Free for academic non-profit institutions. Other users need a Commercial license

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
  • EC 1.14.13.17 4 63
  • 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 2
  • EC 1.14.13 63
  • 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 Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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 CYP8B1.

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

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

Genomics for CYP7A1 Gene

Regulatory Elements for CYP7A1 Gene

Genomic Location for CYP7A1 Gene

Chromosome:
8
Start:
58,490,178 bp from pter
End:
58,500,959 bp from pter
Size:
10,782 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

Proteomics data for CYP7A1 Gene at MOPED

Selected DME Specific Peptides 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:

Antibody Products

Domains & Families for CYP7A1 Gene

Gene Families for CYP7A1 Gene

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

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
UniProtKB/Swiss-Prot CatalyticActivity:
Cholesterol + NADPH + O(2) = 7-alpha-hydroxycholesterol + NADP(+) + H(2)O.
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 Induction:
Up-regulated by glucose and by cholestyramine. Down-regulated by chenodeoxycholic acid.

Enzyme Numbers (IUBMB) for CYP7A1 Gene

Gene Ontology (GO) - Molecular Function for CYP7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008123 cholesterol 7-alpha-monooxygenase activity IEA,TAS --
genes like me logo Genes that share ontologies with CYP7A1: view
genes like me logo Genes that share phenotypes with CYP7A1: view

Animal Models for CYP7A1 Gene

MGI Knock Outs for CYP7A1:

Animal Model Products

miRNA for CYP7A1 Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , 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
Jensen Localization Image for CYP7A1 Gene COMPARTMENTS Subcellular localization image for CYP7A1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
nucleus 2
peroxisome 2
cytosol 1
golgi apparatus 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components 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.

Interacting Proteins for CYP7A1 Gene

Gene Ontology (GO) - Biological Process for CYP7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0016125 sterol metabolic process TAS --
GO:0044255 cellular lipid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0070857 regulation of bile acid biosynthetic process IEA,ISS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
cholesterol Experimental Pharma Agonist 0
Taurocholic acid Experimental Pharma 0
27-hydroxycholesterol Pharma Agonist 0
heme Pharma Agonist 0

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

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
  • 7alpha,26-dihydroxycholesterol
  • 7alpha,27-Dihydroxycholesterol
  • Cholest-5-ene-3,7,27-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
  • (-)-7a-Hydroxydehydroepiandrosterone
  • (3b,7a)-3,7-dihydroxy-Androst-5-en-17-one
  • 3b,7a-Dihydroxy-5-androsten-17-one
  • 3b,7a-Dihydroxy-5-androstene-17-one
  • 3b,7a-Dihydroxy-Androst-5-en-17-one
53-00-9
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with CYP7A1: view

Transcripts for CYP7A1 Gene

mRNA/cDNA for CYP7A1 Gene

(2) 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:

Inhibitory RNA Products

Flow Cytometry 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 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, PaxDb, and MOPED for CYP7A1 Gene



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.
genes like me logo Genes that share expression patterns with CYP7A1: view

Protein tissue co-expression partners for CYP7A1 Gene

Primer Products

In Situ Assay Products

Orthologs for CYP7A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYP7A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYP7A1 35
  • 83.17 (n)
  • 81.96 (a)
CYP7A1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP7A1 35
  • 87.23 (n)
  • 85.23 (a)
CYP7A1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp7a1 35
  • 82.97 (n)
  • 81.71 (a)
Cyp7a1 16
Cyp7a1 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYP7A1 35
  • 99.74 (n)
  • 99.8 (a)
CYP7A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp7a1 35
  • 82.24 (n)
  • 82.5 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP7A1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP7A1 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP7A1 35
  • 70.97 (n)
  • 66.87 (a)
CYP7A1 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP7A1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488670 35
  • 68.39 (n)
  • 65.74 (a)
zebrafish
(Danio rerio)
Actinopterygii cyp7a1a 35
  • 65.67 (n)
  • 64.29 (a)
zgc63920 35
cyp7a1a 36
  • 64 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
CSA.4049 36
  • 36 (a)
ManyToMany
Species with no ortholog for CYP7A1:
  • 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)

Paralogs for CYP7A1 Gene

Paralogs for CYP7A1 Gene

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

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 Sequence Context AA Info Type
VAR_001259 -
rs8192874 - 58,496,814(-) GCACA(A/G)TGCCC reference, missense
rs8192875 - 58,494,506(-) TATTA(A/G)GTGGG reference, missense
rs62621283 - 58,498,294(+) CTTAT(G/T)GTATG reference, missense
rs983770 -- 58,497,266(+) GATTA(A/G)ATACT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv890938 CNV Gain 21882294
esv994118 CNV Deletion 20482838

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)

Relevant External Links for CYP7A1 Gene

HapMap Linkage Disequilibrium report
CYP7A1
Human Gene Mutation Database (HGMD)
CYP7A1

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

Disorders for CYP7A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
sitosterolemia
  • beta-sitosterolemia
extrahepatic cholestasis
  • extrahepatic biliary stasis
cerebrotendinous xanthomatosis
  • cholestanol storage disease
xanthomatosis
  • xanthelasmatosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYP7A1

Genetic Association Database (GAD)
CYP7A1
Human Genome Epidemiology (HuGE) Navigator
CYP7A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP7A1
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. CYP7A1 promoter polymorphism -203A>C affects bile salt synthesis rate in patients after ileal resection. (PMID: 18728290) LenA-cek M. … VA-tek L. (J. Lipid Res. 2008) 3 23 48 67
  2. Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12. (PMID: 1358792) Cohen J.C. … Hobbs H.H. (Genomics 1992) 2 3 23
  3. Regulation of diurnal variation of cholesterol 7alpha-hydroxylase (CYP7A1) activity in healthy subjects. (PMID: 19537927) KovA!r J. … Pitha J. (Physiol Res 2010) 3 23
  4. Glucose stimulates cholesterol 7alpha-hydroxylase gene transcription in human hepatocytes. (PMID: 19965590) Li T. … Chiang J.Y. (J. Lipid Res. 2010) 3 23
  5. 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. (Metab. Clin. Exp. 2010) 3 23

Products for CYP7A1 Gene

Sources for CYP7A1 Gene

Back to Top

Content