 MAX CEBPG RAD21 RARA YY1 RXRA NFIA FOXA3 CYP7A1 GC08M058432
GH08J058457 Enhancer 0.6 ENCODE 0.3 +42.2 42228 2 CTCF RXRA FOXA3 ZNF10 REST THRB RAD21 CREB1 SMC3 ZNF143 SDCBP UBXN2B GC08M058432 CYP7A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP7A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP7A1 gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2
  • COUP-TF1
  • COUP
  • COUP-TF
  • RSRFC4
  • FAC1

Genomic Locations for CYP7A1 Gene

Genomic Locations for CYP7A1 Gene
chr8:58,490,178-58,500,959
(GRCh38/hg38)
Size:
10,782 bases
Orientation:
Minus strand
chr8:59,402,737-59,412,795
(GRCh37/hg19)
Size:
10,059 bases
Orientation:
Minus strand

Genomic View for CYP7A1 Gene

Genes around CYP7A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP7A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP7A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP7A1 Gene

Proteins for CYP7A1 Gene

  • Protein details for CYP7A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22680-CP7A1_HUMAN
    Recommended name:
    Cholesterol 7-alpha-monooxygenase
    Protein Accession:
    P22680
    Secondary Accessions:
    • P78454
    • Q3MIL8
    • Q7KZ19

    Protein attributes for CYP7A1 Gene

    Size:
    504 amino acids
    Molecular mass:
    57661 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP7A1 Gene

neXtProt entry for CYP7A1 Gene

Post-translational modifications for CYP7A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP7A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP7A1 Gene

Domains & Families for CYP7A1 Gene

Gene Families for CYP7A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CYP7A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22680

UniProtKB/Swiss-Prot:

CP7A1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP7A1: view

Function for CYP7A1 Gene

Molecular function for CYP7A1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis.
UniProtKB/Swiss-Prot CatalyticActivity:
Cholesterol + [reduced NADPH--hemoprotein reductase] + O(2) = 7-alpha-hydroxycholesterol + [oxidized NADPH--hemoprotein reductase] + H(2)O.
UniProtKB/Swiss-Prot Induction:
Up-regulated by glucose and by cholestyramine. Down-regulated by chenodeoxycholic acid.
GENATLAS Biochemistry:
cytochrome P450,subfamily VIIA,polypeptide 1,cholesterol 7 alpha-hydroxylase (monooxygenase) liver specific,microsomal,catalyzing the first step of bile synthesis,with an insertion in the promoter containing a cyclophilin A processed pseudogene

Enzyme Numbers (IUBMB) for CYP7A1 Gene

Phenotypes From GWAS Catalog for CYP7A1 Gene

Gene Ontology (GO) - Molecular Function for CYP7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008123 cholesterol 7-alpha-monooxygenase activity TAS --
GO:0008395 steroid hydroxylase activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with CYP7A1: view
genes like me logo Genes that share phenotypes with CYP7A1: view

Human Phenotype Ontology for CYP7A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP7A1 Gene

MGI Knock Outs for CYP7A1:

Animal Model Products

miRNA for CYP7A1 Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP7A1 Gene

Localization for CYP7A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP7A1 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP7A1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
peroxisome 2
nucleus 2
plasma membrane 1
mitochondrion 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CYP7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
GO:0043231 intracellular membrane-bounded organelle ISS --
genes like me logo Genes that share ontologies with CYP7A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP7A1 Gene

Pathways & Interactions for CYP7A1 Gene

genes like me logo Genes that share pathways with CYP7A1: view

UniProtKB/Swiss-Prot P22680-CP7A1_HUMAN

  • Pathway: Lipid metabolism; bile acid biosynthesis.

Gene Ontology (GO) - Biological Process for CYP7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006699 bile acid biosynthetic process TAS,ISS --
GO:0006707 cholesterol catabolic process ISS --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with CYP7A1: view

No data available for SIGNOR curated interactions for CYP7A1 Gene

Drugs & Compounds for CYP7A1 Gene

(32) Drugs for CYP7A1 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
cholic acid Approved Pharma Full agonist, Agonist 0
cholesterol Approved, Investigational Pharma Agonist 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(29) Additional Compounds for CYP7A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
7-a,27-Dihydroxycholesterol
  • 5-Cholestene-3beta,7alpha,26-triol
  • 7-alpha,27-Dihydroxycholesterol
  • Cholest-5-ene-3beta,7alpha,26-triol
  • Cholest-5-ene-3beta,7alpha,27-triol
  • 5-Cholestene-3b,7a,26-triol
4725-24-0
7a-Hydroxycholesterol
  • 7 alpha-Hydroxycholesterol
  • 7-a-Hydroxycholesterol
  • 7-alpha-Hydroxycholesterol
  • 7alpha-Hydroxycholesterol
  • Cholest-5-ene-3beta,7alpha-diol
7a-Hydroxydehydroepiandrosterone
  • 7alpha-OH-DHEA
  • 3beta,7alpha-Dihydroxy-5-androstene-17-one
  • 7a-OH-DHEA
  • 7α-OH-dhea
  • 3b,7a-Dihydroxy-5-androstene-17-one
53-00-9
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with CYP7A1: view

Transcripts for CYP7A1 Gene

mRNA/cDNA for CYP7A1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP7A1 Gene

Cytochrome P450, family 7, subfamily A, polypeptide 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP7A1 Gene

No ASD Table

Relevant External Links for CYP7A1 Gene

GeneLoc Exon Structure for
CYP7A1
ECgene alternative splicing isoforms for
CYP7A1

Expression for CYP7A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP7A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP7A1 Gene

This gene is overexpressed in Liver (x40.0).

Protein differential expression in normal tissues from HIPED for CYP7A1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (58.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP7A1 Gene



Protein tissue co-expression partners for CYP7A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYP7A1 Gene:

CYP7A1

SOURCE GeneReport for Unigene cluster for CYP7A1 Gene:

Hs.1644

mRNA Expression by UniProt/SwissProt for CYP7A1 Gene:

P22680-CP7A1_HUMAN
Tissue specificity: Detected in liver.

Evidence on tissue expression from TISSUES for CYP7A1 Gene

  • Liver(4.8)
  • Intestine(2.5)
  • Gall bladder(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with CYP7A1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP7A1 Gene

Orthologs for CYP7A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYP7A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP7A1 34 33
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CYP7A1 34 33
  • 87.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CYP7A1 34 33
  • 83.17 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp7a1 16 34 33
  • 82.97 (n)
rat
(Rattus norvegicus)
Mammalia Cyp7a1 33
  • 82.24 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP7A1 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP7A1 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP7A1 34 33
  • 70.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP7A1 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488670 33
  • 68.39 (n)
zebrafish
(Danio rerio)
Actinopterygii cyp7a1a 34 33
  • 65.67 (n)
OneToOne
zgc63920 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4049 34
  • 36 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
Species where no ortholog for CYP7A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP7A1 Gene

ENSEMBL:
Gene Tree for CYP7A1 (if available)
TreeFam:
Gene Tree for CYP7A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP7A1: view image

Paralogs for CYP7A1 Gene

Paralogs for CYP7A1 Gene

(4) SIMAP similar genes for CYP7A1 Gene using alignment to 1 proteins:

  • CP7A1_HUMAN
genes like me logo Genes that share paralogs with CYP7A1: view

Variants for CYP7A1 Gene

Sequence variations from dbSNP and Humsavar for CYP7A1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs142708991 likely-benign, not specified 58,492,376(-) G/C/T coding_sequence_variant, missense_variant
rs386352295 uncertain-significance, not provided 58,496,605(-) T/A coding_sequence_variant, missense_variant
rs138113674 uncertain-significance, not specified 58,498,442(-) A/T coding_sequence_variant, missense_variant
rs139396617 uncertain-significance, not specified 58,496,733(-) C/A/T coding_sequence_variant, missense_variant
rs151122002 uncertain-significance, not specified 58,491,698(-) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CYP7A1 Gene

Variant ID Type Subtype PubMed ID
esv994118 CNV deletion 20482838
nsv1128421 CNV deletion 24896259

Variation tolerance for CYP7A1 Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP7A1 Gene

Human Gene Mutation Database (HGMD)
CYP7A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP7A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP7A1 Gene

Disorders for CYP7A1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CYP7A1 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYP7A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYP7A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP7A1 Gene

Publications for CYP7A1 Gene

  1. Glucose stimulates cholesterol 7alpha-hydroxylase gene transcription in human hepatocytes. (PMID: 19965590) Li T … Chiang JY (Journal of lipid research 2010) 3 4 22 58
  2. CYP7A1 (-204 A>C; rs3808607 and -469 T>C; rs3824260) promoter polymorphisms and risk of gallbladder cancer in North Indian population. (PMID: 20005541) Srivastava A … Mittal B (Metabolism: clinical and experimental 2010) 3 22 44 58
  3. A combination of proatherogenic single-nucleotide polymorphisms is associated with increased risk of coronary artery disease and myocardial infarction in Asian Indians. (PMID: 19558216) Poduri A … Talwar KK (DNA and cell biology 2009) 3 22 44 58
  4. Role of genetic variant A-204C of cholesterol 7alpha-hydroxylase (CYP7A1) in susceptibility to gallbladder cancer. (PMID: 18178499) Srivastava A … Mittal B (Molecular genetics and metabolism 2008) 3 22 44 58
  5. Cholesterol 7alpha-hydrolase (CYP7A1) c.-278A>C promoter polymorphism in gallstone disease patients. (PMID: 18307386) Juzyszyn Z … Droździk M (Genetic testing 2008) 3 22 44 58

Products for CYP7A1 Gene

Sources for CYP7A1 Gene

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